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Name |
GHR-webpage |
frequency |
Description |
inheritance-pattern |
related-gene-list |
Synonym-list |
Db-key-list |
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| 1 |
15q13.3 microdeletion |
https://ghr.nlm.nih.gov/condition/15q133-microdeletion |
15q13.3 microdeletion likely occurs in about 1 in 40,000 people in the |
html |
code |
memo |
related-chromosome |
name |
ghr-page |
15q13.3 microdeletion syndrome |
db |
key |
2016-08 |
2017-12-291 |
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(intellectual) |
general population. It appears to be more common in people with intellectual |
html:p |
15q13.3 microdeletion is a chromosomal change in which a small piece of |
ad |
autosomal dominant |
15 |
https://ghr.nlm.nih.gov/chromosome/15 |
chromosome 15q13.3 deletion syndrome |
GTR |
C2677613 |
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(developmental delay) |
disability, epilepsy, schizophrenia, or autism spectrum disorders. |
chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm |
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(behavioral) |
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of the chromosome at a position designated q13.3. This chromosomal change |
GeneReviews |
mdel15q13_3 |
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(cognitive) |
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increases the risk of intellectual disability, seizures, behavioral problems, |
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(epilepsy) |
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and psychiatric disorders. However, some people with a 15q13.3 microdeletion do |
MeSH |
D025063 |
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(psychiatric/ mental: schizophrenia) |
not appear to have any associated features. |
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(distinctive facial feature) |
html:p |
About half of all people with a 15q13.3 microdeletion have learning difficulties |
OMIM |
612001 |
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(heart) |
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or intellectual disability, which is usually mild or moderate. Many of these |
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(limbs) |
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individuals have delayed speech and language skills. 15q13.3 microdeletion also |
Orphanet |
199318 |
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(some may not have any signs) |
appears to be a major risk factor for recurrent seizures (epilepsy); about |
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one-third of people with this chromosomal change have epilepsy. |
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SNOMED CT |
699254009 |
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html:p |
15q13.3 microdeletion has also been associated with behavioral problems, |
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including a short attention span, aggression, impulsive behavior, and |
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hyperactivity. Some people with a 15q13.3 microdeletion have been diagnosed with |
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developmental disorders that affect communication and social interaction |
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(autism spectrum disorders). This chromosomal change may also be associated with |
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an increased risk of psychiatric disorders, particularly schizophrenia. Other |
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signs and symptoms of 15q13.3 microdeletion can include heart defects, minor |
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abnormalities involving the hands and arms, and subtle differences in facial |
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features. |
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html:p |
Some people with a 15q13.3 microdeletion do not have any of the intellectual, |
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behavioral, or physical features described above. In these individuals, the |
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microdeletion is often detected when they undergo genetic testing because they |
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have an affected relative. It is unknown why a 15q13.3 microdeletion causes |
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cognitive and behavioral problems in some individuals but few or no health |
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problems in others. |
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| 2 |
15q24 microdeletion |
https://ghr.nlm.nih.gov/condition/15q24-microdeletion |
This condition is very rare; only a few dozen affected individuals have |
html |
code |
memo |
related-chromosome |
name |
ghr-page |
15q24 deletion |
db |
key |
2011-09 |
2017-12-29 |
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(intellectual) |
been identified. |
html:p |
15q24 microdeletion is a chromosomal change in which a small piece of chromosome |
n |
not inherited |
15 |
https://ghr.nlm.nih.gov/chromosome/15 |
15q24 microdeletion syndrome |
GTR |
C3150674 |
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(developmental) |
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15 is deleted in each cell. The deletion occurs on the long (q) arm of the |
interstitial deletion of chromosome 15q24 |
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(male:sexual ambiguous) |
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chromosome at a position designated q24. |
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GeneReviews |
mdel15q24 |
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(short) |
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html:p |
15q24 microdeletion is associated with mild to moderate intellectual disability |
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(muscle) |
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and delayed speech development. Other common signs and symptoms include short |
MeSH |
D025063 |
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(skeletal) |
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stature, weak muscle tone (hypotonia), and skeletal abnormalities including |
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(distinctive facial feature) |
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loose (lax) joints. Affected males may have genital abnormalities, which can |
OMIM |
613406 |
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include an unusually small penis (micropenis) and the opening of the urethra on |
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the underside of the penis (hypospadias). Affected individuals also have |
Orphanet |
94065 |
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distinctive facial features such as a high front hairline, broad eyebrows, |
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widely set eyes (hypertelorism), outside corners of the eyes that point downward |
SNOMED CT |
699308002 |
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(downslanting palpebral fissures), a broad nasal bridge, a full lower lip, and |
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a long, smooth space between the upper lip and nose (philtrum). |
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| 3 |
16p11.2 deletion syndrome |
https://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome |
Most people tested for the 16p11.2 deletion have come to medical attention |
html |
code |
memo |
related-chromosome |
name |
ghr-page |
autism, susceptibility to, 14A |
db |
key |
2014-09 |
2017-12-29 |
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(intellectual) |
as a result of developmental delay or autistic behaviors. Other individuals with |
html:p |
16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of |
ad |
autosomal dominant |
16 |
https://ghr.nlm.nih.gov/chromosome/16 |
AUTS14A |
GTR |
C3150154 |
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(developmental) |
the 16p11.2 deletion have no associated health or behavioral problems, and so |
chromosome 16. The deletion occurs near the middle of the chromosome at a |
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(autistic) |
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the deletion may never be detected. For this reason, the prevalence of this |
location designated p11.2. |
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GTR |
CN128718 |
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(epilepsy) |
deletion in the general population is difficult to determine but has been |
html:p |
People with 16p11.2 deletion syndrome usually have developmental delay and |
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| 28 |
(physical: low-set ears; partially webbed toes) |
estimated at approximately 3 in 10,000. |
intellectual disability. Most also have at least some features of autism |
GeneReviews |
del16p11_2 |
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(behavioral) |
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spectrum disorders. These disorders are characterized by impaired communication |
db |
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(obesity) |
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and socialization skills, as well as delayed development of speech and language. |
MeSH |
D025063 |
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(some may not have sign) |
In 16p11.2 deletion syndrome, expressive language skills (vocabulary and the |
db |
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production of speech) are generally more severely affected than receptive |
OMIM |
611913 |
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language skills (the ability to understand speech). Some people with this |
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disorder have recurrent seizures (epilepsy). |
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SNOMED CT |
699307007 |
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html:p |
Some affected individuals have minor physical abnormalities such as low-set ears |
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or partially webbed toes (partial syndactyly). People with this disorder are |
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also at increased risk of obesity compared with the general population. However, |
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there is no particular pattern of physical abnormalities that characterizes |
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16p11.2 deletion syndrome. Signs and symptoms of the disorder vary even among |
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affected members of the same family. Some people with the deletion have no |
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identified physical, intellectual, or behavioral abnormalities. |
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| 4 |
16p11.2 duplication |
https://ghr.nlm.nih.gov/condition/16p112-duplication |
16p11.2 duplications have been estimated to occur in about 3 in 10,000 |
html |
code |
memo |
related-chromosome |
name |
ghr-page |
16p11.2 duplication syndrome |
db |
key |
2016-12 |
2017-12-29 |
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(intellectual) |
people. These changes are present in about 4 in 10,000 people who have mental |
html:p |
16p11.2 duplication is a chromosomal change in which a small amount of genetic |
ad |
autosomal dominant |
16 |
https://ghr.nlm.nih.gov/chromosome/16 |
16p11.2 microduplication |
GTR |
C3150155 |
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(developmental) |
health problems or difficulties with speech and language. Many people with the |
material within chromosome 16 is abnormally copied (duplicated). The duplication |
autism, susceptibility to, 14B |
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(behavioral: ADHD) |
duplication are likely never diagnosed because there are many causes of these |
occurs near the middle of the chromosome at a location designated p11.2. This |
AUTS14B |
MeSH |
D025063 |
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(psychiatric/ mental: schizophrenia, anxiety, depression) |
problems, and some people with the duplication have no related health or |
duplication can have a variety of effects. Common characteristics that occur in |
db |
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(autistic) |
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developmental problems. |
people with a 16p11.2 duplication include a low weight; a small head size |
OMIM |
614671 |
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(epilepsy) |
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(microcephaly); and developmental delay, especially in speech and language. |
db |
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(malformation: kidney; urinary tract) |
Affected individuals also have an increased risk of behavioral problems. |
Orphanet |
370079 |
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(some may not have any signs) |
However, some people with the duplication have no identified physical or |
db |
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behavioral abnormalities. |
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SNOMED CT |
88326002 |
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html:p |
Developmental delay and intellectual disability can occur in people with a |
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16p11.2 duplication. Approximately one-third of children with this condition |
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have delays in developing physical skills such as sitting, crawling, or walking. |
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The average IQ of affected individuals is about 26 points lower than that of |
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their parents without the duplication. About 80 percent of people with a 16p11.2 |
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duplication have problems related to speech or language. Both expressive |
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language skills (vocabulary and the production of speech) and receptive language |
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skills (the ability to understand speech) can be affected. |
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html:p |
One of the most common behavioral problems associated with this chromosomal |
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change is attention deficit hyperactivity disorder. Autism spectrum disorders, |
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which affect communication and social skills, are diagnosed in about one in five |
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people with a 16p11.2 duplication. Affected individuals also have an increased |
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risk of mental health problems, including schizophrenia, anxiety, and |
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depression. Recurrent seizures are possible in this condition, although they do |
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not occur in most affected individuals. |
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html:p |
Other abnormalities that can occur with a 16p11.2 duplication include |
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malformations of the kidneys and urinary tract. However, there is no particular |
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pattern of physical abnormalities that characterizes 16p11.2 duplications; signs |
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and symptoms related to the chromosomal change vary even among affected members |
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of the same family. |
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| 5 |
16p12.2 microdeletion |
https://ghr.nlm.nih.gov/condition/16p122-microdeletion |
Researchers estimate that about 1 in 2,000 newborns have a 16p12.2 |
html |
code |
memo |
related-chromosome |
name |
ghr-page |
16p12.1 microdeletion |
db |
key |
2017-08 |
2017-12-29 |
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(intellectual) |
microdeletion and show signs and symptoms of the condition. However, the actual |
html:p |
16p12.2 microdeletion is a chromosomal change in which a small amount of genetic |
ad |
autosomal dominant |
16 |
https://ghr.nlm.nih.gov/chromosome/16 |
chromosome 16p12.1 deletion syndrome, 520-kb |
GeneReviews |
mdel16p12_2 |
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(developmental) |
number may be higher because many people with the microdeletion are likely never |
material on chromosome 16 is deleted. The deletion occurs on the short (p) arm |
db |
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(hypotonia) |
diagnosed. Some never come to medical attention because they have no related |
of the chromosome at a location designated p12.2. Common characteristics that |
MeSH |
D025063 |
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(slow growth: short) |
health or behavioral problems or have only mild signs and symptoms. Others have |
have been described in people with a 16p12.2 microdeletion include developmental |
db |
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(small head) |
nonspecific features for which there can be many causes. |
delay, delayed speech, intellectual disability that ranges from mild to |
OMIM |
136570 |
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(Malformation: heart, kidney) |
profound, weak muscle tone (hypotonia), slow growth resulting in short stature, |
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(epilepsy) |
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an usually small head (microcephaly), malformations of the heart, recurrent |
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(behavioral) |
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seizures (epilepsy), and psychiatric and behavioral problems. |
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(psychiatric/ mental) |
html:p |
Less common features that can occur in people with a 16p12.2 microdeletion can |
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(hearing loss) |
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include hearing loss, an opening in the lip (cleft lip) with or without an |
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(physical: cleft lip; cleft palate) |
opening in the roof of the mouth (cleft palate), dental abnormalities, malformed |
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(dental) |
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kidneys, and genital abnormalities in males. However, there is no particular |
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(some may not have any signs) |
pattern of physical abnormalities that characterizes individuals with a 16p12.2 |
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microdeletion. Signs and symptoms related to the chromosomal change vary even |
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among affected members of the same family, and some people with the deletion |
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have no identified physical or behavioral abnormalities. |
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| 6 |
17 alpha-hydroxylase/17,20-lyase deficiency |
https://ghr.nlm.nih.gov/condition/17-alpha-hydroxylase-17-20-lyase-deficiency |
17α-hydroxylase/17,20-lyase deficiency accounts for about 1 percent of |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
17-alpha-hydroxylase deficiency |
db |
key |
2016-03 |
2017-12-29 |
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7α-羟化酶缺乏症 |
congenital adrenal hyperplasia cases. It is estimated to occur in 1 in 1 million |
html:p |
17 alpha(α)-hydroxylase/17,20-lyase deficiency is a condition that affects the |
ar |
autosomal recessive |
CYP17A1 |
https://ghr.nlm.nih.gov/gene/CYP17A1 |
17-alpha-hydroxylase-deficient congenital adrenal hyperplasia |
GTR |
C0268285 |
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17,20-裂解酶缺乏症 |
people worldwide. |
function of certain hormone-producing glands called the gonads (ovaries in |
adrenal hyperplasia V |
db |
key |
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CYP17 缺乏症 |
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females and testes in males) and the adrenal glands. The gonads direct sexual |
combined 17 alpha-hydroxylase/17,20-lyase deficiency |
MeSH |
D000312 |
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(hormone imbalance) |
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development before birth and during puberty and are important for reproduction. |
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency |
db |
key |
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(high blood pressure) |
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The adrenal glands, which are located on top of the kidneys, regulate the |
congenital adrenal hyperplasia type 5 |
OMIM |
202110 |
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(low blood potassium) |
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production of certain hormones, including those that control salt levels in the |
deficiency of steroid 17-alpha-monooxygenase |
db |
key |
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(infertility: M&F) |
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body. People with 17α-hydroxylase/17,20-lyase deficiency have an imbalance of |
Orphanet |
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(abnormal male genitalia: small penis, males raised as females) |
many of the hormones that are made in these glands. 17α-hydroxylase/17,20-lyase |
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deficiency is one of a group of disorders, known as congenital adrenal |
Orphanet |
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hyperplasias, that impair hormone production and disrupt sexual development and |
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maturation. |
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SNOMED CT |
124220008 |
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html:p |
Hormone imbalances lead to the characteristic signs and symptoms of |
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17α-hydroxylase/17,20-lyase deficiency, which include high blood pressure |
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(hypertension), low levels of potassium in the blood (hypokalemia), and abnormal |
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sexual development. The severity of the features varies. Two forms of the |
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condition are recognized: complete 17α-hydroxylase/17,20-lyase deficiency, which |
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is more severe, and partial 17α-hydroxylase/17,20-lyase deficiency, which is |
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typically less so. |
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html:p |
Males and females are affected by disruptions to sexual development differently. |
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Females (who have two X chromosomes) with 17α-hydroxylase/17,20-lyase |
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deficiency are born with normal external female genitalia; however, the internal |
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reproductive organs, including the uterus and ovaries, may be underdeveloped. |
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Women with complete 17α-hydroxylase/17,20-lyase deficiency do not develop |
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secondary sex characteristics, such as breasts and pubic hair, and do not |
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menstruate (amenorrhea). Women with partial 17α-hydroxylase/17,20-lyase |
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deficiency may develop some secondary sex characteristics; menstruation is |
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typically irregular or absent. Either form of the disorder results in an |
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inability to conceive a baby (infertility). |
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html:p |
In affected individuals who are chromosomally male (having an X and a Y |
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chromosome), problems with sexual development lead to abnormalities of the |
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external genitalia. The most severely affected are born with characteristically |
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female external genitalia and are generally raised as females. However, because |
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they do not have female internal reproductive organs, these individuals have |
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amenorrhea and do not develop female secondary sex characteristics. These |
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individuals have testes, but they are abnormally located in the abdomen |
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(undescended). Sometimes, complete 17α-hydroxylase/17,20-lyase deficiency leads |
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to external genitalia that do not look clearly male or clearly female (ambiguous |
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genitalia). Males with partial 17α-hydroxylase/17,20-lyase deficiency usually |
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have abnormal male genitalia, such as a small penis (micropenis), the opening of |
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the urethra on the underside of the penis (hypospadias), or a scrotum divided |
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into two lobes (bifid scrotum). Males with either complete or partial |
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17α-hydroxylase/17,20-lyase deficiency are also infertile. |
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| 7 |
17-beta hydroxysteroid dehydrogenase 3 deficiency |
17-beta hydroxysteroid dehydrogenase 3 deficiency is a rare disorder. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
17-beta hydroxysteroid dehydrogenase III deficiency |
db |
key |
2008-11 |
2017-12-29 |
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(sexual development) |
Researchers have estimated that this condition occurs in approximately 1 in |
html:p |
17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects |
ar |
autosomal recessive |
HSD17B3 |
https://ghr.nlm.nih.gov/gene/HSD17B3 |
17-ketosteroid reductase deficiency of testis |
GTR |
CN239160 |
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(hormone) |
147,000 newborns. It is more common in the Arab population of Gaza, where it |
male sexual development. People with this condition are genetically male, with |
17-KSR deficiency |
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key |
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(male:sexual ambiguous) |
affects 1 in 200 to 300 people. |
one X and one Y chromosome in each cell, and they have male gonads (testes). |
neutral 17-beta-hydroxysteroid oxidoreductase deficiency |
MeSH |
D058490 |
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Their bodies, however, do not produce enough of the male sex hormone |
pseudohermaphroditism, male, with gynecomastia |
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key |
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testosterone. Testosterone has a critical role in male sexual development, and a |
testosterone 17-beta-dehydrogenase deficiency |
OMIM |
264300 |
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shortage of this hormone disrupts the formation of the external sex organs |
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key |
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before birth. |
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Orphanet |
752 |
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genetically male, appear female |
html:p |
Most people with 17-beta hydroxysteroid dehydrogenase 3 deficiency are born with |
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key |
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external genitalia that appear female. In some cases, the external genitalia do |
SNOMED CT |
50658006 |
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not look clearly male or clearly female (sometimes called ambiguous genitalia). |
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Still other affected infants have genitalia that appear predominantly male, |
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often with an unusually small penis (micropenis) or the urethra opening on the |
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underside of the penis (hypospadias). |
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html:p |
During puberty, people with this condition develop some secondary sex |
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characteristics, such as increased muscle mass, deepening of the voice, and |
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development of male pattern body hair. The penis and scrotum (the sac of skin |
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that holds the testes) grow larger during this period. In addition to these |
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changes typical of adolescent boys, some affected males may also experience |
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breast enlargement (gynecomastia). Men with this disorder are generally unable |
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to father children (infertile). |
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html:p |
Children with 17-beta hydroxysteroid dehydrogenase 3 deficiency are often raised |
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as girls. About half of these individuals adopt a male gender role in |
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adolescence or early adulthood. |
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| 8 |
17β-hydroxysteroid dehydrogenase type 10 deficiency |
https://ghr.nlm.nih.gov/condition/17beta-hydroxysteroid-dehydrogenase-type-10-deficiency |
The prevalence of HSD10 deficiency is unknown. At least 11 affected |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
2-methyl-3-hydroxybutyric aciduria |
db |
key |
2009-10 |
2017-12-29 |
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(developmental regression: before 5) |
individuals have been identified. |
html:p |
17β-hydroxysteroid dehydrogenase type 10 (HSD10) deficiency is a disorder that |
xd |
X-linked dominant |
HSD17B10 |
https://ghr.nlm.nih.gov/gene/HSD17B10 |
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency |
GTR |
C1845517 |
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(vision loss) |
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affects many parts of the body. This condition is typically more severe in males |
2M3HBA |
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(hearing loss) |
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than in females. Males with HSD10 deficiency have normal early development but |
3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency |
MeSH |
D028361 |
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soon begin to lose skills they have acquired. This developmental regression |
3H2MBD deficiency |
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typically occurs before age 5 and results in intellectual disability and loss of |
HSD10 deficiency |
OMIM |
300438 |
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motor skills such as sitting, standing, and walking. Affected males frequently |
hydroxyacyl-CoA dehydrogenase II deficiency |
db |
key |
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have weak muscle tone (hypotonia), recurrent seizures (epilepsy), and movement |
MHBD deficiency |
SNOMED CT |
791000124107 |
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problems. Progressive vision and hearing loss is also common in males with HSD10 |
db |
key |
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deficiency. |
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SNOMED CT |
801000124108 |
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html:p |
Females with HSD10 deficiency may have developmental delay, learning problems, |
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or intellectual disability, but they do not experience developmental regression. |
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Some females may have additional features of this condition, such as epilepsy, |
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movement problems, and hearing loss. |
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| 9 |
17q12 deletion syndrome |
https://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome |
The worldwide prevalence of 17q12 deletion syndrome is unknown, although |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
17q12 chromosomal microdeletion |
db |
key |
2017-04 |
2017-12-29 |
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the condition appears to be rare. One study estimated that 17q12 deletion |
html:p |
17q12 deletion syndrome is a condition that results from the deletion of a small |
ad |
autosomal dominant |
HNF1B |
https://ghr.nlm.nih.gov/gene/HNF1B |
17q12 microdeletion |
GTR |
C3281138 |
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syndrome occurs in 1 in 14,500 people in Iceland. |
piece of chromosome 17 in each cell. The deletion occurs on the long (q) arm of |
related-gene |
gene-symbol |
ghr-page |
17q12 recurrent deletion syndrome |
db |
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the chromosome at a position designated q12. |
LHX1 |
https://ghr.nlm.nih.gov/gene/LHX1 |
deletion 17q12 |
GeneReviews |
mdel17q12 |
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html:p |
The signs and symptoms of 17q12 deletion syndrome vary widely, even among |
related-chromosome |
name |
ghr-page |
recurrent genomic rearrangement in chromosome 17q12 |
db |
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affected members of the same family. Among the more common features associated |
17 |
https://ghr.nlm.nih.gov/chromosome/17 |
MeSH |
D001523 |
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with this chromosomal change are problems with development or function of the |
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kidneys and urinary system. These abnormalities range from very severe |
MeSH |
D002872 |
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malformations, leading to kidney failure before birth, to mild or no problems |
db |
key |
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with kidney and urinary tract function. Fluid-filled sacs (cysts) in the kidneys |
MeSH |
D003920 |
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are particularly common. Many affected individuals also develop a form of |
db |
key |
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diabetes called maturity-onset diabetes of the young type 5 (MODY5), which is |
MeSH |
D007674 |
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caused by a malfunction of certain cells in the pancreas. MODY5 usually appears |
db |
key |
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in adolescence or early adulthood, most often before age 25. The combination of |
OMIM |
614527 |
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kidney cysts and MODY5 is sometimes referred to as renal cysts and diabetes |
db |
key |
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(RCAD) syndrome. |
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Orphanet |
261265 |
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html:p |
About half of people with 17q12 deletion syndrome have delayed development |
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(particularly speech and language delays), intellectual disability, or |
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behavioral or psychiatric disorders. Behavioral and psychiatric conditions that |
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have been reported in people with 17q12 deletion syndrome include autism |
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spectrum disorder (which affects social interaction and communication), |
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schizophrenia, anxiety, and bipolar disorder. |
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html:p |
Less commonly, 17q12 deletion syndrome also causes abnormalities of the eyes, |
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liver, brain, genitalia, and other body systems. Some females with this |
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chromosomal change have Mayer-Rokitansky-Küster-Hauser syndrome, which is |
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characterized by underdevelopment or absence of the vagina and uterus. 17q12 |
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deletion syndrome is also sometimes associated with subtle differences in facial |
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features. |
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| 10 |
17q12 duplication |
https://ghr.nlm.nih.gov/condition/17q12-duplication |
17q12 duplications appear to be uncommon. Several dozen people with this |
html |
code |
memo |
related-chromosome |
name |
ghr-page |
17q12 duplication syndrome |
db |
key |
2017-04 |
2017-12-29 |
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(some may not have any signs) |
chromosomal change have been described in the medical literature. |
html:p |
17q12 duplication is a chromosomal change in which a small piece of chromosome |
ad |
autosomal dominant |
17 |
https://ghr.nlm.nih.gov/chromosome/17 |
17q12 microduplication |
GTR |
C3281137 |
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17 is copied (duplicated) abnormally in each cell. The duplication occurs on the |
17q12 microduplication syndrome |
db |
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long (q) arm of the chromosome at a position designated q12. |
17q12 recurrent duplication |
GeneReviews |
dup17q12 |
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html:p |
Signs and symptoms related to 17q12 duplications vary significantly, even among |
chromosome 17q12 duplication syndrome |
db |
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members of the same family. Some individuals with the duplication have no |
recurrent duplication of 17q12 |
MeSH |
D002658 |
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apparent signs or symptoms, or the features are very mild. Other individuals can |
db |
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have intellectual disability, delayed development, and a wide range of physical |
MeSH |
D008607 |
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abnormalities. |
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db |
key |
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html:p |
Intellectual and learning ability in people with 17q12 duplications ranges from |
MeSH |
D012640 |
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normal to severely impaired. Many affected individuals have delayed development, |
db |
key |
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particularly involving speech and language skills and gross motor skills such |
MeSH |
D058674 |
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sitting, standing, and walking. Seizures are also common. Behavioral and |
db |
key |
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psychiatric conditions that have been reported in people with 17q12 duplications |
OMIM |
614526 |
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include autism spectrum disorder (which affects social interaction and |
db |
key |
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communication), schizophrenia, aggression, and self-injury. About half of |
Orphanet |
261272 |
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affected individuals have an unusually small head (microcephaly). |
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html:p |
Less commonly, 17q12 duplications have been associated with abnormalities of the |
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eyes, heart, kidneys, and brain. Some individuals with this chromosomal change |
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have subtle differences in facial features, although these are not consistent. |
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| 11 |
19p13.13 deletion syndrome |
https://ghr.nlm.nih.gov/condition/19p1313-deletion-syndrome |
This condition appears to be rare. About 10 affected individuals have been |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
19p13.13 microdeletion |
db |
key |
2016-06 |
2017-12-29 |
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described in the medical literature. |
html:p |
19p13.13 deletion syndrome is a condition that results from a chromosomal change |
n |
not inherited |
BEST2 |
https://ghr.nlm.nih.gov/gene/BEST2 |
19p13.13 microdeletion syndrome |
GTR |
C3150894 |
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in which a small piece of chromosome 19 is deleted in each cell. The deletion |
related-gene |
gene-symbol |
ghr-page |
chromosome 19p13.13 deletion syndrome |
db |
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occurs on the short (p) arm of the chromosome at a position designated p13.13. |
CACNA1A |
https://ghr.nlm.nih.gov/gene/CACNA1A |
MeSH |
D025063 |
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html:p |
Features commonly associated with this chromosomal change include an unusually |
related-gene |
gene-symbol |
ghr-page |
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key |
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large head size (macrocephaly), tall stature, and intellectual disability that |
CALR |
https://ghr.nlm.nih.gov/gene/CALR |
OMIM |
613638 |
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is usually moderate in severity. Many affected individuals have significantly |
related-gene |
gene-symbol |
ghr-page |
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* |
delayed development, including speech, and children may speak few or no words. |
MAST1 |
https://ghr.nlm.nih.gov/gene/MAST1 |
Orphanet |
357001 |
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Weak muscle tone (hypotonia) and problems with coordinating muscle movement |
related-gene |
gene-symbol |
ghr-page |
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(ataxia) contribute to delays in gross motor skills (such as sitting and |
NFIX |
https://ghr.nlm.nih.gov/gene/NFIX |
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walking) and fine motor skills (such as holding a pencil). |
related-chromosome |
name |
ghr-page |
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html:p |
Other signs and symptoms that can occur with 19p13.13 deletion syndrome include |
19 |
https://ghr.nlm.nih.gov/chromosome/19 |
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seizures, abnormalities of brain structure, and subtle differences in facial |
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features (such as a prominent forehead). Many affected individuals have problems |
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with feeding and digestion, including constipation, diarrhea, vomiting, and |
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abdominal pain. Eye problems that can impair vision are also common. These |
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include eyes that do not point in the same direction (strabismus) and |
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underdevelopment of the optic nerves, which carry visual information from the |
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eyes to the brain. |
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html:p |
The signs and symptoms of 19p13.13 deletion syndrome vary among affected |
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individuals. In part, this variation occurs because the size of the deletion, |
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and the number of genes it affects, varies from person to person. |
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1p31.3 del |
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| 12 |
1p36 deletion syndrome |
https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome |
1p36 deletion syndrome is believed to affect between 1 in 5,000 and 1 in |
html |
code |
memo |
related-chromosome |
name |
ghr-page |
chromosome 1p36 deletion syndrome |
db |
key |
2014-01 |
2017-12-29 |
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10,000 newborns. However, this may be an underestimate because some affected |
html:p |
1p36 deletion syndrome is a disorder that typically causes severe intellectual |
n |
not inherited |
1 |
https://ghr.nlm.nih.gov/chromosome/1 |
distal monosomy 1p36 |
GTR |
C1842870 |
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individuals are likely never diagnosed. |
disability. Most affected individuals do not speak, or speak only a few words. |
monosomy 1p36 syndrome |
db |
key |
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They may have temper tantrums, bite themselves, or exhibit other behavior |
GeneReviews |
del1p36 |
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problems. Most have structural abnormalities of the brain, and seizures occur in |
db |
key |
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more than half of individuals with this disorder. Affected individuals usually |
MeSH |
D025063 |
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have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia). |
db |
key |
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html:p |
People with 1p36 deletion syndrome have a small head that is also unusually |
OMIM |
607872 |
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short and wide in proportion to its size (microbrachycephaly). Affected |
db |
key |
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individuals also have distinctive facial features including deep-set eyes with |
Orphanet |
1606 |
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straight eyebrows; a sunken appearance of the middle of the face (midface |
db |
key |
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hypoplasia); a broad, flat nose; a long area between the nose and mouth |
SNOMED CT |
699306003 |
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(philtrum); a pointed chin; and ears that are low-set, rotated backwards, and |
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abnormally shaped. |
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html:p |
People with 1p36 deletion syndrome may have vision or hearing problems. Some |
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have abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or |
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genitalia. |
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| 13 |
1q21.1 microdeletion |
https://ghr.nlm.nih.gov/condition/1q211-microdeletion |
1q21.1 microdeletion is a rare chromosomal change; only a few dozen |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
1q21.1 contiguous gene deletion |
db |
key |
2012-10 |
2017-12-29 |
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individuals with this deletion have been reported in the medical literature. |
html:p |
1q21.1 microdeletion is a chromosomal change in which a small piece of |
ad |
autosomal dominant |
ACP6 |
https://ghr.nlm.nih.gov/gene/ACP6 |
1q21.1 deletion |
GTR |
C2675897 |
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chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of |
related-gene |
gene-symbol |
ghr-page |
chromosome 1q21.1 deletion syndrome |
db |
key |
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the chromosome in a region designated q21.1. This chromosomal change increases |
BCL9 |
https://ghr.nlm.nih.gov/gene/BCL9 |
chromosome 1q21.1 deletion syndrome, 1.35-Mb |
GeneReviews |
mdel1q21_1 |
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the risk of delayed development, intellectual disability, physical |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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abnormalities, and neurological and psychiatric problems. However, some people |
CHD1L |
https://ghr.nlm.nih.gov/gene/CHD1L |
MeSH |
D025063 |
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with a 1q21.1 microdeletion do not appear to have any associated features. |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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html:p |
About 75 percent of all children with a 1q21.1 microdeletion have delayed |
FMO5 |
https://ghr.nlm.nih.gov/gene/FMO5 |
OMIM |
612474 |
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development, particularly affecting the development of motor skills such as |
related-gene |
gene-symbol |
ghr-page |
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db |
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sitting, standing, and walking. The intellectual disability and learning |
GJA5 |
https://ghr.nlm.nih.gov/gene/GJA5 |
Orphanet |
250989 |
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problems associated with this genetic change are usually mild. |
related-gene |
gene-symbol |
ghr-page |
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html:p |
Distinctive facial features can also be associated with 1q21.1 microdeletions. |
GJA8 |
https://ghr.nlm.nih.gov/gene/GJA8 |
SNOMED CT |
699305004 |
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The changes are usually subtle and can include a prominent forehead; a large, |
related-gene |
gene-symbol |
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rounded nasal tip; a long space between the nose and upper lip (philtrum); and a |
GPR89B |
https://ghr.nlm.nih.gov/gene/GPR89B |
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high, arched roof of the mouth (palate). Other common signs and symptoms of |
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gene-symbol |
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1q21.1 microdeletions include an unusually small head (microcephaly), short |
HYDIN |
https://ghr.nlm.nih.gov/gene/HYDIN |
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stature, and eye problems such as clouding of the lenses (cataracts). Less |
related-gene |
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frequently, 1q21.1 microdeletions are associated with heart defects, |
PRKAB2 |
https://ghr.nlm.nih.gov/gene/PRKAB2 |
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abnormalities of the genitalia or urinary system, bone abnormalities |
related-chromosome |
name |
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(particularly in the hands and feet), and hearing loss. |
1 |
https://ghr.nlm.nih.gov/chromosome/1 |
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html:p |
Neurological problems that have been reported in people with a 1q21.1 |
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microdeletion include seizures and weak muscle tone (hypotonia). Psychiatric or |
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behavioral problems affect a small percentage of people with this genetic |
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change. These include developmental conditions called autism spectrum disorders |
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that affect communication and social interaction, attention deficit |
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hyperactivity disorder (ADHD), and sleep disturbances. Studies suggest that |
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deletions of genetic material from the 1q21.1 region may also be risk factors |
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for schizophrenia. |
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html:p |
Some people with a 1q21.1 microdeletion do not have any of the intellectual, |
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physical, or psychiatric features described above. In these individuals, the |
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microdeletion is often detected when they undergo genetic testing because they |
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have a relative with the chromosomal change. It is unknown why 1q21.1 |
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microdeletions cause cognitive and physical changes in some individuals but few |
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or no health problems in others, even within the same family. |
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| 14 |
1q21.1 microduplication |
https://ghr.nlm.nih.gov/condition/1q211-microduplication |
1q21.1 microduplications occur in about 3 in 10,000 individuals in the |
html |
code |
memo |
related-chromosome |
name |
ghr-page |
1q21.1 duplication |
db |
key |
2014-11 |
2017-12-29 |
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general population. Studies suggest that these chromosomal changes are 15 to 20 |
html:p |
1q21.1 microduplication is a chromosomal change in which a small amount of |
ad |
autosomal dominant |
1 |
https://ghr.nlm.nih.gov/chromosome/1 |
1q21.1 duplication syndrome |
GTR |
C2675891 |
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times more common in people with schizophrenia or tetralogy of Fallot. Many |
genetic material on chromosome 1 is abnormally copied (duplicated). The |
db |
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people with 1q21.1 microduplications are likely never diagnosed because the |
duplication occurs on the long (q) arm of the chromosome at a location |
|
MeSH |
D025063 |
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features of this condition can have a variety of causes. In addition, some |
designated q21.1. |
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people with this chromosomal change have no related health or developmental |
html:p |
Some people with a 1q21.1 microduplication have developmental delay and |
OMIM |
612475 |
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problems that would bring them to medical attention. |
intellectual disability that is typically mild to moderate. Individuals with |
db |
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this condition can also have features of autism spectrum disorders. These |
Orphanet |
250994 |
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disorders are characterized by impaired communication and socialization skills, |
db |
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as well as delayed development of speech and language. Expressive language |
SNOMED CT |
79649006 |
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skills (vocabulary and the production of speech) tend to be more impaired than |
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receptive language skills (the ability to understand speech) in affected |
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individuals. In childhood, 1q21.1 microduplications may also be associated with |
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an increased risk of attention deficit hyperactivity disorder and other |
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behavioral problems. Psychiatric disorders such as schizophrenia or mood |
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disorders such as anxiety or depression occur in some affected individuals, |
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usually during adulthood. Rarely, recurrent seizures (epilepsy) occur in people |
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with a 1q21.1 microduplication. |
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html:p |
Some individuals with a 1q21.1 microduplication are born with malformations of |
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the heart, including a particular combination of heart defects known as |
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tetralogy of Fallot. Less commonly, other physical malformations such as the |
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urethra opening on the underside of the penis (hypospadias) in males, inward- |
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and upward-turning feet (clubfeet), or misalignment of the hip joint (hip |
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dysplasia) are present at birth. Individuals with a 1q21.1 microduplication may |
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also have a larger than average head size or taller than average adult stature. |
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Some have slightly unusual facial features such as wide-set eyes or low-set |
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ears. As adults, individuals with a 1q21.1 microduplication may be prone to |
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develop cysts, swollen and knotted (varicose) veins, or carpal tunnel syndrome, |
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which is characterized by numbness, tingling, and weakness in the hands and |
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fingers. However, there is no particular pattern of physical abnormalities that |
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characterizes 1q21.1 microduplications. Signs and symptoms related to the |
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chromosomal change vary even among affected members of the same family. Some |
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people with the duplication have no identified physical, intellectual, or |
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behavioral abnormalities. |
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| 15 |
2-hydroxyglutaric aciduria |
https://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria |
2-hydroxyglutaric aciduria is a rare disorder. D-2-HGA and L-2-HGA have |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
2-HGA |
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2013-08 |
2017-12-29 |
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( neurometabolic disorder ) |
each been reported to affect fewer than 150 individuals worldwide. Combined |
html:p |
2-hydroxyglutaric aciduria is a condition that causes progressive damage to the |
ad |
autosomal dominant |
D2HGDH |
https://ghr.nlm.nih.gov/gene/D2HGDH |
GTR |
C1855995 |
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D,L-2-HGA appears to be even rarer, with only about a dozen reported cases. |
brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
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(D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined |
ar |
autosomal recessive |
IDH2 |
https://ghr.nlm.nih.gov/gene/IDH2 |
GTR |
C2746066 |
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D,L-2-hydroxyglutaric aciduria (D,L-2-HGA). |
related-gene |
gene-symbol |
ghr-page |
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html:p |
The main features of D-2-HGA are delayed development, seizures, weak muscle tone |
L2HGDH |
https://ghr.nlm.nih.gov/gene/L2HGDH |
GTR |
C3150909 |
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(hypotonia), and abnormalities in the largest part of the brain (the cerebrum), |
related-gene |
gene-symbol |
ghr-page |
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which controls many important functions such as muscle movement, speech, |
SLC25A1 |
https://ghr.nlm.nih.gov/gene/SLC25A1 |
GTR |
C3152055 |
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vision, thinking, emotion, and memory. Researchers have described two subtypes |
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of D-2-HGA, type I and type II. The two subtypes are distinguished by their |
MeSH |
D020739 |
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genetic cause and pattern of inheritance, although they also have some |
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differences in signs and symptoms. Type II tends to begin earlier and often |
OMIM |
236792 |
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causes more severe health problems than type I. Type II may also be associated |
db |
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with a weakened and enlarged heart (cardiomyopathy), a feature that is typically |
OMIM |
600721 |
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not found with type I. |
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html:p |
L-2-HGA particularly affects a region of the brain called the cerebellum, which |
OMIM |
613657 |
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is involved in coordinating movements. As a result, many affected individuals |
db |
key |
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have problems with balance and muscle coordination (ataxia). Additional features |
OMIM |
615182 |
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of L-2-HGA can include delayed development, seizures, speech difficulties, and |
db |
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an unusually large head (macrocephaly). Typically, signs and symptoms of this |
Orphanet |
356978 |
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disorder begin during infancy or early childhood. The disorder worsens over |
db |
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time, usually leading to severe disability by early adulthood. |
|
Orphanet |
79314 |
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html:p |
Combined D,L-2-HGA causes severe brain abnormalities that become apparent in |
db |
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early infancy. Affected infants have severe seizures, weak muscle tone |
Orphanet |
79315 |
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(hypotonia), and breathing and feeding problems. They usually survive only into |
db |
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infancy or early childhood. |
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SNOMED CT |
237960000 |
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db |
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SNOMED CT |
237961001 |
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db |
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SNOMED CT |
698870008 |
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| 16 |
21-hydroxylase deficiency |
https://ghr.nlm.nih.gov/condition/21-hydroxylase-deficiency |
The classic forms of 21-hydroxylase deficiency occur in 1 in 15,000 |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
CAH1 |
db |
key |
2015-03 |
2017-12-29 |
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newborns. The prevalence of the non-classic form of 21-hydroxylase deficiency is |
html:p |
21-hydroxylase deficiency is an inherited disorder that affects the adrenal |
ar |
autosomal recessive |
CYP21A2 |
https://ghr.nlm.nih.gov/gene/CYP21A2 |
congenital adrenal hyperplasia 1 |
GTR |
C0852654 |
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estimated to be 1 in 1,000 individuals. The prevalence of both classic and |
glands. The adrenal glands are located on top of the kidneys and produce a |
congenital adrenal hyperplasia due to 21 hydroxylase deficiency |
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non-classic forms varies among different ethnic populations.21-hydroxylase |
variety of hormones that regulate many essential functions in the body. In |
CYP21 deficiency |
GeneReviews |
cah |
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deficiency is one of a group of disorders known as congenital adrenal |
people with 21-hydroxylase deficiency, the adrenal glands produce excess |
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hyperplasias that impair hormone production and disrupt sexual development. |
androgens, which are male sex hormones. |
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ICD-10-CM |
E25.0 |
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21-hydroxylase deficiency is responsible for about 95 percent of all cases of |
html:p |
There are three types of 21-hydroxylase deficiency. Two types are classic forms, |
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congenital adrenal hyperplasia. |
known as the salt-wasting and simple virilizing types. The third type is called |
MeSH |
D000312 |
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the non-classic type. The salt-wasting type is the most severe, the simple |
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virilizing type is less severe, and the non-classic type is the least severe |
|
OMIM |
201910 |
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form. |
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db |
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html:p |
Males and females with either classic form of 21-hydroxylase deficiency tend to |
Orphanet |
418 |
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have an early growth spurt, but their final adult height is usually shorter than |
db |
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others in their family. Additionally, affected individuals may have a reduced |
SNOMED CT |
124221007 |
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ability to have biological children (decreased fertility). Females may also |
db |
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develop excessive body hair growth (hirsutism), male pattern baldness, and |
SNOMED CT |
237753002 |
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irregular menstruation. |
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db |
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html:p |
Approximately 75 percent of individuals with classic 21-hydroxylase deficiency |
SNOMED CT |
52604008 |
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have the salt-wasting type. Hormone production is extremely low in this form of |
db |
key |
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the disorder. Affected individuals lose large amounts of sodium in their urine, |
SNOMED CT |
71578002 |
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which can be life-threatening in early infancy. Babies with the salt-wasting |
db |
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type can experience poor feeding, weight loss, dehydration, and vomiting. |
SNOMED CT |
717261006 |
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Individuals with the simple virilizing form do not experience salt loss. |
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html:p |
In both the salt-wasting and simple virilizing forms of this disorder, females |
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typically have external genitalia that do not look clearly male or female |
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(ambiguous genitalia). Males usually have normal genitalia, but the testes may |
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be small. |
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html:p |
Females with the non-classic type of 21-hydroxylase deficiency have normal |
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female genitalia. As affected females get older, they may experience hirsutism, |
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male pattern baldness, irregular menstruation, and decreased fertility. Males |
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with the non-classic type may have early beard growth and small testes. Some |
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individuals with this type of 21-hydroxylase deficiency have no symptoms of the |
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disorder. |
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| 17 |
22q11.2 deletion syndrome |
https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome |
22q11.2 deletion syndrome affects an estimated 1 in 4,000 people. However, |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
22q11.2DS |
db |
key |
2013-07 |
2017-12-29 |
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DiGeorge syndrome |
the condition may actually be more common than this estimate because doctors and |
html:p |
22q11.2 deletion syndrome (which is also known by several other names, listed |
ad |
autosomal dominant |
COMT |
https://ghr.nlm.nih.gov/gene/COMT |
autosomal dominant Opitz G/BBB syndrome |
GTR |
C0012236 |
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DiGeorge综合症 |
researchers suspect it is underdiagnosed due to its variable features. The |
below) is a disorder caused by the deletion of a small piece of chromosome 22. |
related-gene |
gene-symbol |
ghr-page |
CATCH22 |
db |
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迪喬治症候群 |
condition may not be identified in people with mild signs and symptoms, or it |
The deletion occurs near the middle of the chromosome at a location designated |
TBX1 |
https://ghr.nlm.nih.gov/gene/TBX1 |
Cayler cardiofacial syndrome |
GTR |
C0220704 |
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may be mistaken for other disorders with overlapping features. |
q11.2. |
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related-chromosome |
name |
ghr-page |
conotruncal anomaly face syndrome (CTAF) |
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html:p |
22q11.2 deletion syndrome has many possible signs and symptoms that can affect |
22 |
https://ghr.nlm.nih.gov/chromosome/22 |
deletion 22q11.2 syndrome |
GTR |
C0431406 |
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almost any part of the body. The features of this syndrome vary widely, even |
DiGeorge syndrome |
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among affected members of the same family. Common signs and symptoms include |
Sedlackova syndrome |
GTR |
C1801950 |
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heart abnormalities that are often present from birth, an opening in the roof of |
Shprintzen syndrome |
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the mouth (a cleft palate), and distinctive facial features. People with |
VCFS |
GeneReviews |
gr_22q11deletion |
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22q11.2 deletion syndrome often experience recurrent infections caused by |
velo-cardio-facial syndrome |
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problems with the immune system, and some develop autoimmune disorders such as |
velocardiofacial syndrome |
ICD-10-CM |
D82.1 |
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rheumatoid arthritis and Graves disease in which the immune system attacks the |
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body's own tissues and organs. Affected individuals may also have breathing |
ICD-10-CM |
Q93.81 |
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problems, kidney abnormalities, low levels of calcium in the blood (which can |
db |
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result in seizures), a decrease in blood platelets (thrombocytopenia), |
MeSH |
D004062 |
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significant feeding difficulties, gastrointestinal problems, and hearing loss. |
db |
key |
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Skeletal differences are possible, including mild short stature and, less |
OMIM |
145410 |
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frequently, abnormalities of the spinal bones. |
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html:p |
Many children with 22q11.2 deletion syndrome have developmental delays, |
OMIM |
188400 |
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including delayed growth and speech development, and learning disabilities. |
db |
key |
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Later in life, they are at an increased risk of developing mental illnesses such |
OMIM |
192430 |
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as schizophrenia, depression, anxiety, and bipolar disorder. Additionally, |
db |
key |
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affected children are more likely than children without 22q11.2 deletion |
|
Orphanet |
567 |
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syndrome to have attention deficit hyperactivity disorder (ADHD) and |
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developmental conditions such as autism spectrum disorders that affect |
SNOMED CT |
449818005 |
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communication and social interaction. |
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html:p |
Because the signs and symptoms of 22q11.2 deletion syndrome are so varied, |
SNOMED CT |
77128003 |
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different groupings of features were once described as separate conditions. |
db |
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Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome |
SNOMED CT |
83092002 |
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(also called Shprintzen syndrome), and conotruncal anomaly face syndrome. In |
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addition, some children with the 22q11.2 deletion were diagnosed with the |
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autosomal dominant form of Opitz G/BBB syndrome and Cayler cardiofacial |
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syndrome. Once the genetic basis for these disorders was identified, doctors |
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determined that they were all part of a single syndrome with many possible signs |
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and symptoms. To avoid confusion, this condition is usually called 22q11.2 |
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deletion syndrome, a description based on its underlying genetic cause. |
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| 18 |
22q11.2 duplication |
https://ghr.nlm.nih.gov/condition/22q112-duplication |
The prevalence of the 22q11.2 duplication in the general population is |
html |
code |
memo |
related-chromosome |
name |
ghr-page |
chromosome 22q11.2 duplication syndrome |
db |
key |
2015-01 |
2017-12-29 |
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(physical) |
difficult to determine. Because many individuals with this duplication have no |
html:p |
22q11.2 duplication is a condition caused by an extra copy of a small piece of |
ad |
autosomal dominant |
22 |
https://ghr.nlm.nih.gov/chromosome/22 |
chromosome 22q11.2 microduplication syndrome |
GTR |
C2675369 |
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(intellectual) |
associated symptoms, their duplication may never be detected.Most people tested |
chromosome 22. The duplication occurs near the middle of the chromosome at a |
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for the 22q11.2 duplication have come to medical attention as a result of |
location designated q11.2. |
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GeneReviews |
dupl22q11 |
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developmental delay or other problems affecting themselves or a family member. |
html:p |
The features of this condition vary widely, even among members of the same |
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In one study, about 1 in 700 people tested for these reasons had the 22q11.2 |
family. Affected individuals may have developmental delay, intellectual |
MeSH |
D025063 |
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duplication. Overall, more than 60 individuals with the duplication have been |
disability, slow growth leading to short stature, and weak muscle tone |
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identified. |
(hypotonia). Many people with the duplication have no apparent physical or |
OMIM |
608363 |
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intellectual disabilities. |
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SNOMED CT |
699311001 |
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22q13 Deletion Syndrome |
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| 19 |
22q13.3 deletion syndrome |
https://ghr.nlm.nih.gov/condition/22q133-deletion-syndrome |
At least 500 cases of 22q13.3 deletion syndrome are known. |
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code |
memo |
related-gene |
gene-symbol |
ghr-page |
22q13 deletion syndrome |
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2009-09 |
2017-12-29 |
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html:p |
22q13.3 deletion syndrome, which is also commonly known as Phelan-McDermid |
ad |
autosomal dominant |
SHANK3 |
https://ghr.nlm.nih.gov/gene/SHANK3 |
deletion 22q13 syndrome |
GTR |
C1853490 |
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syndrome, is a disorder caused by the loss of a small piece of chromosome 22. |
related-chromosome |
name |
ghr-page |
deletion 22q13.3 syndrome |
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The deletion occurs near the end of the chromosome at a location designated |
22 |
https://ghr.nlm.nih.gov/chromosome/22 |
monosomy 22q13 |
GeneReviews |
gr_22q13_3 |
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q13.3. |
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Phelan-McDermid syndrome |
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html:p |
The features of 22q13.3 deletion syndrome vary widely and involve many parts of |
MeSH |
D025063 |
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the body. Characteristic signs and symptoms include developmental delay, |
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moderate to profound intellectual disability, decreased muscle tone (hypotonia), |
OMIM |
606232 |
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and absent or delayed speech. Some people with this condition have autism or |
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autistic-like behavior that affects communication and social interaction, such |
Orphanet |
48652 |
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as poor eye contact, sensitivity to touch, and aggressive behaviors. They may |
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also chew on non-food items such as clothing. Less frequently, people with this |
SNOMED CT |
699310000 |
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condition have seizures. |
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html:p |
Individuals with 22q13.3 deletion syndrome tend to have a decreased sensitivity |
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to pain. Many also have a reduced ability to sweat, which can lead to a greater |
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risk of overheating and dehydration. Some people with this condition have |
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episodes of frequent vomiting and nausea (cyclic vomiting) and backflow of |
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stomach acids into the esophagus (gastroesophageal reflux). |
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html:p |
People with 22q13.3 deletion syndrome typically have distinctive facial |
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features, including a long, narrow head; prominent ears; a pointed chin; droopy |
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eyelids (ptosis); and deep-set eyes. Other physical features seen with this |
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condition include large and fleshy hands and/or feet, a fusion of the second and |
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third toes (syndactyly), and small or abnormal toenails. Some affected |
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individuals have rapid (accelerated) growth. |
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2p15-p16.1 Microdeletion |
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2q33.1 Deletion Syndrome |
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| 20 |
2q37 deletion syndrome |
https://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome |
2q37 deletion syndrome appears to be a rare condition, although its exact |
html |
code |
memo |
related-chromosome |
name |
ghr-page |
Albright hereditary osteodystrophy-like syndrome |
db |
key |
2009-04 |
2017-12-29 |
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短指(趾)智力障礙症候群 |
prevalence is unknown. Approximately 100 cases have been reported worldwide. |
html:p |
2q37 deletion syndrome is a condition that can affect many parts of the body. |
n |
not inherited |
2 |
https://ghr.nlm.nih.gov/chromosome/2 |
brachydactyly-mental retardation syndrome |
GTR |
C1838126 |
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brachydactyly-mental retardation syndrome |
This condition is characterized by weak muscle tone (hypotonia) in infancy, mild |
db |
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to severe intellectual disability and developmental delay, behavioral problems, |
GeneReviews |
del2q37_2 |
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characteristic facial features, and other physical abnormalities. |
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html:p |
Most babies with 2q37 deletion syndrome are born with hypotonia, which usually |
MeSH |
D025063 |
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improves with age. About 25 percent of people with this condition have autism, |
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a developmental condition that affects communication and social interaction. |
OMIM |
600430 |
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html:p |
The characteristic facial features associated with 2q37 deletion syndrome |
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include a prominent forehead, highly arched eyebrows, deep-set eyes, a flat |
Orphanet |
1001 |
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nasal bridge, a thin upper lip, and minor ear abnormalities. Other features of |
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this condition can include short stature, obesity, unusually short fingers and |
SNOMED CT |
702357000 |
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toes (brachymetaphalangy), sparse hair, heart defects, seizures, and an |
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inflammatory skin disorder called eczema. A few people with 2q37 deletion |
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syndrome have a rare form of kidney cancer called Wilms tumor. Some affected |
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individuals have malformations of the brain, gastrointestinal system, kidneys, |
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or genitalia. |
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| 21 |
3-beta-hydroxysteroid dehydrogenase deficiency |
https://ghr.nlm.nih.gov/condition/3-beta-hydroxysteroid-dehydrogenase-deficiency |
The exact prevalence of 3β-HSD deficiency is unknown. At least 60 affected |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
3 beta-HSD deficiency |
db |
key |
2015-04 |
2017-12-29 |
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individuals have been reported. |
html:p |
3-beta (β)-hydroxysteroid dehydrogenase (HSD) deficiency is an inherited |
ar |
autosomal recessive |
HSD3B2 |
https://ghr.nlm.nih.gov/gene/HSD3B2 |
3 beta-ol dehydrogenase deficiency |
GTR |
C0342471 |
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disorder that affects hormone-producing glands including the gonads (ovaries in |
3-beta–hydroxysteroid dehydrogenase deficiency |
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females and testes in males) and the adrenal glands. The gonads direct sexual |
3b-hydroxysteroid dehydrogenase deficiency |
ICD-10-CM |
E25.0 |
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development before birth and during puberty. The adrenal glands, which are |
3β-HSD deficiency |
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located on top of the kidneys, regulate the production of certain hormones and |
3β-HSD deficiency congenital adrenal hyperplasia |
MeSH |
D000312 |
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control salt levels in the body. People with 3β-HSD deficiency lack many of the |
3β-hydroxysteroid dehydrogenase deficiency |
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key |
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hormones that are made in these glands. 3β-HSD deficiency is one of a group of |
type II 3β-hydroxysteroid dehydrogenase deficiency |
OMIM |
201810 |
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disorders known as congenital adrenal hyperplasias that impair hormone |
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production and disrupt sexual development and maturation. |
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Orphanet |
90791 |
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html:p |
There are three types of 3β-HSD deficiency: the salt-wasting, non-salt-wasting, |
db |
key |
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and non-classic types. In the salt-wasting type, hormone production is extremely |
SNOMED CT |
124136000 |
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low. Individuals with this type lose large amounts of sodium in their urine, |
db |
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which can be life-threatening. Individuals affected with the salt-wasting type |
SNOMED CT |
54470008 |
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are usually diagnosed soon after birth due to complications related to a lack of |
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salt reabsorption, including dehydration, poor feeding, and vomiting. People |
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with the non-salt-wasting type of 3β-HSD deficiency produce enough hormone to |
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allow sodium reabsorption in the kidneys. Individuals with the non-classic type |
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have the mildest symptoms and do not experience salt wasting. |
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html:p |
In males with any type of 3β-HSD deficiency, problems with male sex hormones |
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lead to abnormalities of the external genitalia. These abnormalities range from |
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having the opening of the urethra on the underside of the penis (hypospadias) to |
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having external genitalia that do not look clearly male or female (ambiguous |
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genitalia). The severity of the genital abnormality does not consistently depend |
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on the type of the condition. Because of the hormone dysfunction in the testes, |
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males with 3β-HSD deficiency are frequently unable to have biological children |
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(infertile). |
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html:p |
Females with 3β-HSD deficiency may have slight abnormalities of the external |
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genitalia at birth. Females affected with the non-salt-wasting or non-classic |
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types are typically not diagnosed until mid-childhood or puberty, when they may |
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experience irregular menstruation, premature pubic hair growth, and excessive |
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body hair growth (hirsutism). Females with 3β-HSD deficiency have difficulty |
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conceiving a child (impaired fertility). |
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| 22 |
3-hydroxy-3-methylglutaryl-CoA lyase deficiency |
https://ghr.nlm.nih.gov/condition/3-hydroxy-3-methylglutaryl-coa-lyase-deficienc |
HMG-CoA lyase deficiency is a rare condition; it has been reported in fewer |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency |
db |
key |
2017-03 |
2017-12-29 |
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HMG-CoA裂解酶缺乏症 |
y |
than 100 individuals worldwide. Most people diagnosed with this disorder have |
html:p |
3-hydroxy-3-methylglutaryl-CoA lyase deficiency (also known as HMG-CoA lyase |
ar |
autosomal recessive |
HMGCL |
https://ghr.nlm.nih.gov/gene/HMGCL |
3-OH 3-CH3 glutaric aciduria |
GTR |
C0268601 |
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been from Saudi Arabia, Portugal, or Spain. |
deficiency) is an uncommon inherited disorder in which the body cannot process a |
3-OH 3-methyl glutaric aciduria |
db |
key |
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particular protein building block (amino acid) called leucine. Additionally, |
3HMG |
MeSH |
D000592 |
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the disorder prevents the body from making ketones, which are compounds that are |
Deficiency of hydroxymethylglutaryl-CoA lyase |
db |
key |
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used for energy during periods without food (fasting). |
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HMG |
OMIM |
246450 |
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html:p |
The signs and symptoms of HMG-CoA lyase deficiency usually appear within the |
HMG-CoA lyase deficiency |
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key |
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first year of life. The condition causes episodes of vomiting, diarrhea, |
Hydroxymethylglutaric aciduria |
Orphanet |
20 |
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dehydration, extreme tiredness (lethargy), and weak muscle tone (hypotonia). |
db |
key |
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During an episode, blood sugar levels can become dangerously low (hypoglycemia), |
SNOMED CT |
124611007 |
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and a buildup of harmful compounds can cause the blood to become too acidic |
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key |
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(metabolic acidosis). If untreated, the disorder can lead to breathing |
|
SNOMED CT |
410059004 |
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problems, convulsions, coma, and death. Episodes are often triggered by an |
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infection, fasting, strenuous exercise, or other types of stress. |
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html:p |
HMG-CoA lyase deficiency is sometimes mistaken for Reye syndrome, a severe |
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disorder that develops in children while they appear to be recovering from viral |
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infections such as chicken pox or flu. Most cases of Reye syndrome are |
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associated with the use of aspirin during these viral infections. |
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| 23 |
3-hydroxyacyl-CoA dehydrogenase deficiency |
https://ghr.nlm.nih.gov/condition/3-hydroxyacyl-coa-dehydrogenase-deficiency |
The exact incidence of 3-hydroxyacyl-CoA dehydrogenase deficiency is |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
3-alpha-hydroxyacyl-coenzyme A dehydrogenase deficiency |
db |
key |
2010-04 |
2017-12-29 |
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unknown; it has been reported in only a small number of people worldwide. |
html:p |
3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited condition that |
ar |
autosomal recessive |
HADH |
https://ghr.nlm.nih.gov/gene/HADH |
3-hydroxyacyl-coenzyme A dehydrogenase deficiency |
GTR |
C1291230 |
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prevents the body from converting certain fats to energy, particularly during |
deficiency of 3-hydroxyacyl-CoA dehydrogenase |
db |
key |
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prolonged periods without food (fasting). |
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HAD deficiency |
MeSH |
D008052 |
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html:p |
Initial signs and symptoms of this disorder typically occur during infancy or |
HADH deficiency |
db |
key |
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early childhood and can include poor appetite, vomiting, diarrhea, and lack of |
HADHSC deficiency |
OMIM |
231530 |
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energy (lethargy). Affected individuals can also have muscle weakness |
L-3-alpha-hydroxyacyl-CoA dehydrogenase, short chain, deficiency |
db |
key |
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(hypotonia), liver problems, low blood sugar (hypoglycemia), and abnormally high |
M/SCHAD deficiency |
Orphanet |
71212 |
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levels of insulin (hyperinsulinism). Insulin controls the amount of sugar that |
SCHAD deficiency |
db |
key |
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moves from the blood into cells for conversion to energy. Individuals with |
SNOMED CT |
124122005 |
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3-hydroxyacyl-CoA dehydrogenase deficiency are also at risk for complications |
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such as seizures, life-threatening heart and breathing problems, coma, and |
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sudden death. This condition may explain some cases of sudden infant death |
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syndrome (SIDS), which is defined as unexplained death in babies younger than 1 |
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year. |
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html:p |
Problems related to 3-hydroxyacyl-CoA dehydrogenase deficiency can be triggered |
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by periods of fasting or by illnesses such as viral infections. This disorder is |
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sometimes mistaken for Reye syndrome, a severe disorder that may develop in |
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children while they appear to be recovering from viral infections such as |
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chicken pox or flu. Most cases of Reye syndrome are associated with the use of |
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aspirin during these viral infections. |
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| 24 |
3-M syndrome |
https://ghr.nlm.nih.gov/condition/3-m-syndrome |
3-M syndrome is a rare disorder. About 50 individuals with this disorder |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
3-MSBN |
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key |
2008-06 |
2017-12-29 |
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have been identified worldwide. |
html:p |
3-M syndrome is a disorder that causes short stature (dwarfism), unusual facial |
ar |
autosomal recessive |
CUL7 |
https://ghr.nlm.nih.gov/gene/CUL7 |
dolichospondylic dysplasia |
GTR |
C1848862 |
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features, and skeletal abnormalities. The name of this condition comes from the |
Le Merrer syndrome |
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initials of three researchers who first identified it: Miller, McKusick, and |
three-M slender-boned nanism |
GeneReviews |
gr_3ms |
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Malvaux. |
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three M syndrome |
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html:p |
Individuals with 3-M syndrome grow extremely slowly before birth, and this slow |
Yakut short stature syndrome |
MeSH |
D004392 |
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growth continues throughout childhood and adolescence. They have low birth |
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weight and length and remain much smaller than others in their family, growing |
OMIM |
273750 |
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to an adult height of approximately 120 centimeters to 130 centimeters (4 feet |
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to 4 feet 6 inches). Affected individuals have a normally sized head that looks |
Orphanet |
2616 |
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disproportionately large in comparison with their body. The head may be |
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unusually long and narrow in shape (dolichocephalic). |
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SNOMED CT |
702342007 |
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html:p |
In addition to short stature, people with 3-M syndrome have a triangle-shaped |
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face with a broad, prominent forehead (frontal bossing) and a pointed chin; the |
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middle of the face is less prominent (hypoplastic midface). They may have large |
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ears, full eyebrows, an upturned nose with a fleshy tip, a long area between the |
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nose and mouth (philtrum), a prominent mouth, and full lips. |
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html:p |
Affected individuals may have a short, broad neck and chest with prominent |
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shoulder blades and square shoulders. They may have abnormal spinal curvature |
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such as a rounded upper back that also curves to the side (kyphoscoliosis) or |
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exaggerated curvature of the lower back (hyperlordosis). People with 3-M |
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syndrome may also have unusual curving of the fingers (clinodactyly), short |
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fifth (pinky) fingers, prominent heels, and loose joints. Other skeletal |
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abnormalities, such as unusually slender long bones in the arms and legs, tall, |
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narrow spinal bones (vertebrae), or slightly delayed bone age may be apparent in |
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x-ray images. |
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html:p |
3-M syndrome can also affect other body systems. Males with 3-M syndrome may |
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produce reduced amounts of sex hormones (hypogonadism) and occasionally have the |
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urethra opening on the underside of the penis (hypospadias). People with this |
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condition may be at increased risk of developing bulges in blood vessel walls |
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(aneurysms) in the brain. Intelligence is unaffected by 3-M syndrome, and life |
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expectancy is generally normal. |
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html:p |
A variant of 3-M syndrome called Yakut short stature syndrome has been |
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identified in an isolated population in Siberia. In addition to having most of |
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the physical features characteristic of 3-M syndrome, people with this form of |
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the disorder are often born with respiratory problems that can be |
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life-threatening in infancy. |
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| 25 |
3-methylcrotonyl-CoA carboxylase deficiency, 3MCC |
https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency |
This condition is detected in an estimated 1 in 36,000 newborns worldwide. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
3-MCC |
db |
key |
2008-10 |
2017-12-29 |
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3-甲基巴豆醯輔酵素羧化酵素缺乏症 |
html:p |
3-methylcrotonyl-CoA carboxylase deficiency (also known as 3-MCC deficiency) is |
ar |
autosomal recessive |
MCCC1 |
https://ghr.nlm.nih.gov/gene/MCCC1 |
3-MCC deficiency |
GTR |
C0268600 |
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an inherited disorder in which the body is unable to process certain proteins |
related-gene |
gene-symbol |
ghr-page |
3-methylcrotonyl-coenzyme A carboxylase deficiency |
db |
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properly. People with this disorder have a shortage of an enzyme that helps |
MCCC2 |
https://ghr.nlm.nih.gov/gene/MCCC2 |
3-methylcrotonylglycinuria |
GTR |
C1859499 |
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break down proteins containing a particular building block (amino acid) called |
3MCC |
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leucine. |
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BMCC deficiency |
GTR |
CN028786 |
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html:p |
Infants with 3-MCC deficiency appear normal at birth but usually develop signs |
Deficiency of methylcrotonoyl-CoA carboxylase |
db |
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and symptoms in infancy or early childhood. The characteristic features of this |
MCC deficiency |
MeSH |
D008661 |
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condition, which can range from mild to life-threatening, include feeding |
Methylcrotonyl-CoA carboxylase deficiency |
db |
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difficulties, recurrent episodes of vomiting and diarrhea, excessive tiredness |
OMIM |
210200 |
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(lethargy), and weak muscle tone (hypotonia). If untreated, this disorder can |
db |
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lead to delayed development, seizures, and coma. Many of these complications can |
OMIM |
210210 |
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be prevented with early detection and lifelong management with a low-protein |
db |
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diet and appropriate supplements. Some people with gene mutations that cause |
Orphanet |
6 |
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3-MCC deficiency never experience any signs or symptoms of the condition. |
db |
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html:p |
The characteristic features of 3-MCC deficiency are similar to those of Reye |
SNOMED CT |
13144005 |
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syndrome, a severe disorder that develops in children while they appear to be |
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recovering from viral infections such as chicken pox or flu. Most cases of Reye |
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syndrome are associated with the use of aspirin during these viral infections. |
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| 26 |
3-methylglutaconyl-CoA hydratase deficiency |
https://ghr.nlm.nih.gov/condition/3-methylglutaconyl-coa-hydratase-deficiency |
3-methylglutaconyl-CoA hydratase deficiency is a rare disorder; at least 20 |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
3-methylglutaconic aciduria, type I |
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2014-06 |
2017-12-29 |
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cases have been reported in the scientific literature. |
html:p |
3-methylglutaconyl-CoA hydratase deficiency is an inherited condition that |
ar |
autosomal recessive |
AUH |
https://ghr.nlm.nih.gov/gene/AUH |
3-MG-CoA-hydratase deficiency |
GTR |
C0342727 |
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causes neurological problems. Beginning in infancy to early childhood, children |
AUH defect |
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with this condition often have delayed development of mental and motor skills |
MGA, type I |
ICD-10-CM |
E71.111 |
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(psychomotor delay), speech delay, involuntary muscle cramping (dystonia), and |
MGA1 |
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spasms and weakness of the arms and legs (spastic quadriparesis). Affected |
MGCA1 |
MeSH |
D000592 |
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individuals can also have optic atrophy, which is the degeneration (atrophy) of |
primary 3-methylglutaconic aciduria |
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nerve cells that carry visual information from the eyes to the brain. |
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OMIM |
250950 |
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html:p |
In some cases, signs and symptoms of 3-methylglutaconyl-CoA hydratase deficiency |
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begin in adulthood, often in a person's twenties or thirties. These individuals |
Orphanet |
67046 |
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have damage to a type of brain tissue called white matter |
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(leukoencephalopathy), which likely contributes to progressive problems with |
SNOMED CT |
237951008 |
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speech (dysarthria), difficulty coordinating movements (ataxia), stiffness |
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(spasticity), optic atrophy, and a decline in intellectual function (dementia). |
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html:p |
Affected individuals who show symptoms of 3-methylglutaconyl-CoA hydratase |
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deficiency in childhood often go on to develop leukoencephalopathy and other |
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neurological problems in adulthood. |
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html:p |
All people with 3-methylglutaconyl-CoA hydratase deficiency accumulate large |
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amounts of a substance called 3-methylglutaconic acid in their body fluids. As a |
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result, they have elevated levels of acid in their blood (metabolic acidosis) |
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and excrete large amounts of acid in their urine (aciduria). |
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3-methylglutaconyl-CoA hydratase deficiency is one of a group of metabolic |
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disorders that can be diagnosed by the presence of increased levels |
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3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with |
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3-methylglutaconyl-CoA hydratase deficiency also have high urine levels of |
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another acid called 3-methylglutaric acid. |
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| 27 |
3MC syndrome |
https://ghr.nlm.nih.gov/condition/3mc-syndrome |
3MC syndrome is a rare disorder; its exact prevalence is unknown. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Carnevale-Krajewska-Fischetto syndrome |
db |
key |
2015-12 |
2017-12-29 |
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html:p |
3MC syndrome is a disorder characterized by unusual facial features and problems |
ar |
autosomal recessive |
COLEC11 |
https://ghr.nlm.nih.gov/gene/COLEC11 |
Carnevale syndrome |
GTR |
C0796032 |
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affecting other tissues and organs of the body. |
related-gene |
gene-symbol |
ghr-page |
craniofacial-ulnar-renal syndrome |
db |
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html:p |
The distinctive facial features of people with 3MC syndrome include widely |
MASP1 |
https://ghr.nlm.nih.gov/gene/MASP1 |
craniosynostosis with lid anomalies |
GTR |
C0796059 |
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spaced eyes (hypertelorism), a narrowing of the eye opening (blepharophimosis), |
Malpuech facial clefting syndrome |
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droopy eyelids (ptosis), highly arched eyebrows, and an opening in the upper lip |
Malpuech syndrome |
GTR |
C0796279 |
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(cleft lip) with an opening in the roof of the mouth (cleft palate). Common |
Michels syndrome |
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features affecting other body systems include developmental delay, intellectual |
Mingarelli syndrome |
GTR |
CN230015 |
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disability, hearing loss, and slow growth after birth resulting in short |
oculo-skeletal-abdominal syndrome |
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stature. Other features of 3MC syndrome can include abnormal fusion of certain |
oculopalatoskeletal syndrome |
MeSH |
D019465 |
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bones in the skull (craniosynostosis) or forearm (radioulnar synostosis); an |
OSA syndrome |
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outgrowth of the tailbone (caudal appendage); a soft out-pouching around the |
ptosis of eyelids with diastasis recti and hip dysplasia |
OMIM |
248340 |
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belly-button (an umbilical hernia); and abnormalities of the kidneys, bladder, |
ptosis-strabismus-rectus addominis diastasis |
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or genitals. |
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OMIM |
257920 |
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html:p |
3MC syndrome encompasses four disorders that were formerly considered to be |
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separate: Mingarelli, Malpeuch, Michels, and Carnevale syndromes. Researchers |
OMIM |
265050 |
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now generally consider these disorders to be part of the same condition, which |
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is called 3MC based on the initials of the older condition names. |
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Orphanet |
293843 |
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db |
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|
SNOMED CT |
720756005 |
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| 28 |
3p deletion syndrome |
https://ghr.nlm.nih.gov/condition/3p-deletion-syndrome |
3p deletion syndrome is likely a rare disorder; at least 30 cases have been |
html |
code |
memo |
related-chromosome |
name |
ghr-page |
3p partial monosomy syndrome |
db |
key |
2016-06 |
2017-12-29 |
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described in the scientific literature. |
html:p |
3p deletion syndrome is a condition that results from a chromosomal change in |
n |
not inherited |
3 |
https://ghr.nlm.nih.gov/chromosome/3 |
3p- syndrome |
GTR |
C0795806 |
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which a small piece of chromosome 3 is deleted in each cell. The deletion occurs |
chromosome 3, deletion 3p |
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at the end of the short (p) arm of the chromosome. This chromosomal change |
chromosome 3, monosomy 3p |
MeSH |
D002872 |
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often leads to intellectual disability, developmental delay, and abnormal |
chromosome 3p deletion syndrome |
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physical features. |
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del(3p) syndrome |
OMIM |
613792 |
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html:p |
Individuals with 3p deletion syndrome typically have severe to profound |
deletion 3p |
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intellectual disability. Most have delayed development of language skills as |
monosomy 3p |
Orphanet |
1620 |
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well as motor skills such as crawling and walking. While affected individuals |
partial monosomy 3p |
db |
key |
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learn to walk in childhood, their language ability usually remains limited. Some |
SNOMED CT |
449819002 |
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individuals with 3p deletion syndrome have obsessive-compulsive disorder (OCD) |
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or features of autism spectrum disorders, which are conditions characterized by |
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impaired communication and social interaction. |
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html:p |
The physical signs and symptoms of 3p deletion syndrome vary greatly. Many |
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affected individuals have slow growth, an abnormally small head (microcephaly), |
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a small jaw (micrognathia), droopy eyelids (ptosis), malformed ears or nose, and |
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widely spaced eyes (hypertelorism). Other frequent features include skin folds |
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covering the inner corner of the eyes (epicanthal folds), extra fingers or toes |
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(polydactyly), and an opening in the roof of the mouth (cleft palate). |
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Additionally, individuals with 3p deletion syndrome may have seizures, weak |
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muscle tone (hypotonia), intestinal abnormalities, or congenital heart defects. |
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| 29 |
3q29 microdeletion syndrome |
https://ghr.nlm.nih.gov/condition/3q29-microdeletion-syndrome |
3q29 microdeletion syndrome appears to be very rare. Based on a study from |
html |
code |
memo |
related-chromosome |
name |
ghr-page |
3q subtelomere deletion syndrome |
db |
key |
2017-08 |
2017-12-29 |
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3q29缺失症候群 |
Iceland, the condition has an estimated incidence of 1 in 30,000 to 40,000 |
html:p |
3q29 microdeletion syndrome (also known as 3q29 deletion syndrome) is a |
ad |
autosomal dominant |
3 |
https://ghr.nlm.nih.gov/chromosome/3 |
3q29 deletion syndrome |
GTR |
C2674949 |
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people in that population. About 75 affected individuals have been described in |
condition that results from the deletion of a small piece of chromosome 3 in |
3q29 recurrent deletion |
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the medical literature. |
each cell. The deletion occurs on the long (q) arm of the chromosome at a |
chromosome 3q29 deletion syndrome |
GeneReviews |
mdel3q29 |
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position designated q29. |
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microdeletion 3q29 syndrome |
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html:p |
The features associated with 3q29 microdeletion syndrome vary widely. Some |
monosomy 3q29 |
MeSH |
D002872 |
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individuals with this chromosomal change have very mild or no related signs and |
db |
key |
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symptoms, and the deletion is discovered through genetic testing only after a |
MeSH |
D008607 |
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family member is diagnosed. However, most people with a 3q29 microdeletion have |
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delayed development (particularly speech delay) and mild or moderate |
OMIM |
609425 |
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intellectual disability. They also have an increased risk of behavioral or |
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psychiatric disorders, including autism spectrum disorder (which affects social |
Orphanet |
65286 |
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interaction and communication), anxiety, bipolar disorder, and schizophrenia. |
db |
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html:p |
Infants with 3q29 microdeletion syndrome often have feeding difficulties and do |
SNOMED CT |
716456000 |
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not grow and gain weight at the expected rate (which is described as failure to |
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thrive). Weak muscle tone (hypotonia), recurrent ear infections, an unusually |
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small head (microcephaly), and yellowing of the skin and whites of the eyes |
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(jaundice) can also occur. Some affected babies are born with a heart defect, |
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most commonly an abnormal connection between two major arteries called patent |
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ductus arteriosus (PDA). |
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html:p |
Other possible features of 3q29 microdeletion syndrome include gastrointestinal |
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disorders, such as a backflow of acidic stomach contents into the esophagus |
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(gastroesophageal reflux), and abnormalities of the teeth. There may also be a |
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subtle pattern of characteristic facial features, including a long, narrow face; |
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a narrow space between the nose and upper lip (short philtrum); a high bridge |
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of the nose; and large ears. |
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| 30 |
3q29 microduplication syndrome |
https://ghr.nlm.nih.gov/condition/3q29-microduplication-syndrome |
3q29 microduplication syndrome appears to be very rare. Fewer than 30 |
html |
code |
memo |
related-chromosome |
name |
ghr-page |
3q29 interstitial microduplication |
db |
key |
2017-08 |
2017-12-29 |
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3q29擴增症候群 |
affected individuals have been described in the medical literature. |
html:p |
3q29 microduplication syndrome (also known as 3q29 duplication syndrome) is a |
ad |
autosomal dominant |
3 |
https://ghr.nlm.nih.gov/chromosome/3 |
3q29 microduplication |
GTR |
C2749873 |
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condition that results from the copying (duplication) of a small piece of |
chromosome 3q29 duplication syndrome |
db |
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chromosome 3 in each cell. The duplication occurs on the long (q) arm of the |
microduplication 3q29 syndrome |
MeSH |
D008607 |
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chromosome at a position designated q29. |
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trisomy 3q29 |
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html:p |
The features associated with 3q29 microduplication syndrome vary widely. Some |
MeSH |
D058674 |
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individuals with this chromosomal change have very mild or no related signs and |
db |
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symptoms, and the duplication is discovered because they undergo genetic testing |
OMIM |
611936 |
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only after a family member is diagnosed. Other people with a 3q29 |
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microduplication have delayed development (particularly speech delay) and |
Orphanet |
251038 |
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intellectual disability or learning difficulties. Although most affected |
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key |
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individuals have no major birth defects, eye abnormalities, heart defects, and |
SNOMED CT |
717973004 |
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an unusually small head (microcephaly) can occur. 3q29 microduplication syndrome |
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may increase the likelihood of being overweight or obese, although it is hard |
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to determine whether these weight issues are caused by the duplication. |
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| 31 |
46,XX testicular disorder of sex development |
https://ghr.nlm.nih.gov/condition/46xx-testicular-disorder-of-sex-development |
Approximately 1 in 20,000 individuals with a male appearance have 46,XX |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
46,XX sex reversal |
db |
key |
2008-11 |
2017-12-29 |
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testicular disorder. |
html:p |
46,XX testicular disorder of sex development is a condition in which individuals |
ad |
autosomal dominant |
SOX3 |
https://ghr.nlm.nih.gov/gene/SOX3 |
XX male syndrome |
GTR |
C2936420 |
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with two X chromosomes in each cell, the pattern normally found in females, |
related-gene |
gene-symbol |
ghr-page |
XX sex reversal |
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have a male appearance. People with this disorder have male external genitalia. |
SOX9 |
https://ghr.nlm.nih.gov/gene/SOX9 |
GeneReviews |
xxms |
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They generally have small testes and may also have abnormalities such as |
related-gene |
gene-symbol |
ghr-page |
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undescended testes (cryptorchidism) or the urethra opening on the underside of |
SRY |
https://ghr.nlm.nih.gov/gene/SRY |
MeSH |
D058531 |
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the penis (hypospadias). A small number of affected people have external |
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genitalia that do not look clearly male or clearly female (ambiguous genitalia). |
X |
https://ghr.nlm.nih.gov/chromosome/X |
OMIM |
400045 |
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Affected children are typically raised as males and have a male gender |
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identity. |
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Y |
https://ghr.nlm.nih.gov/chromosome/Y |
Orphanet |
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At puberty, most affected individuals require treatment with the male sex |
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hormone testosterone to induce development of male secondary sex characteristics |
SNOMED CT |
74398009 |
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such as facial hair and deepening of the voice (masculinization). Hormone |
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treatment can also help prevent breast enlargement (gynecomastia). Adults with |
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this disorder are usually shorter than average for males and are unable to have |
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children (infertile). |
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| 32 |
47,XYY syndrome |
https://ghr.nlm.nih.gov/condition/47xyy-syndrome |
This condition occurs in about 1 in 1,000 newborn boys. Five to 10 boys |
html |
code |
memo |
related-chromosome |
name |
ghr-page |
Jacob's syndrome |
db |
key |
2009-01 |
2017-12-29 |
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47,XYY 症候群 |
with 47,XYY syndrome are born in the United States each day. |
html:p |
47,XYY syndrome is characterized by an extra copy of the Y chromosome in each of |
n |
not inherited |
Y |
https://ghr.nlm.nih.gov/chromosome/Y |
XYY Karyotype |
GTR |
C3266843 |
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a male's cells. Although males with this condition may be taller than |
XYY syndrome |
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average, this chromosomal change typically causes no unusual physical features. |
YY syndrome |
ICD-10-CM |
Q98.5 |
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Most males with 47,XYY syndrome have normal sexual development and are able to |
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father children. |
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MeSH |
D014997 |
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html:p |
47,XYY syndrome is associated with an increased risk of learning disabilities |
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and delayed development of speech and language skills. Delayed development of |
Orphanet |
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motor skills (such as sitting and walking), weak muscle tone (hypotonia), hand |
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tremors or other involuntary movements (motor tics), and behavioral and |
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SNOMED CT |
50749006 |
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emotional difficulties are also possible. These characteristics vary widely |
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among affected boys and men. |
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html:p |
A small percentage of males with 47,XYY syndrome are diagnosed with autistic |
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spectrum disorders, which are developmental conditions that affect communication |
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and social interaction. |
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| 33 |
48,XXYY syndrome |
https://ghr.nlm.nih.gov/condition/48xxyy-syndrome |
48,XXYY syndrome is estimated to affect 1 in 18,000 to 40,000 males. |
html |
code |
memo |
related-chromosome |
name |
ghr-page |
XXYY syndrome |
db |
key |
2017-10 |
2017-12-29 |
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html:p |
48,XXYY syndrome is a chromosomal condition that causes infertility, |
n |
not inherited |
X |
https://ghr.nlm.nih.gov/chromosome/X |
GTR |
C2936741 |
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developmental and behavioral disorders, and other health problems in males. |
related-chromosome |
name |
ghr-page |
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db |
key |
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html:p |
48,XXYY disrupts male sexual development. Adolescent and adult males with this |
Y |
https://ghr.nlm.nih.gov/chromosome/Y |
MeSH |
D007713 |
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condition typically have small testes that do not produce enough testosterone, |
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which is the hormone that directs male sexual development. A shortage of |
Orphanet |
10 |
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testosterone during puberty can lead to reduced facial and body hair, poor |
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muscle development, low energy levels, and an increased risk for breast |
SNOMED CT |
403760006 |
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enlargement (gynecomastia). Because their testes do not function normally, males |
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with 48, XXYY syndrome have an inability to father children (infertility). |
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html:p |
48,XXYY syndrome can affect other parts of the body as well. Males with 48,XXYY |
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syndrome are often taller than other males their age with an average adult |
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height of 6 feet 4 inches (193 cm). They tend to develop a tremor that typically |
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starts in adolescence and increases with age. Dental problems are frequently |
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seen with this condition; they include delayed appearance of the primary (baby) |
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or secondary (adult) teeth, thin tooth enamel, crowded and/or misaligned teeth, |
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and multiple cavities. As affected males get older, they may develop a narrowing |
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of the blood vessels in the legs, called peripheral vascular disease. |
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Peripheral vascular disease can cause skin ulcers to form. Affected males are |
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also at risk for developing a type of clot called a deep vein thrombosis (DVT) |
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that occurs in the deep veins of the legs. Additionally, males with 48,XXYY |
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syndrome may have flat feet (pes planus), elbow abnormalities, abnormal fusion |
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of certain bones in the forearm (radioulnar synostosis), allergies, asthma, type |
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2 diabetes, seizures, and congenital heart defects. |
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html:p |
Most males with 48,XXYY syndrome have some degree of difficulty with speech and |
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language development. Learning disabilities, especially those that are |
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language-based, are very common in males with this disorder. Affected males seem |
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to perform better at tasks focused on math, visual-spatial skills such as |
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puzzles, and memorization of locations or directions. Some boys with 48,XXYY |
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syndrome have delayed development of motor skills such as sitting, standing, and |
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walking that can lead to poor coordination. Affected males have higher than |
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average rates of behavioral disorders, such as attention deficit hyperactivity |
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disorder (ADHD); mood disorders, including anxiety and bipolar disorder; and |
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autism spectrum disorder, which affects communication and social interaction. |
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| 34 |
5-alpha reductase deficiency |
https://ghr.nlm.nih.gov/condition/5-alpha-reductase-deficiency |
5-alpha reductase deficiency is a rare condition; the exact incidence is |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
familial incomplete male pseudohermaphroditism, type 2 |
db |
key |
2017-04 |
2017-12-29 |
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Steroid 5-alpha-reductase deficiency |
unknown. Large families with affected members have been found in several |
html:p |
5-alpha reductase deficiency is a condition that affects male sexual development |
ar |
autosomal recessive |
SRD5A2 |
https://ghr.nlm.nih.gov/gene/SRD5A2 |
male pseudohermaphroditism due to 5-alpha-reductase deficiency |
GTR |
C0268297 |
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SRD5A2酵素缺乏症 |
countries, including the Dominican Republic, Papua New Guinea, Turkey, and |
before birth and during puberty. People with this condition are genetically |
PPSH |
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Egypt. |
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male, with one X and one Y chromosome in each cell, and they have male gonads |
pseudovaginal perineoscrotal hypospadias |
MeSH |
D058490 |
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(testes). Their bodies, however, do not produce enough of a hormone called |
steroid 5-alpha-reductase deficiency |
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dihydrotestosterone (DHT). DHT has a critical role in male sexual development, |
OMIM |
264600 |
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and a shortage of this hormone disrupts the formation of the external sex organs |
db |
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before birth. |
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Orphanet |
753 |
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html:p |
Many people with 5-alpha reductase deficiency are born with external genitalia |
db |
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that appear female. In other cases, the external genitalia do not look clearly |
SNOMED CT |
57514000 |
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male or clearly female (sometimes called ambiguous genitalia). Still other |
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affected infants have genitalia that appear predominantly male, often with an |
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unusually small penis (micropenis) and the urethra opening on the underside of |
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the penis (hypospadias). |
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html:p |
During puberty, an increase in the levels of male sex hormones leads to the |
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development of some secondary sex characteristics, such as increased muscle |
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mass, deepening of the voice, development of pubic hair, and a growth spurt. The |
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penis and scrotum (the sac of skin that holds the testes) grow larger. Unlike |
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many men, people with 5-alpha reductase deficiency do not develop much facial or |
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body hair (low facial and body hair). Most affected individuals are unable to have biological children |
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without assisted reproduction (infertile). |
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html:p |
Children with 5-alpha reductase deficiency are often raised as girls. Some of |
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these individuals adopt a male gender role in adolescence or early adulthood, |
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while others adopt a female gender role. |
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| 35 |
5q minus syndrome |
https://ghr.nlm.nih.gov/condition/5q-minus-syndrome |
MDS affects nearly 1 in 20,000 people in the United States. It is thought |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
5q- syndrome |
db |
key |
2015-11 |
2017-12-29 |
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that 5q- syndrome accounts for 15 percent of MDS cases. Unlike other forms of |
html:p |
5q minus (5q-) syndrome is a type of bone marrow disorder called myelodysplastic |
n |
not inherited |
MIR145 |
https://ghr.nlm.nih.gov/gene/MIR145 |
chromosome 5q deletion syndrome |
GTR |
C0740302 |
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MDS, which occur more frequently in men than women, 5q- syndrome is more than |
syndrome (MDS). MDS comprises a group of conditions in which immature blood |
related-gene |
gene-symbol |
ghr-page |
myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality |
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twice as common in women. |
cells fail to develop normally, resulting in too many immature cells and too few |
MIR146A |
https://ghr.nlm.nih.gov/gene/MIR146A |
myelodysplastic syndrome with 5q deletion |
ICD-10-CM |
D46.C |
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normal mature blood cells. In 5q- syndrome, development of red blood cells is |
related-gene |
gene-symbol |
ghr-page |
myelodysplastic syndrome with 5q deletion syndrome |
db |
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particularly affected, leading to a shortage of these cells (anemia). In |
RPS14 |
https://ghr.nlm.nih.gov/gene/RPS14 |
refractory macrocytic anemia due to 5q deletion |
MeSH |
D009190 |
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addition, the red blood cells that are present are unusually large (macrocytic). |
related-chromosome |
name |
ghr-page |
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Although many people with 5q- syndrome have no symptoms related to anemia, |
5 |
https://ghr.nlm.nih.gov/chromosome/5 |
OMIM |
153550 |
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especially in the early stages of the condition, some affected individuals |
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develop extreme tiredness (fatigue), weakness, and an abnormally pale appearance |
SNOMED CT |
277597005 |
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(pallor) as the condition worsens. Individuals with 5q- syndrome also have |
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abnormal development of bone marrow cells called megakaryocytes, which produce |
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platelets, the cell fragments involved in blood clotting. A common finding in |
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people with 5q- syndrome is abnormal cells described as hypolobated |
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megakaryocytes. In addition, some individuals with 5q- syndrome have an excess |
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of platelets, while others have normal numbers of platelets. |
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html:p |
MDS is considered a slow-growing (chronic) blood cancer. It can progress to a |
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fast-growing blood cancer called acute myeloid leukemia (AML). Progression to |
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AML occurs less commonly in people with 5q- syndrome than in those with other |
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forms of MDS. |
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| 36 |
5q31.3 microdeletion syndrome |
https://ghr.nlm.nih.gov/condition/5q313-microdeletion-syndrome |
5q31.3 microdeletion syndrome is a very rare disorder. At least eight |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 |
db |
key |
2017-08 |
2017-12-29 |
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individuals with the condition have been described in the medical literature. |
html:p |
5q31.3 microdeletion syndrome is a condition characterized by severely delayed |
ad |
autosomal dominant |
NRG2 |
https://ghr.nlm.nih.gov/gene/NRG2 |
microdeletion |
GeneReviews |
pura-dis |
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development of speech and motor skills, such as walking. Beginning in infancy, |
related-gene |
gene-symbol |
ghr-page |
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affected individuals also have weak muscle tone (hypotonia), feeding |
PURA |
https://ghr.nlm.nih.gov/gene/PURA |
MeSH |
D065886 |
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difficulties, and breathing problems. Breathing problems and difficulty |
related-chromosome |
name |
ghr-page |
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swallowing (dysphagia) can be life-threatening. |
5 |
https://ghr.nlm.nih.gov/chromosome/5 |
Orphanet |
314655 |
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html:p |
5q31.3 microdeletion syndrome is also characterized by distinctive facial |
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features. Such features include a narrow forehead, widely spaced eyes |
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(hypertelorism), an open mouth with an upper lip that points outward (called a |
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tented lip), a high arch in the roof of the mouth (high-arched palate), a small |
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lower jaw (micrognathia), and a lack of facial expression. Some of these |
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features, such as an open mouth with a tented lip and an expressionless face, |
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are thought to be due to hypotonia. |
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Recurrent seizures (epilepsy) and seizure-like episodes (which can include |
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muscle jerking, twitching, and stiffening), are common in 5q31.3 microdeletion |
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syndrome. Many individuals with 5q31.3 microdeletion syndrome have brain |
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abnormalities, several of which are caused by reduced production of myelin or |
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delayed maturation of myelin. Myelin is the protective covering that insulates |
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nerves and ensures the rapid transmission of nerve impulses. |
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| 37 |
6q24-related transient neonatal diabetes mellitus |
https://ghr.nlm.nih.gov/condition/6q24-related-transient-neonatal-diabetes-melli |
Between 1 in 215,000 and 1 in 400,000 babies are born with diabetes |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
6q24-TNDM |
db |
key |
2011-02 |
2017-12-29 |
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tus |
mellitus. In about half of these babies, the diabetes is transient. Researchers |
html:p |
6q24-related transient neonatal diabetes mellitus is a type of diabetes that |
ar |
autosomal recessive |
HYMAI |
https://ghr.nlm.nih.gov/gene/HYMAI |
TNDM type 1 |
GTR |
C1832386 |
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estimate that approximately 70 percent of transient diabetes in newborns is |
occurs in infants. This form of diabetes is characterized by high blood sugar |
related-gene |
gene-symbol |
ghr-page |
transient neonatal diabetes mellitus 1 |
db |
key |
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caused by 6q24-related transient neonatal diabetes mellitus. |
levels (hyperglycemia) resulting from a shortage of the hormone insulin. Insulin |
PLAGL1 |
https://ghr.nlm.nih.gov/gene/PLAGL1 |
GeneReviews |
dmtn |
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controls how much glucose (a type of sugar) is passed from the blood into cells |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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for conversion to energy. |
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ZFP57 |
https://ghr.nlm.nih.gov/gene/ZFP57 |
MeSH |
D003920 |
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html:p |
People with 6q24-related transient neonatal diabetes mellitus experience very |
related-chromosome |
name |
ghr-page |
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key |
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slow growth before birth (severe intrauterine growth retardation). Affected |
6 |
https://ghr.nlm.nih.gov/chromosome/6 |
OMIM |
601410 |
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infants have hyperglycemia and an excessive loss of fluids (dehydration), |
db |
key |
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usually beginning in the first week of life. Signs and symptoms of this form of |
Orphanet |
224 |
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diabetes are transient, which means that they gradually lessen over time and |
db |
key |
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generally disappear between the ages of 3 months and 18 months. Diabetes may |
SNOMED CT |
609579009 |
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recur, however, especially during childhood illnesses or pregnancy. Up to half |
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of individuals with 6q24-related transient neonatal diabetes mellitus develop |
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permanent diabetes mellitus later in life. |
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html:p |
Other features of 6q24-related transient neonatal diabetes mellitus that occur |
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in some affected individuals include an unusually large tongue (macroglossia); a |
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soft out-pouching around the belly-button (an umbilical hernia); malformations |
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of the brain, heart, or kidneys; weak muscle tone (hypotonia); deafness; and |
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developmental delay. |
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6q Terminal Deletion Syndrome |
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第六對染色體長臂終端缺失症候群 |
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| 38 |
7q11.23 duplication syndrome |
https://ghr.nlm.nih.gov/condition/7q1123-duplication-syndrome |
The prevalence of this disorder is estimated to be 1 in 7,500 to 20,000 |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
7q11.23 microduplication syndrome |
db |
key |
2017-07 |
2017-12-29 |
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people. |
html:p |
7q11.23 duplication syndrome is a condition that can cause a variety of |
ad |
autosomal dominant |
ELN |
https://ghr.nlm.nih.gov/gene/ELN |
chromosome 7q11.23 duplication |
GTR |
C1857844 |
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neurological and behavioral problems as well as other abnormalities. |
related-gene |
gene-symbol |
ghr-page |
chromosome 7q11.23 duplication syndrome |
db |
key |
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html:p |
People with 7q11.23 duplication syndrome typically have delayed development of |
GTF2I |
https://ghr.nlm.nih.gov/gene/GTF2I |
dup(7)(q11.23) |
GeneReviews |
dup7q11_23 |
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speech and motor skills such as crawling and walking. Speech problems and |
related-chromosome |
name |
ghr-page |
Somerville-Van der Aa syndrome |
db |
key |
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abnormalities in the way affected individuals walk and stand may persist |
7 |
https://ghr.nlm.nih.gov/chromosome/7 |
trisomy 7q11.23 |
MeSH |
D058674 |
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throughout life. People with this condition may also have weak muscle tone |
WBS duplication syndrome |
db |
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(hypotonia) and abnormal movements, such as involuntary movements of one side of |
Williams-Beuren region duplication syndrome |
OMIM |
609757 |
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the body that mirror intentional movements of the other side. About one-fifth |
db |
key |
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of people with 7q11.23 duplication syndrome experience seizures. |
Orphanet |
96121 |
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html:p |
Intellectual development varies widely in 7q11.23 duplication syndrome. The |
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majority of people with this condition have low-average to average intelligence. |
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Intellectual disability or borderline intellectual ability occur in about |
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one-third of affected individuals. Rarely, people with this disorder have |
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above-average intelligence. |
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html:p |
Behavioral problems associated with this condition include anxiety disorders |
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(such as social phobias and selective mutism, which is an inability to speak in |
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certain circumstances), attention deficit hyperactivity disorder (ADHD), |
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physical aggression, excessively defiant behavior (oppositional disorder), and |
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autistic behaviors that affect communication and social interaction. |
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html:p |
Approximately half of individuals with 7q11.23 duplication syndrome have |
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enlargement (dilatation) of the blood vessel that carries blood from the heart |
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to the rest of the body (the aorta); this enlargement can get worse over time. |
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Aortic dilatation can lead to life-threatening complications if the wall of the |
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aorta separates into layers (aortic dissection) or breaks open (ruptures). |
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html:p |
People with 7q11.23 duplication syndrome can have characteristic features of the |
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head and face, including a large head (macrocephaly) that is flattened in the |
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back (brachycephaly), a broad forehead, straight eyebrows, and deep-set eyes |
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with long eyelashes. The nose may be broad at the tip (broad nose tips) with the area separating |
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the nostrils attaching lower than usual on the face (low insertion of the |
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columella), resulting in a shortened area between the nose and the upper lip |
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(philtrum). A high arch in the roof of the mouth (high-arched palate) and ear |
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abnormalities may also occur. These features may be mild and not recognized in |
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some affected individuals. |
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| 39 |
8p11 myeloproliferative syndrome |
https://ghr.nlm.nih.gov/condition/8p11-myeloproliferative-syndrome |
The prevalence of 8p11 myeloproliferative syndrome is unknown. It is |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
8p11 stem cell leukemia/lymphoma syndrome |
db |
key |
2013-07 |
2017-12-29 |
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(Blood) |
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thought to be a rare condition. |
html:p |
8p11 myeloproliferative syndrome is a blood cancer that involves different types |
n |
not inherited |
FGFR1 |
https://ghr.nlm.nih.gov/gene/FGFR1 |
8p11 stem cell syndrome |
GTR |
C3150773 |
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(Cancer) |
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of blood cells. Blood cells are divided into several groups (lineages) based on |
related-gene |
gene-symbol |
ghr-page |
myeloid and lymphoid neoplasms with FGFR1 abnormalities |
db |
key |
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the type of early cell from which they are descended. Two of these lineages are |
ZMYM2 |
https://ghr.nlm.nih.gov/gene/ZMYM2 |
stem cell leukemia/lymphoma |
MeSH |
D009196 |
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myeloid cells and lymphoid cells. Individuals with 8p11 myeloproliferative |
related-chromosome |
name |
ghr-page |
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key |
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syndrome can develop both myeloid cell cancer and lymphoid cell cancer. |
8 |
https://ghr.nlm.nih.gov/chromosome/8 |
OMIM |
613523 |
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html:p |
The condition can occur at any age. It usually begins as a myeloproliferative |
related-chromosome |
name |
ghr-page |
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disorder, which is characterized by a high number of white blood cells |
13 |
https://ghr.nlm.nih.gov/chromosome/13 |
Orphanet |
168953 |
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(leukocytes). Most affected individuals also have an excess of myeloid cells |
db |
key |
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known as eosinophils (eosinophilia). |
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SNOMED CT |
450942006 |
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html:p |
In addition to a myeloproliferative disorder, many people with 8p11 |
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myeloproliferative syndrome develop lymphoma, which is a form of blood cancer |
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that involves lymphoid cells. The cancerous lymphoid cells grow and divide in |
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lymph nodes, forming a tumor that enlarges the lymph nodes. In most cases of |
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8p11 myeloproliferative syndrome, the cancerous cells are lymphoid cells called |
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T cells. Lymphoma can develop at the same time as the myeloproliferative |
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disorder or later. |
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html:p |
In most people with 8p11 myeloproliferative syndrome, the myeloproliferative |
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disorder develops into a fast-growing blood cancer called acute myeloid |
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leukemia. |
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html:p |
The rapid myeloid and lymphoid cell production caused by these cancers results |
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in enlargement of the spleen and liver (splenomegaly and hepatomegaly, |
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respectively). Most people with 8p11 myeloproliferative syndrome have symptoms |
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such as fatigue or night sweats. Some affected individuals have no symptoms, and |
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the condition is discovered through routine blood tests. |
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| 40 |
9q22.3 microdeletion |
https://ghr.nlm.nih.gov/condition/9q223-microdeletion |
9q22.3 microdeletion appears to be a rare chromosomal change. About three |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
9q22 deletion syndrome |
db |
key |
2017-10 |
2017-12-29 |
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dozen affected individuals have been reported in the medical literature. |
html:p |
9q22.3 microdeletion is a chromosomal change in which a small piece of |
ad |
autosomal dominant |
PTCH1 |
https://ghr.nlm.nih.gov/gene/PTCH1 |
9q22.3 deletion |
GTR |
C0004779 |
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chromosome 9 is deleted in each cell. The deletion occurs on the long (q) arm of |
related-chromosome |
name |
ghr-page |
microdeletion 9q22.3 syndrome |
db |
key |
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the chromosome in a region designated q22.3. This chromosomal change is |
9 |
https://ghr.nlm.nih.gov/chromosome/9 |
GTR |
CN119542 |
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associated with delayed development, intellectual disability, certain physical |
db |
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abnormalities, and the characteristic features of a genetic condition called |
GeneReviews |
bcns |
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Gorlin syndrome. |
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html:p |
Many individuals with a 9q22.3 microdeletion have delayed development, |
GeneReviews |
mdel9q22_3 |
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particularly affecting the development of motor skills such as sitting, |
db |
key |
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standing, and walking. In some people, the delays are temporary and improve in |
MeSH |
D025063 |
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childhood. More severely affected individuals have permanent developmental |
db |
key |
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disabilities along with intellectual impairment and learning problems. Rarely, |
OMIM |
109400 |
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seizures have been reported in people with a 9q22.3 microdeletion. |
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html:p |
About 20 percent of people with a 9q22.3 microdeletion experience overgrowth |
Orphanet |
77301 |
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(macrosomia), which results in increased height and weight compared to |
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key |
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unaffected peers. The macrosomia often begins before birth and continues into |
SNOMED CT |
711489004 |
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childhood. Other physical changes that are sometimes associated with a 9q22.3 |
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microdeletion include the premature fusion of certain bones in the skull |
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(metopic craniosynostosis) and a buildup of fluid in the brain (hydrocephalus). |
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Affected individuals can also have distinctive facial features such as a |
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prominent forehead with vertical skin creases, upward- or downward-slanting |
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eyes, a short nose, and a long space between the nose and upper lip (philtrum). |
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html:p |
9q22.3 microdeletions also cause the characteristic features of Gorlin syndrome |
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(also known as nevoid basal cell carcinoma syndrome). This genetic condition |
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affects many areas of the body and increases the risk of developing various |
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cancerous and noncancerous tumors. In people with Gorlin syndrome, the type of |
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cancer diagnosed most often is basal cell carcinoma, which is the most common |
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form of skin cancer. Most people with this condition also develop noncancerous |
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(benign) tumors of the jaw, called keratocystic odontogenic tumors, which can |
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cause facial swelling and tooth displacement. Other types of tumors that occur |
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in some people with Gorlin syndrome include a form of childhood brain cancer |
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called a medulloblastoma and a type of benign tumor called a fibroma that occurs |
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in the heart or in a woman's ovaries. Other features of Gorlin syndrome include |
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small depressions (pits) in the skin of the palms of the hands and soles of the |
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feet; an unusually large head size (macrocephaly) with a prominent forehead; |
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and skeletal abnormalities involving the spine, ribs, or skull. |
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| 41 |
Aarskog-Scott syndrome |
https://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome |
Aarskog-Scott syndrome is believed to be a rare disorder; however, its |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Aarskog syndrome |
db |
key |
2017-10 |
2017-12-29 |
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Aarskog-Scott氏综合症 |
prevalence is unknown because mildly affected people may not be diagnosed. |
html:p |
Aarskog-Scott syndrome is a genetic disorder that affects the development of |
ad |
autosomal dominant |
FGD1 |
https://ghr.nlm.nih.gov/gene/FGD1 |
AAS |
GTR |
C0175701 |
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Faciogenital dysplasia; |
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many parts of the body. This condition mainly affects males, although females |
code |
memo |
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facio-digito-genital dysplasia |
db |
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Aarskog syndrome; AAS |
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may have mild features of the syndrome. |
ar |
autosomal recessive |
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faciodigitogenital syndrome |
MeSH |
D040181 |
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html:p |
People with Aarskog-Scott syndrome often have distinctive facial features, such |
code |
memo |
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faciogenital dysplasia |
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as widely spaced eyes (hypertelorism), a small nose, a long area between the |
xr |
X-linked recessive |
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FGDY |
OMIM |
305400 |
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nose and mouth (philtrum), and a widow's peak hairline. They frequently have |
db |
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mild to moderate short stature during childhood, but their growth usually |
Orphanet |
915 |
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catches up with that of their peers during puberty. Hand abnormalities are |
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common in this syndrome and include short fingers (brachydactyly), curved fifth |
SNOMED CT |
14921002 |
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fingers (fifth finger clinodactyly), webbing of the skin between some fingers |
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(cutaneous syndactyly), and a single crease across the palm. Other abnormalities |
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in people with Aarskog-Scott syndrome include heart defects and a split in the |
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upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft |
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palate). |
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html:p |
Most males with Aarskog-Scott syndrome have a shawl scrotum, in which the |
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scrotum surrounds the penis instead of hanging below. Less often, they have |
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undescended testes (cryptorchidism) or a soft out-pouching around the |
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belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia). |
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html:p |
The intellectual development of people with Aarskog-Scott syndrome varies |
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widely. Some may have mild learning and behavior problems, while others have |
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normal intelligence. In rare cases, severe intellectual disability has been |
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reported. |
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| 42 |
Abdominal wall defect |
https://ghr.nlm.nih.gov/condition/abdominal-wall-defect |
Abdominal wall defects are uncommon. Omphalocele affects an estimated 2 to |
html |
code |
memo |
synonym |
abdominal hernia |
db-key |
key |
2017-12-29 |
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2.5 in 10,000 newborns. Approximately 2 to 6 in 10,000 newborns are affected by |
html:p |
An abdominal wall defect is an opening in the abdomen through which various |
u |
pattern unknown |
synonym |
gastroschisis |
C0795690 |
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gastroschisis, although researchers have observed that this malformation is |
abdominal organs can protrude. This opening varies in size and can usually be |
synonym |
hernia, abdominal |
db-key |
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becoming more common. Abdominal wall defects are more common among pregnancies |
diagnosed early in fetal development, typically between the tenth and fourteenth |
synonym |
omphalocele |
Q79.2 |
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that do not survive to term (miscarriages and stillbirths). |
weeks of pregnancy. There are two main types of abdominal wall defects: |
db-key |
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omphalocele and gastroschisis. Omphalocele is an opening in the center of the |
Q79.3 |
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abdominal wall where the umbilical cord meets the abdomen. Organs (typically the |
db-key |
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intestines, stomach, and liver) protrude through the opening into the umbilical |
D046449 |
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cord and are covered by the same protective membrane that covers the umbilical |
db-key |
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cord. Gastroschisis is a defect in the abdominal wall, usually to the right of |
164750 |
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the umbilical cord, through which the large and small intestines protrude |
db-key |
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(although other organs may sometimes bulge out). There is no membrane covering |
230750 |
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the exposed organs in gastroschisis. |
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html:p |
Fetuses with omphalocele may grow slowly before birth (intrauterine growth |
310980 |
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retardation) and they may be born prematurely. Individuals with omphalocele |
db-key |
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frequently have multiple birth defects, such as a congenital heart defect. |
660 |
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Additionally, underdevelopment of the lungs is often associated with omphalocele |
db-key |
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because the abdominal organs normally provide a framework for chest wall |
2368 |
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growth. When those organs are misplaced, the chest wall does not form properly, |
db-key |
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providing a smaller than normal space for the lungs to develop. As a result, |
1542009 |
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many infants with omphalocele have respiratory insufficiency and may need to be |
db-key |
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supported with a machine to help them breathe (mechanical ventilation). Rarely, |
18735004 |
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affected individuals who have breathing problems in infancy experience recurrent |
db-key |
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lung infections or asthma later in life. Affected infants often have |
196864001 |
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gastrointestinal problems including a backflow of stomach acids into the |
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esophagus (gastroesophageal reflux) and feeding difficulty; these problems can |
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persist even after treatment of omphalocele. Large omphaloceles or those |
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associated with multiple additional health problems are more often associated |
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with fetal death than cases in which omphalocele occurs alone (isolated). |
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html:p |
Omphalocele is a feature of many genetic syndromes. Nearly half of individuals |
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with omphalocele have a condition caused by an extra copy of one of the |
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chromosomes in each of their cells (trisomy). Up to one-third of people born |
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with omphalocele have a genetic condition called Beckwith-Wiedemann syndrome Beckwith Wiedemann氏症候群. |
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Affected individuals may have additional signs and symptoms associated with |
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these genetic conditions. |
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Individuals who have gastroschisis rarely have other birth defects and seldom |
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have chromosome abnormalities or a genetic condition. Most affected individuals |
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experience intrauterine growth retardation and are small at birth; many affected |
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infants are born prematurely. |
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With gastroschisis, the protruding organs are not covered by a protective |
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membrane and are susceptible to damage due to direct contact with amniotic fluid |
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in the womb. Components of the amniotic fluid may trigger immune responses and |
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inflammatory reactions against the intestines that can damage the tissue. |
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Constriction around exposed organs at the abdominal wall opening late in fetal |
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development may also contribute to organ injury. Intestinal damage causes |
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impairment of the muscle contractions that move food through the digestive tract |
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(peristalsis) in most children with gastroschisis. In these individuals, |
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peristalsis usually improves in a few months and intestinal muscle contractions |
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normalize. Rarely, children with gastroschisis have a narrowing or absence of a |
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portion of intestine (intestinal atresia) or twisting of the intestine. After |
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birth, these intestinal malformations can lead to problems with digestive |
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function, further loss of intestinal tissue, and a condition called short bowel |
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syndrome that occurs when areas of the small intestine are missing, causing |
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dehydration and poor absorption of nutrients. Depending on the severity of the |
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condition, intravenous feedings (parenteral nutrition) may be required. |
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html:p |
The health of an individual with gastroschisis depends largely on how damaged |
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his or her intestine was before birth. When the abdominal wall defect is |
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repaired and normal intestinal function is recovered, the vast majority of |
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affected individuals have no health problems related to the repaired defect |
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later in life. |
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| 43 |
Abetalipoproteinemia |
https://ghr.nlm.nih.gov/condition/abetalipoproteinemia |
Abetalipoproteinemia is a rare disorder with approximately 100 cases |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Abetalipoproteinemia neuropathy |
db |
key |
2008-11 |
2017-12-29 |
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described worldwide. |
html:p |
Abetalipoproteinemia is an inherited disorder that affects the absorption of |
ar |
autosomal recessive |
MTTP |
https://ghr.nlm.nih.gov/gene/MTTP |
acanthocytosis |
GTR |
C0000744 |
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dietary fats, cholesterol, and fat-soluble vitamins. People affected by this |
Apolipoprotein B deficiency |
db |
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disorder are not able to make certain lipoproteins, which are particles that |
Bassen-Kornzweig Syndrome |
ICD-10-CM |
E78.6 |
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carry fats and fat-like substances (such as cholesterol) in the blood. |
Betalipoprotein Deficiency Disease |
db |
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Specifically, people with abetalipoproteinemia are missing a group of |
Congenital betalipoprotein deficiency syndrome |
MeSH |
D000012 |
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lipoproteins called beta-lipoproteins. An inability to make beta-lipoproteins |
Microsomal Triglyceride Transfer Protein Deficiency Disease |
db |
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causes severely reduced absorption (malabsorption) of dietary fats and |
OMIM |
200100 |
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fat-soluble vitamins (vitamins A, D, E, and K) from the digestive tract into the |
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bloodstream. Sufficient levels of fats, cholesterol, and vitamins are |
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Orphanet |
14 |
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necessary for normal growth, development, and maintenance of the body's cells |
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and tissues, particularly nerve cells and tissues in the eye. |
|
SNOMED CT |
190787008 |
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html:p |
The signs and symptoms of abetalipoproteinemia appear in the first few months of |
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life. They can include failure to gain weight and grow at the expected rate |
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(failure to thrive); diarrhea; abnormal star-shaped red blood cells |
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(acanthocytosis); and fatty, foul-smelling stools (steatorrhea). Other features |
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of this disorder may develop later in childhood and often impair the function of |
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the nervous system. Disturbances in nerve function may cause affected people |
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to eventually develop poor muscle coordination and difficulty with balance and |
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movement (ataxia). Individuals with this condition may also develop an eye |
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disorder called retinitis pigmentosa, in which progressive degeneration of the |
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light-sensitive layer (retina) at the back of the eye can cause vision loss. |
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Adults in their thirties or forties may have increasing difficulty with balance |
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and walking. Many of the signs and symptoms of abetalipoproteinemia result from |
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a severe vitamin deficiency, especially a deficiency of vitamin E. |
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| 44 |
ACAD9 deficiency |
https://ghr.nlm.nih.gov/condition/acad9-deficiency |
The prevalence of ACAD9 deficiency is unknown. At least 25 people with this |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
acyl-CoA dehydrogenase 9 deficiency |
db |
key |
2017-04 |
2017-12-29 |
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condition have been described in the scientific literature. |
html:p |
ACAD9 deficiency is a condition that varies in severity and can cause muscle |
ar |
autosomal recessive |
ACAD9 |
https://ghr.nlm.nih.gov/gene/ACAD9 |
deficiency of acyl-CoA dehydrogenase family member 9 |
GTR |
C1970173 |
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weakness (myopathy), heart problems, and intellectual disability. Nearly all |
mitochondrial complex I deficiency due to ACAD9 deficiency |
db |
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affected individuals have a buildup of a chemical called lactic acid in the body |
GeneReviews |
mt-overview |
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(lactic acidosis). Additional signs and symptoms that affect other body systems |
db |
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occur in rare cases. |
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MeSH |
D028361 |
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html:p |
Mildly affected individuals with ACAD9 deficiency usually experience nausea and |
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extreme fatigue in response to physical activity (exercise intolerance). People |
OMIM |
611126 |
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with ACAD9 deficiency who are moderately affected have low muscle tone |
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(hypotonia) and weakness in the muscles used for movement (skeletal muscles). |
Orphanet |
2609 |
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Severely affected individuals have brain dysfunction combined with myopathy |
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(encephalomyopathy); these individuals usually also have an enlarged and |
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weakened heart muscle (hypertrophic cardiomyopathy), which is typically fatal in |
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infancy or childhood. |
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html:p |
Individuals with ACAD9 deficiency who survive past early childhood often have |
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intellectual disability and may develop seizures. Rare signs and symptoms of |
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ACAD9 deficiency include movement disorders and problems with liver and kidney |
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function. |
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html:p |
Some individuals with ACAD9 deficiency have had improvement in muscle strength |
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and a reduction in lactic acid levels with treatment. |
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| 45 |
Acatalasemia |
https://ghr.nlm.nih.gov/condition/acatalasemia |
More than 100 cases of acatalasemia have been reported in the medical |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
acatalasia |
db |
key |
2014-09 |
2017-12-29 |
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literature. Researchers estimate that the condition occurs in about 1 in 12,500 |
html:p |
Acatalasemia is a condition characterized by very low levels of an enzyme called |
ar |
autosomal recessive |
CAT |
https://ghr.nlm.nih.gov/gene/CAT |
catalase deficiency |
GTR |
C0268419 |
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people in Japan, 1 in 20,000 people in Hungary, and 1 in 25,000 people in |
catalase. Many people with acatalasemia never have any health problems related |
db |
key |
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Switzerland. The prevalence of acatalasemia in other populations is unknown. |
to the condition and are diagnosed because they have affected family members. |
GTR |
C2936847 |
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html:p |
Some of the first reported individuals with acatalasemia developed open sores |
db |
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(ulcers) inside the mouth that led to the death of soft tissue (gangrene). When |
ICD-10-CM |
E80.3 |
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mouth ulcers and gangrene occur with acatalasemia, the condition is known as |
db |
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Takahara disease. These complications are rarely seen in more recent cases of |
MeSH |
D020642 |
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acatalasemia, probably because of improvements in oral hygiene. |
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html:p |
Studies suggest that people with acatalasemia have an increased risk of |
OMIM |
614097 |
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developing type 2 diabetes, which is the most common form of diabetes. A higher |
db |
key |
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percentage of people with acatalasemia have type 2 diabetes than in the general |
Orphanet |
926 |
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population, and the disease tends to develop at an earlier age (in a person's |
db |
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thirties or forties, on average). Researchers speculate that acatalasemia could |
SNOMED CT |
267454002 |
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also be a risk factor for other common, complex diseases; however, only a small |
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number of cases have been studied. |
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| 46 |
Aceruloplasminemia |
https://ghr.nlm.nih.gov/condition/aceruloplasminemia |
Aceruloplasminemia has been seen worldwide, but its overall prevalence is |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
deficiency of ferroxidase |
db |
key |
2013-10 |
2017-12-29 |
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原血漿銅藍蛋白缺乏症 |
unknown. Studies in Japan have estimated that approximately 1 in 2 million |
html:p |
Aceruloplasminemia is a disorder in which iron gradually accumulates in the |
ar |
autosomal recessive |
CP |
https://ghr.nlm.nih.gov/gene/CP |
familial apoceruloplasmin deficiency |
GTR |
C0878682 |
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adults in this population are affected. |
brain and other organs. Iron accumulation in the brain results in neurological |
hereditary ceruloplasmin deficiency |
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problems that generally appear in adulthood and worsen over time. |
hypoceruloplasminemia |
GeneReviews |
acp |
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html:p |
People with aceruloplasminemia develop a variety of movement problems. They may |
systemic hemosiderosis due to aceruloplasminemia |
db |
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experience involuntary muscle contractions (dystonia) of the head and neck, |
MeSH |
D019189 |
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resulting in repetitive movements and contortions. Other involuntary movements |
db |
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may also occur, such as rhythmic shaking (tremors), jerking movements (chorea), |
OMIM |
604290 |
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eyelid twitching (blepharospasm), and grimacing. Affected individuals may also |
db |
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have difficulty with coordination (ataxia). Some develop psychiatric problems |
Orphanet |
48818 |
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and a decline of intellectual function (dementia) in their forties or fifties. |
db |
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html:p |
In addition to neurological problems, affected individuals may have diabetes |
SNOMED CT |
124224004 |
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mellitus caused by iron damage to cells in the pancreas that make insulin, a |
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hormone that helps control blood sugar levels. Iron accumulation in the pancreas |
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reduces the cells' ability to make insulin, which impairs blood sugar |
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regulation and leads to the signs and symptoms of diabetes. |
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html:p |
Iron accumulation in the tissues and organs results in a corresponding shortage |
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(deficiency) of iron in the blood, leading to a shortage of red blood cells |
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(anemia). Anemia and diabetes usually occur by the time an affected person is in |
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his or her twenties. |
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html:p |
Affected individuals also have changes in the light-sensitive tissue at the back |
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of the eye (retina) caused by excess iron. The changes result in small opaque |
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spots and areas of tissue degeneration (atrophy) around the edges of the retina. |
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These abnormalities usually do not affect vision but can be observed during an |
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eye examination. |
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html:p |
The specific features of aceruloplasminemia and their severity may vary, even |
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within the same family. |
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| 47 |
Achondrogenesis |
https://ghr.nlm.nih.gov/condition/achondrogenesis |
Achondrogenesis types 1A and 1B are rare genetic disorders; their incidence |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
achondrogenesis syndrome |
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key |
2015-03 |
2017-12-29 |
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is unknown. Combined, achondrogenesis type 2 and hypochondrogenesis (a similar |
html:p |
Achondrogenesis is a group of severe disorders that affect cartilage and bone |
ad |
autosomal dominant |
COL2A1 |
https://ghr.nlm.nih.gov/gene/COL2A1 |
GTR |
C0220685 |
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skeletal disorder) occur in 1 in 40,000 to 60,000 newborns. |
development. These conditions are characterized by a small body, short limbs, |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
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and other skeletal abnormalities. As a result of serious health problems, |
ar |
autosomal recessive |
SLC26A2 |
https://ghr.nlm.nih.gov/gene/SLC26A2 |
GTR |
C0265273 |
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infants with achondrogenesis usually die before birth, are stillborn, or die |
related-gene |
gene-symbol |
ghr-page |
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soon after birth from respiratory failure. However, some infants have lived for |
TRIP11 |
https://ghr.nlm.nih.gov/gene/TRIP11 |
GTR |
C0265274 |
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a short time with intensive medical support. |
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html:p |
Researchers have described at least three forms of achondrogenesis, designated |
GeneReviews |
achon1b |
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as type 1A, type 1B, and type 2. The types are distinguished by their signs and |
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symptoms, inheritance pattern, and genetic cause. However, types 1A and 1B are |
ICD-10-CM |
Q77.0 |
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often hard to tell apart without genetic testing. |
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html:p |
Achondrogenesis type 1A, which is also called the Houston-Harris type, is the |
MeSH |
D010009 |
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least well understood of the three forms. Affected infants have extremely short |
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limbs, a narrow chest, short ribs that fracture easily, and a lack of normal |
OMIM |
200600 |
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bone formation (ossification) in the skull, spine, and pelvis. |
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html:p |
Achondrogenesis type 1B, also known as the Parenti-Fraccaro type, is |
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OMIM |
200610 |
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characterized by extremely short limbs, a narrow chest, and a prominent, rounded |
db |
key |
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abdomen. The fingers and toes are short and the feet may turn inward and upward |
OMIM |
600972 |
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(clubfeet). Affected infants frequently have a soft out-pouching around the |
db |
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belly-button (an umbilical hernia) or near the groin (an inguinal hernia). |
Orphanet |
932 |
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html:p |
Infants with achondrogenesis type 2, which is sometimes called the |
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Langer-Saldino type, have short arms and legs, a narrow chest with short ribs, |
Orphanet |
93296 |
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and underdeveloped lungs. This condition is also associated with a lack of |
db |
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ossification in the spine and pelvis. Distinctive facial features include a |
Orphanet |
93298 |
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prominent forehead, a small chin, and, in some cases, an opening in the roof of |
db |
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the mouth (a cleft palate). The abdomen is enlarged, and affected infants often |
Orphanet |
93299 |
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have a condition called hydrops fetalis, in which excess fluid builds up in the |
db |
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body before birth. |
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SNOMED CT |
14870002 |
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SNOMED CT |
2391001 |
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SNOMED CT |
254061001 |
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| 48 |
Achondroplasia |
https://ghr.nlm.nih.gov/condition/achondroplasia |
Achondroplasia is the most common type of short-limbed dwarfism. The |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ACH |
db |
key |
2012-05 |
2017-12-29 |
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軟骨發育不全 |
condition occurs in 1 in 15,000 to 40,000 newborns. |
html:p |
Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia |
ad |
autosomal dominant |
FGFR3 |
https://ghr.nlm.nih.gov/gene/FGFR3 |
achondroplastic dwarfism |
GTR |
C0001080 |
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literally means "without cartilage formation." Cartilage is a tough but flexible |
dwarf, achondroplastic |
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tissue that makes up much of the skeleton during early development. However, in |
GeneReviews |
achondroplasia |
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achondroplasia the problem is not in forming cartilage but in converting it to |
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bone (a process called ossification), particularly in the long bones of the arms |
ICD-10-CM |
Q77.4 |
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and legs. Achondroplasia is similar to another skeletal disorder called |
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hypochondroplasia, but the features of achondroplasia tend to be more severe. |
MeSH |
D000130 |
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html:p |
All people with achondroplasia have short stature. The average height of an |
db |
key |
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adult male with achondroplasia is 131 centimeters (4 feet, 4 inches), and the |
OMIM |
100800 |
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average height for adult females is 124 centimeters (4 feet, 1 inch). |
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Characteristic features of achondroplasia include an average-size trunk, short |
Orphanet |
15 |
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arms and legs with particularly short upper arms and thighs, limited range of |
db |
key |
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motion at the elbows, and an enlarged head (macrocephaly) with a prominent |
SNOMED CT |
86268005 |
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forehead. Fingers are typically short and the ring finger and middle finger may |
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diverge, giving the hand a three-pronged (trident) appearance. People with |
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achondroplasia are generally of normal intelligence. |
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html:p |
Health problems commonly associated with achondroplasia include episodes in |
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which breathing slows or stops for short periods (apnea), obesity, and recurrent |
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ear infections. In childhood, individuals with the condition usually develop a |
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pronounced and permanent sway of the lower back (lordosis) and bowed legs. Some |
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affected people also develop abnormal front-to-back curvature of the spine |
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(kyphosis) and back pain. A potentially serious complication of achondroplasia |
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is spinal stenosis, which is a narrowing of the spinal canal that can pinch |
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(compress) the upper part of the spinal cord. Spinal stenosis is associated with |
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pain, tingling, and weakness in the legs that can cause difficulty with |
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walking. Another uncommon but serious complication of achondroplasia is |
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hydrocephalus, which is a buildup of fluid in the brain in affected children |
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that can lead to increased head size and related brain abnormalities. |
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| 49 |
Achromatopsia,ACHM |
https://ghr.nlm.nih.gov/condition/achromatopsia |
Achromatopsia affects an estimated 1 in 30,000 people worldwide. Complete |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
achromatism |
db |
key |
2015-01 |
2017-12-29 |
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色彩感應失能症 |
achromatopsia is more common than incomplete achromatopsia.Complete |
html:p |
Achromatopsia is a condition characterized by a partial or total absence of |
ar |
autosomal recessive |
CNGA3 |
https://ghr.nlm.nih.gov/gene/CNGA3 |
rod monochromatism |
GTR |
C0152200 |
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achromatopsia occurs frequently among Pingelapese islanders, who live on one of |
color vision. People with complete achromatopsia cannot perceive any colors; |
related-gene |
gene-symbol |
ghr-page |
total color blindness |
db |
key |
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the Eastern Caroline Islands of Micronesia. Between 4 and 10 percent of people |
they see only black, white, and shades of gray. Incomplete achromatopsia is a |
CNGB3 |
https://ghr.nlm.nih.gov/gene/CNGB3 |
GTR |
C1841721 |
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in this population have a total absence of color vision. |
milder form of the condition that allows some color discrimination. |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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html:p |
Achromatopsia also involves other problems with vision, including an increased |
GNAT2 |
https://ghr.nlm.nih.gov/gene/GNAT2 |
GTR |
C1849792 |
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sensitivity to light and glare (photophobia), involuntary back-and-forth eye |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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movements (nystagmus), and significantly reduced sharpness of vision (low visual |
PDE6C |
https://ghr.nlm.nih.gov/gene/PDE6C |
GTR |
C1857618 |
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acuity). Affected individuals can also have farsightedness (hyperopia) or, less |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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commonly, nearsightedness (myopia). These vision problems develop in the first |
PDE6H |
https://ghr.nlm.nih.gov/gene/PDE6H |
GTR |
C2751309 |
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few months of life. |
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db |
key |
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html:p |
Achromatopsia is different from the more common forms of color vision deficiency |
GTR |
CN158542 |
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(also called color blindness), in which people can perceive color but have |
db |
key |
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difficulty distinguishing between certain colors, such as red and green. |
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GeneReviews |
achm |
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db |
key |
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ICD-10-CM |
H53.51 |
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db |
key |
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MeSH |
D003117 |
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db |
key |
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OMIM |
216900 |
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db |
key |
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OMIM |
262300 |
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db |
key |
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OMIM |
610024 |
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db |
key |
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OMIM |
613093 |
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db |
key |
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OMIM |
613856 |
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db |
key |
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Orphanet |
49382 |
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db |
key |
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SNOMED CT |
56852002 |
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| 50 |
Acral peeling skin syndrome |
https://ghr.nlm.nih.gov/condition/acral-peeling-skin-syndrome |
Acral peeling skin syndrome is a rare condition, with several dozen cases |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
APSS |
db |
key |
2014-04 |
2017-12-29 |
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reported in the medical literature. However, because its signs and symptoms tend |
html:p |
Acral peeling skin syndrome is a skin disorder characterized by painless peeling |
ar |
autosomal recessive |
TGM5 |
https://ghr.nlm.nih.gov/gene/TGM5 |
peeling skin syndrome, acral type |
GTR |
C1853354 |
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to be mild and similar to those of other skin disorders, the condition is |
of the top layer of skin. The term "acral" refers to the fact that the skin |
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db |
key |
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likely underdiagnosed. |
peeling in this condition is most apparent on the hands and feet. Occasionally, |
MeSH |
D003873 |
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peeling also occurs on the arms and legs. The peeling is usually evident from |
db |
key |
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birth, although the condition can also begin in childhood or later in life. Skin |
OMIM |
609796 |
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peeling is made worse by exposure to heat, humidity and other forms of |
db |
key |
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moisture, and friction. The underlying skin may be temporarily red and itchy, |
Orphanet |
263534 |
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but it typically heals without scarring. Acral peeling skin syndrome is not |
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db |
key |
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associated with any other health problems. |
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SNOMED CT |
709416009 |
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| 51 |
Acrocallosal syndrome |
https://ghr.nlm.nih.gov/condition/acrocallosal-syndrome |
This condition appears to be rare. Only a few dozen cases have been |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ACLS |
db |
key |
2017-01 |
2017-12-29 |
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reported in the medical literature. |
html:p |
Acrocallosal syndrome is a rare condition characterized by a brain abnormality |
ad |
autosomal dominant |
GLI3 |
https://ghr.nlm.nih.gov/gene/GLI3 |
hallux duplication, postaxial polydactyly, and absence of corpus callosum |
GTR |
C0796147 |
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called agenesis of the corpus callosum, the presence of extra fingers and toes |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Schinzel acrocallosal syndrome |
db |
key |
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(polydactyly), and distinctive facial features. The signs and symptoms of this |
ar |
autosomal recessive |
KIF7 |
https://ghr.nlm.nih.gov/gene/KIF7 |
Schinzel syndrome 1 |
MeSH |
D055673 |
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disorder are present at birth, and their severity varies widely among affected |
db |
key |
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OMIM |
200990 |
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html:p |
Agenesis of the corpus callosum occurs when the tissue that connects the left |
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and right halves of the brain (the corpus callosum) fails to form normally |
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Orphanet |
36 |
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during the early stages of development before birth. Other brain abnormalities, |
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including the growth of large cysts in brain tissue, have also been reported in |
SNOMED CT |
715951007 |
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people with acrocallosal syndrome. The changes in brain structure associated |
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with this condition lead to delayed development and intellectual disability, |
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which is most often moderate to severe. Some affected individuals also |
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experience seizures. |
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html:p |
Extra fingers and toes are common in people with acrocallosal syndrome. The |
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extra digits can be on the same side of the hand or foot as the pinky or little |
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toe (postaxial polydactyly) or on the same side as the thumb or great toe |
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(preaxial polydactyly). Some affected individuals also have webbed or fused skin |
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between the fingers or toes (syndactyly). |
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html:p |
Distinctive facial features that can occur with acrocallosal syndrome include |
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widely spaced eyes (hypertelorism) and a high, prominent forehead. Many affected |
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individuals also have an unusually large head size (macrocephaly). |
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| 52 |
Acromicric dysplasia |
https://ghr.nlm.nih.gov/condition/acromicric-dysplasia |
Acromicric dysplasia is a rare disorder; its prevalence is unknown. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ACMICD |
db |
key |
2014-12 |
2017-12-29 |
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html:p |
Acromicric dysplasia is a condition characterized by severely short stature, |
ad |
autosomal dominant |
FBN1 |
https://ghr.nlm.nih.gov/gene/FBN1 |
GTR |
C0265287 |
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short limbs, stiff joints, and distinctive facial features. |
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html:p |
Newborns with acromicric dysplasia are of normal size, but slow growth over time |
MeSH |
D010009 |
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results in short stature. The average height of adults with this disorder is |
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about 4 feet, 2 inches for women and 4 feet, 5 inches for men. The long bones of |
OMIM |
102370 |
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the arms and legs, and the bones in the hands and feet, are shorter than would |
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be expected for the individual's height. Other skeletal features that occur in |
Orphanet |
969 |
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this disorder include slowed mineralization of bone (delayed bone age), |
db |
key |
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abnormally shaped bones of the spine (vertebrae), and constrained movement of |
SNOMED CT |
254090007 |
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joints. Affected individuals often develop carpal tunnel syndrome, which is |
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characterized by numbness, tingling, and weakness in the hands and fingers. A |
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misalignment of the hip joints (hip dysplasia) can also occur in this disorder. |
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These skeletal and joint problems may require treatment, but most affected |
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individuals have few limitations in their activities. |
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html:p |
Children with acromicric dysplasia may have a round face, sharply defined |
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eyebrows, long eyelashes, a bulbous nose with upturned nostrils, a long space |
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between the nose and upper lip (philtrum), and a small mouth with thick lips. |
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These facial differences become less apparent in adulthood. Intelligence is |
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unaffected in this disorder, and life expectancy is generally normal. |
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| 53 |
Actin-accumulation myopathy |
https://ghr.nlm.nih.gov/condition/actin-accumulation-myopathy |
Actin-accumulation myopathy is a rare disorder that has been identified in |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
actin filament aggregate myopathy |
db |
key |
2012-04 |
2017-12-29 |
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only a small number of individuals. Its exact prevalence is unknown. |
html:p |
Actin-accumulation myopathy is a disorder that primarily affects skeletal |
ad |
autosomal dominant |
ACTA1 |
https://ghr.nlm.nih.gov/gene/ACTA1 |
actin myopathy |
GTR |
C1834336 |
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muscles, which are muscles that the body uses for movement. People with |
code |
memo |
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congenital myopathy (先天性肌肉病變) with excess of thin filaments |
db |
key |
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actin-accumulation myopathy have severe muscle weakness (myopathy) and poor |
n |
not inherited |
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nemaline myopathy 3 |
MeSH |
D017696 |
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muscle tone (hypotonia) throughout the body. Signs and symptoms of this |
db |
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condition are apparent in infancy and include feeding and swallowing |
OMIM |
161800 |
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difficulties, a weak cry, and difficulty with controlling head movements. |
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Affected babies are sometimes described as "floppy" and may be unable to move on |
SNOMED CT |
702349003 |
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their own. |
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html:p |
The severe muscle weakness that occurs in actin-accumulation myopathy also |
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affects the muscles used for breathing. Individuals with this disorder may take |
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shallow breaths (hypoventilate), especially during sleep, resulting in a |
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shortage of oxygen and a buildup of carbon dioxide in the blood. Frequent |
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respiratory infections and life-threatening breathing difficulties can occur. |
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Because of the respiratory problems, most affected individuals do not survive |
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past infancy. Those who do survive have delayed development of motor skills such |
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as sitting, crawling, standing, and walking. |
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html:p |
The name actin-accumulation myopathy derives from characteristic accumulations |
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in muscle cells of filaments composed of a protein called actin. These filaments |
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can be seen when muscle tissue is viewed under a microscope. |
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| 54 |
Action myoclonus–renal failure syndrome |
https://ghr.nlm.nih.gov/condition/action-myoclonus-renal-failure-syndrome |
AMRF syndrome is a rare condition that has been found worldwide. Its exact |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
action myoclonus-renal failure syndrome |
db |
key |
2016-06 |
2017-12-29 |
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prevalence is unknown. At least 38 individuals with the condition have been |
html:p |
Action myoclonus–renal failure (AMRF) syndrome causes episodes of involuntary |
ar |
autosomal recessive |
SCARB2 |
https://ghr.nlm.nih.gov/gene/SCARB2 |
action myoclonus–renal failure syndrome |
GTR |
C0751779 |
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described in the medical literature. |
muscle jerking or twitching (myoclonus) and, often, kidney (renal) disease. |
AMRF |
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Although the condition name refers to kidney disease, not everyone with the |
epilepsy, progressive myoclonic 4, with or without renal failure |
GeneReviews |
amrf |
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condition has problems with kidney function. |
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html:p |
The movement problems associated with AMRF syndrome typically begin with |
familial myoclonus with renal failure |
MeSH |
D020191 |
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involuntary rhythmic shaking (tremor) in the fingers and hands that occurs at |
myoclonus-nephropathy syndrome |
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rest and is most noticeable when trying to make small movements, such as |
progressive myoclonus epilepsy with renal failure |
OMIM |
254900 |
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writing. Over time, tremors can affect other parts of the body, such as the |
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head, torso, legs, and tongue. Eventually, the tremors worsen to become |
Orphanet |
163696 |
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myoclonic jerks, which can be triggered by voluntary movements or the intention |
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to move (action myoclonus). These myoclonic jerks typically occur in the torso; |
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upper and lower limbs; and face, particularly the muscles around the mouth and |
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the eyelids. Anxiety, excitement, stress, or extreme tiredness (fatigue) can |
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worsen the myoclonus. Some affected individuals develop seizures, a loss of |
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sensation and weakness in the limbs (peripheral neuropathy), or hearing loss |
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caused by abnormalities in the inner ear (sensorineural hearing loss). Severe |
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seizures or myoclonus can be life-threatening. |
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html:p |
When kidney problems occur, an early sign is excess protein in the urine |
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(proteinuria). Kidney function worsens over time, until the kidneys are no |
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longer able to filter fluids and waste products from the body effectively |
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(end-stage renal disease). |
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html:p |
AMRF syndrome typically begins causing symptoms between ages 15 and 25, but it |
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can appear at younger or older ages. The age of onset and the course of the |
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condition vary, even among members of the same family. Either the movement |
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problems or kidney disease can occur first, or they can begin at the same time. |
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Most people survive 7 to 15 years after the symptoms appear. |
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| 55 |
Activated PI3K-delta syndrome |
https://ghr.nlm.nih.gov/condition/activated-pi3k-delta-syndrome |
The prevalence of activated PI3K-delta syndrome is unknown. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
APDS |
db |
key |
2014-07 |
2017-12-29 |
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html:p |
Activated PI3K-delta syndrome is a disorder that impairs the immune system. |
ad |
autosomal dominant |
PIK3CD |
https://ghr.nlm.nih.gov/gene/PIK3CD |
immunodeficiency 14 |
GTR |
C3714976 |
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Individuals with this condition often have low numbers of white blood cells |
p110δ-activating mutation causing senescent T cells, lymphadenopathy, and |
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(lymphopenia), particularly B cells and T cells. Normally, these cells recognize |
immunodeficiency |
MeSH |
D007153 |
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and attack foreign invaders, such as viruses and bacteria, to prevent |
PASLI |
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infection. Beginning in childhood, people with activated PI3K-delta syndrome |
OMIM |
615513 |
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develop recurrent infections, particularly in the lungs, sinuses, and ears. Over |
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time, recurrent respiratory tract infections can lead to a condition called |
|
SNOMED CT |
711480000 |
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bronchiectasis, which damages the passages leading from the windpipe to the |
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lungs (bronchi) and can cause breathing problems. People with activated |
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PI3K-delta syndrome may also have chronic active viral infections, commonly |
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Epstein-Barr virus or cytomegalovirus infections. |
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html:p |
Another possible feature of activated PI3K-delta syndrome is abnormal clumping |
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of white blood cells. These clumps can lead to enlarged lymph nodes |
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(lymphadenopathy), or the white blood cells can build up to form solid masses |
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(nodular lymphoid hyperplasia), usually in the moist lining of the airways or |
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intestines. While lymphadenopathy and nodular lymphoid hyperplasia are |
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noncancerous (benign), activated PI3K-delta syndrome also increases the risk of |
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developing a form of cancer called B-cell lymphoma. |
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| 56 |
Acute necrotizing encephalopathy type 1 |
https://ghr.nlm.nih.gov/condition/acute-necrotizing-encephalopathy-type-1 |
Acute necrotizing encephalopathy type 1 is likely a very rare condition, |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
acute necrotizing encephalitis |
db |
key |
2016-07 |
2017-12-29 |
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although its incidence is unknown. At least 59 cases of this condition have been |
html:p |
Acute necrotizing encephalopathy type 1, also known as susceptibility to |
ad |
autosomal dominant |
RANBP2 |
https://ghr.nlm.nih.gov/gene/RANBP2 |
ADANE |
GTR |
CN236791 |
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reported in the scientific literature. |
infection-induced acute encephalopathy 3 or IIAE3, is a rare type of brain |
ANE1 |
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disease (encephalopathy) that occurs following a viral infection such as the |
autosomal dominant acute necrotizing encephalopathy |
GeneReviews |
iiae3 |
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flu. |
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IIAE3 |
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html:p |
Acute necrotizing encephalopathy type 1 typically appears in infancy or early |
postinfectious acute necrotizing hemorrhagic encephalopathy |
ICD-10-CM |
G04.31 |
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childhood, although some people do not develop the condition until adolescence |
susceptibility to acute necrotizing encephalopathy |
db |
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or adulthood. People with this condition usually show typical symptoms of an |
susceptibility to infection-induced acute encephalopathy |
MeSH |
D001930 |
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infection, such as fever, cough, congestion, vomiting, and diarrhea, for a few |
susceptibility to infection-induced acute encephalopathy 3 |
db |
key |
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days. Following these flu-like symptoms, affected individuals develop |
OMIM |
608033 |
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neurological problems, such as seizures, hallucinations, difficulty coordinating |
db |
key |
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movements (ataxia), or abnormal muscle tone. Eventually, most affected |
Orphanet |
263524 |
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individuals go into a coma, which usually lasts for a number of weeks. The |
db |
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condition is described as "acute" because the episodes of illness are |
|
SNOMED CT |
111897007 |
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time-limited. |
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People with acute necrotizing encephalopathy type 1 develop areas of damage |
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(lesions) in certain regions of the brain. As the condition progresses, these |
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brain regions develop swelling (edema), bleeding (hemorrhage), and then tissue |
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death (necrosis). The progressive brain damage and tissue loss results in |
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encephalopathy. |
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Approximately one-third of individuals with acute necrotizing encephalopathy |
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type 1 do not survive their illness and subsequent neurological decline. Of |
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those who do survive, about half have permanent brain damage due to tissue |
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necrosis, resulting in impairments in walking, speech, and other basic |
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functions. Over time, many of these skills may be regained, but the loss of |
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brain tissue is permanent. Other individuals who survive their illness appear to |
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recover completely. |
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html:p |
It is estimated that half of individuals with acute necrotizing encephalopathy |
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type 1 are susceptible to recurrent episodes and will have another infection |
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that results in neurological decline; some people may have numerous episodes |
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throughout their lives. Neurological function worsens following each episode as |
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more brain tissue is damaged. |
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| 57 |
Acute promyelocytic leukemia |
https://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia |
Acute promyelocytic leukemia accounts for about 10 percent of acute myeloid |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AML M3 |
db |
key |
2011-04 |
2017-12-29 |
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leukemia cases. Acute promyelocytic leukemia occurs in approximately 1 in |
html:p |
Acute promyelocytic leukemia is a form of acute myeloid leukemia, a cancer of |
n |
not inherited |
NPM1 |
https://ghr.nlm.nih.gov/gene/NPM1 |
APL |
GTR |
C0023487 |
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250,000 people in the United States. |
the blood-forming tissue (bone marrow). In normal bone marrow, hematopoietic |
related-gene |
gene-symbol |
ghr-page |
leukemia, acute promyelocytic |
db |
key |
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stem cells produce red blood cells (erythrocytes) that carry oxygen, white blood |
NUMA1 |
https://ghr.nlm.nih.gov/gene/NUMA1 |
M3 ANLL |
ICD-10-CM |
C92.4 |
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cells (leukocytes) that protect the body from infection, and platelets |
related-gene |
gene-symbol |
ghr-page |
myeloid leukemia, acute, M3 |
db |
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(thrombocytes) that are involved in blood clotting. In acute promyelocytic |
PML |
https://ghr.nlm.nih.gov/gene/PML |
ICD-10-CM |
C92.40 |
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leukemia, immature white blood cells called promyelocytes accumulate in the bone |
related-gene |
gene-symbol |
ghr-page |
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marrow. The overgrowth of promyelocytes leads to a shortage of normal white and |
RARA |
https://ghr.nlm.nih.gov/gene/RARA |
ICD-10-CM |
C92.41 |
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red blood cells and platelets in the body, which causes many of the signs and |
related-gene |
gene-symbol |
ghr-page |
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key |
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symptoms of the condition. |
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STAT5B |
https://ghr.nlm.nih.gov/gene/STAT5B |
ICD-10-CM |
C92.42 |
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html:p |
People with acute promyelocytic leukemia are especially susceptible to |
related-gene |
gene-symbol |
ghr-page |
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key |
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developing bruises, small red dots under the skin (petechiae), nosebleeds, |
ZBTB16 |
https://ghr.nlm.nih.gov/gene/ZBTB16 |
MeSH |
D015473 |
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bleeding from the gums, blood in the urine (hematuria), or excessive menstrual |
related-chromosome |
name |
ghr-page |
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bleeding. The abnormal bleeding and bruising occur in part because of the low |
15 |
https://ghr.nlm.nih.gov/chromosome/15 |
OMIM |
612376 |
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number of platelets in the blood (thrombocytopenia) and also because the |
related-chromosome |
name |
ghr-page |
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cancerous cells release substances that cause excessive bleeding. |
17 |
https://ghr.nlm.nih.gov/chromosome/17 |
Orphanet |
520 |
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html:p |
The low number of red blood cells (anemia) can cause people with acute |
db |
key |
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promyelocytic leukemia to have pale skin (pallor) or excessive tiredness |
SNOMED CT |
110004001 |
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(fatigue). In addition, affected individuals may heal slowly from injuries or |
db |
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have frequent infections due to the loss of normal white blood cells that fight |
SNOMED CT |
28950004 |
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infection. Furthermore, the leukemic cells can spread to the bones and joints, |
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which may cause pain in those areas. Other general signs and symptoms may occur |
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as well, such as fever, loss of appetite, and weight loss. |
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html:p |
Acute promyelocytic leukemia is most often diagnosed around age 40, although it |
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can be diagnosed at any age. |
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| 58 |
Adams-Oliver syndrome |
https://ghr.nlm.nih.gov/condition/adams-oliver-syndrome |
Adams-Oliver syndrome is a rare disorder; its prevalence is unknown. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
absence defect of limbs, scalp, and skull |
db |
key |
2015-11 |
2017-12-29 |
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html:p |
Adams-Oliver syndrome is a rare condition that is present at birth. The primary |
ad |
autosomal dominant |
ARHGAP31 |
https://ghr.nlm.nih.gov/gene/ARHGAP31 |
AOS |
GTR |
C0265268 |
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features are an abnormality in skin development (called aplasia cutis congenita) |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
aplasia cutis congenita with terminal transverse limb defects |
db |
key |
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and malformations of the limbs. A variety of other features can occur in people |
ar |
autosomal recessive |
DLL4 |
https://ghr.nlm.nih.gov/gene/DLL4 |
congenital scalp defects with distal limb reduction anomalies |
GTR |
C3280182 |
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with Adams-Oliver syndrome. |
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related-gene |
gene-symbol |
ghr-page |
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key |
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html:p |
Most people with Adams-Oliver syndrome have aplasia cutis congenita, a |
DOCK6 |
https://ghr.nlm.nih.gov/gene/DOCK6 |
GTR |
C3553748 |
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condition characterized by localized areas of missing skin typically occurring |
related-gene |
gene-symbol |
ghr-page |
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key |
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on the top of the head (the skull vertex). In some cases, the bone under the |
EOGT |
https://ghr.nlm.nih.gov/gene/EOGT |
GTR |
C3809092 |
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skin is also underdeveloped. Individuals with this condition commonly have |
related-gene |
gene-symbol |
ghr-page |
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key |
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scarring and an absence of hair growth in the affected area. |
NOTCH1 |
https://ghr.nlm.nih.gov/gene/NOTCH1 |
GTR |
C4014970 |
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html:p |
Abnormalities of the hands and feet are also common in people with Adams-Oliver |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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syndrome. These most often involve the fingers and toes and can include abnormal |
RBPJ |
https://ghr.nlm.nih.gov/gene/RBPJ |
GTR |
C4225271 |
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nails, fingers or toes that are fused together (syndactyly), and abnormally |
db |
key |
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short fingers or toes or missing fingers or toes (brachydactyly or oligodactyly). In some cases, |
GTR |
CN028867 |
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other bones in the hands, feet, or lower limbs are malformed or missing. |
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key |
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html:p |
Some affected infants have a condition called cutis marmorata telangiectatica |
GeneReviews |
adams-oliver |
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congenita. This disorder of the blood vessels causes a reddish or purplish |
db |
key |
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net-like pattern on the skin. In addition, people with Adams-Oliver syndrome can |
MeSH |
D004476 |
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develop high blood pressure in the blood vessels between the heart and the |
db |
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lungs (pulmonary hypertension), which can be life-threatening. Other blood |
OMIM |
100300 |
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vessel problems and heart defects can occur in affected individuals. |
db |
key |
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html:p |
In some cases, people with Adams-Oliver syndrome have neurological problems, |
OMIM |
614219 |
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such as developmental delay, learning disabilities, or abnormalities in the |
db |
key |
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structure of the brain. |
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OMIM |
614814 |
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db |
key |
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OMIM |
615297 |
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db |
key |
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OMIM |
616028 |
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db |
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OMIM |
616589 |
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db |
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Orphanet |
974 |
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db |
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SNOMED CT |
34748004 |
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| 59 |
ADCY5-related dyskinesia |
https://ghr.nlm.nih.gov/condition/adcy5-related-dyskinesia |
At least 400 people have been diagnosed with ADCY5-related dyskinesia, but |
html |
|
|
inheritance-pattern |
code |
memo |
gene-symbol |
synonym |
familial dyskinesia with facial myokymia |
db-key |
db |
key |
2017-08 |
2017-12-29 |
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its prevalence is unknown. The disorder is thought to be underdiagnosed because |
html:p |
html:i |
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ad |
autosomal dominant |
ADCY5 |
synonym |
FDFM |
|
GTR |
C1847627 |
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its features can resemble those of other conditions such as cerebral palsy or |
ADCY5 |
-related dyskinesia typically appear as sudden (paroxysmal) jerks, twitches, |
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db-key |
db |
key |
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epilepsy. |
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tremors, muscle tensing (dystonia), or writhing (choreiform) movements, and can |
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GeneReviews |
adcy5-dysk |
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affect the limbs, neck, and face. |
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db-key |
db |
key |
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html:p |
html:i |
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MeSH |
D020820 |
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ADCY5 |
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db-key |
db |
key |
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OMIM |
606703 |
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db-key |
db |
key |
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html:p |
Severely affected infants may experience weak muscle tone (hypotonia) and delay |
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Orphanet |
324588 |
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in development of motor skills such as crawling and walking; later, these |
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db-key |
db |
key |
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individuals may have difficulties with activities of daily living and may |
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SNOMED CT |
9748009 |
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eventually require a wheelchair. In more mildly affected individuals, the |
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condition has little impact on walking and other motor skills, although the |
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abnormal movements can lead to clumsiness or difficulty with social acceptance |
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in school or other situations. |
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html:p |
html:i |
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ADCY5 |
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-related dyskinesia, while some affected individuals may experience remission |
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periods of days or weeks without abnormal movements. Life expectancy is not |
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html:i |
-related dyskinesia, and most people with this condition have normal |
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ADCY5 |
intelligence. |
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| 60 |
Adenine phosphoribosyltransferase deficiency |
https://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency |
APRT deficiency is estimated to affect 1 in 27,000 people in Japan. The |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
2,8-dihydroxyadenine urolithiasis |
db |
key |
2012-10 |
2017-12-29 |
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condition is rarer in Europe, where it is thought to affect 1 in 50,000 to |
html:p |
Adenine phosphoribosyltransferase (APRT) deficiency is an inherited condition |
ar |
autosomal recessive |
APRT |
https://ghr.nlm.nih.gov/gene/APRT |
2,8-dihydroxyadeninuria |
GTR |
C0268120 |
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100,000 people. The prevalence of APRT deficiency outside these populations is |
that affects the kidneys and urinary tract. The most common feature of this |
APRT deficiency |
db |
key |
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unknown. |
condition is recurrent kidney stones; urinary tract stones are also a frequent |
DHA crystalline nephropathy |
GeneReviews |
aprt-def |
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symptom. Kidney and urinary tract stones can create blockages in the urinary |
db |
key |
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tract, causing pain during urination and difficulty releasing urine. |
MeSH |
D011686 |
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html:p |
Affected individuals can develop features of this condition anytime from infancy |
db |
key |
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to late adulthood. When the condition appears in infancy, the first sign is |
|
OMIM |
614723 |
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usually the presence of tiny grains of reddish-brown material in the baby's |
db |
key |
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diaper caused by the passing of stones. Later, recurrent kidney and urinary |
Orphanet |
976 |
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tract stones can lead to problems with kidney function beginning as early as |
db |
key |
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mid- to late childhood. Approximately half of individuals with APRT deficiency |
SNOMED CT |
124274002 |
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first experience signs and symptoms of the condition in adulthood. The first |
db |
key |
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features in affected adults are usually kidney stones and related urinary |
|
SNOMED CT |
238009001 |
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problems. Other signs and symptoms of APRT deficiency caused by kidney and |
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urinary tract stones include fever, urinary tract infection, blood in the urine |
SNOMED CT |
238010006 |
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(hematuria), abdominal cramps, nausea, and vomiting. |
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html:p |
Without treatment, kidney function can decline, which may lead to end-stage |
SNOMED CT |
65791008 |
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renal disease (ESRD). ESRD is a life-threatening failure of kidney function that |
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occurs when the kidneys are no longer able to filter fluids and waste products |
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from the body effectively. |
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html:p |
The features of this condition and their severity vary greatly among affected |
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individuals, even among members of the same family. It is estimated that 15 to |
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20 percent of people with APRT deficiency do not have any signs or symptoms of |
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the condition. |
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| 61 |
Adenosine deaminase 2 deficiency |
https://ghr.nlm.nih.gov/condition/adenosine-deaminase-2-deficiency |
Only a few dozen individuals with ADA2 deficiency have been described in |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ADA2 deficiency |
db |
key |
2015-01 |
2017-12-29 |
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the medical literature. However, researchers suspect that it may not be a rare |
html:p |
Adenosine deaminase 2 (ADA2) deficiency is a disorder characterized by abnormal |
ar |
autosomal recessive |
ADA2 |
https://ghr.nlm.nih.gov/gene/ADA2 |
childhood-onset polyarteritis nodosa |
GTR |
C0282492 |
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disease. They are working to determine whether ADA2 deficiency could underlie |
inflammation of various tissues, particularly the blood vessels (vasculitis). |
DADA2 |
db |
key |
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other, more common forms of vasculitis and stroke whose causes are currently |
Signs and symptoms can begin anytime from early childhood to adulthood. The |
deficiency of ADA2 |
GTR |
C3887654 |
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unknown. |
severity of the disorder also varies, even among affected individuals in the |
Sneddon syndrome |
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same family. |
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ICD-10-CM |
M30.0 |
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html:p |
Inflammation is a normal immune system response to injury and foreign invaders |
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(such as bacteria). However, the uncontrolled inflammation that occurs in ADA2 |
MeSH |
D056647 |
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deficiency can damage many of the body's tissues and organs, including the skin, |
db |
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gastrointestinal system, kidneys, and nervous system. Depending on the severity |
OMIM |
182410 |
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and location of the inflammation, the disorder can cause disability or be |
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life-threatening. Features that have been described in people with ADA2 |
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OMIM |
615688 |
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deficiency include fevers that are intermittent, meaning they come and go; areas |
db |
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of net-like, mottled skin discoloration called livedo racemosa; an enlarged |
Orphanet |
820 |
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liver and spleen (hepatosplenomegaly); and recurrent strokes affecting |
db |
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structures deep in the brain that can start in the first few years of life. ADA2 |
Orphanet |
404553 |
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deficiency causes mild immune system abnormalities in some individuals, but it |
db |
key |
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is usually not associated with a significantly increased risk of bacterial and |
SNOMED CT |
155441006 |
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viral infections. |
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html:p |
ADA2 deficiency is sometimes described as a form of polyarteritis nodosa (PAN), |
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a disorder that causes inflammation of blood vessels throughout the body |
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(systemic vasculitis). However, not all researchers classify ADA2 deficiency as |
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a type of PAN. |
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| 62 |
Adenosine deaminase deficiency |
https://ghr.nlm.nih.gov/condition/adenosine-deaminase-deficiency |
Adenosine deaminase deficiency is very rare and is estimated to occur in |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ADA deficiency |
db |
key |
2013-07 |
2017-12-29 |
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approximately 1 in 200,000 to 1,000,000 newborns worldwide. This disorder is |
html:p |
Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the |
ar |
autosomal recessive |
ADA |
https://ghr.nlm.nih.gov/gene/ADA |
ADA-SCID |
GTR |
C1863236 |
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responsible for approximately 15 percent of SCID cases. |
immune system and causes severe combined immunodeficiency (SCID). People with |
adenosine deaminase deficient severe combined immunodeficiency |
db |
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SCID lack virtually all immune protection from bacteria, viruses, and fungi. |
SCID due to ADA deficiency |
GeneReviews |
ada |
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They are prone to repeated and persistent infections that can be very serious or |
severe combined immunodeficiency due to ADA deficiency |
db |
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life-threatening. These infections are often caused by "opportunistic" |
severe combined immunodeficiency, autosomal recessive, T cell-negative, B |
ICD-10-CM |
D81.3 |
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organisms that ordinarily do not cause illness in people with a normal immune |
cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
db |
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system. |
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MeSH |
D016511 |
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html:p |
The main symptoms of ADA deficiency are pneumonia, chronic diarrhea, and |
db |
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widespread skin rashes. Affected children also grow much more slowly than |
OMIM |
102700 |
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healthy children and some have developmental delay. |
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html:p |
Most individuals with ADA deficiency are diagnosed with SCID in the first 6 |
Orphanet |
277 |
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months of life. Without treatment, these babies usually do not survive past age |
db |
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2. In about 10 percent to 15 percent of cases, onset of immune deficiency is |
SNOMED CT |
44940001 |
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delayed to between 6 and 24 months of age (delayed onset) or even until |
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adulthood (late onset). Immune deficiency in these later-onset cases tends to be |
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less severe, causing primarily recurrent upper respiratory and ear infections. |
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Over time, affected individuals may develop chronic lung damage, malnutrition, |
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and other health problems. |
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| 63 |
Adenosine monophosphate deaminase deficiency |
https://ghr.nlm.nih.gov/condition/adenosine-monophosphate-deaminase-deficiency |
AMP deaminase deficiency is one of the most common inherited muscle |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AMP deaminase deficiency |
db |
key |
2016-07 |
2017-12-29 |
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disorders in white populations, affecting 1 in 50 to 100 people. The prevalence |
html:p |
Adenosine monophosphate (AMP) deaminase deficiency is a condition that can |
ar |
autosomal recessive |
AMPD1 |
https://ghr.nlm.nih.gov/gene/AMPD1 |
exercise-induced myopathy |
GTR |
C0268123 |
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is lower in African Americans, affecting an estimated 1 in 40,000 people, and |
affect the muscles used for movement (skeletal muscles). In many affected |
MAD deficiency |
db |
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the condition is even less common in the Japanese population. |
individuals, AMP deaminase deficiency does not cause any symptoms. People who do |
MADA deficiency |
ICD-10-CM |
E79.2 |
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experience symptoms typically have fatigue, muscle pain (myalgia), or cramps |
muscle AMP deaminase deficiency |
db |
key |
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after exercise or prolonged physical activity (exercise intolerance). Following |
myoadenylate deaminase deficiency |
MeSH |
D011686 |
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strenuous activity, they often get tired more quickly and stay tired longer than |
db |
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would normally be expected. In rare cases, affected individuals have more |
OMIM |
615511 |
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severe symptoms including severe muscle weakness, low muscle tone (hypotonia), |
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and muscle wasting (atrophy), but it is unclear whether these symptoms are due |
Orphanet |
45 |
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solely to AMP deaminase deficiency or additional health conditions. Exercise |
db |
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intolerance associated with AMP deaminase deficiency usually becomes apparent in |
SNOMED CT |
124525004 |
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childhood or early adulthood. |
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key |
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SNOMED CT |
9105005 |
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| 64 |
Adenylosuccinate lyase deficiency |
https://ghr.nlm.nih.gov/condition/adenylosuccinate-lyase-deficiency |
Adenylosuccinate lyase deficiency is a rare disorder; fewer than 100 cases |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
adenylosuccinase deficiency |
db |
key |
2014-12 |
2017-12-29 |
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have been reported. The condition is most common in the Netherlands and Belgium, |
html:p |
Adenylosuccinate lyase deficiency is a neurological disorder that causes brain |
ar |
autosomal recessive |
ADSL |
https://ghr.nlm.nih.gov/gene/ADSL |
ADSL deficiency |
GTR |
C0268126 |
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but it has been found worldwide. |
dysfunction (encephalopathy) leading to delayed development of mental and |
succinylpurinemic autism |
db |
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movement abilities (psychomotor delay), autistic behaviors that affect |
MeSH |
D011686 |
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communication and social interaction, and seizures. A characteristic feature |
db |
key |
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that can help with diagnosis of this condition is the presence of chemicals |
OMIM |
103050 |
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called succinylaminoimidazole carboxamide riboside (SAICAr) and |
db |
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succinyladenosine (S-Ado) in body fluids. |
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Orphanet |
46 |
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html:p |
Adenylosuccinate lyase deficiency is classified into three forms based on the |
db |
key |
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severity of the signs and symptoms. The most severe is the neonatal form. Signs |
SNOMED CT |
15285008 |
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and symptoms of this form can be detected at or before birth and can include |
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impaired growth during fetal development and a small head size (microcephaly). |
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Affected newborns have severe encephalopathy, which leads to a lack of movement, |
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difficulty feeding, and life-threatening respiratory problems. Some affected |
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babies develop seizures that do not improve with treatment. Because of the |
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severity of the encephalopathy, infants with this form of the condition |
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generally do not survive more than a few weeks after birth. |
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Adenylosuccinate lyase deficiency type I |
html:p |
Adenylosuccinate lyase deficiency type I (also known as the severe form) is the |
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most common. The signs and symptoms of this form begin in the first months of |
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life. Affected babies have severe psychomotor delay, weak muscle tone |
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(hypotonia), and microcephaly. Many affected infants develop recurrent seizures |
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that are difficult to treat, and some exhibit autistic behaviors, such as |
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repetitive behaviors and a lack of eye contact. |
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adenylosuccinate lyase deficiency type II |
html:p |
In individuals with adenylosuccinate lyase deficiency type II (also known as the |
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moderate or mild form), development is typically normal for the first few years |
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of life but then slows. Psychomotor delay is considered mild or moderate. Some |
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children with this form of the condition develop seizures and autistic |
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behaviors. |
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| 65 |
Adermatoglyphia |
https://ghr.nlm.nih.gov/condition/adermatoglyphia |
Adermatoglyphia appears to be a rare condition. Only a few affected |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
absence of fingerprints |
db |
key |
2015-04 |
2017-12-29 |
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families have been identified worldwide. |
html:p |
Adermatoglyphia is the absence of ridges on the skin on the pads of the fingers |
ad |
autosomal dominant |
SMARCAD1 |
https://ghr.nlm.nih.gov/gene/SMARCAD1 |
ADERM |
GTR |
C1851080 |
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and toes, as well as on the palms of the hands and soles of the feet. The |
ADG |
db |
key |
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ones with no fingerprints |
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patterns of these ridges (called dermatoglyphs) form whorls, arches, and loops |
immigration delay disease |
MeSH |
D003878 |
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that are the basis for each person's unique fingerprints. Because no two people |
db |
key |
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have the same patterns, fingerprints have long been used as a way to identify |
OMIM |
129200 |
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individuals. However, people with adermatoglyphia do not have these ridges, and |
db |
key |
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so they cannot be identified by their fingerprints. Adermatoglyphia has been |
OMIM |
136000 |
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called the "immigration delay disease" because affected individuals have had |
db |
key |
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difficulty entering countries that require fingerprinting for identification. |
|
Orphanet |
1658 |
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html:p |
In some families, adermatoglyphia occurs without any related signs and symptoms. |
db |
key |
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In others, a lack of dermatoglyphs is associated with other features, typically |
Orphanet |
289465 |
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affecting the skin. These can include small white bumps called milia on the |
db |
key |
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face, blistering of the skin in areas exposed to heat or friction, and a reduced |
SNOMED CT |
83145004 |
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number of sweat glands on the hands and feet. Adermatoglyphia is also a feature |
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of several rare syndromes classified as ectodermal dysplasias (外胚层增生不良症), including a |
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condition called Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia |
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pigmentosa reticularis that affects the skin, hair, sweat glands, and teeth. |
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| 66 |
Adiposis dolorosa |
https://ghr.nlm.nih.gov/condition/adiposis-dolorosa |
Adiposis dolorosa is a rare condition whose prevalence is unknown. For |
html |
code |
memo |
synonym |
adiposalgia |
db-key |
key |
2017-12-29 |
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Dercum's disease |
reasons that are unclear, it occurs up to 30 times more often in women than in |
html:p |
Adiposis dolorosa is a condition characterized by painful folds of fatty |
ad |
autosomal dominant |
synonym |
adipose tissue rheumatism |
C0001529 |
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Anders disease |
men. |
|
(adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors |
synonym |
Anders syndrome |
db-key |
key |
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痛性肥胖症 |
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called lipomas. This condition occurs most often in women who are overweight or |
synonym |
Dercum disease |
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obese, and signs and symptoms typically appear between ages 35 and 50. |
synonym |
Dercum-Vitaut syndrome |
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In people with adiposis dolorosa, abnormal fatty tissue or lipomas can occur |
synonym |
Dercum's disease |
103200 |
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anywhere on the body but are most often found on the torso, buttocks, and upper |
synonym |
lipomatosis dolorosa |
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parts of the arms and legs. Lipomas usually feel like firm bumps (nodules) under |
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morbus Dercum |
36397 |
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the skin. The growths cause burning or aching that can be severe. In some |
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people, the pain comes and goes, while in others it is continuous. Movement or |
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pressure on adipose tissue or lipomas can make the pain worse. |
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Other signs and symptoms that have been reported to occur with adiposis dolorosa |
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include general weakness and tiredness (fatigue), depression, irritability, |
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confusion, recurrent seizures (epilepsy), and a progressive decline in |
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intellectual function (dementia). These problems do not occur in everyone with |
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adiposis dolorosa, and it is unclear whether they are directly related to the |
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condition. |
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| 67 |
ADNP syndrome |
https://ghr.nlm.nih.gov/condition/adnp-syndrome |
The prevalence of ADNP syndrome is unknown. It is estimated to account for |
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inheritance-pattern |
code |
memo |
related-gene |
ghr-page |
ADNP-related intellectual disability and autism spectrum disorder |
db-key |
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2017-03 |
2017-12-29 |
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0.17 percent of all cases of autism spectrum disorder, making it one of the most |
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ADNP syndrome is a condition that causes a wide variety of signs and |
n |
not inherited |
https://ghr.nlm.nih.gov/gene/ADNP |
ADNP-related multiple congenital anomalies-intellectual disability-autism |
GTR |
C4014538 |
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common genetic causes of this condition. |
symptoms. Its hallmark features are intellectual disability and autism spectrum disorder, |
spectrum disorder |
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which is characterized by impaired communication and social interaction. Affected |
Helsmoortel-van der Aa syndrome |
GeneReviews |
adnp-dis |
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individuals also have distinctive facial features and abnormalities of multiple body systems. |
HVDAS |
db-key |
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mental retardation, autosomal dominant 28 |
MeSH |
D065886 |
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Individuals with ADNP syndrome have mild to severe intellectual |
MRD28 |
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disability and delayed development of speech and motor skills such as sitting and walking. |
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OMIM |
615873 |
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Some affected individuals are never able to speak. People with this disorder exhibit |
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features typical of autism spectrum disorder, including repetitive behaviors |
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Orphanet |
404448 |
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and difficulty with social interactions. ADNP syndrome is also associated with mood |
syndrome is also associated with mood disorders or behavioral problems, such as |
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disorders or behavioral problems, such as anxiety, temper tantrums, attention deficit- |
anxiety, temper tantrums, attention deficit-hyperactivity disorder (ADHD), |
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hyperactivity disorder (ADHD), obsessive-compulsive disorder, or sleep problems. |
obsessive-compulsive disorder, or sleep problems. |
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html:p |
Many people with ADNP syndrome have distinctive facial features, |
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which most commonly include a prominent forehead, a high hairline, |
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outside corners of the eyes that point upward or downward (upslanting or downslanting |
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palpebral fissures), droopy eyelids (ptosis); a broad nasal bridge, and a thin upper lip. |
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These individuals may also have unusually shaped ears or hand and finger abnormalities. |
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Eye and vision abnormalities, such as eyes that do not point in the same direction |
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(strabismus) and farsightedness (hyperopia), also occur in ADNP syndrome. Some people |
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with this condition have early appearance (eruption) of primary (baby) teeth. |
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html:p |
Some people with ADNP syndrome have weak muscle tone (hypotonia) and |
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feeding difficulties in infancy. They may also have digestive system problems, such as |
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backflow of stomach acids into the esophagus (gastroesophageal reflux), vomiting, and |
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constipation. Other features that occur in ADNP syndrome include obesity, seizures, and |
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heart abnormalities. |
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| 68 |
Adolescent idiopathic scoliosis |
https://ghr.nlm.nih.gov/condition/adolescent-idiopathic-scoliosis |
Adolescent idiopathic scoliosis is the most common spinal abnormality in |
html |
code |
memo |
synonym |
AIS |
db-key |
key |
2017-12-29 |
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青少年原發性脊椎側彎 |
children. It affects an estimated 2 to 3 percent of children in the U.S. |
html:p |
Adolescent idiopathic scoliosis is an abnormal curvature of the spine that |
u |
pattern unknown |
synonym |
late onset idiopathic scoliosis |
C1837461 |
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appears in late childhood or adolescence. Instead of growing straight, the spine |
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develops a side-to-side curvature, usually in an elongated "S" or "C" shape; |
C1846366 |
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the bones of the spine are also slightly twisted or rotated. |
db-key |
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Adolescent idiopathic scoliosis appears during the adolescent growth spurt, a |
C2700406 |
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time when children are growing rapidly. In many cases the abnormal spinal curve |
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is stable, although in some children the curve is progressive (meaning it |
M41.12 |
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becomes more severe over time). For unknown reasons, severe and progressive |
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curves occur more frequently in girls than in boys. However, mild spinal |
M41.122 |
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curvature is equally common in girls and boys. |
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Mild scoliosis generally does not cause pain, problems with movement, or |
M41.123 |
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difficulty breathing. It may only be diagnosed if it is noticed during a regular |
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physical examination or a scoliosis screening at school. The most common signs |
M41.124 |
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of the condition include a tilt or unevenness (asymmetry) in the shoulders, |
db-key |
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hips, or waist, or having one leg that appears longer than the other. A small |
M41.125 |
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percentage of affected children develop more severe, pronounced spinal |
db-key |
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curvature. |
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Scoliosis can occur as a feature of other conditions, including a variety of |
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genetic syndromes. However, adolescent idiopathic scoliosis typically occurs by |
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itself, without signs and symptoms affecting other parts of the body. |
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| 69 |
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia |
https://ghr.nlm.nih.gov/condition/adult-onset-leukoencephalopathy-with-axonal-sp |
ALSP is thought to be a rare disorder, although the prevalence is unknown. |
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code |
memo |
related-gene |
gene-symbol |
ghr-page |
ALSP |
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key |
2015-08 |
2017-12-29 |
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heroids-and-pigmented-glia |
Because it can be mistaken for other disorders with similar symptoms, ALSP may |
html:p |
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) |
ad |
autosomal dominant |
CSF1R |
https://ghr.nlm.nih.gov/gene/CSF1R |
hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia |
GTR |
C1857300 |
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be underdiagnosed. |
is a neurological condition characterized by changes to certain areas of the |
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brain. A hallmark of ALSP is leukoencephalopathy, which is the alteration of a |
GeneReviews |
hdls |
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type of brain tissue called white matter. White matter consists of nerve fibers |
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(axons) covered by a substance called myelin that insulates and protects them. |
MeSH |
D056784 |
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The axons extend from nerve cells (neurons) and transmit nerve impulses |
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throughout the body. Areas of damage to this brain tissue (white matter lesions) |
OMIM |
221820 |
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can be seen with magnetic resonance imaging (MRI). Another feature of ALSP is |
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swellings called spheroids in the axons of the brain, which are a sign of axon |
Orphanet |
313808 |
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damage. Also common in ALSP are abnormally pigmented glial cells. Glial cells |
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are specialized brain cells that protect and maintain neurons. Damage to myelin |
SNOMED CT |
702427005 |
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and neurons is thought to contribute to many of the neurological signs and |
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symptoms in people with ALSP. |
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html:p |
Symptoms of ALSP usually begin in a person's 40s and worsen over time. |
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Personality changes, including depression and a loss of social inhibitions, are |
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among the earliest symptoms of ALSP. Affected individuals may develop memory |
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loss and loss of executive function, which is the ability to plan and implement |
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actions and develop problem-solving strategies. Loss of this function impairs |
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skills such as impulse control, self-monitoring, and focusing attention |
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appropriately. Some people with ALSP have mild seizures, usually only when the |
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condition begins. As ALSP progresses, it causes a severe decline in thinking and |
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reasoning abilities (dementia). |
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html:p |
Over time, motor skills are affected, and people with ALSP may have difficulty |
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walking. Many develop a pattern of movement abnormalities known as parkinsonism, |
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which includes unusually slow movement (bradykinesia), involuntary trembling |
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(tremor), and muscle stiffness (rigidity). The pattern of cognitive and motor |
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problems are variable, even among individuals in the same family, although |
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almost all affected individuals ultimately become unable to walk, speak, and |
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care for themselves. |
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html:p |
ALSP was previously thought to be two separate conditions, hereditary diffuse |
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leukoencephalopathy with spheroids (HDLS) and familial pigmentary orthochromatic |
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leukodystrophy (POLD), both of which cause very similar white matter damage and |
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cognitive and movement problems. POLD was thought to be distinguished by the |
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presence of pigmented glial cells and an absence of spheroids; however, people |
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with HDLS can have pigmented cells, too, and people with POLD can have |
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spheroids. HDLS and POLD are now considered to be part of the same disease |
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spectrum, which researchers have recommended calling ALSP. |
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| 70 |
Adult polyglucosan body disease |
https://ghr.nlm.nih.gov/condition/adult-polyglucosan-body-disease |
Adult polyglucosan body disease is a rare condition; although its exact |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
APBD |
db |
key |
2016-07 |
2017-12-29 |
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prevalence is unknown, at least 70 affected individuals have been described in |
html:p |
Adult polyglucosan body disease is a condition that affects the nervous system. |
ar |
autosomal recessive |
GBE1 |
https://ghr.nlm.nih.gov/gene/GBE1 |
polyglucosan body disease, adult form |
GTR |
C1849722 |
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the medical literature. |
People with this condition have problems walking due to reduced sensation in |
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their legs (peripheral neuropathy) and progressive muscle weakness and stiffness |
GeneReviews |
apbd |
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(spasticity). Damage to the nerves that control bladder function, a condition |
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called neurogenic bladder, causes affected individuals to have progressive |
MeSH |
D002493 |
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difficulty controlling the flow of urine. About half of people with adult |
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polyglucosan body disease experience a decline in intellectual function |
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MeSH |
D006008 |
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(dementia). |
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html:p |
People with adult polyglucosan body disease typically first experience signs and |
OMIM |
263570 |
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symptoms related to the condition between ages 30 and 60. |
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Orphanet |
206583 |
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db |
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SNOMED CT |
721099001 |
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| 71 |
African iron overload |
https://ghr.nlm.nih.gov/condition/african-iron-overload |
African iron overload is common in rural areas of central and southern |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
African hemochromatosis |
db |
key |
2016-07 |
2017-12-29 |
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(Blood) |
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Africa; up to 10 percent of the population in these regions may be affected. Men |
html:p |
African iron overload is a condition that involves absorption of too much iron |
u |
pattern unknown |
SLC40A1 |
https://ghr.nlm.nih.gov/gene/SLC40A1 |
African nutritional hemochromatosis |
GTR |
C0268063 |
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seem to be affected more often than women, possibly due to some combination of |
from the diet. The excess iron is stored in the body's tissues and organs, |
African siderosis |
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differences in dietary iron consumption and women's shedding of excess iron |
particularly the liver, bone marrow, and spleen. Humans cannot increase the |
MeSH |
D012806 |
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through blood loss in menstruation and childbirth.The prevalence of increased |
excretion of iron, although some iron is lost through bleeding or when cells of |
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iron stores in people of African descent in other parts of the world is unknown; |
the intestine (enterocytes) are shed at the end of the cells' lifespan. Iron |
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OMIM |
601195 |
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however, these individuals may be at higher risk of developing mildly increased |
levels in the body are primarily regulated through control of how much iron is |
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iron stores than are people of European background. |
absorbed from the diet. |
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SNOMED CT |
66576001 |
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html:p |
African iron overload results from a diet high in iron. It is particularly |
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associated with consumption of a traditional African beer that contains |
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dissolved iron from the metal drums in which it is brewed. Some evidence |
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suggests that a genetic predisposition to absorbing too much iron may also be |
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involved. |
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html:p |
In African iron overload, excess iron typically accumulates primarily in certain |
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immune cells called reticuloendothelial cells. Reticuloendothelial cells |
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include macrophages in the bone marrow and spleen and Kupffer cells, which are |
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specialized macrophages found in the liver that help protect the body against |
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foreign invaders such as viruses and bacteria. Later in the course of the |
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condition, iron also accumulates in liver cells (hepatocytes). This pattern |
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differs from that seen in a similar iron overload disorder called hereditary |
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hemochromatosis, in which the excess iron accumulates primarily in the |
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hepatocytes. |
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html:p |
When too much iron is absorbed, the resulting iron overload can eventually |
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damage tissues and organs. Iron overload in the liver can lead to chronic liver |
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disease (cirrhosis). Cirrhosis increases the risk of developing a type of liver |
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cancer called hepatocellular carcinoma. Iron overload in immune cells may affect |
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their ability to fight infections. African iron overload is associated with an |
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increased risk of developing infections such as tuberculosis. The excess iron |
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also leads to a faster-than-normal breakdown of vitamin C in the body, so |
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affected individuals are at increased risk of vitamin C deficiency problems such |
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as scurvy. |
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html:p |
People with African iron overload may have a slightly low number of red blood |
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cells (mild anemia), possibly because the iron that accumulates in the liver, |
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bone marrow, and spleen is less available for production of red blood cells. |
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Affected individuals also have high levels of a protein called ferritin in their |
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blood, which can be detected with a blood test. Ferritin stores and releases |
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iron in cells, and cells produce more ferritin in response to excess amounts of |
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iron. |
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| 72 |
Age-related hearing loss |
https://ghr.nlm.nih.gov/condition/age-related-hearing-loss |
Age-related hearing loss is one of the most common health conditions |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
age-related hearing impairment |
db |
key |
2017-10 |
2017-12-29 |
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affecting older adults. Tens of millions of people worldwide are affected. In |
html:p |
Age-related hearing loss (also known as presbycusis) is a decrease in hearing |
u |
pattern unknown |
APOE |
https://ghr.nlm.nih.gov/gene/APOE |
deafness due to old age |
GTR |
C2676230 |
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the United States, an estimated one-third of people over age 65, and half of |
ability that happens with age. In most cases, the hearing loss affects both |
related-gene |
gene-symbol |
ghr-page |
hearing loss, age-related |
db |
key |
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those over 85, have some hearing loss. |
ears. It can begin as early as a person's thirties or forties and worsens |
CDH23 |
https://ghr.nlm.nih.gov/gene/CDH23 |
old-aged sensorineural hearing impairment |
GTR |
C2751814 |
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gradually over time. |
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related-gene |
gene-symbol |
ghr-page |
presbyacusia |
db |
key |
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html:p |
Age-related hearing loss first affects the ability to hear high-frequency |
EDN1 |
https://ghr.nlm.nih.gov/gene/EDN1 |
presbycusis |
ICD-10-CM |
H91.1 |
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sounds, such as speech. Affected people find it increasingly difficult to |
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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understand what others are saying, particularly when there is background noise |
ESRRG |
https://ghr.nlm.nih.gov/gene/ESRRG |
ICD-10-CM |
H91.10 |
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(such as at a party). However, because the hearing loss is gradual, many people |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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do not realize they cannot hear as well as they used to. They may turn up the |
GIPC3 |
https://ghr.nlm.nih.gov/gene/GIPC3 |
ICD-10-CM |
H91.11 |
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television volume or start speaking louder without being aware of it. |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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html:p |
As the hearing loss worsens, it affects more frequencies of sound, making it |
GRHL2 |
https://ghr.nlm.nih.gov/gene/GRHL2 |
ICD-10-CM |
H91.12 |
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difficult to hear more than just speech. Determining where a sound is coming |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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from (localization) and identifying its source become more challenging. Some |
GRM7 |
https://ghr.nlm.nih.gov/gene/GRM7 |
ICD-10-CM |
H91.13 |
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affected individuals also experience a ringing sensation in the ears (tinnitus) |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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or dizziness and problems with balance (presbystasis). |
GRM8 |
https://ghr.nlm.nih.gov/gene/GRM8 |
MeSH |
D011304 |
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html:p |
Age-related hearing loss often impacts a person's quality of life. Because |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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affected individuals have trouble understanding speech, the condition affects |
KCNQ4 |
https://ghr.nlm.nih.gov/gene/KCNQ4 |
OMIM |
612448 |
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their ability to communicate. It can contribute to social isolation, depression, |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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and loss of self-esteem. Age-related hearing loss also causes safety issues if |
MTHFR |
https://ghr.nlm.nih.gov/gene/MTHFR |
OMIM |
612976 |
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individuals become unable to hear smoke alarms, car horns, and other sounds that |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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alert people to dangerous situations. |
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MYO6 |
https://ghr.nlm.nih.gov/gene/MYO6 |
SNOMED CT |
49526009 |
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related-gene |
gene-symbol |
ghr-page |
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MYO7A |
https://ghr.nlm.nih.gov/gene/MYO7A |
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related-gene |
gene-symbol |
ghr-page |
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NAT2 |
https://ghr.nlm.nih.gov/gene/NAT2 |
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related-gene |
gene-symbol |
ghr-page |
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SLC26A4 |
https://ghr.nlm.nih.gov/gene/SLC26A4 |
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related-gene |
gene-symbol |
ghr-page |
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UCP2 |
https://ghr.nlm.nih.gov/gene/UCP2 |
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related-mitochondrial-dna |
name |
ghr-page |
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mitochondrial DNA |
https://ghr.nlm.nih.gov/mitochondrial-dna |
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| 73 |
Age-related macular degeneration |
https://ghr.nlm.nih.gov/condition/age-related-macular-degeneration |
Age-related macular degeneration has an estimated prevalence of 1 in 2,000 |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
age-related maculopathy |
db |
key |
2016-08 |
2017-12-29 |
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老年性黃斑病變 |
people in the United States and other developed countries. The condition |
html:p |
Age-related macular degeneration is an eye disease that is a leading cause of |
u |
pattern unknown |
ABCA4 |
https://ghr.nlm.nih.gov/gene/ABCA4 |
AMD |
GTR |
C0242383 |
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currently affects several million Americans, and the prevalence is expected to |
vision loss in older people in developed countries. The vision loss usually |
related-gene |
gene-symbol |
ghr-page |
ARMD |
db |
key |
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increase over the coming decades as the proportion of older people in the |
becomes noticeable in a person's sixties or seventies and tends to worsen over |
APOE |
https://ghr.nlm.nih.gov/gene/APOE |
macular degeneration, age-related |
GTR |
C1837187 |
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population increases.For reasons that are unclear, age-related macular |
time. |
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related-gene |
gene-symbol |
ghr-page |
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db |
key |
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degeneration affects individuals of European descent more frequently than |
html:p |
Age-related macular degeneration mainly affects central vision, which is needed |
ARMS2 |
https://ghr.nlm.nih.gov/gene/ARMS2 |
GTR |
C1853147 |
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African Americans in the United States. |
for detailed tasks such as reading, driving, and recognizing faces. The vision |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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loss in this condition results from a gradual deterioration of light-sensing |
ASPM |
https://ghr.nlm.nih.gov/gene/ASPM |
GTR |
C1857813 |
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cells in the tissue at the back of the eye that detects light and color (the |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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retina). Specifically, age-related macular degeneration affects a small area |
BEST1 |
https://ghr.nlm.nih.gov/gene/BEST1 |
GTR |
C1857814 |
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near the center of the retina, called the macula, which is responsible for |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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central vision. Side (peripheral) vision and night vision are generally not |
C2 |
https://ghr.nlm.nih.gov/gene/C2 |
GTR |
C1857815 |
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affected, but reduced dim light (scotopic) vision often occurs in the early |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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stages of the disease. |
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C3 |
https://ghr.nlm.nih.gov/gene/C3 |
GTR |
C1864205 |
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html:p |
Researchers have described two major types of age-related macular degeneration, |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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known as the dry form and the wet form. The dry form is much more common, |
C9 |
https://ghr.nlm.nih.gov/gene/C9 |
GTR |
C1969108 |
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accounting for 85 to 90 percent of all cases of age-related macular |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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degeneration. It is characterized by a buildup of yellowish deposits called |
CETP |
https://ghr.nlm.nih.gov/gene/CETP |
GTR |
C1969651 |
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drusen beneath the retina and vision loss that worsens slowly over time. The |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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condition typically affects vision in both eyes, although vision loss often |
CFB |
https://ghr.nlm.nih.gov/gene/CFB |
GTR |
C2677774 |
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occurs in one eye before the other. |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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html:p |
The wet form of age-related macular degeneration is associated with severe |
CFH |
https://ghr.nlm.nih.gov/gene/CFH |
GTR |
C3151060 |
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vision loss that can worsen rapidly. This form of the condition is characterized |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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by the growth of abnormal, fragile blood vessels underneath the macula. These |
CFHR1 |
https://ghr.nlm.nih.gov/gene/CFHR1 |
GTR |
C3151063 |
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vessels leak blood and fluid, which damages the macula and makes central vision |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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appear blurry and distorted. |
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CFHR2 |
https://ghr.nlm.nih.gov/gene/CFHR2 |
GTR |
C3151070 |
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related-gene |
gene-symbol |
ghr-page |
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db |
key |
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CFHR3 |
https://ghr.nlm.nih.gov/gene/CFHR3 |
GTR |
C3151079 |
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related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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CFHR4 |
https://ghr.nlm.nih.gov/gene/CFHR4 |
GTR |
C3495438 |
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related-gene |
gene-symbol |
ghr-page |
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db |
key |
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CFHR5 |
https://ghr.nlm.nih.gov/gene/CFHR5 |
GTR |
C3809523 |
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related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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CFI |
https://ghr.nlm.nih.gov/gene/CFI |
GTR |
C3809653 |
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related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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COL8A1 |
https://ghr.nlm.nih.gov/gene/COL8A1 |
GTR |
C3810042 |
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related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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COL10A1 |
https://ghr.nlm.nih.gov/gene/COL10A1 |
ICD-10-CM |
H35.30 |
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related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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CST3 |
https://ghr.nlm.nih.gov/gene/CST3 |
ICD-10-CM |
H35.31 |
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related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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CX3CR1 |
https://ghr.nlm.nih.gov/gene/CX3CR1 |
ICD-10-CM |
H35.32 |
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related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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|
ELOVL4 |
https://ghr.nlm.nih.gov/gene/ELOVL4 |
MeSH |
D008268 |
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related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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ERCC6 |
https://ghr.nlm.nih.gov/gene/ERCC6 |
OMIM |
153800 |
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related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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|
F13B |
https://ghr.nlm.nih.gov/gene/F13B |
OMIM |
603075 |
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related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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|
FBLN5 |
https://ghr.nlm.nih.gov/gene/FBLN5 |
OMIM |
608895 |
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|
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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|
FILIP1L |
https://ghr.nlm.nih.gov/gene/FILIP1L |
OMIM |
610149 |
|
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|
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
|
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|
FRK |
https://ghr.nlm.nih.gov/gene/FRK |
OMIM |
610698 |
|
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|
|
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
|
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|
HMCN1 |
https://ghr.nlm.nih.gov/gene/HMCN1 |
OMIM |
611378 |
|
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|
|
|
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
|
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|
HTRA1 |
https://ghr.nlm.nih.gov/gene/HTRA1 |
OMIM |
611488 |
|
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|
|
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
|
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|
|
LIPC |
https://ghr.nlm.nih.gov/gene/LIPC |
OMIM |
611953 |
|
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|
|
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
|
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|
|
MAP2 |
https://ghr.nlm.nih.gov/gene/MAP2 |
OMIM |
613757 |
|
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|
|
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
|
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|
|
TIMP3 |
https://ghr.nlm.nih.gov/gene/TIMP3 |
OMIM |
613761 |
|
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|
|
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
|
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|
|
TNFRSF10A |
https://ghr.nlm.nih.gov/gene/TNFRSF10A |
OMIM |
613778 |
|
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|
|
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
|
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|
|
VEGFA |
https://ghr.nlm.nih.gov/gene/VEGFA |
OMIM |
613784 |
|
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|
db |
key |
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|
|
OMIM |
615439 |
|
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|
db |
key |
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|
|
OMIM |
615489 |
|
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|
db |
key |
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|
|
OMIM |
615591 |
|
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|
db |
key |
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|
|
Orphanet |
279 |
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|
db |
key |
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|
|
SNOMED CT |
267718000 |
|
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|
| 74 |
Aicardi-Goutières syndrome |
https://ghr.nlm.nih.gov/condition/aicardi-goutieres-syndrome |
Aicardi-Goutières syndrome is a rare disorder. Its exact prevalence is |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AGS |
db |
key |
2017-11 |
2017-12-29 |
|
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|
|
Aicardi-Goutieres综合征 |
unknown. |
html:p |
Aicardi-Goutières syndrome is a disorder that mainly affects the brain, the |
ad |
autosomal dominant |
ADAR |
https://ghr.nlm.nih.gov/gene/ADAR |
Aicardi-Goutieres syndrome |
GTR |
C0393591 |
|
|
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|
immune system, and the skin. |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Aicardi Goutieres syndrome |
db |
key |
|
|
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|
|
html:p |
Most newborns with Aicardi-Goutières syndrome do not show any signs or symptoms |
ar |
autosomal recessive |
IFIH1 |
https://ghr.nlm.nih.gov/gene/IFIH1 |
Cree encephalitis |
GTR |
C0796126 |
|
|
|
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of the disorder. However, about 20 percent are born with a combination of |
related-gene |
gene-symbol |
ghr-page |
encephalopathy with basal ganglia calcification |
db |
key |
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features that include an enlarged liver and spleen (hepatosplenomegaly), |
RNASEH2A |
https://ghr.nlm.nih.gov/gene/RNASEH2A |
familial infantile encephalopathy with intracranial calcification and chronic |
GTR |
C1835912 |
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elevated blood levels of liver enzymes, a shortage of blood cell fragments |
related-gene |
gene-symbol |
ghr-page |
cerebrospinal fluid lymphocytosis |
db |
key |
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called platelets that are needed for normal blood clotting (thrombocytopenia), |
RNASEH2B |
https://ghr.nlm.nih.gov/gene/RNASEH2B |
pseudotoxoplasmosis syndrome |
GTR |
C1835916 |
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and neurological abnormalities. While this combination of signs and symptoms is |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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typically associated with the immune system's response to a viral infection that |
RNASEH2C |
https://ghr.nlm.nih.gov/gene/RNASEH2C |
GTR |
C2749659 |
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is present at birth (congenital), no actual infection is found in these |
related-gene |
gene-symbol |
ghr-page |
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infants. For this reason, Aicardi-Goutières syndrome is sometimes referred to as |
SAMHD1 |
https://ghr.nlm.nih.gov/gene/SAMHD1 |
GTR |
C3150315 |
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a "mimic of congenital infection." |
related-gene |
gene-symbol |
ghr-page |
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db |
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html:p |
Within the first year of life, most individuals with Aicardi-Goutières syndrome |
TREX1 |
https://ghr.nlm.nih.gov/gene/TREX1 |
GTR |
C3489724 |
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experience an episode of severe brain dysfunction (encephalopathy), typically |
db |
key |
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lasting for several months. During this encephalopathic phase of the disorder, |
GTR |
C3539013 |
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affected babies are usually extremely irritable and do not feed well. They may |
db |
key |
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develop intermittent fevers in the absence of infection (sterile pyrexias) and |
GTR |
C3888244 |
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may have seizures. They stop developing new skills and begin losing skills they |
db |
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had already acquired (developmental regression). Growth of the brain and skull |
GeneReviews |
ags |
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slows down, resulting in an abnormally small head size (microcephaly). In this |
db |
key |
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phase of the disorder, white blood cells and other immune system molecules |
MeSH |
D020279 |
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associated with inflammation can be detected in the cerebrospinal fluid, which |
db |
key |
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is the fluid that surrounds the brain and spinal cord (central nervous system). |
OMIM |
225750 |
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These abnormal findings are consistent with inflammation and tissue damage in |
db |
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the central nervous system. |
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OMIM |
610181 |
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html:p |
The encephalopathic phase of Aicardi-Goutières syndrome causes permanent |
db |
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neurological damage that is usually severe. Medical imaging reveals loss of |
OMIM |
610329 |
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white matter in the brain (leukodystrophy). White matter consists of nerve |
db |
key |
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fibers covered by myelin, which is a substance that protects nerves and insures |
OMIM |
610333 |
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rapid transmission of nerve impulses. Affected individuals also have abnormal |
db |
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deposits of calcium (calcification) in the brain. As a result of this |
|
OMIM |
612952 |
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neurological damage, most people with Aicardi-Goutières syndrome have profound |
db |
key |
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intellectual disability. They also have muscle stiffness (spasticity); |
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OMIM |
615010 |
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involuntary tensing of various muscles (dystonia), especially those in the arms; |
db |
key |
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and weak muscle tone (hypotonia) in the torso. |
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OMIM |
615846 |
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html:p |
Some people with Aicardi-Goutières syndrome have features characteristic of |
db |
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autoimmune disorders, which occur when the immune system malfunctions and |
Orphanet |
51 |
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attacks the body's own systems and organs. Some of these features overlap with |
db |
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those of another disorder called systemic lupus erythematosus (SLE). A feature |
SNOMED CT |
230312006 |
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of SLE that also occurs in about 40 percent of people with Aicardi-Goutières |
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syndrome is a skin problem called chilblains. Chilblains are painful, itchy skin |
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lesions that are puffy and red, and usually appear on the fingers, toes, and |
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ears. They are caused by inflammation of small blood vessels, and may be brought |
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on or made worse by exposure to cold. Vision problems, joint stiffness, and |
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mouth ulcers are other features that can occur in both disorders. |
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html:p |
As a result of the severe neurological problems usually associated with |
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Aicardi-Goutières syndrome, most people with this disorder do not survive past |
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childhood. However, some affected individuals who develop the condition later or |
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have milder neurological problems live into adulthood. |
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| 75 |
Aicardi syndrome |
https://ghr.nlm.nih.gov/condition/aicardi-syndrome |
Aicardi syndrome is a very rare disorder. It occurs in about 1 in 105,000 |
html |
code |
memo |
synonym |
agenesis of corpus callosum with chorioretinal abnormality |
db-key |
key |
2017-12-29 |
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to 167,000 newborns in the United States. Researchers estimate that there are |
html:p |
Aicardi syndrome is a disorder that occurs almost exclusively in females. It is |
xd |
X-linked dominant |
synonym |
agenesis of corpus callosum with infantile spasms and ocular abnormalities |
C0175713 |
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approximately 4,000 affected individuals worldwide. |
characterized by three main features that occur together in most affected |
synonym |
Aicardi's syndrome |
db-key |
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individuals. People with Aicardi syndrome have absent or underdeveloped tissue |
synonym |
callosal agenesis and ocular abnormalities |
aic |
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connecting the left and right halves of the brain (agenesis or dysgenesis of the |
synonym |
chorioretinal anomalies with ACC |
db-key |
key |
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corpus callosum). They have seizures beginning in infancy (infantile spasms), |
D058540 |
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which tend to progress to recurrent seizures (epilepsy) that can be difficult to |
db-key |
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treat. Affected individuals also have chorioretinal lacunae, which are defects |
304050 |
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in the light-sensitive tissue at the back of the eye (retina). |
db-key |
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html:p |
People with Aicardi syndrome often have additional brain abnormalities, |
50 |
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including asymmetry between the two sides of the brain, brain folds and grooves |
db-key |
key |
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that are small in size or reduced in number, cysts, and enlargement of the |
80651009 |
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fluid-filled cavities (ventricles) near the center of the brain. Some have an |
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unusually small head (microcephaly). Most affected individuals have moderate to |
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severe developmental delay and intellectual disability, although some people |
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with this disorder have milder disability. |
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html:p |
In addition to chorioretinal lacunae, people with Aicardi syndrome may have |
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other eye abnormalities such as small or poorly developed eyes (microphthalmia) |
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or a gap or hole (coloboma) in the optic nerve, a structure that carries |
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information from the eye to the brain. These eye abnormalities may cause |
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blindness in affected individuals. |
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html:p |
Some people with Aicardi syndrome have unusual facial features including a short |
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area between the upper lip and the nose (philtrum), a flat nose with an |
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upturned tip, large ears, and sparse eyebrows. Other features of this condition |
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include small hands, hand malformations, and spinal and rib abnormalities |
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leading to progressive abnormal curvature of the spine (scoliosis). They often |
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have gastrointestinal problems such as constipation or diarrhea, |
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gastroesophageal reflux, and difficulty feeding. |
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html:p |
The severity of Aicardi syndrome varies. Some people with this disorder have |
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very severe epilepsy and may not survive past childhood. Less severely affected |
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individuals may live into adulthood with milder signs and symptoms. |
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| 76 |
Alagille syndrome |
https://ghr.nlm.nih.gov/condition/alagille-syndrome |
The estimated prevalence of Alagille syndrome is 1 in 70,000 newborns. This |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Alagille-Watson Syndrome |
db |
key |
2014-12 |
2017-12-29 |
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阿拉吉歐症候群 |
|
figure is based on diagnoses of liver disease in infants, and may be an |
html:p |
Alagille syndrome is a genetic disorder that can affect the liver, heart, and |
ad |
autosomal dominant |
JAG1 |
https://ghr.nlm.nih.gov/gene/JAG1 |
Alagille's syndrome |
GTR |
C1857761 |
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underestimation because some people with Alagille syndrome do not develop liver |
other parts of the body. |
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related-gene |
gene-symbol |
ghr-page |
arteriohepatic dysplasia (AHD) |
db |
key |
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disease during infancy. |
html:p |
One of the major features of Alagille syndrome is liver damage caused by |
NOTCH2 |
https://ghr.nlm.nih.gov/gene/NOTCH2 |
cardiovertebral syndrome |
GTR |
C1956125 |
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abnormalities in the bile ducts. These ducts carry bile (which helps to digest |
related-chromosome |
name |
ghr-page |
cholestasis with peripheral pulmonary stenosis |
db |
key |
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fats) from the liver to the gallbladder and small intestine. In Alagille |
20 |
https://ghr.nlm.nih.gov/chromosome/20 |
hepatic ductular hypoplasia |
GeneReviews |
alagille |
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syndrome, the bile ducts may be narrow, malformed, and reduced in number (bile |
hepatofacioneurocardiovertebral syndrome |
db |
key |
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duct paucity). As a result, bile builds up in the liver and causes scarring that |
paucity of interlobular bile ducts |
MeSH |
D016738 |
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prevents the liver from working properly to eliminate wastes from the |
Watson-Miller syndrome |
db |
key |
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bloodstream. Signs and symptoms arising from liver damage in Alagille syndrome |
OMIM |
118450 |
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may include a yellowish tinge in the skin and the whites of the eyes (jaundice), |
db |
key |
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itchy skin, and deposits of cholesterol in the skin (xanthomas). |
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OMIM |
610205 |
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html:p |
Alagille syndrome is also associated with several heart problems, including |
db |
key |
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impaired blood flow from the heart into the lungs (pulmonic stenosis). Pulmonic |
Orphanet |
52 |
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stenosis may occur along with a hole between the two lower chambers of the heart |
db |
key |
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(ventricular septal defect) and other heart abnormalities. This combination of |
SNOMED CT |
31742004 |
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heart defects is called tetralogy of Fallot. |
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html:p |
People with Alagille syndrome may have distinctive facial features including a |
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broad, prominent forehead; deep-set eyes; and a small, pointed chin. The |
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disorder may also affect the blood vessels within the brain and spinal cord |
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(central nervous system) and the kidneys. Affected individuals may have an |
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unusual butterfly shape of the bones of the spinal column (vertebrae) that can |
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be seen in an x-ray. |
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html:p |
Problems associated with Alagille syndrome generally become evident in infancy |
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or early childhood. The severity of the disorder varies among affected |
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individuals, even within the same family. Symptoms range from so mild as to go |
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unnoticed to severe heart and/or liver disease requiring transplantation. |
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html:p |
Some people with Alagille syndrome may have isolated signs of the disorder, such |
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as a heart defect like tetralogy of Fallot, or a characteristic facial |
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appearance. These individuals do not have liver disease or other features |
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typical of the disorder. |
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| 77 |
Aldosterone-producing adenoma |
https://ghr.nlm.nih.gov/condition/aldosterone-producing-adenoma |
Aldosterone-producing adenomas cause up to 60 percent of cases of primary |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
aldosterone-secreting adenoma |
db |
key |
2017-08 |
2017-12-29 |
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hyperaldosteronism. It is estimated that primary hyperaldosteronism accounts for |
html:p |
An aldosterone-producing adenoma is a noncancerous (benign) tumor that develops |
n |
not inherited |
ATP1A1 |
https://ghr.nlm.nih.gov/gene/ATP1A1 |
aldosteronoma |
MeSH |
D000236 |
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5 to 15 percent of cases of hypertension, which affects approximately 3 in 10 |
in an adrenal gland, which is a small hormone-producing gland located on top of |
related-gene |
gene-symbol |
ghr-page |
Conn adenoma |
db |
key |
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adults worldwide. However, the prevalence of aldosterone-producing adenomas is |
each kidney. In most cases, individuals develop a single benign tumor in one of the |
ATP2B3 |
https://ghr.nlm.nih.gov/gene/ATP2B3 |
primary aldosteronism due to Conn adenoma |
Orphanet |
85142 |
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unknown. |
adrenal glands. The adrenal tumor produces too much of the hormone aldosterone, |
related-gene |
gene-symbol |
ghr-page |
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which is a condition known as primary hyperaldosteronism. Aldosterone helps |
CACNA1D |
https://ghr.nlm.nih.gov/gene/CACNA1D |
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regulate the body's fluid levels and blood pressure by controlling the amount of |
related-gene |
gene-symbol |
ghr-page |
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salt retained by the kidneys. Excess aldosterone causes the kidneys to retain |
CTNNB1 |
https://ghr.nlm.nih.gov/gene/CTNNB1 |
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more salt than normal, which increases the body's fluid levels and blood |
related-gene |
gene-symbol |
ghr-page |
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pressure. People with an aldosterone-producing adenoma may develop severe high |
KCNJ5 |
https://ghr.nlm.nih.gov/gene/KCNJ5 |
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blood pressure (hypertension), and they have an increased risk of heart attack, |
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stroke, or an irregular heart beat (atrial fibrillation). |
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| 78 |
Alexander disease |
https://ghr.nlm.nih.gov/condition/alexander-disease |
The prevalence of Alexander disease is unknown. About 500 cases have been |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Alexander's disease |
db |
key |
2015-10 |
2017-12-29 |
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亚历山大症 |
reported since the disorder was first described in 1949. |
html:p |
Alexander disease is a rare disorder of the nervous system. It is one of a |
ad |
autosomal dominant |
GFAP |
https://ghr.nlm.nih.gov/gene/GFAP |
ALX |
GTR |
C0270726 |
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亞歷山大症 |
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group of disorders, called leukodystrophies, that involve the destruction of |
AxD |
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myelin. Myelin is the fatty covering that insulates nerve fibers and promotes |
demyelinogenic leukodystrophy |
GeneReviews |
alexander |
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the rapid transmission of nerve impulses. If myelin is not properly maintained, |
dysmyelinogenic leukodystrophy |
db |
key |
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the transmission of nerve impulses could be disrupted. As myelin deteriorates |
fibrinoid degeneration of astrocytes |
MeSH |
D038261 |
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in leukodystrophies such as Alexander disease, nervous system functions are |
leukodystrophy with Rosenthal fibers |
db |
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impaired. |
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OMIM |
203450 |
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html:p |
Most cases of Alexander disease begin before age 2 and are described as the |
db |
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infantile form. Signs and symptoms of the infantile form typically include an |
Orphanet |
58 |
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enlarged brain and head size (megalencephaly), seizures, stiffness in the arms |
db |
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and/or legs (spasticity), intellectual disability, and developmental delay. |
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SNOMED CT |
81854007 |
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Less frequently, onset occurs later in childhood (the juvenile form) or in |
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adulthood. Common problems in juvenile and adult forms of Alexander disease |
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include speech abnormalities, swallowing difficulties, seizures, and poor |
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coordination (ataxia). Rarely, a neonatal form of Alexander disease occurs |
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within the first month of life and is associated with severe intellectual |
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disability and developmental delay, a buildup of fluid in the brain |
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(hydrocephalus), and seizures. |
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html:p |
Alexander disease is also characterized by abnormal protein deposits known as |
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Rosenthal fibers. These deposits are found in specialized cells called |
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astroglial cells, which support and nourish other cells in the brain and spinal |
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cord (central nervous system). |
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| 79 |
ALG1-congenital disorder of glycosylation |
https://ghr.nlm.nih.gov/condition/alg1-congenital-disorder-of-glycosylation |
ALG1-CDG appears to be a rare disorder; fewer than 30 affected individuals |
html |
|
inheritance-pattern |
code |
memo |
related-gene |
ghr-page |
ALG1-CDG |
db-key |
db |
key |
2017-12 |
2017-12-29 |
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have been described in the scientific literature. |
html:p |
ALG1-congenital disorder of glycosylation (ALG1-CDG, also known as congenital |
ar |
autosomal recessive |
https://ghr.nlm.nih.gov/gene/ALG1 |
carbohydrate deficient glycoprotein syndrome type Ik |
GTR |
C2931005 |
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disorder of glycosylation type Ik) is an inherited disorder with varying signs |
CDG1K |
db-key |
db |
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and symptoms that typically develop during infancy and can affect several body systems. |
CDGIk |
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GeneReviews |
cdg |
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html:p |
Individuals with ALG1-CDG often have intellectual disability, delayed development, |
congenital disorder of glycosylation type 1K |
db-key |
db |
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and weak muscle tone (hypotonia). Many affected individuals develop seizures that can be |
mannosyltransferase 1 deficiency |
MeSH |
D018981 |
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difficult to treat. Individuals with ALG1-CDG may also have movement problems such as |
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involuntary rhythmic shaking (tremor) or difficulties with movement and balance (ataxia). |
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OMIM |
608540 |
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html:p |
People with ALG1-CDG often have problems with blood clotting, which can lead to abnormal |
db-key |
db |
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clotting or bleeding episodes. Additionally, affected individuals may produce abnormally low |
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Orphanet |
79327 |
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levels of proteins called antibodies (or immunoglobulins), particularly immunoglobulin G (IgG). |
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db-key |
db |
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Antibodies help protect the body against infection by foreign particles and germs. |
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SNOMED CT |
720941007 |
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A reduction in antibodies can make it difficult for affected individuals to |
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fight infections. |
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html:p |
Some people with ALG1-CDG have physical abnormalities such as a small head size |
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(microcephaly); unusual facial features; joint deformities called contractures; long, slender fingers |
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and toes (arachnodactyly); or unusually fleshy pads at the tips of the fingers and toes. Eye |
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problems that may occur in people with this condition include eyes that do not point |
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in the same direction (strabismus) or involuntary eye movements (nystagmus). |
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Rarely, affected individuals develop vision loss. |
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html:p |
Less common abnormalities that occur in people with ALG1-CDG include respiratory problems, |
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reduced sensation in their arms and legs (peripheral neuropathy), swelling (edema), and gastrointestinal difficulties. |
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html:p |
The signs and symptoms of ALG1-CDG are often severe, with affected individuals |
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surviving only into infancy or childhood. However, some people with this |
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condition are more mildly affected and survive into adulthood. |
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| 80 |
ALG12-congenital disorder of glycosylation |
https://ghr.nlm.nih.gov/condition/alg12-congenital-disorder-of-glycosylation |
ALG12-CDG is a rare condition; its prevalence is unknown. Only a handful of |
html |
|
|
inheritance-pattern |
code |
memo |
gene-symbol |
synonym |
ALG12-CDG |
db-key |
db |
key |
2015-01 |
2017-12-29 |
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affected individuals have been described in the medical literature. |
html:p |
ALG12-congenital disorder of glycosylation (ALG12-CDG, also known as |
ar |
autosomal recessive |
ALG12 |
synonym |
CDG Ig |
|
GTR |
C2931001 |
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congenital disorder of glycosylation type Ig) is an inherited disorder with |
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synonym |
CDG1G |
db-key |
db |
key |
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varying signs and symptoms that can affect several body systems. Individuals |
synonym |
congenital disorder of glycosylation type 1G |
GeneReviews |
cdg |
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with ALG12-CDG typically develop signs and symptoms of the condition |
synonym |
congenital disorder of glycosylation type Ig |
db-key |
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during infancy. They may have problems feeding and difficulty growing and gaining |
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MeSH |
D018981 |
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weight at the expected rate (failure to thrive). In addition, affected individuals often have intellectual disability, |
db-key |
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delayed development, and weak muscle tone (hypotonia), and some develop seizures. |
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OMIM |
607143 |
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html:p |
Some people with ALG12-CDG have physical abnormalities such as a small head size (microcephaly) |
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and unusual facial features. These features can include folds of skin that |
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Orphanet |
137 |
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cover the inner corners of the eyes (epicanthal folds), a prominent nasal bridge, |
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and abnormally shaped ears. Some males with ALG12-CDG have abnormal genitalia, |
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Orphanet |
79324 |
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such as a small penis (micropenis) and undescended testes. |
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html:p |
People with ALG12-CDG often produce abnormally low levels of proteins called |
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SNOMED CT |
711155008 |
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antibodies (or immunoglobulins), particularly immunoglobulin G (IgG). Antibodies |
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help protect the body against infection by attaching to specific foreign particles |
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and germs, marking them for destruction. A reduction in antibodies can |
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make it difficult for affected individuals to fight infections. |
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html:p |
html:i |
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ALG12 |
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| 81 |
ALG6-congenital disorder of glycosylation |
https://ghr.nlm.nih.gov/condition/alg6-congenital-disorder-of-glycosylation |
The prevalence of ALG6-CDG is unknown, but it is thought to be the second |
html |
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inheritance-pattern |
code |
related-gene |
ghr-page |
synonym |
ALG6-CDG |
db-key |
db |
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2014-05 |
2017-12-29 |
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most common type of congenital disorder of glycosylation. More than 30 cases of |
html:p |
ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as |
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ar |
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https://ghr.nlm.nih.gov/gene/ALG6 |
synonym |
carbohydrate-deficient glycoprotein syndrome type Ic |
GTR |
C2930997 |
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ALG6-CDG have been described in the scientific literature. |
congenital disorder of glycosylation type Ic) is an inherited condition that |
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synonym |
carbohydrate-deficient glycoprotein syndrome type V |
db-key |
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affects many parts of the body. The signs and symptoms of ALG6-CDG |
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synonym |
CDG syndrome type Ic |
GeneReviews |
cdg |
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vary widely among people with the condition. |
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synonym |
CDG1C |
db-key |
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html:p |
Individuals with ALG6-CDG typically develop signs and symptoms of |
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synonym |
CDGIc |
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MeSH |
D018981 |
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the condition during infancy. They may have difficulty gaining weight |
|
synonym |
congenital disorder of glycosylation type Ic |
db-key |
db |
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and growing at the expected rate (failure to thrive). Affected infants often |
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synonym |
glucosyltransferase 1 deficiency |
OMIM |
603147 |
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have weak muscle tone (hypotonia) and developmental delay. |
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db-key |
db |
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html:p |
People with ALG6-CDG may have seizures, problems with coordination |
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Orphanet |
79320 |
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and balance (ataxia), or stroke-like episodes that involve an extreme lack of |
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db-key |
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energy (lethargy) and temporary paralysis. They may also develop blood clotting disorders. |
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SNOMED CT |
709412006 |
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SomeSome individuals with ALG6-CDG have eye abnormalities including eyes that do not look in the same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes vision loss. Females with ALG6-CDG have hypergonadotropic hypogonadism, which affects the production of hormones that direct sexual development. As a result, most females with ALG6-CDG do not go through puberty. |
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same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes |
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vision loss. Females with ALG6-CDG have hypergonadotropic hypogonadism, |
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which affects the production of hormones that direct sexual development. |
-CDG do not go through puberty. |
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As a result, most females with ALG6-CDG do not go through puberty. |
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| 82 |
Alkaptonuria, AKU |
https://ghr.nlm.nih.gov/condition/alkaptonuria |
This condition is rare, affecting 1 in 250,000 to 1 million people |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AKU |
db |
key |
2013-11 |
2017-12-29 |
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黑尿症 |
|
worldwide. Alkaptonuria is more common in certain areas of Slovakia (where it |
html:p |
Alkaptonuria is an inherited condition that causes urine to turn black when |
ar |
autosomal recessive |
HGD |
https://ghr.nlm.nih.gov/gene/HGD |
alcaptonuria |
GTR |
C0002066 |
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has an incidence of about 1 in 19,000 people) and in the Dominican Republic. |
exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such |
homogentisic acid oxidase deficiency |
db |
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as cartilage and skin, is also characteristic of the disorder. This blue-black |
homogentisic acidura |
GeneReviews |
alkap |
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pigmentation usually appears after age 30. People with alkaptonuria typically |
db |
key |
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develop arthritis, particularly in the spine and large joints, beginning in |
ICD-10-CM |
E70.29 |
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early adulthood. Other features of this condition can include heart problems, |
db |
key |
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kidney stones, and prostate stones. |
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MeSH |
D000474 |
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db |
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OMIM |
203500 |
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db |
key |
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Orphanet |
56 |
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db |
key |
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SNOMED CT |
360381004 |
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| 83 |
Allan-Herndon-Dudley syndrome |
https://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome |
Allan-Herndon-Dudley syndrome appears to be a rare disorder. About 25 |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Allan-Herndon syndrome |
db |
key |
2013-04 |
2017-12-29 |
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families with individuals affected by this condition have been reported |
html:p |
Allan-Herndon-Dudley syndrome is a rare disorder of brain development that |
xr |
X-linked recessive |
SLC16A2 |
https://ghr.nlm.nih.gov/gene/SLC16A2 |
MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency |
GTR |
C0795889 |
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worldwide. |
causes moderate to severe intellectual disability and problems with movement. |
mental retardation, X-linked, with hypotonia |
db |
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This condition, which occurs exclusively in males, disrupts development from |
monocarboxylate transporter 8 (MCT8) deficiency |
GeneReviews |
thctd |
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before birth. Although affected males have impaired speech and a limited |
db |
key |
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ability to communicate, they seem to enjoy interaction with other people. |
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MeSH |
D009123 |
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html:p |
Most children with Allan-Herndon-Dudley syndrome have weak muscle tone |
db |
key |
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(hypotonia) and underdevelopment of many muscles (muscle hypoplasia). As they |
MeSH |
D038901 |
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get older, they usually develop joint deformities called contractures, which |
db |
key |
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restrict the movement of certain joints. Abnormal muscle stiffness (spasticity), |
OMIM |
300523 |
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muscle weakness, and involuntary movements of the arms and legs also limit |
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mobility. As a result, many people with Allan-Herndon-Dudley syndrome are unable |
Orphanet |
59 |
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to walk independently and become wheelchair-bound by adulthood. |
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SNOMED CT |
702327009 |
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| 84 |
Allergic asthma |
https://ghr.nlm.nih.gov/condition/allergic-asthma |
Approximately 235 million people worldwide have asthma. In the United |
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memo |
synonym |
extrinsic asthma |
db-key |
key |
2017-12-29 |
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States, the condition affects an estimated 8 percent of the population. In |
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Asthma is a breathing disorder characterized by inflammation of the airways and |
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pattern unknown |
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C0155877 |
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nearly 90 percent of children and 50 percent of adults with asthma, the |
recurrent episodes of breathing difficulty. These episodes, sometimes referred |
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condition is classified as allergic asthma. |
to as asthma attacks, are triggered by irritation of the inflamed airways. In |
C1869116 |
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allergic asthma, the attacks occur when substances known as allergens are |
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inhaled, causing an allergic reaction. Allergens are harmless substances that |
J45 |
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the body's immune system mistakenly reacts to as though they are harmful. Common |
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allergens include pollen, dust, animal dander, and mold. The immune response |
D001249 |
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leads to the symptoms of asthma. Allergic asthma is the most common form of the |
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disorder. |
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600807 |
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html:p |
A hallmark of asthma is bronchial hyperresponsiveness, which means the airways |
db-key |
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are especially sensitive to irritants and respond excessively. Because of this |
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hyperresponsiveness, attacks can be triggered by irritants other than allergens, |
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such as physical activity, respiratory infections, or exposure to tobacco |
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smoke, in people with allergic asthma. |
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html:p |
An asthma attack is characterized by tightening of the muscles around the |
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airways (bronchoconstriction), which narrows the airway and makes breathing |
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difficult. Additionally, the immune reaction can lead to swelling of the airways |
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and overproduction of mucus. During an attack, an affected individual can |
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experience chest tightness, wheezing, shortness of breath, and coughing. Over |
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time, the muscles around the airways can become enlarged (hypertrophied), |
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further narrowing the airways. |
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html:p |
Some people with allergic asthma have another allergic disorder, such as hay |
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fever (allergic rhinitis) or food allergies. Asthma is sometimes part of a |
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series of allergic disorders, referred to as the atopic march. Development of |
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these conditions typically follows a pattern, beginning with eczema (atopic |
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dermatitis), followed by food allergies, then hay fever, and finally asthma. |
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However, not all individuals with asthma have progressed through the atopic |
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march, and not all individuals with one allergic disease will develop others. |
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| 85 |
Alpers-Huttenlocher syndrome |
https://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome |
The prevalence of Alpers-Huttenlocher syndrome is approximately 1 in |
html |
inheritance-pattern |
code |
memo |
related-gene |
gene-symbol |
synonym |
db-key |
db |
key |
2011-06 |
2017-12-29 |
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100,000 individuals. |
html:p |
Alpers-Huttenlocher syndrome is one of the most severe of a group of conditions |
ar |
autosomal recessive |
POLG |
synonym |
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GTR |
C0205710 |
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called the POLG-related disorders. The conditions in this group feature a |
synonym |
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range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. |
synonym |
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GeneReviews |
alpers |
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Alpers-Huttenlocher syndrome typically becomes apparent in children between |
synonym |
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ages 2 and 4. People with this condition usually have three characteristic features: |
synonym |
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ICD-10-CM |
G31.81 |
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recurrent seizures that do not improve with treatment (intractable epilepsy), |
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loss of mental and movement abilities (psychomotor regression), and liver disease. |
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MeSH |
D002549 |
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html:p |
People with Alpers-Huttenlocher syndrome usually have additional signs and |
|
OMIM |
203700 |
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symptoms. Most have problems with coordination and balance (ataxia) and |
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disturbances in nerve function (neuropathy). Neuropathy can lead to abnormal or |
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Orphanet |
726 |
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absent reflexes (areflexia). In addition, affected individuals may develop weak |
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muscle tone (hypotonia) that worsens until they lose the ability to control |
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SNOMED CT |
20415001 |
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their muscles and movement. Some people with Alpers-Huttenlocher syndrome lose |
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the ability to walk, sit, or feed themselves. Other movement-related symptoms in |
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affected individuals can include involuntary muscle twitches (myoclonus), |
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uncontrollable movements of the limbs (choreoathetosis), or a pattern of |
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movement abnormalities known as parkinsonism. |
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html:p |
Affected individuals may have other brain-related signs and symptoms. Migraine |
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headaches, often with visual sensations or auras, are common. Additionally, |
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people with this condition may have decreased brain function that is |
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demonstrated as sleepiness, inability to concentrate, irritability, or loss of |
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language skills or memory. Some people with the condition may lose their |
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eyesight or hearing. People with Alpers-Huttenlocher syndrome can survive from a |
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few months to more than 10 years after the condition first appears. |
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| 86 |
Alpha-1 antitrypsin deficiency |
https://ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency |
Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence varies |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AAT |
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key |
2013-01 |
2017-12-29 |
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α1-抗胰蛋白酶缺乏症 |
by population. This disorder affects about 1 in 1,500 to 3,500 individuals with |
html:p |
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung |
ar |
autosomal recessive |
SERPINA1 |
https://ghr.nlm.nih.gov/gene/SERPINA1 |
AATD |
GTR |
C0221757 |
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European ancestry. It is uncommon in people of Asian descent. Many individuals |
disease and liver disease. The signs and symptoms of the condition and the age |
alpha-1 protease inhibitor deficiency |
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with alpha-1 antitrypsin deficiency are likely undiagnosed, particularly people |
at which they appear vary among individuals. |
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alpha-1 related emphysema |
GeneReviews |
alpha1-a |
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with a lung condition called chronic obstructive pulmonary disease (COPD). COPD |
html:p |
People with alpha-1 antitrypsin deficiency usually develop the first signs and |
genetic emphysema |
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can be caused by alpha-1 antitrypsin deficiency; however, the alpha-1 |
symptoms of lung disease between ages 20 and 50. The earliest symptoms are |
hereditary pulmonary emphysema |
ICD-10-CM |
E88.01 |
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antitrypsin deficiency is often never diagnosed. Some people with alpha-1 |
shortness of breath following mild activity, reduced ability to exercise, and |
inherited emphysema |
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antitrypsin deficiency are misdiagnosed with asthma. |
wheezing. Other signs and symptoms can include unintentional weight loss, |
MeSH |
D019896 |
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recurring respiratory infections, fatigue, and rapid heartbeat upon standing. |
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Affected individuals often develop emphysema, which is a lung disease caused by |
OMIM |
613490 |
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damage to the small air sacs in the lungs (alveoli). Characteristic features of |
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emphysema include difficulty breathing, a hacking cough, and a barrel-shaped |
Orphanet |
60 |
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chest. Smoking or exposure to tobacco smoke accelerates the appearance of |
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emphysema symptoms and damage to the lungs. |
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SNOMED CT |
30188007 |
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html:p |
About 10 percent of infants with alpha-1 antitrypsin deficiency develop liver |
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disease, which often causes yellowing of the skin and whites of the eyes |
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(jaundice). Approximately 15 percent of adults with alpha-1 antitrypsin |
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deficiency develop liver damage (cirrhosis) due to the formation of scar tissue |
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in the liver. Signs of cirrhosis include a swollen abdomen, swollen feet or |
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swollen legs, and jaundice. Individuals with alpha-1 antitrypsin deficiency are also at |
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risk of developing a type of liver cancer called hepatocellular carcinoma. |
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html:p |
In rare cases, people with alpha-1 antitrypsin deficiency develop a skin |
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condition called panniculitis, which is characterized by hardened skin with |
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painful lumps or patches. Panniculitis varies in severity and can occur at any |
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age. |
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| 87 |
Alpha-mannosidosis |
https://ghr.nlm.nih.gov/condition/alpha-mannosidosis |
Alpha-mannosidosis is estimated to occur in approximately 1 in 500,000 |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
alpha-D-mannosidosis |
db |
key |
2014-05 |
2017-12-29 |
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甘露糖症 |
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people worldwide. |
html:p |
Alpha-mannosidosis is a rare inherited disorder that causes problems in many |
ar |
autosomal recessive |
MAN2B1 |
https://ghr.nlm.nih.gov/gene/MAN2B1 |
alpha-mannosidase B deficiency |
GTR |
C0024748 |
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organs and tissues of the body. Affected individuals may have intellectual |
alpha-mannosidase deficiency |
db |
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disability, distinctive facial features, and skeletal abnormalities. |
deficiency of alpha-mannosidase |
GeneReviews |
a-mannosidosis |
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Characteristic facial features can include a large head, prominent forehead, low |
lysosomal alpha B mannosidosis |
db |
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hairline, rounded eyebrows, large ears, flattened bridge of the nose, |
lysosomal alpha-D-mannosidase deficiency |
MeSH |
D008363 |
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protruding jaw, widely spaced teeth, overgrown gums, and large tongue. The |
mannosidosis |
db |
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skeletal abnormalities that can occur in this disorder include reduced bone |
OMIM |
248500 |
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density (osteopenia), thickening of the bones at the top of the skull |
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(calvaria), deformations of the bones in the spine (vertebrae), bowed legs or |
Orphanet |
61 |
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knock knees, and deterioration of the bones and joints. |
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html:p |
Affected individuals may also experience difficulty in coordinating movements |
SNOMED CT |
124466001 |
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(ataxia); muscle weakness (myopathy); delay in developing motor skills such as |
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sitting and walking; speech impairments; increased risk of infections; |
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enlargement of the liver and spleen (hepatosplenomegaly); a buildup of fluid in |
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the brain (hydrocephalus); hearing loss; and a clouding of the lens of the eye |
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(cataract). Some people with alpha-mannosidosis experience psychiatric symptoms |
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such as depression, anxiety, or hallucinations; episodes of psychiatric |
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disturbance may be triggered by stressors such as having undergone surgery, |
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emotional upset, or changes in routine. |
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html:p |
The signs and symptoms of alpha-mannosidosis can range from mild to severe. The |
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disorder may appear in infancy with rapid progression and severe neurological |
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deterioration. Individuals with this early-onset form of alpha-mannosidosis |
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often do not survive past childhood. In the most severe cases, an affected fetus |
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may die before birth. Other individuals with alpha-mannosidosis experience |
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milder signs and symptoms that appear later and progress more slowly. People |
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with later-onset alpha-mannosidosis may survive into their fifties. The mildest |
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cases may be detected only through laboratory testing and result in few if any |
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symptoms. |
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| 88 |
Alpha-methylacyl-CoA racemase deficiency |
https://ghr.nlm.nih.gov/condition/alpha-methylacyl-coa-racemase-deficiency |
AMACR deficiency is a rare disorder. Its prevalence is unknown. At least 10 |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AMACR deficiency |
db |
key |
2013-12 |
2017-12-29 |
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cases have been described in the medical literature. |
html:p |
Alpha-methylacyl-CoA racemase (AMACR) deficiency is a disorder that causes a |
ar |
autosomal recessive |
AMACR |
https://ghr.nlm.nih.gov/gene/AMACR |
GTR |
C1858325 |
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variety of neurological problems that begin in adulthood and slowly get worse. |
db |
key |
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People with AMACR deficiency may have a gradual loss in intellectual functioning |
MeSH |
D018901 |
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(cognitive decline), seizures, and migraines. They may also have acute episodes |
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of brain dysfunction (encephalopathy) similar to stroke, involving altered |
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OMIM |
614307 |
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consciousness and areas of damage (lesions) in the brain. Other features of |
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AMACR deficiency may include weakness and loss of sensation in the limbs due to |
SNOMED CT |
700463002 |
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nerve damage (sensorimotor neuropathy), muscle stiffness (spasticity), and |
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difficulty coordinating movements (ataxia). Vision problems caused by |
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deterioration of the light-sensitive layer at the back of the eye (the retina) |
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can also occur in this disorder. |
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| 89 |
Alpha thalassemia |
https://ghr.nlm.nih.gov/condition/alpha-thalassemia |
Alpha thalassemia is a fairly common blood disorder worldwide. Thousands of |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
alpha-thalassemia |
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key |
2017-06 |
2017-12-29 |
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甲型地中海貧血 |
infants with Hb Bart syndrome and HbH disease are born each year, particularly |
html:p |
Alpha thalassemia is a blood disorder that reduces the production of hemoglobin. |
u |
pattern unknown |
HBA1 |
https://ghr.nlm.nih.gov/gene/HBA1 |
α-thalassemia |
GTR |
C0002312 |
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in Southeast Asia. Alpha thalassemia also occurs frequently in people from |
Hemoglobin is the protein in red blood cells that carries oxygen to cells |
related-gene |
gene-symbol |
ghr-page |
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Mediterranean countries, Africa, the Middle East, India, and Central Asia. |
throughout the body. |
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HBA2 |
https://ghr.nlm.nih.gov/gene/HBA2 |
GeneReviews |
a-thal |
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甲型地中海貧血是一種遺傳性的血液病況,最常見於祖先源於亞洲國家的人,包括中國、菲律賓、馬來西亞、泰國、柬埔寨、老撾 (寮國)、越南、緬甸、印度和斯里蘭卡,但祖籍世界其他地區的人亦發現有這種病。 |
html:p |
In people with the characteristic features of alpha thalassemia, a reduction in |
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the amount of hemoglobin prevents enough oxygen from reaching the body's |
ICD-10-CM |
D56.0 |
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tissues. Affected individuals also have a shortage of red blood cells (anemia), |
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which can cause pale skin, weakness, fatigue, and more serious complications. |
ICD-10-CM |
D56.3 |
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html:p |
Two types of alpha thalassemia can cause health problems. The more severe type |
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is known as hemoglobin Bart hydrops fetalis syndrome, which is also called Hb |
MeSH |
D017085 |
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Bart syndrome or alpha thalassemia major. The milder form is called HbH disease. |
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Hb Bart syndrome |
html:p |
Hb Bart syndrome is characterized by hydrops fetalis, a condition in which |
OMIM |
141800 |
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excess fluid builds up in the body before birth. Additional signs and symptoms |
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can include severe anemia, an enlarged liver and spleen (hepatosplenomegaly), |
OMIM |
141850 |
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heart defects, and abnormalities of the urinary system or abnormalities of the genitalia. As a result |
db |
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of these serious health problems, most babies with this condition are stillborn |
OMIM |
604131 |
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or die soon after birth. Hb Bart syndrome can also cause serious complications |
db |
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for women during pregnancy, including dangerously high blood pressure with |
Orphanet |
846 |
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swelling (preeclampsia), premature delivery, and abnormal bleeding. |
db |
key |
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HbH disease |
|
html:p |
HbH disease causes mild to moderate anemia, hepatosplenomegaly, and yellowing of |
SNOMED CT |
68913001 |
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the eyes and skin (jaundice). Some affected individuals also have bone changes |
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such as overgrowth of the upper jaw and an unusually prominent forehead. The |
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features of HbH disease usually appear in early childhood, and affected |
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individuals typically live into adulthood. |
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| 90 |
Alpha thalassemia X-linked intellectual disability syndrome |
https://ghr.nlm.nih.gov/condition/alpha-thalassemia-x-linked-intellectual-disabi |
Alpha thalassemia X-linked intellectual disability syndrome appears to be a |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
alpha-thalassemia X-linked mental retardation syndrome |
db |
key |
2009-08 |
2017-12-29 |
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lity-syndrome |
rare condition, although its exact prevalence is unknown. More than 200 |
html:p |
Alpha thalassemia X-linked intellectual disability syndrome is an inherited |
xr |
X-linked recessive |
ATRX |
https://ghr.nlm.nih.gov/gene/ATRX |
alpha thalassemia X-linked mental retardation syndrome |
GTR |
C1845055 |
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affected individuals have been reported. |
disorder that affects many parts of the body. This condition occurs almost |
alpha-thalassemia/mental retardation syndrome, nondeletion type |
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exclusively in males. |
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alpha thalassemia/mental retardation, X-linked |
GeneReviews |
xlmr |
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html:p |
Males with alpha thalassemia X-linked intellectual disability syndrome have |
ATR-X syndrome |
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intellectual disability and delayed development. Their speech is significantly |
ATRX syndrome |
ICD-10-CM |
D56.0 |
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delayed, and most never speak or sign more than a few words. Most affected |
X-linked alpha-thalassemia/mental retardation syndrome |
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children have weak muscle tone (hypotonia), which delays motor skills such as |
XLMR-hypotonic face syndrome |
MeSH |
D038901 |
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sitting, standing, and walking. Some people with this disorder are never able to |
db |
key |
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walk independently. |
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OMIM |
301040 |
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html:p |
Almost everyone with alpha thalassemia X-linked intellectual disability syndrome |
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has distinctive facial features, including widely spaced eyes, a small nose |
Orphanet |
847 |
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with upturned nostrils, and low-set ears. The upper lip is shaped like an |
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upside-down "V," and the lower lip tends to be prominent. These facial |
|
SNOMED CT |
277918006 |
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characteristics are most apparent in early childhood. Over time, the facial |
db |
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features become coarser, including a flatter face with a shortened nose. |
|
SNOMED CT |
715342005 |
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html:p |
Most affected individuals have mild signs of a blood disorder called alpha |
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thalassemia. This disorder reduces the production of hemoglobin, which is the |
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protein in red blood cells that carries oxygen to cells throughout the body. A |
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reduction in the amount of hemoglobin prevents enough oxygen from reaching the |
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body's tissues. Rarely, affected individuals also have a shortage of red blood |
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cells (anemia), which can cause pale skin, weakness, and fatigue. |
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html:p |
Additional features of alpha thalassemia X-linked intellectual disability |
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syndrome include an unusually small head size (microcephaly), short stature, and |
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skeletal abnormalities. Many affected individuals have problems with the |
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digestive system, such as a backflow of stomach acids into the esophagus |
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(gastroesophageal reflux) and chronic constipation. Genital abnormalities are |
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also common; affected males may have undescended testes and the opening of the |
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urethra on the underside of the penis (hypospadias). In more severe cases, the |
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external genitalia do not look clearly male or female (ambiguous genitalia). |
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| 91 |
Alport syndrome |
https://ghr.nlm.nih.gov/condition/alport-syndrome |
Alport syndrome occurs in approximately 1 in 50,000 newborns. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
congenital hereditary hematuria |
db |
key |
2013-12 |
2017-12-29 |
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Alport综合征 |
|
html:p |
Alport syndrome is a genetic condition characterized by kidney disease, hearing |
ad |
autosomal dominant |
COL4A3 |
https://ghr.nlm.nih.gov/gene/COL4A3 |
hematuria-nephropathy-deafness syndrome |
GTR |
C1567741 |
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艾柏症候群 |
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loss, and eye abnormalities. |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
hematuric hereditary nephritis |
db |
key |
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html:p |
People with Alport syndrome experience progressive loss of kidney function. |
ar |
autosomal recessive |
COL4A4 |
https://ghr.nlm.nih.gov/gene/COL4A4 |
hemorrhagic familial nephritis |
GTR |
C1567742 |
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Almost all affected individuals have blood in their urine (hematuria), which |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
hemorrhagic hereditary nephritis |
db |
key |
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indicates abnormal functioning of the kidneys. Many people with Alport syndrome |
xr |
X-linked recessive |
COL4A5 |
https://ghr.nlm.nih.gov/gene/COL4A5 |
hereditary familial congenital hemorrhagic nephritis |
GTR |
C1567743 |
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also develop high levels of protein in their urine (proteinuria). The kidneys |
hereditary hematuria syndrome |
db |
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become less able to function as this condition progresses, resulting in |
hereditary interstitial pyelonephritis |
GTR |
C1567744 |
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end-stage renal disease (ESRD). |
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hereditary nephritis |
db |
key |
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html:p |
People with Alport syndrome frequently develop sensorineural hearing loss, which |
GeneReviews |
alport |
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is caused by abnormalities of the inner ear, during late childhood or early |
db |
key |
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adolescence. Affected individuals may also have misshapen lenses in the eyes |
ICD-10-CM |
Q87.81 |
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(anterior lenticonus) and abnormal coloration of the light-sensitive tissue at |
db |
key |
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the back of the eye (retina). These eye abnormalities seldom lead to vision |
MeSH |
D009394 |
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loss. |
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db |
key |
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html:p |
Significant hearing loss, eye abnormalities, and progressive kidney disease are |
OMIM |
104200 |
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more common in males with Alport syndrome than in affected females. |
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db |
key |
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OMIM |
203780 |
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db |
key |
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OMIM |
301050 |
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db |
key |
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Orphanet |
63 |
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db |
key |
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SNOMED CT |
717766000 |
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db |
key |
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SNOMED CT |
717767009 |
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db |
key |
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SNOMED CT |
717768004 |
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| 92 |
Alström syndrome |
https://ghr.nlm.nih.gov/condition/alstrom-syndrome |
More than 900 people with Alström syndrome have been reported worldwide. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ALMS |
db |
key |
2014-09 |
2017-12-29 |
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Alstrom 氏症候群 |
|
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html:p |
Alström syndrome is a rare condition that affects many body systems. Many of the |
ar |
autosomal recessive |
ALMS1 |
https://ghr.nlm.nih.gov/gene/ALMS1 |
Alstrom-Hallgren syndrome |
GTR |
C0268425 |
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signs and symptoms of this condition begin in infancy or early childhood, |
Alstrom syndrome |
db |
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although some appear later in life. |
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GeneReviews |
alstrom |
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html:p |
Alström syndrome is characterized by a progressive loss of vision and hearing, a |
db |
key |
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form of heart disease that enlarges and weakens the heart muscle (dilated |
MeSH |
D056769 |
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cardiomyopathy), obesity, type 2 diabetes (the most common form of diabetes), |
db |
key |
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and short stature. This disorder can also cause serious or life-threatening |
OMIM |
203800 |
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medical problems involving the liver, kidneys, bladder, and lungs. Some |
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db |
key |
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individuals with Alström syndrome have a skin condition called acanthosis |
Orphanet |
64 |
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nigricans, which causes the skin in body folds and creases to become thick, |
db |
key |
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dark, and velvety. The signs and symptoms of Alström syndrome vary in severity, |
SNOMED CT |
63702009 |
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and not all affected individuals have all of the characteristic features of the |
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disorder. |
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| 93 |
Alternating hemiplegia of childhood (AHC) |
https://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood |
Alternating hemiplegia of childhood is a rare condition that affects |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
alternating hemiplegia syndrome |
db |
key |
2016-09 |
2017-12-29 |
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兒童交替性偏癱 |
approximately 1 in 1 million people. |
html:p |
Alternating hemiplegia of childhood is a neurological condition characterized by |
ad |
autosomal dominant |
ATP1A2 |
https://ghr.nlm.nih.gov/gene/ATP1A2 |
GTR |
C3549447 |
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recurrent episodes of temporary paralysis, often affecting one side of the body |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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(hemiplegia). During some episodes, the paralysis alternates from one side of |
ATP1A3 |
https://ghr.nlm.nih.gov/gene/ATP1A3 |
GTR |
C3553788 |
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the body to the other or affects both sides at the same time. These episodes |
db |
key |
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begin in infancy or early childhood, usually before 18 months of age, and the |
MeSH |
D006429 |
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paralysis lasts from minutes to days. |
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db |
key |
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html:p |
In addition to paralysis, affected individuals can have sudden attacks of |
OMIM |
104290 |
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uncontrollable muscle activity; these can cause involuntary limb movements |
db |
key |
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(choreoathetosis), muscle tensing (dystonia), movement of the eyes (nystagmus), |
OMIM |
614820 |
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or shortness of breath (dyspnea). People with alternating hemiplegia of |
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key |
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childhood may also experience sudden redness and warmth (flushing) or unusual |
Orphanet |
2131 |
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paleness (pallor) of the skin. These attacks can occur during or separately from |
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episodes of hemiplegia. |
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SNOMED CT |
230466004 |
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html:p |
The episodes of hemiplegia or uncontrolled movements can be triggered by certain |
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factors, such as stress, extreme tiredness, cold temperatures, or bathing, |
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although the trigger is not always known. A characteristic feature of |
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alternating hemiplegia of childhood is that all symptoms disappear while the |
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affected person is sleeping but can reappear shortly after awakening. The number |
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and length of the episodes initially worsen throughout childhood but then begin |
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to decrease over time. The uncontrollable muscle movements may disappear |
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entirely, but the episodes of hemiplegia occur throughout life. |
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html:p |
Alternating hemiplegia of childhood also causes mild to severe cognitive |
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problems. Almost all affected individuals have some level of developmental delay |
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and intellectual disability. Their cognitive functioning typically declines |
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over time. |
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| 94 |
Alveolar capillary dysplasia with misalignment of pulmonary veins |
https://ghr.nlm.nih.gov/condition/alveolar-capillary-dysplasia-with-misalignment |
ACD/MPV is a rare disorder; its incidence is unknown. Approximately 200 |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ACD |
db |
key |
2015-08 |
2017-12-29 |
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-of-pulmonary-veins |
infants with this disorder have been identified worldwide. |
html:p |
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a |
ad |
autosomal dominant |
FOXF1 |
https://ghr.nlm.nih.gov/gene/FOXF1 |
ACD/MPV |
GTR |
C0031190 |
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disorder affecting the development of the lungs and their blood vessels. The |
code |
memo |
related-chromosome |
name |
ghr-page |
ACDMPV |
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disorder affects the millions of small air sacs (alveoli) in the lungs and the |
ar |
autosomal recessive |
16 |
https://ghr.nlm.nih.gov/chromosome/16 |
alveolar capillary dysplasia |
MeSH |
D010547 |
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tiny blood vessels (capillaries) in the alveoli. It is through these alveolar |
congenital alveolar capillary dysplasia |
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capillaries that inhaled oxygen enters the bloodstream for distribution |
familial persistent pulmonary hypertension of the newborn |
OMIM |
265380 |
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throughout the body and carbon dioxide leaves the bloodstream to be exhaled. |
misalignment of the pulmonary vessels |
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key |
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html:p |
In ACD/MPV, the alveolar capillaries fail to develop normally. The number of |
Orphanet |
210122 |
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capillaries is drastically reduced, and existing capillaries are improperly |
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positioned within the walls of the alveoli. These abnormalities in capillary |
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SNOMED CT |
206597007 |
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number and location impede the exchange of oxygen and carbon dioxide. |
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html:p |
Other abnormalities of the blood vessels in the lungs also occur in ACD/MPV. |
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The veins that carry blood from the lungs into the heart (pulmonary veins) are |
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improperly positioned and may be abnormally bundled together with arteries that |
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carry blood from the heart to the lungs (pulmonary arteries). The muscle tissue |
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in the walls of the pulmonary arteries may be overgrown, resulting in thicker |
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artery walls and a narrower channel. These changes restrict normal blood flow, |
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which causes high blood pressure in the pulmonary arteries (pulmonary |
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hypertension) and requires the heart to pump harder. |
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html:p |
Most infants with ACD/MPV are born with additional abnormalities. These may |
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include abnormal twisting (malrotation) of the large intestine or other |
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malformations of the gastrointestinal tract. Cardiovascular and genitourinary |
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abnormalities are also common in affected individuals. |
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html:p |
Infants with ACD/MPV typically develop respiratory distress within a few minutes |
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to a few hours after birth. They experience shortness of breath and cyanosis, |
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which is a bluish appearance of the skin, mucous membranes, or the area |
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underneath the fingernails caused by a lack of oxygen in the blood. Without lung |
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transplantation, infants with ACD/MPV have not been known to survive past one |
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year of age, and most affected infants live only a few weeks. |
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| 95 |
Alzheimer disease |
https://ghr.nlm.nih.gov/condition/alzheimer-disease |
Alzheimer disease currently affects an estimated 2.4 million to 4.5 million |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AD |
db |
key |
2013-05 |
2017-12-29 |
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阿茲海默症 |
Americans. Because the risk of developing Alzheimer disease increases with age |
html:p |
Alzheimer disease is a degenerative disease of the brain that causes dementia, |
ad |
autosomal dominant |
APOE |
https://ghr.nlm.nih.gov/gene/APOE |
Alzheimer dementia (AD) |
GTR |
C0002395 |
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and more people are living longer, the number of people with this disease is |
which is a gradual loss of memory, judgment, and ability to function. This |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Alzheimer sclerosis |
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expected to increase significantly in coming decades. |
disorder usually appears in people older than age 65, but less common forms of |
u |
pattern unknown |
APP |
https://ghr.nlm.nih.gov/gene/APP |
Alzheimer syndrome |
GTR |
C1843013 |
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the disease appear earlier in adulthood. |
related-gene |
gene-symbol |
ghr-page |
Alzheimer-type dementia (ATD) |
db |
key |
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html:p |
Memory loss is the most common sign of Alzheimer disease. Forgetfulness may be |
PSEN1 |
https://ghr.nlm.nih.gov/gene/PSEN1 |
Alzheimer's Disease |
GTR |
C1847200 |
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subtle at first, but the loss of memory worsens over time until it interferes |
related-gene |
gene-symbol |
ghr-page |
DAT |
db |
key |
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with most aspects of daily living. Even in familiar settings, a person with |
PSEN2 |
https://ghr.nlm.nih.gov/gene/PSEN2 |
familial Alzheimer disease (FAD) |
GTR |
C1863051 |
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Alzheimer disease may get lost or become confused. Routine tasks such as |
Presenile and senile dementia |
db |
key |
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preparing meals, doing laundry, and performing other household chores can be |
Primary Senile Degenerative Dementia |
GeneReviews |
alzheimer |
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challenging. Additionally, it may become difficult to recognize people and name |
SDAT |
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key |
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objects. Affected people increasingly require help with dressing, eating, and |
GeneReviews |
alzheimer-early |
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personal care. |
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html:p |
As the disorder progresses, some people with Alzheimer disease experience |
ICD-10-CM |
G30 |
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personality and behavioral changes and have trouble interacting in a socially |
db |
key |
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appropriate manner. Other common symptoms include agitation, restlessness, |
ICD-10-CM |
G30.0 |
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withdrawal, and loss of language skills. People with this disease usually |
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require total care during the advanced stages of the disease. Affected |
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ICD-10-CM |
G30.1 |
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individuals usually survive 8 to 10 years after the appearance of symptoms, but |
db |
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the course of the disease can range from 1 to 25 years. Death usually results |
ICD-10-CM |
G30.8 |
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early-onset |
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from pneumonia, malnutrition, or general body wasting (inanition). |
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db |
key |
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html:p |
Alzheimer disease can be classified as early-onset or late-onset. The signs and |
ICD-10-CM |
G30.9 |
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late-onset |
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symptoms of the early-onset form appear before age 65, while the late-onset |
db |
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晚發性 |
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form appears after age 65. The early-onset form is much less common than the |
MeSH |
D000544 |
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late-onset form, accounting for less than 5 percent of all cases of Alzheimer |
db |
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disease. |
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OMIM |
104300 |
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db |
key |
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OMIM |
104310 |
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db |
key |
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OMIM |
606889 |
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db |
key |
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OMIM |
607822 |
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db |
key |
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Orphanet |
1020 |
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db |
key |
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SNOMED CT |
10532003 |
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db |
key |
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SNOMED CT |
26929004 |
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db |
key |
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SNOMED CT |
416780008 |
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db |
key |
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SNOMED CT |
416975007 |
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db |
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SNOMED CT |
65096006 |
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| 96 |
Amelogenesis imperfecta |
https://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta |
The exact incidence of amelogenesis imperfecta is uncertain. Estimates |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AI |
db |
key |
2015-05 |
2017-12-29 |
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牙釉質發育不全症 |
vary widely, from 1 in 700 people in northern Sweden to 1 in 14,000 people in |
html:p |
Amelogenesis imperfecta is a disorder of tooth development. This condition |
ad |
autosomal dominant |
AMELX |
https://ghr.nlm.nih.gov/gene/AMELX |
congenital enamel hypoplasia |
GTR |
C0399368 |
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the United States. |
causes teeth to be unusually small teeth, discolored teeth, pitted or grooved teeth, and prone to |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
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db |
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rapid wear and breakage. Other dental abnormalities are also possible. These |
ar |
autosomal recessive |
ENAM |
https://ghr.nlm.nih.gov/gene/ENAM |
GTR |
C0399376 |
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defects, which vary among affected individuals, can affect both primary (baby) |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
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db |
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teeth and permanent (adult) teeth. |
xr |
X-linked recessive |
FAM83H |
https://ghr.nlm.nih.gov/gene/FAM83H |
GTR |
C1845052 |
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html:p |
Researchers have described at least 14 forms of amelogenesis imperfecta. These |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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types are distinguished by their specific dental abnormalities and by their |
ITGB6 |
https://ghr.nlm.nih.gov/gene/ITGB6 |
GTR |
C2673923 |
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pattern of inheritance. Additionally, amelogenesis imperfecta can occur alone |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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without any other signs and symptoms or it can occur as part of a syndrome that |
KLK4 |
https://ghr.nlm.nih.gov/gene/KLK4 |
MeSH |
D000567 |
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affects multiple parts of the body. |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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LAMB3 |
https://ghr.nlm.nih.gov/gene/LAMB3 |
OMIM |
104500 |
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related-gene |
gene-symbol |
ghr-page |
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db |
key |
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MMP20 |
https://ghr.nlm.nih.gov/gene/MMP20 |
OMIM |
130900 |
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related-gene |
gene-symbol |
ghr-page |
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db |
key |
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|
ODAPH |
https://ghr.nlm.nih.gov/gene/ODAPH |
OMIM |
204650 |
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related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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SLC24A4 |
https://ghr.nlm.nih.gov/gene/SLC24A4 |
OMIM |
301200 |
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related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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WDR72 |
https://ghr.nlm.nih.gov/gene/WDR72 |
OMIM |
612529 |
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db |
key |
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Orphanet |
88661 |
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db |
key |
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|
SNOMED CT |
234961008 |
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SNOMED CT |
78494001 |
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| 97 |
Aminoacylase 1 deficiency |
https://ghr.nlm.nih.gov/condition/aminoacylase-1-deficiency |
The prevalence of aminoacylase 1 deficiency is unknown. |
html |
inheritance-pattern |
code |
memo |
related-gene |
gene-symbol |
synonym |
db-key |
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2014-05 |
2017-12-29 |
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html:p |
Aminoacylase 1 deficiency is an inherited disorder that can cause neurological |
ar |
autosomal recessive |
ACY1 |
synonym |
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GTR |
C1835922 |
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problems; the pattern and severity of signs and symptoms vary widely among |
db-key |
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affected individuals. Individuals with this condition typically have delayed |
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MeSH |
D008661 |
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development of mental and motor skills (psychomotor delay). They can have |
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movement problems, reduced muscle tone (hypotonia), mild intellectual |
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OMIM |
609924 |
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disability, and seizures. However, some people with aminoacylase 1 deficiency |
db-key |
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have no health problems related to the condition. A key feature common to all |
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Orphanet |
137754 |
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people with aminoacylase 1 deficiency is high levels of modified protein |
db-key |
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N-acetylated amino acids, in the urine. |
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SNOMED CT |
709282004 |
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| 98 |
Amish lethal microcephaly |
https://ghr.nlm.nih.gov/condition/amish-lethal-microcephaly |
Amish lethal microcephaly occurs in approximately 1 in 500 newborns in the |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Amish microcephaly |
db |
key |
2013-07 |
2017-12-29 |
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Old Order Amish population of Pennsylvania. It has not been found outside this |
html:p |
Amish lethal microcephaly is a disorder in which infants are born with a very |
ar |
autosomal recessive |
SLC25A19 |
https://ghr.nlm.nih.gov/gene/SLC25A19 |
MCPHA |
GTR |
C1846648 |
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population. |
small head and underdeveloped brain. |
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microcephaly, Amish type |
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html:p |
Infants with Amish lethal microcephaly have a sloping forehead and an extremely |
GeneReviews |
amish-mcph |
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small head size. They may also have an unusually small lower jaw and chin |
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(micrognathia) and an enlarged liver (hepatomegaly). |
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MeSH |
D008831 |
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html:p |
Affected infants may have seizures and difficulty maintaining their body |
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temperature. Often they become very irritable starting in the second or third |
OMIM |
607196 |
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month of life. A compound called alpha-ketoglutaric acid can be detected in |
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their urine (alpha-ketoglutaric aciduria), and during episodes of viral illness |
Orphanet |
99742 |
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they tend to develop elevated levels of acid in the blood and tissues (metabolic |
db |
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acidosis). Infants with this disorder typically feed adequately but do not |
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SNOMED CT |
702437000 |
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develop skills such as purposeful movement or the ability to track faces and |
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sounds. Affected infants live only about six months. |
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| 99 |
Amyotrophic lateral sclerosis |
https://ghr.nlm.nih.gov/condition/amyotrophic-lateral-sclerosis |
About 5,000 people in the United States are diagnosed with ALS each year. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ALS |
db |
key |
2016-03 |
2017-12-29 |
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Worldwide, this disorder occurs in 2 to 5 per 100,000 individuals. Only a small |
html:p |
Amyotrophic lateral sclerosis (ALS) is a progressive disease that affects motor |
ad |
autosomal dominant |
ALS2 |
https://ghr.nlm.nih.gov/gene/ALS2 |
amyotrophic lateral sclerosis with dementia |
GTR |
C0002736 |
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percentage of cases have a known genetic cause.Among the Chamorro people of |
neurons, which are specialized nerve cells that control muscle movement. These |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Charcot disease |
db |
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Guam and people from the Kii Peninsula of Japan, ALS-PDC can be 100 times more |
nerve cells are found in the spinal cord and the brain. In ALS, motor neurons |
ar |
autosomal recessive |
ANG |
https://ghr.nlm.nih.gov/gene/ANG |
dementia with amyotrophic lateral sclerosis |
GTR |
C0543859 |
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frequent than ALS is in other populations. ALS-PDC has not been reported outside |
die (atrophy) over time, leading to muscle weakness, a loss of muscle mass, and |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Lou Gehrig disease |
db |
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of these populations. |
an inability to control movement. |
n |
not inherited |
ATXN2 |
https://ghr.nlm.nih.gov/gene/ATXN2 |
motor neuron disease, amyotrophic lateral sclerosis |
GTR |
C1836076 |
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html:p |
There are many different types of ALS; these types are distinguished by their |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
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signs and symptoms and their genetic cause or lack of clear genetic association. |
xd |
X-linked dominant |
C9orf72 |
https://ghr.nlm.nih.gov/gene/C9orf72 |
GTR |
C1837728 |
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Most people with ALS have a form of the condition that is described as |
related-gene |
gene-symbol |
ghr-page |
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Sporadic ALS |
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sporadic, which means it occurs in people with no apparent history of the |
CHCHD10 |
https://ghr.nlm.nih.gov/gene/CHCHD10 |
GTR |
C1842674 |
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disorder in their family. People with sporadic ALS usually first develop |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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features of the condition in their late fifties or early sixties. A small |
CHMP2B |
https://ghr.nlm.nih.gov/gene/CHMP2B |
GTR |
C1842675 |
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proportion of people with ALS, estimated at 5 to 10 percent, have a family |
related-gene |
gene-symbol |
ghr-page |
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key |
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familial ALS |
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history of ALS or a related condition called frontotemporal dementia (FTD), |
DCTN1 |
https://ghr.nlm.nih.gov/gene/DCTN1 |
GTR |
C1847735 |
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which is a progressive brain disorder that affects personality, behavior, and |
related-gene |
gene-symbol |
ghr-page |
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key |
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language. The signs and symptoms of familial ALS typically first appear in one's |
ERBB4 |
https://ghr.nlm.nih.gov/gene/ERBB4 |
GTR |
C1859807 |
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late forties or early fifties. Rarely, people with familial ALS develop |
related-gene |
gene-symbol |
ghr-page |
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symptoms in childhood or their teenage years. These individuals have a rare form |
FIG4 |
https://ghr.nlm.nih.gov/gene/FIG4 |
GTR |
C1862937 |
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of the disorder known as juvenile ALS. |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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html:p |
The first signs and symptoms of ALS may be so subtle that they are overlooked. |
FUS |
https://ghr.nlm.nih.gov/gene/FUS |
GTR |
C1862939 |
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The earliest symptoms include muscle twitching, cramping, stiffness, or |
related-gene |
gene-symbol |
ghr-page |
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weakness. Affected individuals may develop slurred speech (dysarthria) and, |
HNRNPA1 |
https://ghr.nlm.nih.gov/gene/HNRNPA1 |
GTR |
C1865409 |
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later, difficulty chewing or swallowing (dysphagia). Many people with ALS |
related-gene |
gene-symbol |
ghr-page |
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experience malnutrition because of reduced food intake due to dysphagia and an |
MATR3 |
https://ghr.nlm.nih.gov/gene/MATR3 |
GTR |
C1865864 |
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increase in their body's energy demands (metabolism) due to prolonged illness. |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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Muscles become weaker as the disease progresses, and arms and legs begin to look |
NEFH |
https://ghr.nlm.nih.gov/gene/NEFH |
GTR |
C2675491 |
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thinner as muscle tissue atrophies. Individuals with ALS eventually lose muscle |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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strength and the ability to walk. Affected individuals eventually become |
OPTN |
https://ghr.nlm.nih.gov/gene/OPTN |
GTR |
C2677565 |
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wheelchair-dependent and increasingly require help with personal care and other |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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activities of daily living. Over time, muscle weakness causes affected |
PFN1 |
https://ghr.nlm.nih.gov/gene/PFN1 |
GTR |
C2678468 |
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individuals to lose the use of their hands and arms. Breathing becomes difficult |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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because the muscles of the respiratory system weaken. Most people with ALS die |
PRPH |
https://ghr.nlm.nih.gov/gene/PRPH |
GTR |
C3150692 |
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from respiratory failure within 2 to 10 years after the signs and symptoms of |
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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ALS first appear; however, disease progression varies widely among affected |
SETX |
https://ghr.nlm.nih.gov/gene/SETX |
GTR |
C3151403 |
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individuals. |
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related-gene |
gene-symbol |
ghr-page |
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db |
key |
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ALS-FTD |
|
html:p |
Approximately 20 percent of individuals with ALS also develop FTD. Changes in |
SIGMAR1 |
https://ghr.nlm.nih.gov/gene/SIGMAR1 |
GTR |
C3275459 |
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personality and behavior may make it difficult for affected individuals to |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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interact with others in a socially appropriate manner. Communication skills |
SMN1 |
https://ghr.nlm.nih.gov/gene/SMN1 |
GTR |
C3280587 |
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worsen as the disease progresses. It is unclear how the development of ALS and |
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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FTD are related. Individuals who develop both conditions are diagnosed as having |
SOD1 |
https://ghr.nlm.nih.gov/gene/SOD1 |
GTR |
C3553719 |
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ALS-FTD. |
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related-gene |
gene-symbol |
ghr-page |
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db |
key |
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|
html:p |
A rare form of ALS that often runs in families is known as |
SPG11 |
https://ghr.nlm.nih.gov/gene/SPG11 |
GTR |
C3715155 |
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ALS-PDC |
|
|
ALS-parkinsonism-dementia complex (ALS-PDC). This disorder is characterized by |
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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the signs and symptoms of ALS, in addition to a pattern of movement |
SQSTM1 |
https://ghr.nlm.nih.gov/gene/SQSTM1 |
GTR |
C3715156 |
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abnormalities known as parkinsonism, and a progressive loss of intellectual |
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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function (dementia). Signs of parkinsonism include unusually slow movements |
TARDBP |
https://ghr.nlm.nih.gov/gene/TARDBP |
GTR |
C4225325 |
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(bradykinesia), stiffness, and tremors. Affected members of the same family can |
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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have different combinations of signs and symptoms. |
TBK1 |
https://ghr.nlm.nih.gov/gene/TBK1 |
GTR |
C4225326 |
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related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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TRPM7 |
https://ghr.nlm.nih.gov/gene/TRPM7 |
GeneReviews |
als-ftd |
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related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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TUBA4A |
https://ghr.nlm.nih.gov/gene/TUBA4A |
GeneReviews |
als-overview |
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related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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UBQLN2 |
https://ghr.nlm.nih.gov/gene/UBQLN2 |
GeneReviews |
iahsp |
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related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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VAPB |
https://ghr.nlm.nih.gov/gene/VAPB |
GeneReviews |
tardbp-als |
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related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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|
VCP |
https://ghr.nlm.nih.gov/gene/VCP |
ICD-10-CM |
G12.21 |
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db |
key |
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MeSH |
D000690 |
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db |
key |
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|
OMIM |
105400 |
|
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db |
key |
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|
|
OMIM |
105500 |
|
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db |
key |
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|
|
OMIM |
105550 |
|
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db |
key |
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|
|
OMIM |
205100 |
|
|
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|
db |
key |
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|
OMIM |
300857 |
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|
db |
key |
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|
OMIM |
602099 |
|
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db |
key |
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|
OMIM |
602433 |
|
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|
db |
key |
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|
OMIM |
606640 |
|
|
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db |
key |
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|
OMIM |
608030 |
|
|
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db |
key |
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|
OMIM |
608031 |
|
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db |
key |
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|
OMIM |
608627 |
|
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db |
key |
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OMIM |
611895 |
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db |
key |
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OMIM |
612069 |
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db |
key |
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OMIM |
612577 |
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db |
key |
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OMIM |
613435 |
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db |
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OMIM |
613954 |
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OMIM |
614373 |
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OMIM |
614696 |
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OMIM |
614808 |
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db |
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OMIM |
615426 |
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db |
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OMIM |
615515 |
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db |
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OMIM |
615911 |
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db |
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OMIM |
616208 |
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db |
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OMIM |
616437 |
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db |
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OMIM |
616439 |
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db |
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Orphanet |
803 |
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db |
key |
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Orphanet |
275872 |
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db |
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Orphanet |
90020 |
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db |
key |
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SNOMED CT |
230258005 |
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db |
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SNOMED CT |
86044005 |
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| 100 |
Anauxetic dysplasia |
https://ghr.nlm.nih.gov/condition/anauxetic-dysplasia |
Anauxetic dysplasia is a very rare disorder; its prevalence is unknown. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AD |
db |
key |
2017-07 |
2017-12-29 |
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html:p |
Anauxetic dysplasia is a disorder characterized by extremely short stature |
ar |
autosomal recessive |
POP1 |
https://ghr.nlm.nih.gov/gene/POP1 |
spondylometaepiphyseal dysplasia, anauxetic type |
GTR |
C1846796 |
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(dwarfism) and other skeletal abnormalities, an unusually large range of joint |
related-gene |
gene-symbol |
ghr-page |
spondylometaepiphyseal dysplasia, Menger type |
db |
key |
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movement (hypermobility), dental problems, and distinctive facial features. Mild |
RMRP |
https://ghr.nlm.nih.gov/gene/RMRP |
GeneReviews |
chh |
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intellectual disability can also occur in this disorder. |
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db |
key |
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html:p |
People with anauxetic dysplasia have dwarfism with unusually short limbs for |
MeSH |
D004392 |
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their height (disproportionate short stature) beginning before birth. |
db |
key |
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Dislocation of the bones at the top of the spine (atlantoaxial subluxation) can |
OMIM |
607095 |
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also occur in this disorder, and may cause pinching (compression) of the spinal |
db |
key |
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cord. As a result, affected individuals may experience neurological symptoms |
OMIM |
617396 |
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including pain, tingling, numbness, coordination problems, weakness, and |
db |
key |
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paralysis. In severe cases, the spinal cord compression may lead to paralysis of |
Orphanet |
93347 |
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the muscles needed for breathing, which can be life-threatening during early |
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childhood. |
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html:p |
Other skeletal abnormalities in anauxetic dysplasia include a barrel-shaped |
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chest and a rounded upper back that also curves to the side (kyphoscoliosis). |
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Without surgical correction, the kyphoscoliosis can constrict the lungs and |
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cause difficulty breathing. People with anauxetic dysplasia can also have an |
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exaggerated curvature of the lower back (hyperlordosis), dislocation of the |
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hips, and soles of the feet that are rounded outward (rocker-bottom feet). |
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html:p |
Typical facial features in anauxetic dysplasia include closely spaced eyes |
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(hypotelorism), a flat or sunken appearance of the middle of the face (midface |
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hypoplasia), an unusually large tongue (macroglossia), and a protruding chin |
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(prognathism). Affected individuals can also have fewer teeth than normal |
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(hypodontia). |
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| 101 |
Andermann syndrome |
https://ghr.nlm.nih.gov/condition/andermann-syndrome |
Andermann syndrome is most often seen in the French-Canadian population of |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ACCPN |
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2008-06 |
2017-12-29 |
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the Saguenay-Lac-St.-Jean and Charlevoix regions of northeastern Quebec. In this |
html:p |
Andermann syndrome is a disorder that damages the nerves used for muscle |
ar |
autosomal recessive |
SLC12A6 |
https://ghr.nlm.nih.gov/gene/SLC12A6 |
agenesis of corpus callosum with neuronopathy |
GTR |
C0795950 |
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population, Andermann syndrome occurs in almost 1 in 2,000 newborns. Only a few |
movement and sensation (motor and sensory neuropathy). Absence (agenesis) or |
agenesis of corpus callosum with peripheral neuropathy |
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individuals with this disorder have been identified in other regions of the |
malformation of the tissue connecting the left and right halves of the brain |
agenesis of corpus callosum with polyneuropathy |
GeneReviews |
accpn |
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world. |
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(corpus callosum) also occurs in most people with this disorder. |
Charlevoix disease |
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html:p |
People affected by Andermann syndrome have abnormal or absent reflexes |
hereditary motor and sensory neuropathy with agenesis of the corpus callosum |
MeSH |
D006211 |
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(areflexia) and weak muscle tone (hypotonia). They experience muscle wasting |
HMSN/ACC |
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(amyotrophy), severe progressive weakness and loss of sensation in the limbs, |
MeSH |
D015417 |
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and rhythmic shaking (tremors). They typically begin walking between ages 3 and |
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4 and lose this ability by their teenage years. As they get older, people with |
OMIM |
218000 |
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this disorder frequently develop joint deformities called contractures, which |
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restrict the movement of certain joints. Most affected individuals also develop |
Orphanet |
1496 |
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abnormal curvature of the spine (scoliosis), which may require surgery. |
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html:p |
Andermann syndrome also results in abnormal function of certain cranial nerves, |
SNOMED CT |
702439002 |
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which emerge directly from the brain and extend to various areas of the head and |
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neck. Cranial nerve problems may result in facial muscle weakness, drooping |
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eyelids (ptosis), and difficulty following movements with the eyes (gaze palsy). |
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html:p |
Individuals with Andermann syndrome usually have intellectual disability, which |
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may be mild to severe, and some experience seizures. They may also develop |
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psychiatric symptoms such as depression, anxiety, agitation, paranoia, and |
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hallucinations, which usually appear in adolescence. |
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html:p |
Some people with Andermann syndrome have atypical physical features such as |
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widely spaced eyes (ocular hypertelorism); a wide, short skull (brachycephaly); |
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a high arch of the hard palate at the roof of the mouth; a big toe that crosses |
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over the other toes; and partial fusion (syndactyly) of the second and third |
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toes. |
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html:p |
Andermann syndrome is associated with a shortened life expectancy, but affected |
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individuals typically live into adulthood. |
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| 102 |
Andersen-Tawil syndrome |
https://ghr.nlm.nih.gov/condition/andersen-tawil-syndrome |
Andersen-Tawil syndrome is a rare genetic disorder; its incidence is |
html |
inheritance-pattern |
code |
memo |
related-gene |
gene-symbol |
synonym |
db-key |
db |
key |
2006-04 |
2017-12-29 |
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Andersen氏综合征 |
unknown. About 100 people with this condition have been reported worldwide. |
html:p |
Anderson-Tawil syndrome is a disorder that causes episodes of muscle weakness |
ad |
autosomal dominant |
KCNJ2 |
synonym |
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GTR |
C1563715 |
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(periodic paralysis), changes in heart rhythm (arrhythmia), and developmental |
synonym |
db-key |
db |
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abnormalities. The most common changes affecting the heart are ventricular |
synonym |
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GeneReviews |
acpp |
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arrhythmia, which is a disruption in the rhythm of the heart's lower chambers, |
synonym |
db-key |
db |
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and long QT syndrome. Long QT syndrome is a heart condition that causes the |
synonym |
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MeSH |
D050030 |
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heart (cardiac) muscle to take longer than usual to recharge between beats. If |
db-key |
db |
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untreated, the irregular heartbeats can lead to discomfort, fainting (syncope), |
|
OMIM |
170390 |
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or cardiac arrest. |
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db-key |
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html:p |
Physical abnormalities associated with Andersen-Tawil syndrome typically affect |
|
Orphanet |
37553 |
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the head, face, and limbs. These features often include a very small lower jaw |
db-key |
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(micrognathia), dental abnormalities, low-set ears, widely spaced eyes, and |
|
SNOMED CT |
422348008 |
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unusual curving of the fingers or toes (clinodactyly). Some affected people |
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also have short stature and an abnormal curvature of the spine (scoliosis). |
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Andersen-Tawil syndrome Type 1 |
html:p |
Two types of Andersen-Tawil syndrome are distinguished by their genetic causes. |
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Type 1, which accounts for about 60 percent of all cases of the disorder, is |
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caused by mutations in the KCNJ2 gene. The remaining 40 percent of |
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Andersen-Tawil syndrome Type 2 |
cases are designated as type 2; the cause of these cases is unknown. |
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| 103 |
Androgen insensitivity syndrome |
https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome |
Complete androgen insensitivity syndrome affects 2 to 5 per 100,000 people |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AIS |
db |
key |
2016-11 |
2017-12-29 |
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男性女性化症 |
who are genetically male. Partial androgen insensitivity is thought to be at |
html:p |
Androgen insensitivity syndrome is a condition that affects sexual development |
xr |
X-linked recessive |
AR |
https://ghr.nlm.nih.gov/gene/AR |
androgen receptor deficiency |
GTR |
C0039585 |
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least as common as complete androgen insensitivity. Mild androgen insensitivity |
before birth and during puberty. People with this condition are genetically |
androgen resistance syndrome |
db |
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is much less common. |
male, with one X chromosome and one Y chromosome in each cell. Because their |
AR deficiency |
GTR |
CN035075 |
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bodies are unable to respond to certain male sex hormones (called androgens), |
DHTR deficiency |
db |
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they may have mostly female external sex characteristics or signs of both male |
dihydrotestosterone receptor deficiency |
GTR |
CN037063 |
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and female sexual development. |
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db |
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html:p |
Complete androgen insensitivity syndrome occurs when the body cannot use |
GeneReviews |
androgen |
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androgens at all. People with this form of the condition have the external sex |
db |
key |
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characteristics of females, but do not have a uterus and therefore do not |
ICD-10-CM |
E34.5 |
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menstruate and are unable to conceive a child (infertile). They are typically |
db |
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raised as females and have a female gender identity. Affected individuals have |
ICD-10-CM |
E34.50 |
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male internal sex organs (testes) that are undescended, which means they are |
db |
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abnormally located in the pelvis or abdomen. Undescended testes have a small |
ICD-10-CM |
E34.51 |
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chance of becoming cancerous later in life if they are not surgically removed. |
db |
key |
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People with complete androgen insensitivity syndrome also have sparse or absent |
ICD-10-CM |
E34.52 |
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hair in the pubic area and under the arms. |
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key |
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html:p |
The partial and mild forms of androgen insensitivity syndrome result when the |
MeSH |
D013734 |
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body's tissues are partially sensitive to the effects of androgens. People with |
db |
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partial androgen insensitivity (also called Reifenstein syndrome) can have |
OMIM |
300068 |
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genitalia that look typically female, genitalia that have both male and female |
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key |
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characteristics, or genitalia that look typically male. They may be raised as |
Orphanet |
754 |
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males or as females and may have a male or a female gender identity. People |
db |
key |
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with mild androgen insensitivity are born with male sex characteristics, but |
Orphanet |
90797 |
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they are often infertile and tend to experience breast enlargement at puberty. |
db |
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Orphanet |
99429 |
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db |
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SNOMED CT |
12313004 |
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db |
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SNOMED CT |
52832001 |
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db |
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SNOMED CT |
58672003 |
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| 104 |
Androgenetic alopecia |
https://ghr.nlm.nih.gov/condition/androgenetic-alopecia |
Androgenetic alopecia is a frequent cause of hair loss in both men and |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
androgenic alopecia |
db |
key |
2015-08 |
2017-12-29 |
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women. This form of hair loss affects an estimated 50 million men and 30 million |
html:p |
Androgenetic alopecia is a common form of hair loss in both men and women. In |
u |
pattern unknown |
AR |
https://ghr.nlm.nih.gov/gene/AR |
female pattern baldness |
GTR |
C0162311 |
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women in the United States. Androgenetic alopecia can start as early as a |
men, this condition is also known as male-pattern baldness. Hair is lost in a |
male pattern alopecia |
db |
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person's teens and risk increases with age; more than 50 percent of men over age |
well-defined pattern, beginning above both temples. Over time, the hairline |
male pattern baldness |
GTR |
C2676272 |
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50 have some degree of hair loss. In women, hair loss is most likely after |
recedes to form a characteristic "M" shape. Hair also thins at the crown (near |
pattern baldness |
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menopause. |
the top of the head), often progressing to partial or complete baldness. |
|
GTR |
C2678038 |
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html:p |
The pattern of hair loss in women differs from male-pattern baldness. In women, |
db |
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the hair becomes thinner all over the head, and the hairline does not recede. |
ICD-10-CM |
L64 |
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Androgenetic alopecia in women rarely leads to total baldness. |
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html:p |
Androgenetic alopecia in men has been associated with several other medical |
ICD-10-CM |
L64.8 |
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conditions including coronary heart disease and enlargement of the prostate. |
db |
key |
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Additionally, prostate cancer, disorders of insulin resistance (such as diabetes |
ICD-10-CM |
L64.9 |
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and obesity), and high blood pressure (hypertension) have been related to |
db |
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androgenetic alopecia. In women, this form of hair loss is associated with an |
MeSH |
D000505 |
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increased risk of polycystic ovary syndrome (PCOS). PCOS is characterized by a |
db |
key |
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hormonal imbalance that can lead to irregular menstruation, acne, excess hair |
OMIM |
109200 |
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elsewhere on the body (hirsutism), and weight gain. |
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key |
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OMIM |
300710 |
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db |
key |
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OMIM |
612421 |
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db |
key |
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SNOMED CT |
1108009 |
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db |
key |
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SNOMED CT |
201144006 |
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db |
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SNOMED CT |
87872006 |
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| 105 |
Anencephaly |
https://ghr.nlm.nih.gov/condition/anencephaly |
Anencephaly is one of the most common types of neural tube defect, |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
anencephalia |
db |
key |
2014-11 |
2017-12-29 |
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affecting about 1 in 1,000 pregnancies. However, most of these pregnancies end |
html:p |
Anencephaly is a condition that prevents the normal development of the brain and |
u |
pattern unknown |
MTHFR |
https://ghr.nlm.nih.gov/gene/MTHFR |
anencephalus |
GTR |
C0002902 |
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in miscarriage, so the prevalence of this condition in newborns is much lower. |
the bones of the skull. This condition results when a structure called the |
aprosencephaly |
db |
key |
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An estimated 1 in 10,000 infants in the United States is born with anencephaly. |
neural tube fails to close during the first few weeks of embryonic development. |
congenital absence of brain |
GTR |
C0027794 |
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The neural tube is a layer of cells that ultimately develops into the brain and |
db |
key |
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spinal cord. Because anencephaly is caused by abnormalities of the neural tube, |
GTR |
C1866558 |
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it is classified as a neural tube defect. |
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db |
key |
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html:p |
Because the neural tube fails to close properly, the developing brain and spinal |
ICD-10-CM |
Q00.0 |
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cord are exposed to the amniotic fluid that surrounds the fetus in the womb. |
db |
key |
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This exposure causes the nervous system tissue to break down (degenerate). As a |
MeSH |
D000757 |
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result, people with anencephaly are missing large parts of the brain called the |
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cerebrum and cerebellum. These brain regions are necessary for thinking, |
OMIM |
182940 |
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hearing, vision, emotion, and coordinating movement. The bones of the skull are |
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also missing or incompletely formed. |
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OMIM |
206500 |
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html:p |
Because these nervous system abnormalities are so severe, almost all babies with |
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anencephaly die before birth or within a few hours or days after birth. |
OMIM |
601634 |
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db |
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Orphanet |
1048 |
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SNOMED CT |
277922001 |
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SNOMED CT |
85641006 |
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SNOMED CT |
89369001 |
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| 106 |
Angelman syndrome |
https://ghr.nlm.nih.gov/condition/angelman-syndrome |
Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AS |
db |
key |
2015-05 |
2017-12-29 |
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安裘曼氏症(天使症候群) |
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html:p |
Angelman syndrome is a complex genetic disorder that primarily affects the |
n |
not inherited |
OCA2 |
https://ghr.nlm.nih.gov/gene/OCA2 |
GTR |
C0162635 |
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nervous system. Characteristic features of this condition include delayed |
related-gene |
gene-symbol |
ghr-page |
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development, intellectual disability, severe speech impairment, and problems |
UBE3A |
https://ghr.nlm.nih.gov/gene/UBE3A |
GeneReviews |
angelman |
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with movement and balance (ataxia). Most affected children also have recurrent |
related-chromosome |
name |
ghr-page |
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seizures (epilepsy) and a small head size (microcephaly). Delayed development |
15 |
https://ghr.nlm.nih.gov/chromosome/15 |
MeSH |
D017204 |
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becomes noticeable by the age of 6 to 12 months, and other common signs and |
db |
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symptoms usually appear in early childhood. |
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OMIM |
105830 |
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html:p |
Children with Angelman syndrome typically have a happy, excitable demeanor with |
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frequent smiling, laughter, and hand-flapping movements. Hyperactivity, a short |
Orphanet |
72 |
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attention span, and a fascination with water are common. Most affected children |
db |
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also have difficulty sleeping and need less sleep than usual. |
|
SNOMED CT |
76880004 |
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html:p |
With age, people with Angelman syndrome become less excitable, and the sleeping |
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problems tend to improve. However, affected individuals continue to have |
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intellectual disability, severe speech impairment, and seizures throughout their |
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lives. Adults with Angelman syndrome have distinctive facial features that may |
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be described as "coarse." Other common features include unusually fair skin with |
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light-colored hair and an abnormal side-to-side curvature of the spine |
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(scoliosis). The life expectancy of people with this condition appears to be |
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nearly normal. |
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| 107 |
Anhidrotic ectodermal dysplasia with immune deficiency |
https://ghr.nlm.nih.gov/condition/anhidrotic-ectodermal-dysplasia-with-immune-de |
The prevalence of the X-linked recessive type of EDA-ID is estimated to be |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ectodermal dysplasia, hypohidrotic, with immune deficiency |
db |
key |
2017-03 |
2017-12-29 |
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ficiency |
1 in 250,000 individuals. Only a few cases of the autosomal dominant form have |
html:p |
Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a form of |
ad |
autosomal dominant |
IKBKG |
https://ghr.nlm.nih.gov/gene/IKBKG |
EDA-ID |
GTR |
C1846006 |
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been described in the scientific literature. |
ectodermal dysplasia, which is a group of conditions characterized by abnormal |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
HED-ID |
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development of ectodermal tissues including the skin, hair, teeth, and sweat |
xr |
X-linked recessive |
NFKBIA |
https://ghr.nlm.nih.gov/gene/NFKBIA |
hyper-IgM immunodeficiency with hypohidrotic ectodermal dysplasia |
GTR |
C1846007 |
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glands. In addition, immune system function is reduced in people with EDA-ID. |
hypohidrotic ectodermal dysplasia with immune deficiency |
db |
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The signs and symptoms of EDA-ID are evident soon after birth, and due to the |
ICD-10-CM |
Q82.4 |
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severity of the immune system problems, most people with this condition survive |
db |
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only into childhood. |
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MeSH |
D053358 |
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html:p |
Skin abnormalities in children with EDA-ID include areas that are dry, wrinkled, |
db |
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or darker in color than the surrounding skin. Affected individuals tend to have |
OMIM |
300291 |
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sparse scalp and body hair (hypotrichosis). EDA-ID is also characterized by |
db |
key |
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missing teeth (hypodontia) or teeth that are small and pointed. Most children |
Orphanet |
98813 |
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with EDA-ID have a reduced ability to sweat (hypohidrosis) because they have |
db |
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fewer sweat glands than normal or their sweat glands do not function properly. |
SNOMED CT |
703525006 |
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An inability to sweat (anhidrosis) can lead to a dangerously high body |
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temperature (hyperthermia), particularly in hot weather and during exercise, |
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because the body cannot cool itself by evaporating sweat. |
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html:p |
The immune deficiency in EDA-ID varies among individuals with this condition. |
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Children with EDA-ID often produce abnormally low levels of proteins called |
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antibodies or immunoglobulins. Antibodies help protect the body against |
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infection by attaching to specific foreign particles and germs, marking them for |
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destruction. A reduction in antibodies makes it difficult for children with |
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this disorder to fight off infections. In EDA-ID, immune system cells called T |
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cells and B cells have a decreased ability to recognize and respond to foreign |
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invaders (such as bacteria, viruses, and yeast) that have sugar molecules |
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attached to their surface (glycan antigens). Other key aspects of the immune |
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system may also be impaired, leading to recurrent infections. |
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html:p |
Children with EDA-ID commonly get infections in the lungs (pneumonia), ears |
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(otitis media), sinuses (sinusitis), lymph nodes (lymphadenitis), skin, bones, |
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and gastrointestinal tract. Approximately one quarter of individuals with EDA-ID |
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have disorders involving abnormal inflammation, such as inflammatory bowel |
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disease or rheumatoid arthritis. |
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X-linked recessive EDA-ID |
html:p |
There are two forms of EDA-ID that have similar signs and symptoms and are |
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autosomal dominant EDA-ID |
distinguished by the modes of inheritance: X-linked recessive or autosomal |
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dominant. |
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| 108 |
Aniridia |
https://ghr.nlm.nih.gov/condition/aniridia |
Aniridia occurs in 1 in 50,000 to 100,000 newborns worldwide. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
absent iris |
db |
key |
2009-06 |
2017-12-29 |
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先天性虹膜缺损 |
|
html:p |
Aniridia is an eye disorder characterized by a complete or partial absence of |
ad |
autosomal dominant |
PAX6 |
https://ghr.nlm.nih.gov/gene/PAX6 |
congenital aniridia |
GTR |
C0003076 |
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無虹膜症 |
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the colored part of the eye (the iris). These iris abnormalities may cause the |
irideremia |
db |
key |
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pupils to be abnormal or misshapen. Aniridia can cause reduction in the |
|
GeneReviews |
aniridia |
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sharpness of vision (visual acuity) and increased sensitivity to light |
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key |
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(photophobia). |
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ICD-10-CM |
Q13.1 |
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html:p |
People with aniridia can also have other eye problems. Increased pressure in |
db |
key |
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the eye (glaucoma) typically appears in late childhood or early adolescence. |
MeSH |
D015783 |
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Clouding of the lens of the eye (cataracts), occur in 50 percent to 85 percent |
db |
key |
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of people with aniridia. In about 10 percent of affected people, the structures |
OMIM |
106210 |
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that carry information from the eyes to the brain (optic nerves) are |
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db |
key |
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underdeveloped. Individuals with aniridia may also have involuntary eye |
Orphanet |
77 |
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movements (nystagmus) or underdevelopment of the region at the back of the eye |
db |
key |
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responsible for sharp central vision (foveal hypoplasia). Many of these eye |
SNOMED CT |
253231007 |
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problems contribute to progressive vision loss in affected individuals. The |
db |
key |
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severity of symptoms is typically the same in both eyes. |
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SNOMED CT |
253232000 |
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html:p |
Rarely, people with aniridia have behavioral problems, developmental delay, and |
db |
key |
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problems detecting odors. |
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SNOMED CT |
69278003 |
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| 109 |
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome |
https://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-p |
AEC syndrome is a rare condition; its prevalence is unknown. All forms of |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AEC syndrome |
db |
key |
2011-06 |
2017-12-29 |
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alate-syndrome |
ectodermal dysplasia together occur in about 1 in 100,000 newborns in the United |
html:p |
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a form of |
ad |
autosomal dominant |
TP63 |
https://ghr.nlm.nih.gov/gene/TP63 |
ankyloblepharon-ectodermal defects-cleft lip and palate syndrome |
GTR |
C0406709 |
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States. |
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ectodermal dysplasia, a group of about 150 conditions characterized by abnormal |
Hay-Wells syndrome |
db |
key |
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development of ectodermal tissues including the skin, hair, nails, teeth, and |
GTR |
C1785148 |
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sweat glands. |
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html:p |
Among the most common features of AEC syndrome are missing patches of skin |
GeneReviews |
aec |
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(erosions). In affected infants, skin erosions most commonly occur on the scalp. |
db |
key |
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They tend to recur throughout childhood and into adulthood, frequently |
MeSH |
D004476 |
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affecting the scalp, neck, hands, and feet. The skin erosions range from mild to |
db |
key |
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severe and can lead to infection, scarring, and hair loss. Other ectodermal |
OMIM |
106260 |
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abnormalities in AEC syndrome include changes in skin coloring; brittle, sparse, |
db |
key |
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or missing hair; misshapen or absent fingernails and toenails; and malformed or |
OMIM |
129400 |
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missing teeth. Affected individuals also report increased sensitivity to heat |
db |
key |
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and a reduced ability to sweat. |
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Orphanet |
1071 |
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html:p |
Many infants with AEC syndrome are born with an eyelid condition known as |
db |
key |
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ankyloblepharon filiforme adnatum, in which strands of tissue partially or |
|
SNOMED CT |
55821006 |
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completely fuse the upper and lower eyelids. Most people with AEC syndrome are |
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also born with an opening in the roof of the mouth (a cleft palate), a split in |
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the lip (a cleft lip), or both. Cleft lip or cleft palate can make it difficult |
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for affected infants to suck, so these infants often have trouble feeding and do |
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not grow and gain weight at the expected rate (failure to thrive). |
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html:p |
Additional features of AEC syndrome can include limb abnormalities, most |
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commonly fused fingers and toes (syndactyly). Less often, affected individuals |
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have permanently bent fingers and toes (camptodactyly) or a deep split in the |
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hands or feet with missing fingers or toes and fusion of the remaining digits |
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(ectrodactyly). Hearing loss is common, occurring in more than 90 percent of |
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children with AEC syndrome. Some affected individuals have distinctive facial |
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features, such as small jaws that cannot open fully and a narrow space between |
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the upper lip and nose (philtrum). Other signs and symptoms can include the |
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opening of the urethra on the underside of the penis (hypospadias) in affected |
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males, digestive problems, absent tear duct openings in the eyes, and chronic |
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sinus or ear infections. |
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Rapp-Hodgkin |
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html:p |
A condition known as Rapp-Hodgkin syndrome has signs and symptoms that overlap |
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considerably with those of AEC syndrome. These two syndromes were classified as |
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separate disorders until it was discovered that they both result from mutations |
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in the same part of the same gene. Most researchers now consider Rapp-Hodgkin |
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syndrome and AEC syndrome to be part of the same disease spectrum. |
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| 110 |
Ankylosing spondylitis |
https://ghr.nlm.nih.gov/condition/ankylosing-spondylitis |
Ankylosing spondylitis is part of a group of related diseases known as |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AS |
db |
key |
2014-09 |
2017-12-29 |
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強直性脊柱炎 |
spondyloarthropathies. In the United States, spondyloarthropathies affect 3.5 |
html:p |
Ankylosing spondylitis is a form of ongoing joint inflammation (chronic |
u |
pattern unknown |
ERAP1 |
https://ghr.nlm.nih.gov/gene/ERAP1 |
Bechterew disease |
GTR |
C0038013 |
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to 13 per 1,000 people. |
inflammatory arthritis) that primarily affects the spine. This condition is |
related-gene |
gene-symbol |
ghr-page |
Marie-Struempell disease |
db |
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characterized by back pain and stiffness that typically appear in adolescence or |
HLA-B |
https://ghr.nlm.nih.gov/gene/HLA-B |
spondylarthritis ankylopoietica |
ICD-10-CM |
M08.1 |
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spondyloarthropathies. In the United States, spondyloarthropathies affect 3.5 |
related-gene |
gene-symbol |
ghr-page |
spondylitis ankylopoietica |
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to 13 per 1,000 people. |
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IL1A |
https://ghr.nlm.nih.gov/gene/IL1A |
spondylitis, ankylosing |
ICD-10-CM |
M45 |
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called ankylosis. |
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related-gene |
gene-symbol |
ghr-page |
spondyloarthritis ankylopoietica |
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html:p |
The earliest symptoms of ankylosing spondylitis result from inflammation of the |
IL23R |
https://ghr.nlm.nih.gov/gene/IL23R |
ICD-10-CM |
M45.0 |
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joints between the pelvic bones (the ilia) and the base of the spine (the |
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sacrum). These joints are called sacroiliac joints, and inflammation of these |
ICD-10-CM |
M45.1 |
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joints is known as sacroiliitis. The inflammation gradually spreads to the |
db |
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joints between the vertebrae, causing a condition called spondylitis. Ankylosing |
ICD-10-CM |
M45.2 |
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spondylitis can involve other joints as well, including the shoulders, hips, |
db |
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and, less often, the knees. As the disease progresses, it can affect the joints |
ICD-10-CM |
M45.3 |
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between the spine and ribs, restricting movement of the chest and making it |
db |
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difficult to breathe deeply. People with advanced disease are also more prone |
ICD-10-CM |
M45.4 |
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to fractures of the vertebrae. |
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db |
key |
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html:p |
Ankylosing spondylitis affects the eyes in up to 40 percent of cases, leading to |
ICD-10-CM |
M45.5 |
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episodes of eye inflammation called acute iritis. Acute iritis causes eye pain |
db |
key |
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and increased sensitivity to light (photophobia). Rarely, ankylosing spondylitis |
ICD-10-CM |
M45.6 |
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can also cause serious complications involving the heart, lungs, and nervous |
db |
key |
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system. |
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ICD-10-CM |
M45.7 |
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db |
key |
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ICD-10-CM |
M45.8 |
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db |
key |
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ICD-10-CM |
M45.9 |
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db |
key |
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MeSH |
D013167 |
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db |
key |
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OMIM |
106300 |
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db |
key |
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Orphanet |
825 |
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db |
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SNOMED CT |
9631008 |
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| 111 |
Ankyrin-B syndrome |
https://ghr.nlm.nih.gov/condition/ankyrin-b-syndrome |
Ankyrin-B syndrome is a rare disorder. Its prevalence is unknown. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
cardiac arrhythmia, ankyrin-B-related |
db |
key |
2017-03 |
2017-12-29 |
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html:p |
Ankyrin-B syndrome is associated with a variety of heart problems related to |
ad |
autosomal dominant |
ANK2 |
https://ghr.nlm.nih.gov/gene/ANK2 |
GTR |
C1970119 |
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disruption of the heart's normal rhythm (arrhythmia). Heart rhythm is controlled |
db |
key |
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by electrical signals that move through the heart in a highly coordinated way. |
GeneReviews |
rws |
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In ankyrin-B syndrome, disruption of different steps of electrical signaling can |
db |
key |
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lead to arrhythmia, and the resulting heart problems vary among affected |
MeSH |
D001145 |
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individuals. |
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html:p |
Individuals with ankyrin-B syndrome may have problems with the sinoatrial (SA) |
OMIM |
600919 |
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node, which generates the electrical impulses that start each heartbeat. If the |
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SA node is not functioning properly, the heartbeat can be too slow |
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(bradycardia). In a small number of people with ankyrin-B syndrome, the heart |
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takes longer than usual to recharge between beats, which is known as a prolonged |
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QT interval (long QT). Some affected individuals have impaired progression |
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(conduction) of electrical impulses between the chambers of the heart, which can |
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cause a problem called heart block. Other heart problems that occur in |
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ankyrin-B syndrome include irregular and uncoordinated electrical activity in |
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the heart's upper chambers (atrial fibrillation) or lower chambers (ventricular |
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fibrillation) and an abnormality called catecholaminergic polymorphic |
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ventricular tachycardia (CPVT), in which an increase in the heart rate can |
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trigger an abnormally fast and irregular heartbeat called ventricular |
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tachycardia. In people with ankyrin-B syndrome, arrhythmia can lead to fainting |
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(syncope) or cardiac arrest and sudden death. |
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html:p |
When associated with a prolonged QT interval, the condition is sometimes |
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classified as long QT syndrome 4. However, because additional heart problems can |
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result from changes in the same gene, long QT syndrome 4 is usually considered |
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part of ankyrin-B syndrome. |
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| 112 |
Anonychia congenita |
https://ghr.nlm.nih.gov/condition/anonychia-congenita |
Anonychia congenita is a rare condition; its prevalence is unknown. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
absent nails |
db |
key |
2017-05 |
2017-12-29 |
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html:p |
Anonychia congenita is a condition that affects the fingernails and toenails. |
ar |
autosomal recessive |
RSPO4 |
https://ghr.nlm.nih.gov/gene/RSPO4 |
anonychia |
GTR |
C0265998 |
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Individuals with this condition are typically missing all of their fingernails |
aplastic nails |
db |
key |
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and toenails (anonychia). This absence of nails is noticeable from birth |
congenital absence of nails |
ICD-10-CM |
Q84.3 |
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(congenital). In some cases, only part of the nail is missing (hyponychia) or |
hyponychia congenita |
db |
key |
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not all fingers and toes are affected. All of the other tissues at the tips of |
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MeSH |
D009264 |
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the fingers and toes, including structures that usually support the nail and its |
db |
key |
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growth (such as the nail bed), are normal. |
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OMIM |
206800 |
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html:p |
Individuals with anonychia congenita do not have any other health problems |
db |
key |
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related to the condition. |
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Orphanet |
79143 |
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db |
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SNOMED CT |
23610003 |
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| 113 |
Antiphospholipid syndrome |
https://ghr.nlm.nih.gov/condition/antiphospholipid-syndrome |
The exact prevalence of antiphospholipid syndrome is unknown. This |
html |
code |
memo |
synonym |
anti-phospholipid syndrome |
db-key |
key |
2017-12-29 |
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抗磷脂症候群( |
condition is thought to be fairly common, and may be responsible for up to one |
html:p |
Antiphospholipid syndrome is a disorder characterized by an increased tendency |
u |
pattern unknown |
synonym |
antiphospholipid antibody syndrome |
C0085278 |
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percent of all thromboses. It is estimated that 20 percent of individuals |
to form abnormal blood clots (thromboses) that can block blood vessels. This |
synonym |
Hughes syndrome |
db-key |
key |
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younger than age 50 who have a stroke have antiphospholipid syndrome. Ten to 15 |
clotting tendency is known as thrombophilia. In antiphospholipid syndrome, the |
D68.61 |
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percent of people with systemic lupus erythematosus have antiphospholipid |
thromboses can develop in nearly any blood vessel in the body, but most |
db-key |
key |
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syndrome. Similarly, 10 to 15 percent of women with recurrent miscarriages |
frequently occur in the vessels of the lower limbs. If a blood clot forms in the |
D016736 |
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likely have this condition. Approximately 70 percent of individuals diagnosed |
vessels in the brain, blood flow is impaired and can lead to stroke. |
db-key |
key |
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with antiphospholipid syndrome are female. |
Antiphospholipid syndrome is an autoimmune disorder. Autoimmune disorders occur |
107320 |
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when the immune system attacks the body's own tissues and organs. |
db-key |
key |
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html:p |
Women with antiphospholipid syndrome are at increased risk of complications |
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during pregnancy. These complications include pregnancy-induced high blood |
db-key |
key |
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pressure (preeclampsia), an underdeveloped placenta (placental insufficiency), |
19267009 |
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early delivery, or pregnancy loss (miscarriage). In addition, women with |
db-key |
key |
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antiphospholipid syndrome are at greater risk of having a thrombosis during |
239892009 |
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pregnancy than at other times during their lives. At birth, infants of mothers |
db-key |
key |
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with antiphospholipid syndrome may be small and underweight. |
239895006 |
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html:p |
A thrombosis or pregnancy complication is typically the first sign of |
db-key |
key |
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antiphospholipid syndrome. This condition usually appears in early to |
26843008 |
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mid-adulthood but can begin at any age. |
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html:p |
Other signs and symptoms of antiphospholipid syndrome that affect blood cells |
72161000119100 |
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and vessels include a reduced amount of cell fragments involved in blood |
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clotting called platelets (thrombocytopenia), a shortage of red blood cells |
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(anemia) due to their premature breakdown (hemolysis), and a purplish skin |
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discoloration (livedo reticularis) caused by abnormalities in the tiny blood |
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vessels of the skin. In addition, affected individuals may have open sores |
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(ulcers) on the skin, migraine headaches, heart disease, or intellectual |
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disability. Many people with antiphospholipid syndrome also have other |
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autoimmune disorders such as systemic lupus erythematosus. |
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html:p |
Rarely, people with antiphospholipid syndrome develop thromboses in multiple |
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blood vessels throughout their body. These thromboses block blood flow in |
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affected organs, which impairs their function and ultimately causes organ |
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failure. These individuals are said to have catastrophic antiphospholipid |
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syndrome (CAPS). CAPS typically affects the kidneys, lungs, brain, heart, and |
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liver, and is fatal in over half of affected individuals. Less than 1 percent of |
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individuals with antiphospholipid syndrome develop CAPS. |
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| 114 |
Apert syndrome |
https://ghr.nlm.nih.gov/condition/apert-syndrome |
Apert syndrome affects an estimated 1 in 65,000 to 88,000 newborns. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Acrocephalosyndactyly (Apert) |
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key |
2008-02 |
2017-12-29 |
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亞伯氏症 |
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Apert syndrome is a genetic disorder characterized by the premature fusion of |
ad |
autosomal dominant |
FGFR2 |
https://ghr.nlm.nih.gov/gene/FGFR2 |
GTR |
C0001193 |
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愛伯特氏症 |
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certain skull bones (craniosynostosis). This early fusion prevents the skull |
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from growing normally and affects the shape of the head and face. In addition, a |
GeneReviews |
craniosynostosis |
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varied number of fingers and toes are fused together (syndactyly). |
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html:p |
Many of the characteristic facial features of Apert syndrome result from the |
MeSH |
D000168 |
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premature fusion of the skull bones. The head is unable to grow normally, which |
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leads to a sunken appearance in the middle of the face, bulging and wide-set |
OMIM |
101200 |
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eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth |
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and other dental problems. Shallow eye sockets can cause vision problems. Early |
Orphanet |
87 |
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fusion of the skull bones also affects the development of the brain, which can |
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disrupt intellectual development. Cognitive abilities in people with Apert |
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Orphanet |
1531 |
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syndrome range from normal to mild or moderate intellectual disability. |
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html:p |
Individuals with Apert syndrome have webbed or fused fingers and toes. The |
SNOMED CT |
205258009 |
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severity of the fusion varies; at a minimum, three digits on each hand and foot |
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are fused together. In the most severe cases, all of the fingers and toes are |
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fused. Less commonly, people with this condition may have extra fingers or toes |
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(polydactyly). Additional signs and symptoms of Apert syndrome can include |
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hearing loss, unusually heavy sweating (hyperhidrosis), oily skin with severe |
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acne, patches of missing hair in the eyebrows, fusion of spinal bones in the |
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neck (cervical vertebrae), and recurrent ear infections that may be associated |
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with an opening in the roof of the mouth (a cleft palate). |
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| 115 |
Arginase deficiency |
https://ghr.nlm.nih.gov/condition/arginase-deficiency |
Arginase deficiency is a very rare disorder; it has been estimated to occur |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ARG1 deficiency |
db |
key |
2013-08 |
2017-12-29 |
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精氨酸酶缺乏症 |
once in every 300,000 to 1,000,000 individuals. |
html:p |
Arginase deficiency is an inherited disorder that causes the amino acid arginine |
ar |
autosomal recessive |
ARG1 |
https://ghr.nlm.nih.gov/gene/ARG1 |
Arginase Deficiency Disease |
GTR |
C0268548 |
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(a building block of proteins) and ammonia to accumulate gradually in the |
Argininemia |
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blood. Ammonia, which is formed when proteins are broken down in the body, is |
Hyperargininemia |
GeneReviews |
arg1 |
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toxic if levels become too high. The nervous system is especially sensitive to |
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the effects of excess ammonia. |
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GeneReviews |
ucd-overview |
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html:p |
Arginase deficiency usually becomes evident by about the age of 3. It most often |
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appears as stiffness, especially in the legs, caused by abnormal tensing of the |
ICD-10-CM |
E72.21 |
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muscles (spasticity). Other symptoms may include slower than normal growth, |
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developmental delay and eventual loss of developmental milestones, intellectual |
MeSH |
D020162 |
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disability, seizures, tremor, and difficulty with balance and coordination |
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(ataxia). Occasionally, high protein meals or stress caused by illness or |
OMIM |
207800 |
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periods without food (fasting) may cause ammonia to accumulate more quickly in |
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the blood. This rapid increase in ammonia may lead to episodes of irritability, |
Orphanet |
90 |
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refusal to eat, and vomiting. |
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html:p |
In some affected individuals, signs and symptoms of arginase deficiency may be |
SNOMED CT |
23501004 |
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less severe, and may not appear until later in life. |
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| 116 |
Arginine:glycine amidinotransferase deficiency |
https://ghr.nlm.nih.gov/condition/arginineglycine-amidinotransferase-deficiency |
The prevalence of arginine:glycine amidinotransferase deficiency is |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AGAT deficiency |
db |
key |
2015-12 |
2017-12-29 |
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unknown. The disorder has been identified in only a few families. |
html:p |
Arginine:glycine amidinotransferase deficiency is an inherited disorder that |
ar |
autosomal recessive |
GATM |
https://ghr.nlm.nih.gov/gene/GATM |
cerebral creatine deficiency syndrome 3 |
GTR |
C2675179 |
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primarily affects the brain. People with this disorder have mild to moderate |
creatine deficiency syndrome due to AGAT deficiency |
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intellectual disability and delayed speech development. Some affected |
GATM deficiency |
GeneReviews |
creatine |
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individuals develop autistic behaviors that affect communication and social |
l-arginine:glycine amidinotransferase deficiency |
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interaction. They may experience seizures, especially when they have a fever. |
l-arginine:glycine aminidotransferase deficiency |
MeSH |
D020739 |
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html:p |
Children with arginine:glycine amidinotransferase deficiency may not gain weight |
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and grow at the expected rate (failure to thrive), and have delayed development |
OMIM |
612718 |
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of motor skills such as sitting and walking. Affected individuals may also have |
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weak muscle tone and tend to tire easily. |
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Orphanet |
35704 |
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db |
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|
SNOMED CT |
702440000 |
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| 117 |
Argininosuccinic aciduria |
https://ghr.nlm.nih.gov/condition/argininosuccinic-aciduria |
Argininosuccinic aciduria occurs in approximately 1 in 70,000 newborns. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Argininosuccinate lyase deficiency |
db |
key |
2007-03 |
2017-12-29 |
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精氨基琥珀酸尿症 |
html:p |
Argininosuccinic aciduria is an inherited disorder that causes ammonia to |
ar |
autosomal recessive |
ASL |
https://ghr.nlm.nih.gov/gene/ASL |
argininosuccinic acidemia |
GTR |
C0268547 |
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accumulate in the blood. Ammonia, which is formed when proteins are broken down |
Argininosuccinicaciduria |
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in the body, is toxic if the levels become too high. The nervous system is |
argininosuccinyl-CoA lyase deficiency |
GeneReviews |
args-aciduria |
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especially sensitive to the effects of excess ammonia. |
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arginosuccinase deficiency |
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html:p |
Argininosuccinic aciduria usually becomes evident in the first few days of life. |
ASA |
GeneReviews |
ucd-overview |
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An infant with argininosuccinic aciduria may be lacking in energy (lethargic) |
ASAuria |
db |
key |
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or unwilling to eat, and have poorly controlled breathing rate or body |
ASL deficiency |
ICD-10-CM |
E72.22 |
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temperature. Some babies with this disorder experience seizures or unusual body |
db |
key |
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movements, or go into a coma. Complications from argininosuccinic aciduria may |
MeSH |
D056807 |
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include developmental delay and intellectual disability. Progressive liver |
db |
key |
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damage, skin lesions, and brittle hair may also be seen. |
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OMIM |
207900 |
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html:p |
Occasionally, an individual may inherit a mild form of the disorder in which |
db |
key |
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ammonia accumulates in the bloodstream only during periods of illness or other |
Orphanet |
23 |
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stress. |
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db |
key |
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Aristaless Related homeobox / XLAG Syndrome |
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性聯遺傳的平腦症 |
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SNOMED CT |
41013004 |
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| 118 |
Aromatase deficiency |
https://ghr.nlm.nih.gov/condition/aromatase-deficiency |
The prevalence of aromatase deficiency is unknown; approximately 20 cases |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
46,XX disorder of sex development (DSD) due to placental aromatase deficiency |
db |
key |
2014-04 |
2017-12-29 |
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芳香環轉化酶缺乏症 |
have been described in the medical literature. |
html:p |
Aromatase deficiency is a condition characterized by reduced levels of the |
ar |
autosomal recessive |
CYP19A1 |
https://ghr.nlm.nih.gov/gene/CYP19A1 |
estrogen synthetase deficiency |
GTR |
C0878680 |
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female sex hormone estrogen and increased levels of the male sex hormone |
oestrogen synthetase deficiency |
db |
key |
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testosterone. |
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placental aromatase deficiency |
MeSH |
D017588 |
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html:p |
Females with aromatase deficiency have a typical female chromosome pattern |
db |
key |
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(46,XX) but are born with external genitalia that do not appear clearly female |
OMIM |
613546 |
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or male (ambiguous genitalia). These individuals typically have normal internal |
db |
key |
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reproductive organs, but develop ovarian cysts early in childhood, which impair |
SNOMED CT |
425708006 |
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the release of egg cells from the ovaries (ovulation). In adolescence, most |
db |
key |
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affected females do not develop secondary sexual characteristics, such as breast |
SNOMED CT |
427627006 |
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growth and menstrual periods. They tend to develop acne and excessive body hair |
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growth (hirsutism). |
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html:p |
Men with this condition have a typical male chromosome pattern (46,XY) and are |
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born with male external genitalia. Some men with this condition have decreased |
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sex drive, abnormal sperm production, or testes that are small or undescended |
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(cryptorchidism). |
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html:p |
There are other features associated with aromatase deficiency that can affect |
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both males and females. Affected individuals are abnormally tall because of |
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excessive growth of long bones in the arms and legs. The abnormal bone growth |
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results in slowed mineralization of bones (delayed bone age) and thinning of the |
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bones (osteoporosis), which can lead to bone fractures with little trauma. |
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Males and females with aromatase deficiency can have abnormally high blood sugar |
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(hyperglycemia) because the body does not respond correctly to the hormone |
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insulin. In addition, they can have excessive weight gain and a fatty liver. |
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html:p |
Women who are pregnant with fetuses that have aromatase deficiency often |
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experience mild symptoms of the disorder even though they themselves do not have |
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the disorder. These women may develop hirsutism, acne, an enlarged clitoris |
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(clitoromegaly), and a deep voice. These features can appear as early as 12 |
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weeks of pregnancy and go away soon after delivery. |
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| 119 |
Aromatase excess syndrome |
https://ghr.nlm.nih.gov/condition/aromatase-excess-syndrome |
The prevalence of aromatase excess syndrome is unknown; more than 20 cases |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AEXS |
db |
key |
2014-04 |
2017-12-29 |
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have been described in the medical literature. |
html:p |
Aromatase excess syndrome is a condition characterized by elevated levels of the |
ad |
autosomal dominant |
CYP19A1 |
https://ghr.nlm.nih.gov/gene/CYP19A1 |
familial gynecomastia due to increased aromatase activity |
GTR |
C1841762 |
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female sex hormone estrogen in both males and females. Males with aromatase |
hereditary gynecomastia |
db |
key |
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excess syndrome experience breast enlargement (gynecomastia) in late childhood |
increased aromatase activity |
MeSH |
D012734 |
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or adolescence. The bones of affected males grow and develop more quickly and |
db |
key |
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stop growing sooner than usual (advanced bone age). As a result males have an |
OMIM |
139300 |
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early growth spurt, typically during late childhood, with short stature as an |
db |
key |
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adult. Affected females rarely show signs and symptoms of the condition, but |
Orphanet |
178345 |
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they may have increased breast growth (macromastia), irregular menstrual |
db |
key |
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periods, and short stature. The ability to have children (fertility) is usually |
|
SNOMED CT |
709075008 |
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normal in both males and females with aromatase excess syndrome. |
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| 120 |
Aromatic l-amino acid decarboxylase deficiency, AADC |
https://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency |
AADC deficiency is a rare disorder. Only about 100 people with this |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AADC deficiency |
db |
key |
2008-05 |
2017-12-29 |
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|
芳香族L-胺基酸類脫羧基酶缺乏症 |
condition have been described in the medical literature worldwide; about 20 |
html:p |
Aromatic l-amino acid decarboxylase (AADC) deficiency is an inherited disorder |
ar |
autosomal recessive |
DDC |
https://ghr.nlm.nih.gov/gene/DDC |
DDC deficiency |
GTR |
C1291564 |
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|
percent of these individuals are from Taiwan. |
that affects the way signals are passed between certain cells in the nervous |
deficiency of aromatic-L-amino-acid decarboxylase |
db |
key |
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system. |
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dopa decarboxylase deficiency |
MeSH |
D000592 |
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Signs and symptoms of AADC deficiency generally appear in the first year of |
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life. Affected infants may have severe developmental delay, weak muscle tone |
OMIM |
608643 |
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(hypotonia), muscle stiffness, difficulty moving, and involuntary writhing |
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movements of the limbs (athetosis). They may be lacking in energy (lethargic), |
Orphanet |
35708 |
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feed poorly, startle easily, and have sleep disturbances. People with AADC |
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deficiency may also experience episodes called oculogyric crises that involve |
SNOMED CT |
124600004 |
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abnormal rotation of the eyeballs; extreme irritability and agitation; and pain, |
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muscle spasms, and uncontrolled movements, especially of the head and neck. |
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AADC deficiency may affect the autonomic nervous system, which controls |
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involuntary body processes such as the regulation of blood pressure and body |
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temperature. Resulting signs and symptoms can include droopy eyelids (ptosis), |
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constriction of the pupils of the eyes (miosis), inappropriate or impaired |
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sweating, nasal congestion, drooling, reduced ability to control body |
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temperature, low blood pressure (hypotension), backflow of acidic stomach |
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contents into the esophagus (gastroesophageal reflux), low blood sugar |
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(hypoglycemia), fainting (syncope), and cardiac arrest. |
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html:p |
Signs and symptoms of AADC deficiency tend to worsen late in the day or when the |
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individual is tired, and improve after sleep. |
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| 121 |
Arrhythmogenic right ventricular cardiomyopathy |
https://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopath |
ARVC occurs in an estimated 1 in 1,000 to 1 in 1,250 people. This disorder |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
arrhythmogenic right ventricular cardiomyopathy-dysplasia |
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key |
2010-05 |
2017-12-29 |
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致心律失常性右室心肌病 |
y |
may be underdiagnosed because it can be difficult to detect in people with mild |
html:p |
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart |
ad |
autosomal dominant |
DSC2 |
https://ghr.nlm.nih.gov/gene/DSC2 |
arrhythmogenic right ventricular dysplasia |
GTR |
C0349788 |
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or no symptoms. |
disease that usually appears in adulthood. ARVC is a disorder of the myocardium, |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
arrhythmogenic right ventricular dysplasia/cardiomyopathy |
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which is the muscular wall of the heart. This condition causes part of the |
ar |
autosomal recessive |
DSG2 |
https://ghr.nlm.nih.gov/gene/DSG2 |
ARVC |
GTR |
C1832931 |
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myocardium to break down over time, increasing the risk of an abnormal heartbeat |
related-gene |
gene-symbol |
ghr-page |
ARVD |
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(arrhythmia) and sudden death. |
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DSP |
https://ghr.nlm.nih.gov/gene/DSP |
ARVD/C |
GTR |
C1836704 |
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html:p |
ARVC may not cause any symptoms in its early stages. However, affected |
related-gene |
gene-symbol |
ghr-page |
right ventricular dysplasia, arrhythmogenic |
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individuals may still be at risk of sudden death, especially during strenuous |
JUP |
https://ghr.nlm.nih.gov/gene/JUP |
ventricular dysplasia, right, arrhythmogenic |
GTR |
C1836906 |
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exercise. When symptoms occur, they most commonly include a sensation of |
related-gene |
gene-symbol |
ghr-page |
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fluttering or pounding in the chest (palpitations), light-headedness, and |
PKP2 |
https://ghr.nlm.nih.gov/gene/PKP2 |
GTR |
C1843896 |
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fainting (syncope). Over time, ARVC can also cause shortness of breath and |
related-gene |
gene-symbol |
ghr-page |
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abnormal swelling in the legs or abdomen. If the myocardium becomes severely |
RYR2 |
https://ghr.nlm.nih.gov/gene/RYR2 |
GTR |
C1857777 |
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damaged in the later stages of the disease, it can lead to heart failure. |
related-gene |
gene-symbol |
ghr-page |
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TGFB3 |
https://ghr.nlm.nih.gov/gene/TGFB3 |
GTR |
C1858378 |
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related-gene |
gene-symbol |
ghr-page |
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key |
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TMEM43 |
https://ghr.nlm.nih.gov/gene/TMEM43 |
GTR |
C1858379 |
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db |
key |
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GTR |
C1862511 |
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db |
key |
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GTR |
C1864850 |
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db |
key |
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GTR |
C1865881 |
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db |
key |
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GTR |
C1865882 |
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db |
key |
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GTR |
C1969081 |
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db |
key |
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GTR |
CN128708 |
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db |
key |
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GeneReviews |
arvd |
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db |
key |
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MeSH |
D019571 |
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db |
key |
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OMIM |
107970 |
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db |
key |
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OMIM |
600996 |
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db |
key |
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OMIM |
602086 |
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db |
key |
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OMIM |
602087 |
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db |
key |
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|
OMIM |
604400 |
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db |
key |
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OMIM |
604401 |
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db |
key |
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OMIM |
607450 |
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db |
key |
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OMIM |
609040 |
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db |
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OMIM |
610193 |
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db |
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OMIM |
610476 |
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db |
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OMIM |
611528 |
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db |
key |
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Orphanet |
247 |
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db |
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Orphanet |
217656 |
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db |
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SNOMED CT |
253528005 |
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db |
key |
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SNOMED CT |
281170005 |
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| 122 |
Arterial tortuosity syndrome |
https://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome |
Arterial tortuosity syndrome is a rare disorder; its prevalence is unknown. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
arterial tortuosity |
db |
key |
2015-11 |
2017-12-29 |
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About 100 cases have been reported in the medical literature. |
html:p |
Arterial tortuosity syndrome is a disorder that affects connective tissue. |
ar |
autosomal recessive |
SLC2A10 |
https://ghr.nlm.nih.gov/gene/SLC2A10 |
ATS |
GTR |
C1859726 |
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Connective tissue provides strength and flexibility to structures throughout the |
db |
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body, including blood vessels, skin, joints, and the gastrointestinal tract. |
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GeneReviews |
arterial-t |
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html:p |
As its name suggests, arterial tortuosity syndrome is characterized by blood |
db |
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vessel abnormalities, particularly abnormal twists and turns (tortuosity) of the |
MeSH |
D054079 |
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blood vessels that carry blood from the heart to the rest of the body (the |
db |
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arteries). Tortuosity arises from abnormal elongation of the arteries; since the |
OMIM |
208050 |
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end points of the arteries are fixed, the extra length twists and curves. Other |
db |
key |
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blood vessel abnormalities that may occur in this disorder include constriction |
Orphanet |
3342 |
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(stenosis) and abnormal bulging (aneurysm) of vessels, as well as small |
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clusters of enlarged blood vessels just under the skin (telangiectasia). |
|
SNOMED CT |
458432002 |
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html:p |
Complications resulting from the abnormal arteries can be life-threatening. |
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Rupture of an aneurysm or sudden tearing (dissection) of the layers in an |
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arterial wall can result in massive loss of blood from the circulatory system. |
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Blockage of blood flow to vital organs such as the heart, lungs, or brain can |
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lead to heart attacks, respiratory problems, and strokes. Stenosis of the |
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arteries forces the heart to work harder to pump blood and may lead to heart |
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failure. As a result of these complications, arterial tortuosity syndrome is |
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often fatal in childhood, although some individuals with mild cases of the |
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disorder live into adulthood. |
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html:p |
Features of arterial tortuosity syndrome outside the circulatory system are |
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caused by abnormal connective tissue in other parts of the body. These features |
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include joints that are either loose and very flexible (hypermobile) or that |
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have deformities limiting movement (contractures), and unusually soft and |
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stretchable skin. Some affected individuals have long, slender fingers and toes |
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(arachnodactyly); curvature of the spine (scoliosis); or a chest that is either |
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sunken (pectus excavatum) or protruding (pectus carinatum). They may have |
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protrusion of organs through gaps in muscles (hernias), elongation of the |
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intestines, or pouches called diverticula in the intestinal walls. |
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html:p |
People with arterial tortuosity syndrome often look older than their age and |
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have distinctive facial features including a long, narrow face with droopy |
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cheeks; eye openings that are narrowed (blepharophimosis) with outside corners |
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that point downward (downslanting palpebral fissures); a beaked nose with soft |
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cartilage; a high, arched roof of the mouth (palate); a small lower jaw |
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(micrognathia); and large ears. The cornea, which is the clear front covering of |
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the eye, may be cone-shaped and abnormally thin (keratoconus). |
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| 123 |
Arts syndrome |
https://ghr.nlm.nih.gov/condition/arts-syndrome |
Arts syndrome appears to be extremely rare. Only a few families with this |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ataxia-deafness-optic atrophy, lethal |
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2014-09 |
2017-12-29 |
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disorder have been described in the medical literature. |
html:p |
Arts syndrome is a disorder that causes serious neurological problems in males. |
xd |
X-linked dominant |
PRPS1 |
https://ghr.nlm.nih.gov/gene/PRPS1 |
ataxia, fatal X-linked, with deafness and loss of vision |
GTR |
C0796028 |
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Females can also be affected by this condition, but they typically have much |
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milder symptoms. |
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GeneReviews |
arts |
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html:p |
Boys with Arts syndrome have profound sensorineural hearing loss, which is a |
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complete or almost complete loss of hearing caused by abnormalities in the inner |
MeSH |
D009422 |
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ear. Other features of the disorder include weak muscle tone (hypotonia), |
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impaired muscle coordination (ataxia), developmental delay, and intellectual |
OMIM |
301835 |
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disability. In early childhood, affected boys develop vision loss caused by |
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degeneration of nerves that carry information from the eyes to the brain (optic |
Orphanet |
1187 |
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nerve atrophy). They also experience loss of sensation and weakness in the limbs |
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(peripheral neuropathy). |
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SNOMED CT |
702441001 |
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html:p |
Boys with Arts syndrome also usually have recurrent infections, especially |
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involving the respiratory system. Because of these infections and their |
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complications, affected boys often do not survive past early childhood. |
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html:p |
In females with Arts syndrome, hearing loss that begins in adulthood may be the |
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only symptom. |
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| 124 |
Aspartylglucosaminuria |
https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria |
Aspartylglucosaminuria is estimated to affect 1 in 18,500 people in |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AGA deficiency |
db |
key |
2008-12 |
2017-12-29 |
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Finland. This condition is less common outside of Finland, but the incidence is |
html:p |
Aspartylglucosaminuria is a condition that causes a progressive decline in |
ar |
autosomal recessive |
AGA |
https://ghr.nlm.nih.gov/gene/AGA |
aspartylglucosamidase deficiency |
GTR |
C0268225 |
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unknown. |
mental functioning. |
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Aspartylglucosaminidase deficiency |
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html:p |
Infants with aspartylglucosaminuria appear healthy at birth, and development is |
aspartylglycosaminuria |
ICD-10-CM |
E77.1 |
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typically normal throughout early childhood. The first sign of this condition, |
glycosylasparaginase deficiency |
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evident around the age of 2 or 3, is usually delayed speech. Mild intellectual |
MeSH |
D054880 |
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disability then becomes apparent, and learning occurs at a slowed pace. |
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Intellectual disability progressively worsens in adolescence. Most people with |
OMIM |
208400 |
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this disorder lose much of the speech they have learned, and affected adults |
db |
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usually have only a few words in their vocabulary. Adults with |
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Orphanet |
93 |
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aspartylglucosaminuria may develop seizures or problems with movement. |
db |
key |
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html:p |
People with this condition may also have bones that become progressively weak |
SNOMED CT |
54954004 |
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and prone to fracture (osteoporosis), an unusually large range of joint movement |
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(hypermobility), and loose skin. Affected individuals tend to have a |
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characteristic facial appearance that includes widely spaced eyes (ocular |
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hypertelorism), small ears, and full lips. The nose is short and broad and the |
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face is usually square-shaped. Children with this condition may be tall for |
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their age, but lack of a growth spurt in puberty typically causes adults to be |
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short. Affected children also tend to have frequent upper respiratory |
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infections. Individuals with aspartylglucosaminuria usually survive into |
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mid-adulthood. |
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| 125 |
Asphyxiating thoracic dystrophy |
https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy |
Asphyxiating thoracic dystrophy affects an estimated 1 in 100,000 to |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
asphyxiating thoracic chondrodystrophy |
db |
key |
2015-05 |
2017-12-29 |
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窒息性胸腔失養症 |
130,000 people. |
html:p |
Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is an inherited |
ar |
autosomal recessive |
CEP120 |
https://ghr.nlm.nih.gov/gene/CEP120 |
asphyxiating thoracic dysplasia |
GTR |
C0265275 |
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Jeune thoracic dystrophy |
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disorder of bone growth characterized by a narrow chest, short ribs, shortened |
related-gene |
gene-symbol |
ghr-page |
ATD |
db |
key |
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窒息性胸廓發育不良 |
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bones in the arms and legs, short stature, and extra fingers and toes |
CSPP1 |
https://ghr.nlm.nih.gov/gene/CSPP1 |
chondroectodermal dysplasia-like syndrome |
GTR |
C1970005 |
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(polydactyly). Additional skeletal abnormalities can include unusually shaped |
related-gene |
gene-symbol |
ghr-page |
infantile thoracic dystrophy |
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collarbones (clavicles) and pelvic bones, and and cone-shaped ends of the long |
DYNC2H1 |
https://ghr.nlm.nih.gov/gene/DYNC2H1 |
Jeune syndrome |
GTR |
C3151185 |
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bones in the arms and legs. Many infants with this condition are born with an |
related-gene |
gene-symbol |
ghr-page |
Jeune thoracic dysplasia |
db |
key |
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extremely narrow, bell-shaped chest that can restrict the growth and expansion |
IFT80 |
https://ghr.nlm.nih.gov/gene/IFT80 |
Jeune thoracic dystrophy |
GTR |
C3280598 |
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of the lungs. Life-threatening problems with breathing result, and people with |
related-gene |
gene-symbol |
ghr-page |
thoracic asphyxiant dystrophy |
db |
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asphyxiating thoracic dystrophy may live only into infancy or early childhood. |
IFT140 |
https://ghr.nlm.nih.gov/gene/IFT140 |
thoracic-pelvic-phalangeal dystrophy |
GTR |
CN119532 |
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However, in people who survive beyond the first few years, the narrow chest and |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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related breathing problems can improve with age. |
IFT172 |
https://ghr.nlm.nih.gov/gene/IFT172 |
ICD-10-CM |
Q77.2 |
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html:p |
Some people with asphyxiating thoracic dystrophy are born with less severe |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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skeletal abnormalities and have only mild breathing difficulties, such as rapid |
TTC21B |
https://ghr.nlm.nih.gov/gene/TTC21B |
MeSH |
D010009 |
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breathing or shortness of breath. These individuals may live into adolescence or |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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adulthood. After infancy, people with this condition may develop |
WDR19 |
https://ghr.nlm.nih.gov/gene/WDR19 |
OMIM |
208500 |
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life-threatening kidney (renal) abnormalities that cause the kidneys to |
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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malfunction or fail. Heart defects and a narrowing of the airway (subglottic |
WDR34 |
https://ghr.nlm.nih.gov/gene/WDR34 |
OMIM |
263520 |
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stenosis) are also possible. Other, less common features of asphyxiating |
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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thoracic dystrophy include liver disease, fluid-filled sacs (cysts) in the |
WDR35 |
https://ghr.nlm.nih.gov/gene/WDR35 |
OMIM |
266920 |
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pancreas, dental abnormalities, and an eye disease called retinal dystrophy that |
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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can lead to vision loss. |
|
|
WDR60 |
https://ghr.nlm.nih.gov/gene/WDR60 |
OMIM |
611263 |
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db |
key |
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OMIM |
613091 |
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db |
key |
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OMIM |
613819 |
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db |
key |
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OMIM |
614091 |
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db |
key |
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OMIM |
614376 |
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db |
key |
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OMIM |
615503 |
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db |
key |
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OMIM |
615630 |
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db |
key |
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OMIM |
615633 |
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db |
key |
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Orphanet |
474 |
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db |
key |
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SNOMED CT |
75049004 |
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| 126 |
Ataxia neuropathy spectrum |
https://ghr.nlm.nih.gov/condition/ataxia-neuropathy-spectrum |
The prevalence of ataxia neuropathy spectrum is unknown. |
html |
Ataxia neuropathy spectrum is part of a group of conditions called |
inheritance-pattern |
code |
memo |
related-gene |
gene-symbol |
synonym |
db-key |
db |
key |
2011-06 |
2017-12-29 |
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html:p |
the POLG-related disorders. The conditions in this group feature a range |
ad |
autosomal dominant |
POLG |
synonym |
|
GTR |
C1843851 |
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of similar signs and symptoms involving muscle-, nerve-, and brain-related |
inheritance-pattern |
code |
memo |
related-gene |
gene-symbol |
synonym |
db-key |
db |
key |
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functions. Ataxia neuropathy spectrum now includes the conditions previously |
ar |
autosomal recessive |
TWNK |
synonym |
|
GeneReviews |
alpers |
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called mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia |
synonym |
db-key |
db |
key |
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neuropathy dysarthria and ophthalmoplegia (SANDO). |
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MeSH |
D028361 |
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html:p |
As the name implies, people with ataxia neuropathy spectrum typically have |
db-key |
db |
key |
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problems with coordination and balance (ataxia) and disturbances in nerve |
|
OMIM |
607459 |
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function (neuropathy). The neuropathy can be classified as sensory, motor, or a |
db-key |
db |
key |
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combination of the two (mixed). Sensory neuropathy causes numbness, tingling, or |
|
Orphanet |
70595 |
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pain in the arms and legs, and motor neuropathy refers to disturbance in the |
db-key |
db |
key |
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nerves used for muscle movement. |
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SNOMED CT |
193165008 |
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html:p |
Most people with ataxia neuropathy spectrum also have severe brain dysfunction |
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(encephalopathy) and seizures. Some affected individuals have weakness of the |
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external muscles of the eye (ophthalmoplegia), which leads to drooping eyelids |
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(ptosis). Other signs and symptoms can include involuntary muscle twitches |
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(myoclonus), liver disease, depression, migraine headaches, or blindness. |
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| 127 |
Ataxia-pancytopenia syndrome |
https://ghr.nlm.nih.gov/condition/ataxia-pancytopenia-syndrome |
Ataxia-pancytopenia syndrome appears to be very rare. At least 25 affected |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ATXPC |
db |
key |
2017-09 |
2017-12-29 |
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individuals from four families have been described in the medical literature. |
html:p |
Ataxia-pancytopenia syndrome is a rare condition that affects the part of the |
ad |
autosomal dominant |
SAMD9L |
https://ghr.nlm.nih.gov/gene/SAMD9L |
myelocerebellar disorder |
GTR |
C1327919 |
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brain that coordinates movement (the cerebellum) and blood-forming cells in the |
db |
key |
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bone marrow. The age when signs and symptoms begin, the severity of the |
GeneReviews |
samd9l-ap |
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condition, and the rate at which it worsens all vary among affected individuals. |
db |
key |
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html:p |
People with ataxia-pancytopenia syndrome have neurological problems associated |
MeSH |
D001259 |
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with a loss of tissue (atrophy) and other changes in the cerebellum. These |
db |
key |
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problems include poor coordination and balance (ataxia), difficulty with |
MeSH |
D010198 |
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movements that involve judging distance or scale (dysmetria), uncontrollable |
db |
key |
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muscle contractions (clonus), and involuntary back-and-forth eye movements |
OMIM |
159550 |
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(nystagmus). These neurological issues worsen over time, making walking and |
db |
key |
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other movements challenging. Some affected individuals eventually require |
OMIM |
252270 |
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wheelchair assistance. |
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db |
key |
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html:p |
Ataxia-pancytopenia syndrome also causes a shortage of one or more types of |
Orphanet |
2585 |
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normal blood cells: red blood cells, white blood cells, and platelets. A |
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shortage of all three of these cell types is known as pancytopenia. Pancytopenia |
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can result in extreme tiredness (fatigue) due to low numbers of red blood cells |
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(anemia), frequent infections due to low numbers of white blood cells |
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(neutropenia), and abnormal bleeding due to low numbers of platelets |
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(thrombocytopenia). Ataxia-pancytopenia syndrome is also associated with an |
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increased risk of certain cancerous conditions of the blood, particularly |
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myelodysplastic syndrome and acute myeloid leukemia. |
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| 128 |
Ataxia-telangiectasia |
https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia |
Ataxia-telangiectasia occurs in 1 in 40,000 to 100,000 people worldwide. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
A-T |
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key |
2013-01 |
2017-12-29 |
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共濟失調微血管擴張症候群 |
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html:p |
Ataxia-telangiectasia is a rare inherited disorder that affects the nervous |
ar |
autosomal recessive |
ATM |
https://ghr.nlm.nih.gov/gene/ATM |
ataxia telangiectasia syndrome |
GTR |
C0004135 |
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system, immune system, and other body systems. This disorder is characterized |
ATM |
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by progressive difficulty with coordinating movements (ataxia) beginning in |
Louis-Bar syndrome |
GeneReviews |
ataxia-telangiectas |
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early childhood, usually before age 5. Affected children typically develop |
telangiectasia, cerebello-oculocutaneous |
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difficulty walking, problems with balance and hand coordination, involuntary |
MeSH |
D001260 |
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jerking movements (chorea), muscle twitches (myoclonus), and disturbances in |
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nerve function (neuropathy). The movement problems typically cause people to |
OMIM |
208900 |
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require wheelchair assistance by adolescence. People with this disorder also |
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have slurred speech and trouble moving their eyes to look side-to-side |
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Orphanet |
100 |
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(oculomotor apraxia). Small clusters of enlarged blood vessels called |
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telangiectases, which occur in the eyes and on the surface of the skin, are also |
SNOMED CT |
68504005 |
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characteristic of this condition. |
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html:p |
Affected individuals tend to have high amounts of a protein called |
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alpha-fetoprotein (AFP) in their blood. The level of this protein is normally |
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increased in the bloodstream of pregnant women, but it is unknown why |
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individuals with ataxia-telangiectasia have elevated AFP or what effects it has |
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in these individuals. |
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html:p |
People with ataxia-telangiectasia often have a weakened immune system, and many |
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develop chronic lung infections. They also have an increased risk of developing |
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cancer, particularly cancer of blood-forming cells (leukemia) and cancer of |
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immune system cells (lymphoma). Affected individuals are very sensitive to the |
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effects of radiation exposure, including medical x-rays. The life expectancy of |
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people with ataxia-telangiectasia varies greatly, but affected individuals |
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typically live into early adulthood. |
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| 129 |
Ataxia with oculomotor apraxia |
https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia |
Ataxia with oculomotor apraxia is a rare condition. Type 1 is a common form |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
adult onset ataxia with oculomotor apraxia |
db |
key |
2015-04 |
2017-12-29 |
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of ataxia in Portugal and Japan. Type 2 is estimated to occur in 1 in 900,000 |
html:p |
Ataxia with oculomotor apraxia is a condition characterized by progressive |
ar |
autosomal recessive |
APTX |
https://ghr.nlm.nih.gov/gene/APTX |
EAOH |
GTR |
C1853761 |
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individuals worldwide. |
problems with movement. The hallmark of this condition is difficulty |
related-gene |
gene-symbol |
ghr-page |
early-onset ataxia with ocular motor apraxia and hypoalbuminemia |
db |
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coordinating movements (ataxia), which is often the first symptom. Most affected |
PIK3R5 |
https://ghr.nlm.nih.gov/gene/PIK3R5 |
SCAN2 |
GTR |
C1859598 |
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people also have oculomotor apraxia, which makes it difficult to move their |
related-gene |
gene-symbol |
ghr-page |
SCAR1 |
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eyes side-to-side. People with oculomotor apraxia have to turn their head to see |
PNKP |
https://ghr.nlm.nih.gov/gene/PNKP |
spinocerebellar ataxia with axonal neuropathy type 2 |
GTR |
C3554690 |
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things in their side (peripheral) vision. |
related-gene |
gene-symbol |
ghr-page |
spinocerebellar ataxia, recessive, non-Friedreich type 1 |
db |
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html:p |
There are multiple types of ataxia with oculomotor apraxia. The types are very |
SETX |
https://ghr.nlm.nih.gov/gene/SETX |
GTR |
C4225397 |
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similar but are caused by mutations in different genes. The two most common |
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Type 1 |
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types (types 1 and 2) share features, in addition to ataxia and oculomotor |
GeneReviews |
aoa |
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apraxia, that include involuntary jerking movements (chorea), muscle twitches |
db |
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(myoclonus), and disturbances in nerve function (neuropathy). In type 1, ataxia |
GeneReviews |
aoa2 |
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Type 2 |
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beings around age 4; in type 2, ataxia begins around age 15. Chorea and |
db |
key |
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myoclonus tend to disappear gradually in type 1; these movement problems persist |
MeSH |
D002524 |
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throughout life in type 2. Individuals with type 1 often develop wasting |
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(atrophy) in their hands and feet, which further impairs movement. Nearly all |
OMIM |
208920 |
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individuals with ataxia with oculomotor apraxia develop neuropathy, which leads |
db |
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to absent reflexes and weakness. Neuropathy causes many individuals with this |
OMIM |
606002 |
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condition to require wheelchair assistance, typically 10 to 15 years after the |
db |
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start of movement problems. Intelligence is usually not affected by this |
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OMIM |
615217 |
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condition, but some people have intellectual disability. |
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html:p |
People with ataxia with oculomotor apraxia type 1 tend to have decreased amounts |
OMIM |
616267 |
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of a protein called albumin, which transports molecules in the blood. This |
db |
key |
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decrease in albumin likely causes an increase in the amount of cholesterol |
Orphanet |
1168 |
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circulating in the bloodstream. Increased cholesterol levels may raise a |
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person's risk of developing heart disease. People with ataxia with oculomotor |
Orphanet |
64753 |
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apraxia type 2 have increased blood cholesterol, but they have normal albumin |
db |
key |
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levels. Individuals with type 2 tend to have high amounts of a protein called |
SNOMED CT |
715366004 |
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alpha-fetoprotein (AFP) in their blood. (An increase in the level of this |
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protein is normally seen in the bloodstream of pregnant women.) Affected |
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individuals may also have high amounts of a protein called creatine |
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phosphokinase (CPK) in their blood. This protein is found mainly in muscle |
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tissue. The effect of abnormally high levels of AFP or CPK in people with ataxia |
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with oculomotor apraxia type 2 is unknown. |
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| 130 |
Ataxia with vitamin E deficiency |
https://ghr.nlm.nih.gov/condition/ataxia-with-vitamin-e-deficiency |
Ataxia with vitamin E deficiency is a rare condition; however, its |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ataxia with isolated vitamin E deficiency |
db |
key |
2015-12 |
2017-12-29 |
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prevalence is unknown. |
html:p |
Ataxia with vitamin E deficiency is a disorder that impairs the body's ability |
ar |
autosomal recessive |
TTPA |
https://ghr.nlm.nih.gov/gene/TTPA |
AVED |
GTR |
C1848533 |
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to use vitamin E obtained from the diet. Vitamin E is an antioxidant, which |
familial isolated vitamin E deficiency |
db |
key |
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means that it protects cells in the body from the damaging effects of unstable |
FIVE |
GeneReviews |
aved |
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molecules called free radicals. A shortage (deficiency) of vitamin E can lead to |
Friedreich ataxia phenotype with selective vitamin E deficiency |
db |
key |
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neurological problems, such as difficulty coordinating movements (ataxia) and |
Friedreich-like ataxia |
MeSH |
D014811 |
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speech (dysarthria), loss of reflexes in the legs (lower limb areflexia), and a |
db |
key |
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loss of sensation in the extremities (peripheral neuropathy). Some people with |
OMIM |
277460 |
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this condition have developed an eye disorder called retinitis pigmentosa that |
db |
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causes vision loss. Most people who have ataxia with vitamin E deficiency start |
SNOMED CT |
702442008 |
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to experience problems with movement between the ages of 5 and 15 years. The |
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movement problems tend to worsen with age. |
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| 131 |
Atelosteogenesis type 1 |
https://ghr.nlm.nih.gov/condition/atelosteogenesis-type-1 |
Atelosteogenesis type 1 is a rare disorder; its exact prevalence is |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AOI |
db |
key |
2011-09 |
2017-12-29 |
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畸型發育不良1xing |
unknown. Only a few dozen affected individuals have been identified. |
html:p |
Atelosteogenesis type 1 is a disorder that affects the development of bones |
ad |
autosomal dominant |
FLNB |
https://ghr.nlm.nih.gov/gene/FLNB |
atelosteogenesis type I |
GTR |
C0265283 |
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throughout the body. Affected individuals are born with inward- and |
giant cell chondrodysplasia |
db |
key |
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upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. |
spondylohumerofemoral hypoplasia |
GeneReviews |
flnb-dis |
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Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some |
db |
key |
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cases absent. As a result of the limb bone abnormalities, individuals with this |
MeSH |
D010009 |
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condition have very short arms and legs. Characteristic facial features include |
db |
key |
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a prominent forehead, wide-set eyes (hypertelorism), an upturned nose with a |
OMIM |
108720 |
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grooved tip, and a very small lower jaw and chin (micrognathia). Affected |
db |
key |
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individuals may also have an opening in the roof of the mouth (a cleft palate). |
Orphanet |
1190 |
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Males with this condition can have undescended testes. |
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db |
key |
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html:p |
Individuals with atelosteogenesis type 1 typically have an underdeveloped rib |
SNOMED CT |
43814000 |
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cage that affects the development and functioning of the lungs. As a result, |
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affected individuals are usually stillborn or die shortly after birth from |
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respiratory failure. |
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| 132 |
Atelosteogenesis type 2 |
https://ghr.nlm.nih.gov/condition/atelosteogenesis-type-2 |
Atelosteogenesis type 2 is an extremely rare genetic disorder; its |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AO2 |
db |
key |
2008-02 |
2017-12-29 |
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incidence is unknown. |
html:p |
Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. |
ar |
autosomal recessive |
SLC26A2 |
https://ghr.nlm.nih.gov/gene/SLC26A2 |
Atelosteogenesis de la Chapelle type |
GTR |
C1850554 |
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Infants born with this condition have very short arms and legs, a narrow chest, |
atelosteogenesis, type 2 |
db |
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and a prominent, rounded abdomen. This disorder is also characterized by an |
De la Chapelle dysplasia |
GeneReviews |
ao2 |
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opening in the roof of the mouth (a cleft palate), distinctive facial features, |
McAlister dysplasia |
db |
key |
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an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs |
Neonatal osseous dysplasia 1 |
MeSH |
D010009 |
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(hitchhiker thumbs). |
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db |
key |
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html:p |
The signs and symptoms of atelosteogenesis type 2 are similar to those of |
OMIM |
256050 |
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another skeletal disorder called diastrophic dysplasia; however, |
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db |
key |
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atelosteogenesis type 2 is typically more severe. As a result of serious health |
Orphanet |
56304 |
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problems, infants with this disorder are usually stillborn or die soon after |
db |
key |
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birth from respiratory failure. Some infants, however, have lived for a short |
SNOMED CT |
254055004 |
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time with intensive medical support. |
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| 133 |
Atelosteogenesis type 3 |
https://ghr.nlm.nih.gov/condition/atelosteogenesis-type-3 |
Atelosteogenesis type 3 is a rare disorder; its exact prevalence is |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AOIII |
db |
key |
2011-09 |
2017-12-29 |
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unknown. About two dozen affected individuals have been identified. |
html:p |
Atelosteogenesis type 3 is a disorder that affects the development of bones |
ad |
autosomal dominant |
FLNB |
https://ghr.nlm.nih.gov/gene/FLNB |
atelosteogenesis type III |
GTR |
C3668942 |
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throughout the body. Affected individuals are born with inward- and |
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db |
key |
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upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. |
GeneReviews |
flnb-dis |
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Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some |
db |
key |
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cases absent. As a result of the limb bone abnormalities, individuals with this |
MeSH |
D010009 |
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condition have very short arms and legs. Their hands and feet are wide, with |
db |
key |
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broad fingers and toes that may be permanently bent (camptodactyly) or fused |
OMIM |
108721 |
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together (syndactyly). Characteristic facial features include a broad forehead, |
db |
key |
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wide-set eyes (hypertelorism), and an underdeveloped nose. About half of |
Orphanet |
56305 |
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affected individuals have an opening in the roof of the mouth (a cleft palate.) |
db |
key |
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html:p |
Individuals with atelosteogenesis type 3 typically have an underdeveloped rib |
SNOMED CT |
43814000 |
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cage that affects the development and functioning of the lungs. As a result, |
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affected individuals are usually stillborn or die shortly after birth from |
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respiratory failure. Some affected individuals survive longer, usually with |
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intensive medical support. They typically experience further respiratory |
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problems as a result of weakness of the airways that can lead to partial |
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closing, short pauses in breathing (apnea), or frequent infections. People with |
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atelosteogenesis type 3 who survive past the newborn period may have learning |
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disabilities and delayed language skills, which are probably caused by low |
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levels of oxygen in the brain due to respiratory problems. As a result of their |
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orthopedic abnormalities, they also have delayed development of motor skills |
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such as standing and walking. |
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| 134 |
Atopic dermatitis |
https://ghr.nlm.nih.gov/condition/atopic-dermatitis |
Atopic dermatitis is a common disorder that affects 10 to 20 percent of |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
atopic eczema |
db |
key |
2017-10 |
2017-12-29 |
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異位性皮膚炎 |
children and 5 to 10 percent of adults. |
html:p |
Atopic dermatitis (also known as atopic eczema) is a disorder characterized by |
ad |
autosomal dominant |
CARD11 |
https://ghr.nlm.nih.gov/gene/CARD11 |
GTR |
C0011615 |
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過敏性皮膚炎或過敏性濕疹 |
inflammation of the skin (dermatitis). The condition usually begins in early |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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infancy, and it often disappears before adolescence. However, in some affected |
FLG |
https://ghr.nlm.nih.gov/gene/FLG |
GTR |
C1853965 |
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individuals the condition continues into adulthood; in others, it does not begin |
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key |
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until adulthood. Hallmarks of atopic dermatitis include dry, itchy skin and red |
GTR |
CN417134 |
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rashes that come and go. The rashes can occur on any part of the body, although |
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the pattern tends to be different at different ages. In affected infants, the |
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ICD-10-CM |
L20.9 |
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rashes commonly occur on the face, scalp, hands, and feet. In children, the |
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rashes are usually found in the bend of the elbows and knees and on the front of |
ICD-10-CM |
L20.82 |
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the neck. In adolescents and adults, the rashes typically occur on the wrists, |
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key |
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ankles, and eyelids in addition to the bend of the elbows and knees. Scratching |
ICD-10-CM |
L20.83 |
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the itchy skin can lead to oozing and crusting of the rashes and thickening and |
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hardening (lichenification) of the skin. The itchiness can be so severe as to |
ICD-10-CM |
L20.84 |
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disturb sleep and impair a person's quality of life. |
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html:p |
The word "atopic" indicates an association with allergies. While atopic |
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ICD-10-CM |
L20.89 |
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dermatitis is not always due to an allergic reaction, it is commonly associated |
db |
key |
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with other allergic disorders: up to 60 percent of people with atopic dermatitis |
MeSH |
D003876 |
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develop asthma or hay fever (allergic rhinitis) later in life, and up to 30 |
db |
key |
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percent have food allergies. Atopic dermatitis is often the beginning of a |
OMIM |
603165 |
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series of allergic disorders, referred to as the "atopic march." Development of |
db |
key |
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these disorders typically follows a pattern, beginning with atopic dermatitis, |
OMIM |
605803 |
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followed by food allergies, then hay fever, and finally asthma. However, not all |
db |
key |
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individuals with atopic dermatitis will progress through the atopic march, and |
OMIM |
617638 |
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not all individuals with one allergic disease will develop others. |
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db |
key |
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html:p |
Individuals with atopic dermatitis have an increased risk of developing other |
SNOMED CT |
24079001 |
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conditions related to inflammation, such as inflammatory bowel disease, |
db |
key |
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rheumatoid arthritis, and hair loss caused by a malfunctioning immune reaction |
SNOMED CT |
402189008 |
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(alopecia areata). They also have an increased risk of having a behavioral or |
db |
key |
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psychiatric disorder, such as attention deficit hyperactivity disorder (ADHD) or |
SNOMED CT |
402194008 |
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depression. |
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html:p |
In a particular subset of individuals with atopic dermatitis, the immune system |
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is unable to protect the body from foreign invaders such as bacteria and fungi |
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(which is known as immunodeficiency). These individuals are prone to recurrent |
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infections. Most also have other allergic disorders, such as asthma, hay fever, |
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and food allergies. |
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html:p |
Atopic dermatitis can also be a feature of separate disorders that have a number |
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of signs and symptoms, which can include skin abnormalities and |
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immunodeficiency. Some such disorders are Netherton syndrome; immune |
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dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome; and |
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severe dermatitis, multiple allergies, metabolic wasting (SAM) syndrome. |
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| 135 |
Atypical hemolytic-uremic syndrome |
https://ghr.nlm.nih.gov/condition/atypical-hemolytic-uremic-syndrome |
The incidence of atypical hemolytic-uremic syndrome is estimated to be 1 in |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
aHUS |
db |
key |
2010-06 |
2017-12-29 |
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500,000 people per year in the United States. The atypical form is probably |
html:p |
Atypical hemolytic-uremic syndrome is a disease that primarily affects kidney |
ad |
autosomal dominant |
C3 |
https://ghr.nlm.nih.gov/gene/C3 |
non-Shiga-like toxin-associated HUS |
GTR |
C2749604 |
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about 10 times less common than the typical form. |
function. This condition, which can occur at any age, causes abnormal blood |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
non-Stx-HUS |
db |
key |
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clots (thrombi) to form in small blood vessels in the kidneys. These clots can |
ar |
autosomal recessive |
CD46 |
https://ghr.nlm.nih.gov/gene/CD46 |
nonenteropathic HUS |
GTR |
C2752036 |
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cause serious medical problems if they restrict or block blood flow. Atypical |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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hemolytic-uremic syndrome is characterized by three major features related to |
CFB |
https://ghr.nlm.nih.gov/gene/CFB |
GTR |
C2752037 |
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abnormal clotting: hemolytic anemia, thrombocytopenia, and kidney failure. |
related-gene |
gene-symbol |
ghr-page |
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key |
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html:p |
Hemolytic anemia occurs when red blood cells break down (undergo hemolysis) |
CFH |
https://ghr.nlm.nih.gov/gene/CFH |
GTR |
C2752038 |
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prematurely. In atypical hemolytic-uremic syndrome, red blood cells can break |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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apart as they squeeze past clots within small blood vessels. Anemia results if |
CFHR5 |
https://ghr.nlm.nih.gov/gene/CFHR5 |
GTR |
C2752039 |
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these cells are destroyed faster than the body can replace them. This condition |
related-gene |
gene-symbol |
ghr-page |
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key |
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can lead to unusually pale skin (pallor), yellowing of the eyes and skin |
CFI |
https://ghr.nlm.nih.gov/gene/CFI |
GTR |
C2752040 |
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(jaundice), fatigue, shortness of breath, and a rapid heart rate. |
related-gene |
gene-symbol |
ghr-page |
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key |
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html:p |
Thrombocytopenia is a reduced level of circulating platelets, which are cell |
THBD |
https://ghr.nlm.nih.gov/gene/THBD |
GTR |
C2931788 |
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fragments that normally assist with blood clotting. In people with atypical |
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key |
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hemolytic-uremic syndrome, fewer platelets are available in the bloodstream |
GeneReviews |
husa |
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because a large number of platelets are used to make abnormal clots. |
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Thrombocytopenia can cause easy bruising and abnormal bleeding. |
ICD-10-CM |
D59.3 |
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html:p |
As a result of clot formation in small blood vessels, people with atypical |
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hemolytic-uremic syndrome experience kidney damage and acute kidney failure that |
MeSH |
D006463 |
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lead to end-stage renal disease (ESRD) in about half of all cases. These |
db |
key |
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life-threatening complications prevent the kidneys from filtering fluids and |
OMIM |
235400 |
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waste products from the body effectively. |
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db |
key |
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html:p |
Atypical hemolytic-uremic syndrome should be distinguished from a more common |
OMIM |
612922 |
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condition called typical hemolytic-uremic syndrome. The two disorders have |
db |
key |
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different causes and different signs and symptoms. Unlike the atypical form, the |
OMIM |
612923 |
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Typical hemolytic-uremic syndrome |
typical form is caused by infection with certain strains of Escherichia coli |
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db |
key |
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bacteria that produce toxic substances called Shiga-like toxins. The typical |
OMIM |
612924 |
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form is characterized by severe diarrhea and most often affects children younger |
db |
key |
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than 10. The typical form is less likely than the atypical form to involve |
|
OMIM |
612925 |
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recurrent attacks of kidney damage that lead to ESRD. |
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key |
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OMIM |
612926 |
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db |
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Orphanet |
2134 |
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db |
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SNOMED CT |
373422007 |
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| 136 |
Auriculo-condylar syndrome |
https://ghr.nlm.nih.gov/condition/auriculo-condylar-syndrome |
Auriculo-condylar syndrome appears to be a rare disorder. More than two |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
auriculocondylar syndrome |
db |
key |
2013-01 |
2017-12-29 |
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dozen affected individuals have been described in the medical literature. |
html:p |
Auriculo-condylar syndrome is a condition that affects facial development, |
ad |
autosomal dominant |
GNAI3 |
https://ghr.nlm.nih.gov/gene/GNAI3 |
dysgnathia complex |
GTR |
C1865295 |
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particularly development of the ears and lower jaw (mandible). |
related-gene |
gene-symbol |
ghr-page |
question-mark ear syndrome |
db |
key |
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html:p |
Most people with auriculo-condylar syndrome have malformed outer ears |
PLCB4 |
https://ghr.nlm.nih.gov/gene/PLCB4 |
GTR |
C3553404 |
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("auriculo-" refers to the ears). A hallmark of this condition is an ear |
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abnormality called a "question-mark ear" in which the ears have a distinctive |
MeSH |
D004427 |
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question-mark shape caused by a split that separates the upper part of the ear |
db |
key |
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from the earlobe. Other ear abnormalities that can occur in auriculo-condylar |
OMIM |
602483 |
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syndrome include cupped ears, ears with fewer folds and grooves than usual |
db |
key |
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(described as "simple"), narrow ear canals, small skin tags in front of or |
OMIM |
614669 |
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behind the ears, and ears that are rotated backward. Some affected individuals |
db |
key |
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also have hearing loss. |
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Orphanet |
137888 |
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html:p |
Abnormalities of the mandible are another characteristic feature of |
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auriculo-condylar syndrome. These abnormalities often include an unusually small |
SNOMED CT |
702443003 |
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chin (micrognathia) and malfunction of the temporomandibular joint (TMJ), which |
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connects the lower jaw to the skull. Problems with the TMJ affect how the upper |
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and lower jaws fit together and can make it difficult to open and close the |
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mouth. The term "condylar" in the name of the condition refers to the mandibular |
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condyle, which is the upper portion of the mandible that forms part of the TMJ. |
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html:p |
Other features of auriculo-condylar syndrome can include prominent cheeks, an |
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unusually small mouth (microstomia), differences in the size and shape of facial |
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structures between the right and left sides of the face (facial asymmetry), and |
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an opening in the roof of the mouth (cleft palate). These features vary, even |
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among affected members of the same family. |
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| 137 |
Autism spectrum disorder |
https://ghr.nlm.nih.gov/condition/autism-spectrum-disorder |
ASD is a common condition, and affects almost five times as many males as |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ASD |
db |
key |
2017-06 |
2017-12-29 |
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自閉症譜系 |
females.The number of children diagnosed with ASD has been increasing rapidly in |
html:p |
Autism spectrum disorder (ASD) is a condition that appears very early in |
u |
pattern unknown |
ADNP |
https://ghr.nlm.nih.gov/gene/ADNP |
autistic continuum |
GTR |
C1510586 |
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the past few decades. The prevalence of the disorder in the United States was |
childhood development, varies in severity, and is characterized by impaired |
related-gene |
gene-symbol |
ghr-page |
pervasive developmental disorder |
db |
key |
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estimated as 1 in 68 children in 2014, up from 1 in 88 only two years earlier. |
social skills, communication problems, and repetitive behaviors. These |
ANK2 |
https://ghr.nlm.nih.gov/gene/ANK2 |
ICD-10-CM |
F84.0 |
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In the 1980s, before the term ASD was used, the prevalence of autism was |
difficulties can interfere with affected individuals' ability to function in |
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reported to be about 1 in 2,000. However, it is unclear whether this represents |
social, academic, and employment settings. People with ASD also have an |
ARID1B |
https://ghr.nlm.nih.gov/gene/ARID1B |
MeSH |
D000067877 |
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a true increase in the prevalence of ASD or reflects changes in the way |
increased risk of psychiatric problems such as anxiety, depression, |
related-gene |
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behaviors characteristic of the disorder have been diagnosed and categorized. |
obsessive-compulsive disorder, and eating disorders. |
ASH1L |
https://ghr.nlm.nih.gov/gene/ASH1L |
OMIM |
209850 |
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From as early as 1 to 2 years of age, people with ASD have an impaired ability |
related-gene |
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to interact with other people; they are often more comfortable dealing with |
ASXL3 |
https://ghr.nlm.nih.gov/gene/ASXL3 |
SNOMED CT |
408856003 |
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objects. Affected individuals have difficulty understanding and using non-verbal |
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gene-symbol |
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social cues such as eye contact, facial expressions, gestures, and body |
CACNA1H |
https://ghr.nlm.nih.gov/gene/CACNA1H |
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language. Inability to recognize and use these cues makes it hard for affected |
related-gene |
gene-symbol |
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individuals to understand the feelings of others or communicate their own |
CHD2 |
https://ghr.nlm.nih.gov/gene/CHD2 |
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feelings appropriately. Behavioral signs of ASD, such as reduced eye contact and |
related-gene |
gene-symbol |
ghr-page |
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social interaction, can sometimes be detected before age 2. However, the |
CHD8 |
https://ghr.nlm.nih.gov/gene/CHD8 |
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condition is usually diagnosed between ages 2 and 4, when more advanced |
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gene-symbol |
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communication and social skills, such as learning to play with others, typically |
CNTN4 |
https://ghr.nlm.nih.gov/gene/CNTN4 |
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begin to develop. |
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html:p |
Repetitive behaviors in ASD can include simple actions such as rocking, |
CNTNAP2 |
https://ghr.nlm.nih.gov/gene/CNTNAP2 |
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hand-flapping, or repetition of words or noises (echolalia). Affected |
related-gene |
gene-symbol |
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individuals often dwell on or repeatedly express particular thoughts; this |
CTNND2 |
https://ghr.nlm.nih.gov/gene/CTNND2 |
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behavior is called perseveration. People with ASD tend to be rigid about their |
related-gene |
gene-symbol |
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established routines and may strongly resist disruptions such as changes in |
DSCAM |
https://ghr.nlm.nih.gov/gene/DSCAM |
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schedule. They may also have difficulty tolerating sensory stimuli such as loud |
related-gene |
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noises or bright lights. |
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DYRK1A |
https://ghr.nlm.nih.gov/gene/DYRK1A |
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html:p |
While social and communication difficulties and unusual behaviors define ASD, |
related-gene |
gene-symbol |
ghr-page |
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affected individuals can have a wide range of intellectual abilities and |
GABRB3 |
https://ghr.nlm.nih.gov/gene/GABRB3 |
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language skills. A majority of people with ASD have mild to moderate |
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gene-symbol |
ghr-page |
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intellectual disability, while others have average to above-average |
GRIN2B |
https://ghr.nlm.nih.gov/gene/GRIN2B |
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intelligence. Some have particular cognitive abilities that greatly surpass |
related-gene |
gene-symbol |
ghr-page |
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their overall level of functioning, often in areas such as music, mathematics, |
KATNAL2 |
https://ghr.nlm.nih.gov/gene/KATNAL2 |
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or memory. |
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html:p |
Some people with ASD do not speak at all, while others use language fluently. |
KDM5B |
https://ghr.nlm.nih.gov/gene/KDM5B |
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However, fluent speakers with ASD often have problems associated with verbal |
related-gene |
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communication. They might speak in a monotone voice, have unusual vocal |
MECP2 |
https://ghr.nlm.nih.gov/gene/MECP2 |
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mannerisms, or choose unusual topics of conversation. |
related-gene |
gene-symbol |
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html:p |
Several diagnoses that used to be classified as separate conditions are now |
MYT1L |
https://ghr.nlm.nih.gov/gene/MYT1L |
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grouped together under the diagnosis of ASD. For example, autistic disorder was |
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a term that was used when affected individuals had limited or absent verbal |
NLGN3 |
https://ghr.nlm.nih.gov/gene/NLGN3 |
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communication, often in combination with intellectual disability. By contrast, |
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Asperger syndrome was a diagnosis formerly applied to affected individuals of |
NRXN1 |
https://ghr.nlm.nih.gov/gene/NRXN1 |
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average or above-average intelligence who were not delayed in their language |
related-gene |
gene-symbol |
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development. The broader diagnosis of ASD was established because many affected |
POGZ |
https://ghr.nlm.nih.gov/gene/POGZ |
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individuals fall outside of the strict definitions of the narrower diagnoses, |
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and their intellectual and communication abilities may change over time. |
PTCHD1 |
https://ghr.nlm.nih.gov/gene/PTCHD1 |
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However, some individuals who were previously diagnosed with one of the subtypes |
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now do not meet all the criteria of the new umbrella diagnosis. |
PTEN |
https://ghr.nlm.nih.gov/gene/PTEN |
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related-gene |
gene-symbol |
ghr-page |
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RELN |
https://ghr.nlm.nih.gov/gene/RELN |
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related-gene |
gene-symbol |
ghr-page |
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SCN2A |
https://ghr.nlm.nih.gov/gene/SCN2A |
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related-gene |
gene-symbol |
ghr-page |
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SHANK2 |
https://ghr.nlm.nih.gov/gene/SHANK2 |
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related-gene |
gene-symbol |
ghr-page |
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SHANK3 |
https://ghr.nlm.nih.gov/gene/SHANK3 |
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related-gene |
gene-symbol |
ghr-page |
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SYNGAP1 |
https://ghr.nlm.nih.gov/gene/SYNGAP1 |
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related-gene |
gene-symbol |
ghr-page |
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TBR1 |
https://ghr.nlm.nih.gov/gene/TBR1 |
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| 138 |
Autoimmune Addison disease |
https://ghr.nlm.nih.gov/condition/autoimmune-addison-disease |
Addison disease affects approximately 11 to 14 in 100,000 people of |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
autoimmune Addison's disease |
db |
key |
2017-01 |
2017-12-29 |
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European descent. The autoimmune form of the disorder is the most common form in |
html:p |
Autoimmune Addison disease affects the function of the adrenal glands, which are |
u |
pattern unknown |
CIITA |
https://ghr.nlm.nih.gov/gene/CIITA |
autoimmune adrenalitis |
GTR |
C1868690 |
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developed countries, accounting for up to 90 percent of cases. |
small hormone-producing glands located on top of each kidney. It is classified |
related-gene |
gene-symbol |
ghr-page |
classic Addison disease |
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as an autoimmune disorder because it results from a malfunctioning immune system |
CTLA4 |
https://ghr.nlm.nih.gov/gene/CTLA4 |
primary Addison disease |
ICD-10-CM |
E27.1 |
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that attacks the adrenal glands. As a result, the production of several |
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hormones is disrupted, which affects many body systems. |
CYP27B1 |
https://ghr.nlm.nih.gov/gene/CYP27B1 |
ICD-10-CM |
E27.2 |
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html:p |
The signs and symptoms of autoimmune Addison disease can begin at any time, |
related-gene |
gene-symbol |
ghr-page |
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although they most commonly begin between ages 30 and 50. Common features of |
HLA-DQA1 |
https://ghr.nlm.nih.gov/gene/HLA-DQA1 |
MeSH |
D000224 |
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this condition include extreme tiredness (fatigue), nausea, decreased appetite, |
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gene-symbol |
ghr-page |
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and weight loss. In addition, many affected individuals have low blood pressure |
HLA-DQB1 |
https://ghr.nlm.nih.gov/gene/HLA-DQB1 |
Orphanet |
85138 |
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(hypotension), which can lead to dizziness when standing up quickly; muscle |
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cramps; and a craving for salty foods. A characteristic feature of autoimmune |
HLA-DRB1 |
https://ghr.nlm.nih.gov/gene/HLA-DRB1 |
SNOMED CT |
363732003 |
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Addison disease is abnormally dark areas of skin (hyperpigmentation), especially |
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gene-symbol |
ghr-page |
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in regions that experience a lot of friction, such as the armpits, elbows, |
MICA |
https://ghr.nlm.nih.gov/gene/MICA |
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knuckles, and palm creases. The lips and the inside lining of the mouth can also |
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gene-symbol |
ghr-page |
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be unusually dark. Because of an imbalance of hormones involved in development |
NLRP1 |
https://ghr.nlm.nih.gov/gene/NLRP1 |
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of sexual characteristics, women with this condition may lose underarm and |
related-gene |
gene-symbol |
ghr-page |
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pubic hair. |
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PTPN22 |
https://ghr.nlm.nih.gov/gene/PTPN22 |
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html:p |
Other signs and symptoms of autoimmune Addison disease include low levels of |
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sugar (hypoglycemia) and sodium (hyponatremia) and high levels of potassium |
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(hyperkalemia) in the blood. Affected individuals may also have a shortage of |
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red blood cells (anemia) and an increase in the number of white blood cells |
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(lymphocytosis), particularly those known as eosinophils (eosinophilia). |
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html:p |
Autoimmune Addison disease can lead to a life-threatening adrenal crisis, |
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characterized by vomiting, abdominal pain, back or leg cramps, and severe |
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hypotension leading to shock. The adrenal crisis is often triggered by a |
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stressor, such as surgery, trauma, or infection. |
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html:p |
Individuals with autoimmune Addison disease or their family members can have |
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another autoimmune disorder, most commonly autoimmune thyroid disease or type 1 |
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diabetes. |
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| 139 |
Autoimmune lymphoproliferative syndrome |
https://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome |
ALPS is a rare disorder; its prevalence is unknown. More than 200 affected |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ALPS |
db |
key |
2014-07 |
2017-12-29 |
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individuals have been identified worldwide. |
html:p |
Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which |
ad |
autosomal dominant |
CASP8 |
https://ghr.nlm.nih.gov/gene/CASP8 |
Canale-Smith syndrome |
GTR |
C1328840 |
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the body cannot properly regulate the number of immune system cells |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
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(lymphocytes). ALPS is characterized by the production of an abnormally large |
ar |
autosomal recessive |
CASP10 |
https://ghr.nlm.nih.gov/gene/CASP10 |
GTR |
C1858968 |
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number of lymphocytes (lymphoproliferation). Accumulation of excess lymphocytes |
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gene-symbol |
ghr-page |
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results in enlargement of the lymph nodes (lymphadenopathy), the liver |
FAS |
https://ghr.nlm.nih.gov/gene/FAS |
GTR |
C1866119 |
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(hepatomegaly), and the spleen (splenomegaly). |
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gene-symbol |
ghr-page |
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html:p |
People with ALPS have an increased risk of developing cancer of the immune |
FASLG |
https://ghr.nlm.nih.gov/gene/FASLG |
GTR |
C1866120 |
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system cells (lymphoma) and may also be at increased risk of developing other |
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cancers. |
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KRAS |
https://ghr.nlm.nih.gov/gene/KRAS |
GTR |
C1866121 |
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html:p |
Autoimmune disorders are also common in ALPS. Autoimmune disorders occur when |
related-gene |
gene-symbol |
ghr-page |
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the immune system malfunctions and attacks the body's own tissues and organs. |
NRAS |
https://ghr.nlm.nih.gov/gene/NRAS |
GTR |
C2674723 |
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Most of the autoimmune disorders associated with ALPS target and damage blood |
db |
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cells. For example, the immune system may attack red blood cells (autoimmune |
GeneReviews |
alps |
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hemolytic anemia), white blood cells (autoimmune neutropenia), or platelets |
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(autoimmune thrombocytopenia). Less commonly, autoimmune disorders that affect |
ICD-10-CM |
D89.82 |
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other organs and tissues occur in people with ALPS. These disorders can damage |
db |
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the kidneys (glomerulonephritis), liver (autoimmune hepatitis), eyes (uveitis), |
MeSH |
D056735 |
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nerves (Guillain-Barre syndrome), or the connective tissues (systemic lupus |
db |
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erythematosus) that provide strength and flexibility to structures throughout |
OMIM |
601859 |
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the body. |
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db |
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html:p |
Skin problems, usually rashes or hives (urticaria), can occur in ALPS. |
OMIM |
603909 |
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Occasionally, affected individuals develop hardened skin with painful lumps or |
db |
key |
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patches (panniculitis). Other rare signs and symptoms of ALPS include joint |
OMIM |
607271 |
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inflammation (arthritis), inflammation of blood vessels (vasculitis), mouth |
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sores (oral ulcers), or an early loss of ovarian function (premature ovarian |
OMIM |
614470 |
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failure) may also occur in this disorder. Affected individuals can also develop |
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neurological damage (organic brain syndrome) with symptoms that may include |
SNOMED CT |
702444009 |
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headaches, seizures, or a decline in intellectual functions (dementia). |
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html:p |
ALPS can have different patterns of signs and symptoms, which are sometimes |
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considered separate forms of the disorder. In the most common form, |
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lymphoproliferation generally becomes apparent during childhood. Enlargement of |
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the lymph nodes and spleen frequently occur in affected individuals. Autoimmune |
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disorders typically develop several years later, most frequently as a |
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combination of hemolytic anemia and thrombocytopenia, also called Evans |
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syndrome. People with this classic form of ALPS have a greatly increased risk of |
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developing lymphoma compared with the general population. |
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html:p |
Other types of ALPS are very rare. In some affected individuals, severe |
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lymphoproliferation begins around the time of birth, and autoimmune disorders |
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and lymphoma develop at an early age. People with this pattern of signs and |
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symptoms generally do not live beyond childhood. Another form of ALPS involves |
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lymphoproliferation and the tendency to develop systemic lupus erythematosus. |
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Individuals with this form of the disorder do not have an enlarged spleen. |
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html:p |
Some people have signs and symptoms that resemble those of ALPS, but the |
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specific pattern of these signs and symptoms or the genetic cause may be |
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different than in other forms. Researchers disagree whether individuals with |
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these non-classic forms should be considered to have ALPS or a separate |
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condition. |
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| 140 |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy |
https://ghr.nlm.nih.gov/condition/autoimmune-polyendocrinopathy-candidiasis-ecto |
APECED occurs in about 1 in 90,000 to 200,000 people in most populations |
html |
inheritance-pattern |
code |
memo |
related-gene |
gene-symbol |
synonym |
db-key |
db |
key |
2016-10 |
2017-12-29 |
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dermal-dystrophy |
studied, which have been mainly in Europe. This condition occurs more frequently |
html:p |
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an |
ar |
autosomal recessive |
AIRE |
synonym |
|
GTR |
C0085859 |
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in certain populations, affecting about 1 in 9,000 to 25,000 people among |
inherited condition that affects many of the body's organs. It is one of many |
synonym |
db-key |
db |
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Iranian Jews, Sardinians, and Finns. |
autoimmune diseases, which are disorders that occur when the immune system |
synonym |
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GTR |
C1855869 |
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These features occur more |
malfunctions and attacks the body's own tissues and organs by mistake. |
synonym |
db-key |
db |
key |
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often in North American populations than in European populations. Rashes that |
html:p |
In most cases, the signs and symptoms of APECED begin in childhood or |
synonym |
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GTR |
C2749602 |
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adolescence. This condition commonly involves three characteristic features: |
synonym |
db-key |
db |
key |
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chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenal gland |
synonym |
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ICD-10-CM |
E31.0 |
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insufficiency. Affected individuals typically have at least two of these |
synonym |
db-key |
db |
key |
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features, and many have all three. |
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synonym |
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MeSH |
D016884 |
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html:p |
CMC is a tendency to develop infections of the skin, the nails, and the |
db-key |
db |
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moist lining of body cavities (mucous membranes) caused by a type of fungus called |
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OMIM |
240300 |
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Candida. These infections, which are commonly known as yeast infections, |
db-key |
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are chronic, which means they recur and can last a long time. CMC is |
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Orphanet |
3453 |
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usually the first of the three characteristic features of APECED to become |
db-key |
db |
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apparent in people with this disorder. Almost all affected individuals develop |
|
SNOMED CT |
11244009 |
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infections of the oral cavity (known as thrush). Infections of the tube that carries |
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food from the mouth to the stomach (the esophagus) are also common, while the skin and nails are affected less often. In women, vaginal infections frequently occur. |
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html:p |
Other features of APECED result from the body's immune system attacking the |
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network of hormone-producing glands (the endocrine system). The second |
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characteristic feature of the disorder is hypoparathyroidism, which is a |
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malfunction of the parathyroid glands. These glands secrete a hormone that |
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regulates the body's use of calcium and phosphorus. Damage to the parathyroid |
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glands leads to reduced parathyroid hormone production (hypoparathyroidism). |
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Hypoparathyroidism can cause a tingling sensation in the lips, fingers, and |
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toes; muscle pain and cramping; weakness; and fatigue. |
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html:p |
Damage to the small hormone-producing glands on top of each kidney (adrenal |
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glands) results in a third major feature of APECED, adrenal gland insufficiency |
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(Addison disease). Reduced hormone production by the adrenal glands leads to |
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signs and symptoms that can include fatigue, muscle weakness, loss of appetite, |
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weight loss, low blood pressure, and changes in skin coloring. Other endocrine |
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problems that can occur in APECED include type 1 diabetes resulting from |
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impaired production of the hormone insulin; a shortage of growth hormone leading |
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to short stature; problems affecting the internal reproductive organs (ovaries |
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or testes) that can cause inability to conceive children (infertility); and |
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dysfunction of the thyroid gland (a butterfly-shaped tissue in the lower neck), |
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which can result in many symptoms including weight gain and fatigue. |
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html:p |
Autoimmune problems affecting non-endocrine tissues can lead to a variety of |
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additional signs and symptoms in people with APECED. These features occur more |
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often in North American populations than in European populations. Rashes that |
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resemble hives (urticarial eruptions) are common and often occur in infancy and |
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early childhood. Other early signs and symptoms may include thin enamel on the |
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teeth (enamel hypoplasia) and chronic diarrhea or constipation associated with |
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difficulty in absorbing nutrients from food. Additional features that occur in |
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people with APECED, many of which can lead to permanent organ and tissue damage |
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if left untreated, include stomach irritation (gastritis), liver inflammation |
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(hepatitis), lung irritation (pneumonitis), dry mouth and dry eyes (Sjogren-like |
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syndrome), inflammation of the eyes (keratitis), kidney problems (nephritis), |
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vitamin B12 deficiency, hair loss (alopecia), loss of skin color in blotches |
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(vitiligo), high blood pressure (hypertension), or a small (atrophic) or absent |
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Of spleen (asplenia). |
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| 141 |
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy |
https://ghr.nlm.nih.gov/condition/autosomal-dominant-cerebellar-ataxia-deafness- |
The prevalence of ADCADN is unknown. At least 24 affected individuals have |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ADCA-DN syndrome |
db |
key |
2017-07 |
2017-12-29 |
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and-narcolepsy |
been described in the medical literature. |
html:p |
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCADN) is a |
ad |
autosomal dominant |
DNMT1 |
https://ghr.nlm.nih.gov/gene/DNMT1 |
ADCADN |
GTR |
C1858804 |
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nervous system disorder with signs and symptoms that usually begin in |
autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome |
db |
key |
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mid-adulthood and gradually get worse. |
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cerebellar ataxia, deafness, and narcolepsy, autosomal dominant |
GeneReviews |
ataxias |
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html:p |
People with ADCADN have difficulty coordinating movements (ataxia) and mild to |
db |
key |
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moderate hearing loss caused by abnormalities of the inner ear (sensorineural |
MeSH |
D002524 |
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deafness). Most have excessive daytime sleepiness (narcolepsy). Narcolepsy is |
db |
key |
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typically accompanied by cataplexy, which is a sudden brief loss of muscle tone |
OMIM |
604121 |
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in response to strong emotion (such as excitement, surprise, or anger). These |
db |
key |
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episodes of muscle weakness can cause an affected person to slump over or fall, |
Orphanet |
314404 |
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which occasionally leads to injury. These characteristic signs and symptoms of |
db |
key |
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ADCADN typically begin in a person's thirties. |
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SNOMED CT |
722293005 |
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html:p |
Eventually, people with ADCADN also experience a decline of intellectual |
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function (dementia). The cognitive problems often begin with impairment of |
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executive function, which is the ability to plan and implement actions and |
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develop problem-solving strategies. Other features that can occur as the |
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condition worsens include degeneration of the nerves that carry information from |
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the eyes to the brain (optic atrophy); clouding of the lenses of the eyes |
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(cataracts); numbness, tingling, or pain in the arms and legs (sensory |
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neuropathy); puffiness or swelling (lymphedema) of the limbs; an inability to |
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control the bowels or the flow of urine (incontinence); depression; |
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uncontrollable crying or laughing (pseudobulbar signs); or a distorted view of |
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reality (psychosis). Affected individuals usually survive into their forties or |
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fifties. |
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| 142 |
Autosomal dominant congenital stationary night blindness |
https://ghr.nlm.nih.gov/condition/autosomal-dominant-congenital-stationary-night-blindness |
Autosomal dominant congenital stationary night blindness is likely a rare |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
adCSNB |
db |
key |
2013-11 |
2017-12-29 |
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-blindness |
disease; however, its prevalence is unknown. |
html:p |
Autosomal dominant congenital stationary night blindness is a disorder of the |
ad |
autosomal dominant |
GNAT1 |
https://ghr.nlm.nih.gov/gene/GNAT1 |
CSNBAD |
GTR |
C0339535 |
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retina, which is the specialized tissue at the back of the eye that detects |
related-gene |
gene-symbol |
ghr-page |
night blindness, congenital stationary, autosomal dominant |
db |
key |
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light and color. People with this condition typically have difficulty seeing and |
PDE6B |
https://ghr.nlm.nih.gov/gene/PDE6B |
ICD-10-CM |
H53.63 |
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distinguishing objects in low light (night blindness). For example, they are |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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not able to identify road signs at night and some people cannot see stars in the |
RHO |
https://ghr.nlm.nih.gov/gene/RHO |
MeSH |
D009755 |
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night sky. Affected individuals have normal daytime vision and typically do not |
db |
key |
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have other vision problems related to this disorder. |
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OMIM |
163500 |
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html:p |
The night blindness associated with this condition is congenital, which means it |
db |
key |
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is present from birth. This vision impairment tends to remain stable |
OMIM |
610444 |
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(stationary); it does not worsen over time. |
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db |
key |
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OMIM |
610445 |
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db |
key |
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Orphanet |
215 |
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db |
key |
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SNOMED CT |
232061009 |
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| 143 |
Autosomal dominant hyper-IgE syndrome |
https://ghr.nlm.nih.gov/condition/autosomal-dominant-hyper-ige-syndrome |
This condition is rare, affecting fewer than 1 per million people. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AD-HIES |
db |
key |
2015-10 |
2017-12-29 |
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先天性高免疫球蛋白 E综合症 |
html:p |
Autosomal dominant hyper-IgE syndrome (AD-HIES), also known as Job syndrome, is |
ad |
autosomal dominant |
STAT3 |
https://ghr.nlm.nih.gov/gene/STAT3 |
autosomal dominant HIES |
GTR |
C0022398 |
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a condition that affects several body systems, particularly the immune system. |
autosomal dominant hyper-IgE recurrent infection syndrome |
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Recurrent infections are common in people with this condition. Affected |
autosomal dominant hyperimmunoglobulin E recurrent infection syndrome |
GeneReviews |
higes |
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individuals tend to have frequent bouts of pneumonia, which are caused by |
autosomal dominant Job syndrome |
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certain kinds of bacteria that infect the lungs and cause inflammation. These |
Buckley syndrome |
ICD-10-CM |
D82.4 |
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infections often result in the formation of air-filled cysts (pneumatoceles) in |
Job-Buckley syndrome |
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the lungs. Recurrent skin infections and an inflammatory skin disorder called |
Job syndrome |
MeSH |
D007589 |
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eczema are also very common in AD-HIES. These skin problems cause rashes, |
Job's Syndrome |
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blisters, accumulations of pus (abscesses), open sores, and scaling. |
STAT3 deficiency |
OMIM |
147060 |
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html:p |
AD-HIES is characterized by abnormally high levels of an immune system protein |
STAT3-deficient hyper IgE syndrome |
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called immunoglobulin E (IgE) in the blood. IgE normally triggers an immune |
Orphanet |
2314 |
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response against foreign invaders in the body, particularly parasitic worms, and |
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plays a role in allergies. It is unclear why people with AD-HIES have such high |
SNOMED CT |
50926003 |
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levels of IgE. |
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html:p |
AD-HIES also affects other parts of the body, including the bones and teeth. |
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Many people with AD-HIES have skeletal abnormalities such as an unusually large |
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range of joint movement (hyperextensibility), an abnormal curvature of the spine |
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(scoliosis), reduced bone density (osteopenia), and a tendency for bones to |
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fracture easily. Dental abnormalities are also common in this condition. The |
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primary (baby) teeth do not fall out at the usual time during childhood but are |
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retained as the adult teeth grow in. Other signs and symptoms of AD-HIES can |
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include abnormalities of the arteries that supply blood to the heart muscle |
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(coronary arteries), distinctive facial features, and structural abnormalities |
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of the brain, which do not affect a person's intelligence. |
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| 144 |
Autosomal dominant hypocalcemia |
https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia |
The prevalence of autosomal dominant hypocalcemia is unknown. The condition |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ADH |
db |
key |
2015-02 |
2017-12-29 |
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先天性低血鈣症 |
is likely underdiagnosed because it often causes no signs or symptoms. |
html:p |
Autosomal dominant hypocalcemia is characterized by low levels of calcium in the |
ad |
autosomal dominant |
CASR |
https://ghr.nlm.nih.gov/gene/CASR |
autosomal dominant hypoparathyroidism |
GTR |
CN228164 |
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blood (hypocalcemia). Affected individuals can have an imbalance of other |
related-gene |
gene-symbol |
ghr-page |
familial hypercalciuric hypocalcemia |
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molecules in the blood as well, including too much phosphate (hyperphosphatemia) |
GNA11 |
https://ghr.nlm.nih.gov/gene/GNA11 |
familial hypocalcemia |
MeSH |
D006996 |
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or too little magnesium (hypomagnesemia). Some people with autosomal dominant |
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hypocalcemia also have low levels of a hormone called parathyroid hormone |
OMIM |
601198 |
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(hypoparathyroidism). This hormone is involved in the regulation of calcium |
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levels in the blood. Abnormal levels of calcium and other molecules in the body |
OMIM |
615361 |
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can lead to a variety of signs and symptoms, although about half of affected |
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individuals have no associated health problems. |
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Orphanet |
428 |
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html:p |
The most common features of autosomal dominant hypocalcemia include muscle |
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spasms in the hands and feet (carpopedal spasms) and muscle cramping, prickling |
SNOMED CT |
711152006 |
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or tingling sensations (paresthesias), or twitching of the nerves and muscles |
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(neuromuscular irritability) in various parts of the body. More severely |
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affected individuals develop seizures, usually in infancy or childhood. |
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Sometimes, these symptoms occur only during episodes of illness or fever. |
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html:p |
Some people with autosomal dominant hypocalcemia have high levels of calcium in |
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their urine (hypercalciuria), which can lead to deposits of calcium in the |
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kidneys (nephrocalcinosis) or the formation of kidney stones (nephrolithiasis). |
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These conditions can damage the kidneys and impair their function. Sometimes, |
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abnormal deposits of calcium form in the brain, typically in structures called |
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basal ganglia, which help control movement. |
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html:p |
A small percentage of severely affected individuals have features of a kidney |
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disorder called Bartter syndrome in addition to hypocalcemia. These features can |
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include a shortage of potassium (hypokalemia) and magnesium and a buildup of |
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the hormone aldosterone (hyperaldosteronism) in the blood. The abnormal balance |
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of molecules can raise the pH of the blood, which is known as metabolic |
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alkalosis. The combination of features of these two conditions is sometimes |
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referred to as autosomal dominant hypocalcemia with Bartter syndrome or Bartter |
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syndrome type V. |
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html:p |
There are two types of autosomal dominant hypocalcemia distinguished by their |
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genetic cause. The signs and symptoms of the two types are generally the same. |
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| 145 |
Autosomal dominant leukodystrophy with autonomic disease |
https://ghr.nlm.nih.gov/condition/autosomal-dominant-leukodystrophy-with-autonom |
The exact prevalence of ADLD is unknown. At least 70 affected individuals |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ADLD |
db |
key |
2016-09 |
2017-12-29 |
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ic-disease |
have been described in the scientific literature, although this condition is |
html:p |
Autosomal dominant leukodystrophy with autonomic disease (ADLD) is one of a |
ad |
autosomal dominant |
LMNB1 |
https://ghr.nlm.nih.gov/gene/LMNB1 |
adult-onset autosomal dominant leukodystrophy with autonomic symptoms |
GTR |
C1868512 |
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likely to be underdiagnosed. |
group of genetic disorders called leukodystrophies. Leukodystrophies are |
autosomal dominant adult-onset demyelinating leukodystrophy |
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characterized by abnormalities of the nervous system's white matter, which |
LMNB1-related adult-onset autosomal dominant leukodystrophy |
GeneReviews |
lad-ad |
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consists of nerve fibers covered by a fatty substance called myelin. Myelin |
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insulates and protects nerve fibers and promotes the rapid transmission of nerve |
MeSH |
D020279 |
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impulses. |
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html:p |
People with ADLD develop signs and symptoms of the condition in adulthood, |
Orphanet |
99027 |
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typically in their forties or fifties. The first signs of the condition often |
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involve problems with the autonomic nervous system, which controls involuntary |
SNOMED CT |
448054001 |
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body processes such as the regulation of blood pressure and body temperature. |
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These problems include difficulty with bowel and bladder function, a sharp drop |
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in blood pressure upon standing (orthostatic hypotension), and erectile |
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dysfunction in men. Rarely, people experience an inability to sweat |
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(anhidrosis), which can lead to a dangerously high body temperature. |
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html:p |
In ADLD, movement difficulties often develop after the autonomic nervous system |
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problems. Affected individuals can have muscle stiffness (spasticity) or |
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weakness and involuntary rhythmic shaking, called intention tremor because it |
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worsens during movement. People with ADLD often have difficulty coordinating |
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movements (ataxia), including movements that involve judging distance or scale |
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(dysmetria), such as picking up a distant object, and rapidly alternating |
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movements (dysdiadochokinesis), including hand clapping or foot stomping. These |
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movement problems usually first affect the legs, but as the condition worsens, |
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the arms and eventually the face become involved. In some people with ADLD, the |
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symptoms worsen during episodes of fever, infection, or exposure to heat. Due to |
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difficulty walking and an unsteady gait, many affected individuals need a cane, |
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walker, or wheelchair for assistance. |
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html:p |
Intelligence is usually unaffected; however, people who have had ADLD for a long |
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time may have a decline in intellectual function (dementia). ADLD worsens |
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slowly, and affected individuals usually survive 10 to 20 years after the onset |
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of symptoms. |
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| 146 |
Autosomal dominant nocturnal frontal lobe epilepsy |
https://ghr.nlm.nih.gov/condition/autosomal-dominant-nocturnal-frontal-lobe-epil |
ADNFLE appears to be an uncommon form of epilepsy; its prevalence is |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ADNFLE |
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2009-04 |
2017-12-29 |
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epsy |
unknown. This condition has been reported in more than 100 families worldwide. |
html:p |
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon form |
ad |
autosomal dominant |
CHRNA2 |
https://ghr.nlm.nih.gov/gene/CHRNA2 |
GTR |
C1835905 |
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of epilepsy that runs in families. This disorder causes seizures that usually |
related-gene |
gene-symbol |
ghr-page |
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occur at night (nocturnally) while an affected person is sleeping. Some people |
CHRNA4 |
https://ghr.nlm.nih.gov/gene/CHRNA4 |
GTR |
C1838049 |
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with ADNFLE also have seizures during the day. |
related-gene |
gene-symbol |
ghr-page |
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html:p |
The seizures characteristic of ADNFLE tend to occur in clusters, with each one |
CHRNB2 |
https://ghr.nlm.nih.gov/gene/CHRNB2 |
GTR |
C1854335 |
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lasting from a few seconds to a few minutes. Some people have mild seizures that |
related-gene |
gene-symbol |
ghr-page |
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simply cause them to wake up from sleep. Others have more severe episodes that |
KCNT1 |
https://ghr.nlm.nih.gov/gene/KCNT1 |
GTR |
C1864125 |
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can include sudden, repetitive movements such as flinging or throwing motions of |
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the arms and bicycling movements of the legs. The person may get out of bed and |
GeneReviews |
adnfle |
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wander around, which can be mistaken for sleepwalking. The person may also cry |
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out or make moaning, gasping, or grunting sounds. These episodes are sometimes |
MeSH |
D017034 |
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misdiagnosed as nightmares, night terrors, or panic attacks. |
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html:p |
In some types of epilepsy, including ADNFLE, a pattern of neurological symptoms |
OMIM |
600513 |
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called an aura often precedes a seizure. The most common symptoms associated |
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with an aura in people with ADNFLE are tingling, shivering, a sense of fear, |
OMIM |
603204 |
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dizziness (vertigo), and a feeling of falling or being pushed. Some affected |
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people have also reported a feeling of breathlessness, overly fast breathing |
OMIM |
605375 |
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(hyperventilation), or choking. It is unclear what brings on seizures in people |
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with ADNFLE. Episodes may be triggered by stress or fatigue, but in most cases |
OMIM |
610353 |
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the seizures do not have any recognized triggers. |
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html:p |
The seizures associated with ADNFLE can begin anytime from infancy to |
Orphanet |
309 |
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mid-adulthood, but most begin in childhood. The episodes tend to become milder |
db |
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and less frequent with age. In most affected people, the seizures can be |
|
SNOMED CT |
230445007 |
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effectively controlled with medication. |
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db |
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html:p |
Most people with ADNFLE are intellectually normal, and there are no problems |
SNOMED CT |
698021005 |
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with their brain function between seizures. However, some people with ADNFLE |
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have experienced psychiatric disorders (such as schizophrenia), behavioral |
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problems, or intellectual disability. It is unclear whether these additional |
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features are directly related to epilepsy in these individuals. |
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| 147 |
Autosomal dominant partial epilepsy with auditory features |
https://ghr.nlm.nih.gov/condition/autosomal-dominant-partial-epilepsy-with-audit |
This condition appears to be uncommon, although its prevalence is unknown. |
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memo |
related-gene |
gene-symbol |
ghr-page |
ADLTE |
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2008-07 |
2017-12-29 |
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ory-features |
html:p |
Autosomal dominant partial epilepsy with auditory features (ADPEAF) is an |
ad |
autosomal dominant |
LGI1 |
https://ghr.nlm.nih.gov/gene/LGI1 |
ADPEAF |
GTR |
C1838062 |
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uncommon form of epilepsy that runs in families. This disorder causes seizures |
Autosomal dominant lateral temporal lobe epilepsy |
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usually characterized by sound-related (auditory) symptoms such as buzzing, |
Epilepsy, partial, with auditory features |
GeneReviews |
peaf |
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humming, or ringing. Some people experience more complex sounds during a |
ETL1 |
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seizure, such as specific voices or music, or changes in the volume of sounds. |
MeSH |
D004828 |
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Some people with ADPEAF suddenly become unable to understand language before |
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losing consciousness during a seizure. This inability to understand speech is |
OMIM |
600512 |
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known as receptive aphasia. Less commonly, seizures may cause visual |
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hallucinations, a disturbance in the sense of smell, a feeling of dizziness or |
Orphanet |
98820 |
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spinning (vertigo), or other symptoms affecting the senses. |
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html:p |
Seizures associated with ADPEAF usually begin in adolescence or young adulthood. |
SNOMED CT |
72103000 |
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They may be triggered by specific sounds, such as a ringing telephone or |
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speech, but in most cases the seizures do not have any recognized triggers. In |
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most affected people, seizures are infrequent and effectively controlled with |
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medication. |
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html:p |
Most people with ADPEAF have seizures described as simple partial seizures, |
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which do not cause a loss of consciousness. These seizures are thought to begin |
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in a part of the brain called the lateral temporal lobe. In some people, |
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seizure activity may spread from the lateral temporal lobe to affect other |
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regions of the brain. If seizure activity spreads to affect the entire brain, |
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it causes a loss of consciousness, muscle stiffening, and rhythmic jerking. |
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Episodes that begin as partial seizures and spread throughout the brain are |
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known as secondarily generalized seizures. |
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| 148 |
Autosomal dominant vitreoretinochoroidopathy |
https://ghr.nlm.nih.gov/condition/autosomal-dominant-vitreoretinochoroidopathy |
ADVIRC is considered a rare disease. Its prevalence is unknown. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ADVIRC |
db |
key |
2014-11 |
2017-12-29 |
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html:p |
Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a disorder that |
ad |
autosomal dominant |
BEST1 |
https://ghr.nlm.nih.gov/gene/BEST1 |
vitreoretinochoroidopathy dominant |
GTR |
C1860406 |
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affects several parts of the eyes, including the clear gel that fills the eye |
vitreoretinochoroidopathy with microcornea, glaucoma, and cataract |
db |
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(the vitreous), the light-sensitive tissue that lines the back of the eye (the |
vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos |
MeSH |
D015785 |
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retina), and the network of blood vessels within the retina (the choroid). The |
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eye abnormalities in ADVIRC can lead to varying degrees of vision impairment, |
MeSH |
D058499 |
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from mild reduction to complete loss, although some people with the condition |
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have normal vision. |
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OMIM |
193220 |
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html:p |
The signs and symptoms of ADVIRC vary, even among members of the same family. |
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Many affected individuals have microcornea, in which the clear front covering of |
Orphanet |
3086 |
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the eye (cornea) is small and abnormally curved. The area behind the cornea can |
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also be abnormally small, which is described as a shallow anterior chamber. |
SNOMED CT |
711162004 |
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Individuals with ADVIRC can develop increased pressure in the eyes (glaucoma) or |
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clouding of the lens of the eye (cataract). In addition, some people have |
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breakdown (degeneration) of the vitreous or the choroid. |
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html:p |
A characteristic feature of ADVIRC, visible with a special eye exam, is a |
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circular band of excess coloring (hyperpigmentation) in the retina. This feature |
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can help physicians diagnose the disorder. Affected individuals may also have |
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white spots on the retina. |
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| 149 |
Autosomal recessive axonal neuropathy with neuromyotonia |
https://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neu |
Autosomal recessive axonal neuropathy with neuromyotonia is a rare form of |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ARAN-NM |
db |
key |
2014-09 |
2017-12-29 |
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|
romyotonia |
inherited peripheral neuropathy. This group of conditions affects an estimated 1 |
html:p |
Autosomal recessive axonal neuropathy with neuromyotonia is a disorder that |
ar |
autosomal recessive |
HINT1 |
https://ghr.nlm.nih.gov/gene/HINT1 |
autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia |
GTR |
CN074193 |
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in 2,500 people. The prevalence of autosomal recessive axonal neuropathy with |
affects the peripheral nerves. Peripheral nerves connect the brain and spinal |
autosomal recessive neuromyotonia and axonal neuropathy |
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neuromyotonia is unknown. |
cord to muscles and to sensory cells that detect sensations such as touch, pain, |
Gamstorp-Wohlfart syndrome |
MeSH |
D010523 |
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heat, and sound. |
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myokymia, myotonia, and muscle wasting |
db |
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html:p |
Axonal neuropathy, a characteristic feature of this condition, is caused by |
NMAN |
OMIM |
137200 |
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damage to a particular part of peripheral nerves called axons, which are the |
db |
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extensions of nerve cells (neurons) that transmit nerve impulses. In people with |
Orphanet |
324442 |
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autosomal recessive axonal neuropathy with neuromyotonia, the damage primarily |
db |
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causes progressive weakness and wasting (atrophy) of muscles in the feet, legs, |
SNOMED CT |
711406009 |
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and hands. Muscle weakness may be especially apparent during exercise (exercise |
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intolerance) and can lead to an unusual walking style (gait), frequent falls, |
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and joint deformities (contractures) in the hands and feet. In some affected |
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individuals, axonal neuropathy also causes decreased sensitivity to touch, heat, |
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or cold, particularly in the lower arms or legs. |
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html:p |
Another feature of this condition is neuromyotonia (also known as Isaac |
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syndrome). Neuromyotonia results from overactivation (hyperexcitability) of |
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peripheral nerves, which leads to delayed relaxation of muscles after voluntary |
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tensing (contraction), muscle cramps, and involuntary rippling movement of the |
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muscles (myokymia). |
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| 150 |
Autosomal recessive cerebellar ataxia type 1 |
https://ghr.nlm.nih.gov/condition/autosomal-recessive-cerebellar-ataxia-type-1 |
More than 100 people have been diagnosed with ARCA1. This condition was |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ARCA1 |
db |
key |
2015-01 |
2017-12-29 |
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first discovered in individuals from the Beauce and Bas-Saint-Laurent regions of |
html:p |
Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition |
ar |
autosomal recessive |
SYNE1 |
https://ghr.nlm.nih.gov/gene/SYNE1 |
autosomal recessive spinocerebellar ataxia 8 |
GTR |
C1853116 |
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Quebec, Canada, but it has since been found in populations worldwide. |
characterized by progressive problems with movement due to a loss (atrophy) of |
recessive ataxia of Beauce |
db |
key |
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nerve cells in the part of the brain that coordinates movement (the cerebellum). |
GeneReviews |
syne1ca-ar |
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Signs and symptoms of the disorder first appear in early to mid-adulthood. |
db |
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People with this condition initially experience impaired speech (dysarthria), |
MeSH |
D002524 |
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problems with coordination and balance (ataxia), or both. They may also have |
db |
key |
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difficulty with movements that involve judging distance or scale (dysmetria). |
OMIM |
610743 |
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Other features of ARCA1 include abnormal eye movements (nystagmus) and problems |
db |
key |
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following the movements of objects with the eyes. The movement problems are |
Orphanet |
88644 |
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slowly progressive, often resulting in the need for a cane, walker, or |
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wheelchair. |
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SNOMED CT |
230233000 |
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| 151 |
Autosomal recessive congenital methemoglobinemia |
https://ghr.nlm.nih.gov/condition/autosomal-recessive-congenital-methemoglobinem |
The incidence of autosomal recessive congenital methemoglobinemia is |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
chronic familial methemoglobin reductase deficiency |
db |
key |
2015-05 |
2017-12-29 |
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ia |
unknown. |
html:p |
Autosomal recessive congenital methemoglobinemia is an inherited condition that |
ar |
autosomal recessive |
CYB5R3 |
https://ghr.nlm.nih.gov/gene/CYB5R3 |
congenital methemoglobinemia due to NADH-cytochrome b5 reductase 3 deficiency |
GTR |
C2749559 |
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mainly affects the function of red blood cells. Specifically, it alters a |
congenital NADH-methemoglobin reductase deficiency |
db |
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molecule within these cells called hemoglobin. Hemoglobin carries oxygen to |
cytochrome b5 reductase deficiency |
GTR |
C2749560 |
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cells and tissues throughout the body. In people with autosomal recessive |
deficiency of cytochrome-b5 reductase |
db |
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congenital methemoglobinemia, some of the normal hemoglobin is replaced by an |
diaphorase deficiency |
ICD-10-CM |
D74.0 |
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abnormal form called methemoglobin, which is unable to deliver oxygen to the |
NADH-CYB5R deficiency |
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body's tissues. As a result, tissues in the body become oxygen deprived, leading |
NADH-cytochrome b5 reductase deficiency |
MeSH |
D008708 |
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to a bluish appearance of the skin, lips, and nails (cyanosis). |
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html:p |
There are two forms of autosomal recessive congenital methemoglobinemia: types I |
OMIM |
250800 |
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and II. People with type I have cyanosis from birth and may experience weakness |
db |
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or shortness of breath related to the shortage of oxygen in their tissues. |
|
Orphanet |
621 |
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People with type II have cyanosis as well as severe neurological problems. After |
db |
key |
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a few months of apparently normal development, children with type II develop |
Orphanet |
139373 |
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severe brain dysfunction (encephalopathy), uncontrolled muscle tensing |
db |
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(dystonia), and involuntary limb movements (choreoathetosis); also, the size of |
Orphanet |
139380 |
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their head remains small and does not grow in proportion with their body |
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key |
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(microcephaly). People with type II have severe intellectual disability; they |
SNOMED CT |
234395000 |
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can recognize faces and usually babble but speak no words. They can sit |
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unassisted and grip objects but have impaired motor skills that leave them |
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unable to walk. In type II, growth is often slowed. Abnormal facial muscle |
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movements can interfere with swallowing, which can lead to feeding difficulties |
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and further slow growth. |
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html:p |
People with autosomal recessive congenital methemoglobinemia type I have a |
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normal life expectancy, but people with type II often do not survive past early |
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adulthood. |
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| 152 |
Autosomal recessive congenital stationary night blindness |
https://ghr.nlm.nih.gov/condition/autosomal-recessive-congenital-stationary-night-blindness |
Autosomal recessive congenital stationary night blindness is likely a rare |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
autosomal recessive complete congenital stationary night blindness |
db |
key |
2014-01 |
2017-12-29 |
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t-blindness |
disease; however, its prevalence is unknown. |
html:p |
Autosomal recessive congenital stationary night blindness is a disorder of the |
ar |
autosomal recessive |
CABP4 |
https://ghr.nlm.nih.gov/gene/CABP4 |
autosomal recessive incomplete congenital stationary night blindness |
GTR |
C1850362 |
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retina, which is the specialized tissue at the back of the eye that detects |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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light and color. People with this condition typically have difficulty seeing and |
GPR179 |
https://ghr.nlm.nih.gov/gene/GPR179 |
GTR |
C1864877 |
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distinguishing objects in low light (night blindness). For example, they may |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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not be able to identify road signs at night or see stars in the night sky. They |
GRM6 |
https://ghr.nlm.nih.gov/gene/GRM6 |
GTR |
C2750747 |
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also often have other vision problems, including loss of sharpness (reduced |
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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acuity), nearsightedness (myopia), involuntary movements of the eyes |
LRIT3 |
https://ghr.nlm.nih.gov/gene/LRIT3 |
GTR |
C3151193 |
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(nystagmus), and eyes that do not look in the same direction (strabismus). |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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html:p |
The vision problems associated with this condition are congenital, which means |
SLC24A1 |
https://ghr.nlm.nih.gov/gene/SLC24A1 |
GTR |
C3281215 |
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they are present from birth. They tend to remain stable (stationary) over time. |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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TRPM1 |
https://ghr.nlm.nih.gov/gene/TRPM1 |
GTR |
C3554399 |
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db |
key |
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ICD-10-CM |
H53.63 |
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db |
key |
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MeSH |
D009755 |
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db |
key |
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OMIM |
257270 |
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db |
key |
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OMIM |
610427 |
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db |
key |
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OMIM |
613216 |
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db |
key |
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OMIM |
613830 |
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db |
key |
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OMIM |
614565 |
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db |
key |
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OMIM |
615058 |
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db |
key |
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Orphanet |
215 |
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db |
key |
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|
SNOMED CT |
232061009 |
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| 153 |
Autosomal recessive hyper-IgE syndrome |
https://ghr.nlm.nih.gov/condition/autosomal-recessive-hyper-ige-syndrome |
AR-HIES is a rare disorder whose prevalence is unknown. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AR-HIES |
db |
key |
2015-10 |
2017-12-29 |
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高免疫球蛋白E症候群 |
html:p |
Autosomal recessive hyper-IgE syndrome (AR-HIES) is a disorder of the immune |
ar |
autosomal recessive |
DOCK8 |
https://ghr.nlm.nih.gov/gene/DOCK8 |
autosomal recessive HIES |
GTR |
C0022398 |
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Hyper IgE recurrent infection syndrome, autosomal recessive |
system. A hallmark feature of the condition is recurrent infections that are |
CID due to DOCK8 deficiency |
db |
key |
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severe and can be life-threatening. Skin infections can be caused by bacteria, |
combined immunodeficiency due to DOCK8 deficiency |
ICD-10-CM |
D82.4 |
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viruses, or fungi. These infections cause rashes, blisters, accumulations of pus |
DOCK8 deficiency |
db |
key |
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(abscesses), open sores, and scaling. People with AR-HIES also tend to have |
DOCK8 immunodeficiency syndrome |
MeSH |
D007589 |
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frequent bouts of pneumonia and other respiratory tract infections. |
hyper IgE recurrent infection syndrome, autosomal recessive |
db |
key |
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html:p |
Other immune system-related problems in people with AR-HIES include an |
hyper immunoglobulin E syndrome, autosomal recessive |
OMIM |
243700 |
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inflammatory skin disorder called eczema, food or environmental allergies, and |
hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive |
db |
key |
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asthma. In some affected individuals, the immune system malfunctions and attacks |
hyperimmunoglobulin E syndrome type 2 |
Orphanet |
169446 |
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the body's own tissues and organs, causing autoimmune disease. For example, |
non-skeletal hyper-IgE syndrome |
db |
key |
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autoimmunity can lead to abnormal destruction of red blood cells (hemolytic |
Orphanet |
217390 |
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anemia) in people with AR-HIES. |
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html:p |
AR-HIES is characterized by abnormally high levels of an immune system protein |
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called immunoglobulin E (IgE) in the blood; the levels are more than 10 times |
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higher than normal. IgE normally triggers an immune response against foreign |
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invaders in the body, particularly parasitic worms, and plays a role in |
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allergies. It is unclear why people with AR-HIES have such high levels of this |
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protein. People with AR-HIES also have highly elevated numbers of certain white |
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blood cells called eosinophils (hypereosinophilia). Eosinophils aid in the |
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immune response and are involved in allergic reactions. |
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html:p |
Some people with AR-HIES have neurological problems, such as paralysis that |
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affects the face or one side of the body (hemiplegia). Blockage of blood flow in |
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the brain or abnormal bleeding in the brain, both of which can lead to stroke, |
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can also occur in AR-HIES. |
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html:p |
People with AR-HIES have a greater-than-average risk of developing cancer, |
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particularly cancers of the blood or skin. |
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| 154 |
Autosomal recessive hypotrichosis |
https://ghr.nlm.nih.gov/condition/autosomal-recessive-hypotrichosis |
The worldwide prevalence of autosomal recessive hypotrichosis is unknown. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
AH |
db |
key |
2013-04 |
2017-12-29 |
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常染色体隐性遗传少毛症 |
In Japan, the condition is estimated to affect 1 in 10,000 individuals. |
html:p |
Autosomal recessive hypotrichosis is a condition that affects hair growth. |
ar |
autosomal recessive |
DSG4 |
https://ghr.nlm.nih.gov/gene/DSG4 |
autosomal recessive localized hypotrichosis |
GTR |
C1836672 |
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People with this condition have sparse hair (hypotrichosis) on the scalp |
related-gene |
gene-symbol |
ghr-page |
autosomal recessive woolly hair with or without hypotrichosis |
db |
key |
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beginning in infancy. This hair is usually coarse, dry, and tightly curled |
LIPH |
https://ghr.nlm.nih.gov/gene/LIPH |
HTL |
GTR |
C1842839 |
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(often described as woolly hair). Scalp hair may also be lighter in color than |
related-gene |
gene-symbol |
ghr-page |
hypotrichoses |
db |
key |
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expected and is fragile and easily broken. Affected individuals often cannot |
LPAR6 |
https://ghr.nlm.nih.gov/gene/LPAR6 |
hypotrichosis |
GTR |
C1848435 |
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grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair |
LAH |
db |
key |
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may be sparse as well. Over time, the hair problems can remain stable or |
total hypotrichosis, Mari type |
MeSH |
D007039 |
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progress to complete scalp hair loss (alopecia) and a decrease in body hair. |
db |
key |
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html:p |
Rarely, people with autosomal recessive hypotrichosis have skin problems |
OMIM |
278150 |
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affecting areas with sparse hair, such as redness (erythema), itchiness |
db |
key |
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(pruritus), or missing patches of skin (erosions) on the scalp. In areas of poor |
OMIM |
604379 |
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hair growth, they may also develop bumps called hyperkeratotic follicular |
db |
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papules that develop around hair follicles, which are specialized structures in |
OMIM |
607903 |
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the skin where hair growth occurs. |
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Orphanet |
55654 |
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db |
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SNOMED CT |
56558005 |
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| 155 |
Autosomal recessive primary microcephaly |
https://ghr.nlm.nih.gov/condition/autosomal-recessive-primary-microcephaly |
The prevalence of all forms of microcephaly that are present from birth |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
MCPH |
db |
key |
2011-04 |
2017-12-29 |
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常染色体隐性原級性小腦症 |
(primary microcephaly) ranges from 1 in 30,000 to 1 in 250,000 newborns |
html:p |
Autosomal recessive primary microcephaly (often shortened to MCPH, which stands |
ar |
autosomal recessive |
ASPM |
https://ghr.nlm.nih.gov/gene/ASPM |
microcephaly primary hereditary |
GTR |
C1837501 |
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worldwide. About 200 families with MCPH have been reported in the medical |
for "microcephaly primary hereditary") is a condition in which infants are born |
related-gene |
gene-symbol |
ghr-page |
primary autosomal recessive microcephaly |
db |
key |
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literature. This condition is more common in several specific populations, such |
with a very small head and a small brain. The term "microcephaly" comes from the |
CDK5RAP2 |
https://ghr.nlm.nih.gov/gene/CDK5RAP2 |
true microcephaly |
GTR |
C1842109 |
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as in northern Pakistan, where it affects an estimated 1 in 10,000 newborns. |
Greek words for "small head." |
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related-gene |
gene-symbol |
ghr-page |
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db |
key |
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html:p |
Infants with MCPH have an unusually small head circumference compared to other |
CENPJ |
https://ghr.nlm.nih.gov/gene/CENPJ |
GTR |
C1855081 |
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infants of the same sex and age. Head circumference is the distance around the |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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widest part of the head, measured by placing a measuring tape above the eyebrows |
CEP152 |
https://ghr.nlm.nih.gov/gene/CEP152 |
GTR |
C1858108 |
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and ears and around the back of the head. Affected infants' brain volume is |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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also smaller than usual, although they usually do not have any major |
KNL1 |
https://ghr.nlm.nih.gov/gene/KNL1 |
GTR |
C1858516 |
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abnormalities in the structure of the brain. The head and brain grow throughout |
related-gene |
gene-symbol |
ghr-page |
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childhood and adolescence, but they continue to be much smaller than normal. |
MCPH1 |
https://ghr.nlm.nih.gov/gene/MCPH1 |
GTR |
C1858535 |
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html:p |
MCPH causes intellectual disability, which is typically mild to moderate and |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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does not become more severe with age. Most affected individuals have delayed |
STIL |
https://ghr.nlm.nih.gov/gene/STIL |
GTR |
C2675187 |
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speech and language skills. Motor skills, such as sitting, standing, and |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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walking, may also be mildly delayed. |
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WDR62 |
https://ghr.nlm.nih.gov/gene/WDR62 |
GeneReviews |
microcephaly |
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html:p |
People with MCPH usually have few or no other features associated with the |
db |
key |
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condition. Some have a narrow, sloping forehead; mild seizures; problems with |
ICD-10-CM |
Q02 |
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attention or behavior; or short stature compared to others in their family. The |
db |
key |
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condition typically does not affect any other major organ systems or cause other |
MeSH |
D008831 |
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health problems. |
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db |
key |
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OMIM |
251200 |
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db |
key |
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OMIM |
604317 |
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db |
key |
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OMIM |
604321 |
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db |
key |
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OMIM |
604804 |
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db |
key |
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OMIM |
608393 |
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db |
key |
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OMIM |
608716 |
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db |
key |
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OMIM |
612703 |
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db |
key |
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Orphanet |
2512 |
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db |
key |
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|
SNOMED CT |
715981004 |
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| 156 |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay |
https://ghr.nlm.nih.gov/condition/autosomal-recessive-spastic-ataxia-of-charlevoix-saguena |
The incidence of ARSACS in the Charlevoix-Saguenay region of Quebec is |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ARSACS |
db |
key |
2013-06 |
2017-12-29 |
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estimated to be 1 in 1,500 to 2,000 individuals. Outside of Quebec, ARSACS is |
html:p |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay, more commonly known |
ar |
autosomal recessive |
SACS |
https://ghr.nlm.nih.gov/gene/SACS |
Charlevoix-Saguenay spastic ataxia |
GTR |
C1849140 |
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rare, but the incidence is unknown. |
as ARSACS, is a condition affecting muscle movement. People with ARSACS |
spastic ataxia of Charlevoix-Saguenay |
db |
key |
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typically have abnormal tensing of the muscles (spasticity), difficulty |
spastic ataxia, Charlevoix-Saguenay type |
GeneReviews |
arsacs |
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coordinating movements (ataxia), muscle wasting (amyotrophy), involuntary eye |
db |
key |
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movements (nystagmus), and speech difficulties (dysarthria). Other problems |
MeSH |
D001259 |
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may include deformities of the fingers and feet, reduced sensation and weakness |
db |
key |
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in the arms and legs (peripheral neuropathy), yellow streaks of fatty tissue in |
SNOMED CT |
702445005 |
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the light-sensitive tissue at the back of the eye (hypermyelination of the |
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retina), and less commonly, leaks in one of the valves that control blood flow |
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through the heart (mitral valve prolapse). An unsteady gait is the first |
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symptom of ARSACS. It usually appears between the age of 12 months and 18 |
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months, as toddlers are learning to walk. The signs and symptoms worsen over |
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the years, with increased spasticity and ataxia of the arms and legs. In some |
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cases spasticity disappears, but this apparent improvement is thought to be due |
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to degeneration of nerves in the arms and legs. Most affected individuals |
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require a wheelchair by the time they are in their thirties or forties. |
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html:p |
This condition was first seen in people of the Charlevoix-Saguenay region of |
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Quebec, Canada. The majority of people with ARSACS live in Quebec or have |
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recent ancestors from Quebec. People with ARSACS have also been identified in |
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Japan, Turkey, Tunisia, Spain, Italy, and Belgium. The signs and symptoms of |
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ARSACS seen in other countries differ from those in Quebec. In people with |
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ARSACS outside of Quebec, hypermyelination of the retina is seen less often, |
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intelligence may be below normal, and symptoms tend to appear at a later age. |
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| 157 |
Axenfeld-Rieger syndrome |
https://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome |
Axenfeld-Rieger syndrome has an estimated prevalence of 1 in 200,000 |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ARS |
db |
key |
2012-06 |
2017-12-29 |
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people. |
html:p |
Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also |
ad |
autosomal dominant |
FOXC1 |
https://ghr.nlm.nih.gov/gene/FOXC1 |
Axenfeld and Rieger anomaly |
GTR |
C0265341 |
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affect other parts of the body. This condition is characterized by abnormalities |
related-gene |
gene-symbol |
ghr-page |
Axenfeld anomaly |
db |
key |
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of the front part of the eye, an area known as the anterior segment. For |
PITX2 |
https://ghr.nlm.nih.gov/gene/PITX2 |
Axenfeld syndrome |
GTR |
C1832229 |
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example, the colored part of the eye (the iris), may be thin or poorly |
AXRA |
db |
key |
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developed. The iris normally has a single central hole, called the pupil, |
AXRS |
GTR |
C2678503 |
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through which light enters the eye. People with Axenfeld-Rieger syndrome often |
Rieger anomaly |
db |
key |
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have a pupil that is off-center (corectopia) or extra holes in the iris that can |
Rieger syndrome |
GTR |
C3714873 |
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look like multiple pupils (polycoria). This condition can also cause |
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db |
key |
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abnormalities of the cornea, which is the clear front covering of the eye. |
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ICD-10-CM |
Q13.81 |
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html:p |
About half of affected individuals develop glaucoma, a serious condition that |
db |
key |
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increases pressure inside the eye. When glaucoma occurs with Axenfeld-Rieger |
MeSH |
D005124 |
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syndrome, it most often develops in late childhood or adolescence, although it |
db |
key |
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can occur as early as infancy. Glaucoma can cause vision loss or blindness. |
OMIM |
180500 |
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html:p |
The signs and symptoms of Axenfeld-Rieger syndrome can also affect other parts |
db |
key |
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of the body. Many affected individuals have distinctive facial features such as |
OMIM |
601499 |
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widely spaced eyes (hypertelorism); a flattened mid-face with a broad, flat |
db |
key |
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nasal bridge; and a prominent forehead. The condition is also associated with |
OMIM |
602482 |
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dental abnormalities including unusually small teeth (microdontia) or fewer than |
db |
key |
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normal teeth (oligodontia). Some people with Axenfeld-Rieger syndrome have |
Orphanet |
782 |
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extra folds of skin around their belly button (redundant periumbilical skin). |
db |
key |
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Other, less common features can include heart defects, the opening of the |
SNOMED CT |
204152008 |
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urethra on the underside of the penis (hypospadias), narrowing of the anus (anal |
db |
key |
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stenosis), and abnormalities of the pituitary gland that can result in slow |
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SNOMED CT |
417604002 |
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growth. |
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html:p |
Researchers have described at least three types of Axenfeld-Rieger syndrome. The |
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types, which are numbered 1 through 3, are distinguished by their genetic |
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cause. |
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| 158 |
Baller-Gerold syndrome |
https://ghr.nlm.nih.gov/condition/baller-gerold-syndrome |
The prevalence of Baller-Gerold syndrome is unknown, but this rare |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
BGS |
db |
key |
2013-08 |
2017-12-29 |
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condition probably affects fewer than 1 per million people. Fewer than 40 cases |
html:p |
Baller-Gerold syndrome is a rare condition characterized by the premature fusion |
ar |
autosomal recessive |
RECQL4 |
https://ghr.nlm.nih.gov/gene/RECQL4 |
craniosynostosis-radial aplasia syndrome |
GTR |
C0265308 |
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have been reported in the medical literature. |
of certain skull bones (craniosynostosis) and abnormalities of bones in the |
craniosynostosis with radial defects |
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arms and hands. |
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GeneReviews |
bgs |
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html:p |
People with Baller-Gerold syndrome have prematurely fused skull bones, most |
db |
key |
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often along the coronal suture, the growth line that goes over the head from ear |
MeSH |
D019465 |
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to ear. Other sutures of the skull may be fused as well. These changes result |
db |
key |
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in an abnormally shaped head, a prominent forehead, and bulging eyes with |
OMIM |
218600 |
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shallow eye sockets (ocular proptosis). Other distinctive facial features can |
db |
key |
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include widely spaced eyes (hypertelorism), a small mouth, and a saddle-shaped |
Orphanet |
1225 |
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or underdeveloped nose. |
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key |
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html:p |
Bone abnormalities in the hands include missing fingers (oligodactyly) and |
SNOMED CT |
77608001 |
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malformed or absent thumbs. Partial or complete absence of bones in the forearm |
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is also common. Together, these hand and arm abnormalities are called radial ray |
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malformations. |
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html:p |
People with Baller-Gerold syndrome may have a variety of additional signs and |
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symptoms including slow growth beginning in infancy, small stature, and |
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malformed or missing kneecaps (patellae). A skin rash often appears on the arms |
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and legs a few months after birth. This rash spreads over time, causing patchy |
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changes in skin coloring, areas of thinning skin (atrophy), and small clusters |
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of blood vessels just under the skin (telangiectases). These chronic skin |
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problems are collectively known as poikiloderma. |
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html:p |
The varied signs and symptoms of Baller-Gerold syndrome overlap with features of |
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other disorders, namely Rothmund-Thomson syndrome and RAPADILINO syndrome. |
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These syndromes are also characterized by radial ray defects, skeletal |
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abnormalities, and slow growth. All of these conditions can be caused by |
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mutations in the same gene. Based on these similarities, researchers are |
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investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and |
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RAPADILINO syndrome are separate disorders or part of a single syndrome with |
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overlapping signs and symptoms. |
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| 159 |
Bannayan-Riley-Ruvalcaba syndrome |
https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome |
The prevalence of Bannayan-Riley-Ruvalcaba syndrome is unknown, although it |
html |
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inheritance-pattern |
code |
memo |
related-gene |
ghr-page |
Bannayan-Ruvalcaba-Riley syndrome |
db-key |
db |
key |
2012-09 |
2017-12-29 |
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appears to be rare. Several dozen cases have been reported in the medical |
html:p |
Bannayan-Riley-Ruvalcaba syndrome is a genetic condition characterized by a |
ad |
autosomal dominant |
https://ghr.nlm.nih.gov/gene/PTEN |
Bannayan-Zonana syndrome |
GTR |
C0265326 |
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literature. Researchers suspect that the disorder is underdiagnosed because its |
large head size (macrocephaly), multiple noncancerous tumors and tumor-like |
BRRS |
db-key |
db |
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signs and symptoms vary and some of them are subtle. |
growths called hamartomas, and dark freckles on the penis in males. The signs |
BZS |
|
GeneReviews |
phts |
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and symptoms of Bannayan-Riley-Ruvalcaba syndrome are present from birth or |
Myhre-Riley-Smith syndrome |
db-key |
db |
key |
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become apparent in early childhood. |
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Riley-Smith syndrome |
ICD-10-CM |
E71.440 |
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html:p |
At least half of affected infants have macrocephaly, and many also have a high |
Ruvalcaba-Myhre-Smith syndrome |
db-key |
db |
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birth weight and a large body size (macrosomia). Growth usually slows during |
Ruvalcaba-Myhre syndrome |
MeSH |
D006223 |
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childhood, so affected adults are of normal height and body size. About half of |
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key |
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all children with Bannayan-Riley-Ruvalcaba syndrome have intellectual disability |
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OMIM |
153480 |
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or delayed development, particularly the development of speech and of motor |
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skills such as sitting, crawling, and walking. These delays may improve with |
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Orphanet |
109 |
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age. |
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db-key |
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html:p |
About half of all people with Bannayan-Riley-Ruvalcaba syndrome develop |
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SNOMED CT |
234138005 |
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hamartomas in their intestines, known as hamartomatous polyps. Other |
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db-key |
db |
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noncancerous growths often associated with Bannayan-Riley-Ruvalcaba syndrome |
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SNOMED CT |
3073006 |
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include fatty tumors called lipomas and angiolipomas that develop under the |
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skin. Some affected individuals also develop hemangiomas, which are red or |
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purplish growths that consist of tangles of abnormal blood vessels. People with |
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Bannayan-Riley-Ruvalcaba syndrome may also have an increased risk of developing |
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certain cancers, although researchers are still working to determine the cancer |
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risks associated with this condition. |
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html:p |
Other signs and symptoms that have been reported in people with |
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Bannayan-Riley-Ruvalcaba syndrome include weak muscle tone (hypotonia) and other |
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muscle abnormalities, thyroid problems, and seizures. Skeletal abnormalities |
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have also been described with this condition, including an unusually large range |
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of joint movement (hyperextensibility), abnormal side-to-side curvature of the |
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spine (scoliosis), and a sunken chest (pectus excavatum). |
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html:p |
The features of Bannayan-Riley-Ruvalcaba syndrome overlap with those of another |
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disorder called Cowden syndrome. People with Cowden syndrome develop hamartomas |
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and other noncancerous growths; they also have an increased risk of developing |
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certain types of cancer. Both conditions can be caused by mutations in the PTEN gene. |
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Some people with Bannayan-Riley-Ruvalcaba syndrome have had relatives diagnosed with |
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Cowden syndrome, and other individuals have had the characteristic features of both conditions. |
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Based on these similarities, researchers have proposed that Bannayan-Riley-Ruvalcaba syndrome |
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and Cowden syndrome represent a spectrum of overlapping features known as PTEN |
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hamartoma tumor syndrome instead of two distinct conditions. |
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| 160 |
BAP1 tumor predisposition syndrome |
https://ghr.nlm.nih.gov/condition/bap1-tumor-predisposition-syndrome |
BAP1 tumor predisposition syndrome is a rare condition; its prevalence is |
html |
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|
inheritance-pattern |
code |
memo |
gene-symbol |
synonym |
BAP1-related tumor predisposition syndrome |
db-key |
db |
key |
2017-01 |
2017-12-29 |
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unknown. More than 70 families with the condition have been described in the |
html:p |
BAP1 tumor predisposition syndrome is an inherited disorder that increases |
ad |
autosomal dominant |
BAP1 |
synonym |
BAP1-TPDS |
GTR |
C3280492 |
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medical literature. |
the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, |
synonym |
COMMON syndrome |
db-key |
db |
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most commonly certain types of tumors that occur in the skin, eyes, kidneys, and |
synonym |
cutaneous/ocular melanoma, atypical melanocytic proliferations, and other |
GeneReviews |
bap1-tpds |
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the tissue that lines the chest, abdomen, and the outer surface of the internal organs |
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internal neoplasms |
db-key |
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(the mesothelium). Affected individuals can develop one or more types of tumor, |
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MeSH |
D009386 |
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and affected members of the same family can have different types. |
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db-key |
db |
key |
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html:p |
Some people with BAP1 tumor predisposition syndrome develop growths in the skin known as |
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Orphanet |
289539 |
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atypical Spitz tumors. People with this syndrome may have more than one of these tumors, |
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and they can have dozens. Atypical Spitz tumors are generally considered benign, although |
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it is unclear if they can become cancerous. Skin cancers are also associated with BAP1 tumor |
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predisposition syndrome, including cutaneous melanoma and basal cell carcinoma. |
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A type of eye cancer called uveal melanoma is the most common cancerous tumor |
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in BAP1 tumor predisposition syndrome. Although uveal melanoma does not usually cause |
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any symptoms, some people with this type of cancer have blurred vision; small, moving dots |
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(floaters) or flashes of light in their vision; headaches; or a visible dark spot on the eye. |
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People with BAP1 tumor predisposition syndrome are at risk of developing |
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malignant mesothelioma, which is cancer of the mesothelium. When associated with BAP1 |
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tumor predisposition syndrome, malignant mesothelioma most often occurs in the membrane that |
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lines the abdomen and covers the abdominal organs (the peritoneum). It less commonly occurs |
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in the outer covering of the lungs (the pleura). |
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A form of kidney cancer called clear cell renal cell carcinoma is also associated with the |
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condition. Researchers are still determining whether other forms of cancer are linked to |
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BAP1 tumor predisposition syndrome. |
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html:p |
When they occur in people with BAP1 tumor predisposition syndrome, cancers tend |
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to arise at a younger age and are often more aggressive than cancers in the general population. |
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The cancerous tumors in BAP1 tumor predisposition syndrome tend to spread (metastasize) |
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to other parts of the body. Survival of affected individuals with this syndrome is usually shorter |
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than in other people who have one of these cancers. However, individuals with malignant mesothelioma |
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as part of the BAP1 tumor predisposition syndrome appear to survive longer than those who |
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have the cancer without the syndrome. |
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| 161 |
Baraitser-Winter syndrome |
https://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome |
Baraitser-Winter syndrome is a rare condition. Fewer than 50 cases have |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
BRWS |
db |
key |
2013-04 |
2017-12-29 |
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been reported in the medical literature. |
html:p |
Baraitser-Winter syndrome is a condition that affects the development of many |
ad |
autosomal dominant |
ACTB |
https://ghr.nlm.nih.gov/gene/ACTB |
cerebro-frontofacial syndrome, type 3 |
GTR |
C1855722 |
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parts of the body, particularly the face and the brain. |
related-gene |
gene-symbol |
ghr-page |
Fryns-Aftimos syndrome |
db |
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html:p |
An unusual facial appearance is the most common characteristic of |
ACTG1 |
https://ghr.nlm.nih.gov/gene/ACTG1 |
iris coloboma with ptosis, hypertelorism, and mental retardation |
GTR |
C3281235 |
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Baraitser-Winter syndrome. Distinctive facial features can include widely spaced |
db |
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eyes (hypertelorism), large eyelid openings, droopy eyelids (ptosis), |
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GeneReviews |
baraitser-winter |
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high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space |
db |
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between the nose and upper lip (philtrum), full cheeks, and a pointed chin. |
MeSH |
D054221 |
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html:p |
Structural brain abnormalities are also present in most people with |
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Baraitser-Winter syndrome. These abnormalities are related to impaired neuronal |
OMIM |
243310 |
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migration, a process by which nerve cells (neurons) move to their proper |
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positions in the developing brain. The most frequent brain abnormality |
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OMIM |
614583 |
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associated with Baraitser-Winter syndrome is pachygyria, which is an area of the |
db |
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brain that has an abnormally smooth surface with fewer folds and grooves. Less |
Orphanet |
2995 |
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commonly, affected individuals have lissencephaly, which is similar to |
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pachygyria but involves the entire brain surface. These structural changes can |
SNOMED CT |
702410002 |
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cause mild to severe intellectual disability, developmental delay, and seizures. |
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html:p |
Other features of Baraitser-Winter syndrome can include short stature, ear |
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abnormalities and hearing loss, heart defects, presence of an extra (duplicated) |
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thumb, and abnormalities of the kidneys and urinary system. Some affected |
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individuals have limited movement of large joints, such as the elbows and knees, |
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which may be present at birth or develop over time. Rarely, people with |
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Baraitser-Winter syndrome have involuntary muscle tensing (dystonia). |
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| 162 |
Bardet-Biedl syndrome |
https://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome |
In most of North America and Europe, Bardet-Biedl syndrome has a prevalence |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
BBS |
db |
key |
2013-09 |
2017-12-29 |
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Bardet-Biedl氏综合症 |
of 1 in 140,000 to 1 in 160,000 newborns. The condition is more common on the |
html:p |
Bardet-Biedl syndrome is a disorder that affects many parts of the body. The |
ar |
autosomal recessive |
ARL6 |
https://ghr.nlm.nih.gov/gene/ARL6 |
GTR |
C0752166 |
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island of Newfoundland (off the east coast of Canada), where it affects an |
signs and symptoms of this condition vary among affected individuals, even among |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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estimated 1 in 17,000 newborns. It also occurs more frequently in the Bedouin |
members of the same family. |
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BBS1 |
https://ghr.nlm.nih.gov/gene/BBS1 |
GeneReviews |
bbs |
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population of Kuwait, affecting about 1 in 13,500 newborns. |
html:p |
Vision loss is one of the major features of Bardet-Biedl syndrome. Loss of |
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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vision occurs as the light-sensing tissue at the back of the eye (the retina) |
BBS2 |
https://ghr.nlm.nih.gov/gene/BBS2 |
MeSH |
D020788 |
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gradually deteriorates. Problems with night vision become apparent by |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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mid-childhood, followed by blind spots that develop in the side (peripheral) |
BBS4 |
https://ghr.nlm.nih.gov/gene/BBS4 |
OMIM |
209900 |
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vision. Over time, these blind spots enlarge and merge to produce tunnel vision. |
related-gene |
gene-symbol |
ghr-page |
|
db |
key |
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Most people with Bardet-Biedl syndrome also develop blurred central vision |
BBS5 |
https://ghr.nlm.nih.gov/gene/BBS5 |
Orphanet |
110 |
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(poor visual acuity) and become legally blind by adolescence or early adulthood. |
related-gene |
gene-symbol |
ghr-page |
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html:p |
Obesity is another characteristic feature of Bardet-Biedl syndrome. Abnormal |
BBS7 |
https://ghr.nlm.nih.gov/gene/BBS7 |
SNOMED CT |
232059000 |
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weight gain typically begins in early childhood and continues to be an issue |
related-gene |
gene-symbol |
ghr-page |
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throughout life. Complications of obesity can include type 2 diabetes, high |
BBS9 |
https://ghr.nlm.nih.gov/gene/BBS9 |
SNOMED CT |
5619004 |
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blood pressure (hypertension), and abnormally high cholesterol levels |
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gene-symbol |
ghr-page |
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(hypercholesterolemia). |
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BBS10 |
https://ghr.nlm.nih.gov/gene/BBS10 |
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html:p |
Other major signs and symptoms of Bardet-Biedl syndrome include the presence of |
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extra fingers or toes (polydactyly), intellectual disability or learning |
BBS12 |
https://ghr.nlm.nih.gov/gene/BBS12 |
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problems, and abnormalities of the genitalia. Most affected males produce |
related-gene |
gene-symbol |
ghr-page |
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reduced amounts of sex hormones (hypogonadism), and they are usually unable to |
CEP290 |
https://ghr.nlm.nih.gov/gene/CEP290 |
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father biological children (infertile). Many people with Bardet-Biedl syndrome |
related-gene |
gene-symbol |
ghr-page |
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also have kidney abnormalities, which can be serious or life-threatening. |
MKKS |
https://ghr.nlm.nih.gov/gene/MKKS |
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html:p |
Additional features of Bardet-Biedl syndrome can include impaired speech, |
related-gene |
gene-symbol |
ghr-page |
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delayed development of motor skills such as standing and walking, behavioral |
MKS1 |
https://ghr.nlm.nih.gov/gene/MKS1 |
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problems such as emotional immaturity and inappropriate outbursts, and |
related-gene |
gene-symbol |
ghr-page |
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clumsiness or poor coordination. Distinctive facial features, dental |
TRIM32 |
https://ghr.nlm.nih.gov/gene/TRIM32 |
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abnormalities, unusually short or fused fingers or toes, and a partial or |
related-gene |
gene-symbol |
ghr-page |
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complete loss of the sense of smell (anosmia) have also been reported in some |
TTC8 |
https://ghr.nlm.nih.gov/gene/TTC8 |
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people with Bardet-Biedl syndrome. Additionally, this condition can affect the |
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heart, liver, and digestive system. |
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| 163 |
Bare lymphocyte syndrome type I |
https://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-i |
BLS I is a rare disorder with an unknown prevalence. About 30 affected |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
HLA class I deficiency |
db |
key |
2017-08 |
2017-12-29 |
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individuals have been described in the medical literature. The condition is |
html:p |
Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune |
ar |
autosomal recessive |
TAP1 |
https://ghr.nlm.nih.gov/gene/TAP1 |
ICD-10-CM |
D81.6 |
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likely underdiagnosed, because doctors may not investigate the underlying cause |
system (primary immunodeficiency). Immunodeficiencies are conditions in which |
related-gene |
gene-symbol |
ghr-page |
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db |
key |
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of respiratory tract infections. |
the immune system is not able to protect the body effectively from foreign |
TAP2 |
https://ghr.nlm.nih.gov/gene/TAP2 |
MeSH |
D007153 |
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invaders such as bacteria or viruses. Starting in childhood, most people with |
related-gene |
gene-symbol |
ghr-page |
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BLS I develop recurrent bacterial infections in the lungs and airways |
TAPBP |
https://ghr.nlm.nih.gov/gene/TAPBP |
OMIM |
604571 |
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(respiratory tract). These recurrent infections can lead to a condition called |
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bronchiectasis, which damages the passages leading from the windpipe to the |
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lungs (bronchi) and can cause breathing problems. |
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html:p |
Many people with BLS I also have open sores (ulcers) on their skin, usually on |
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the face, arms, and legs. These ulcers typically develop in adolescence or young |
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adulthood. Some people with BLS I have no symptoms of the condition. |
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html:p |
People with BLS I have a shortage of specialized immune proteins called major |
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histocompatibility complex (MHC) class I proteins on cells, including |
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infection-fighting white blood cells (lymphocytes), which is where the condition |
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got its name. |
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| 163 |
Bare lymphocyte syndrome type II |
https://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-ii |
BLS II is a rare condition. At least 100 cases have been reported in the |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
bare lymphocyte syndrome type 2 |
db |
key |
2017-06 |
2017-12-29 |
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裸淋巴细胞综合征II型 |
medical literature. While BLS II has been found in several populations |
html:p |
Bare lymphocyte syndrome type II (BLS II) is an inherited disorder of the immune |
ar |
autosomal recessive |
CIITA |
https://ghr.nlm.nih.gov/gene/CIITA |
BLS type II |
GTR |
C1859534 |
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throughout the world, it appears to be especially prevalent in the Mediterranean |
system categorized as a form of combined immunodeficiency (CID). People with |
related-gene |
gene-symbol |
ghr-page |
major histocompatibility complex class II deficiency |
db |
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region and North Africa. |
BLS II lack virtually all immune protection from bacteria, viruses, and fungi. |
RFX5 |
https://ghr.nlm.nih.gov/gene/RFX5 |
MHC class II deficiency |
GTR |
C1859535 |
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They are prone to repeated and persistent infections that can be very serious or |
related-gene |
gene-symbol |
ghr-page |
SCID due to absence of class II HLA antigens |
db |
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life-threatening. These infections are often caused by "opportunistic" |
RFXANK |
https://ghr.nlm.nih.gov/gene/RFXANK |
SCID, HLA class 2-negative |
GTR |
C1859536 |
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organisms that ordinarily do not cause illness in people with a normal immune |
related-gene |
gene-symbol |
ghr-page |
SCID, HLA class II-negative |
db |
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system. |
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RFXAP |
https://ghr.nlm.nih.gov/gene/RFXAP |
severe combined immunodeficiency due to absent class II human leukocyte antigens |
GTR |
C1859537 |
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html:p |
BLS II is typically diagnosed in the first year of life. Most affected infants |
severe combined immunodeficiency, HLA class II-negative |
db |
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have persistent infections in the respiratory, gastrointestinal, and urinary |
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GTR |
C1859538 |
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tracts. Because of the infections, affected infants have difficulty absorbing |
db |
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nutrients (malabsorption), and they grow more slowly than their peers. |
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ICD-10-CM |
D81.7 |
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Eventually, the persistent infections lead to organ failure. Without treatment, |
db |
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individuals with BLS II usually do not survive past early childhood. |
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MeSH |
D007153 |
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html:p |
In people with BLS II, infection-fighting white blood cells (lymphocytes) are |
db |
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missing specialized proteins on their surface called major histocompatibility |
OMIM |
209920 |
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complex (MHC) class II proteins, which is where the condition got its name. |
db |
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Because BLS II is the most common and best studied form of a group of related |
Orphanet |
572 |
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conditions, it is often referred to as simply bare lymphocyte syndrome (BLS). |
db |
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SNOMED CT |
71904008 |
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| 165 |
Bart-Pumphrey syndrome |
https://ghr.nlm.nih.gov/condition/bart-pumphrey-syndrome |
Bart-Pumphrey syndrome is a rare disorder; its exact prevalence is unknown. |
html |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
knuckle pads, deafness, and leukonychia syndrome |
db |
key |
2012-11 |
2017-12-29 |
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Only a few affected families and individual cases have been identified. |
html:p |
Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and |
ad |
autosomal dominant |
GJB2 |
https://ghr.nlm.nih.gov/gene/GJB2 |
knuckle pads, leukonychia, and sensorineural deafness |
GTR |
C0266004 |
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hearing loss. |
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html:p |
People with Bart-Pumphrey syndrome typically have a white discoloration of the |
MeSH |
D007645 |
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nails (leukonychia); the nails may also be thick and crumbly. Affected |
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individuals often have wart-like (verrucous) skin growths called knuckle pads on |
OMIM |
149200 |
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the knuckles of the fingers and toes. They may also have thickening of the skin |
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on the palms of the hands and soles of the feet (palmoplantar keratoderma). The |
SNOMED CT |
1271009 |
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skin abnormalities generally become noticeable during childhood. |
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html:p |
The hearing loss associated with Bart-Pumphrey syndrome ranges from moderate to |
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profound and is typically present from birth (congenital). |
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html:p |
The signs and symptoms of this disorder may vary even within the same family; |
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while almost all affected individuals have hearing loss, they may have different |
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combinations of the other associated features. |
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| 166 |
Barth syndrome |
https://ghr.nlm.nih.gov/condition/barth-syndrome |
Barth syndrome is estimated to affect 1 in 300,000 to 400,000 individuals |
html:p |
Barth syndrome is a rare condition characterized by an enlarged and weakened |
xr |
X-linked recessive |
TAZ |
https://ghr.nlm.nih.gov/gene/TAZ |
3-methylglutaconic aciduria type 2 |
db |
key |
2014-07 |
2017-12-29 |
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巴氏症候群 |
worldwide. More than 150 cases have been described in the scientific literature. |
heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal |
3 methylglutaconic aciduria, type II |
GTR |
C0574083 |
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myopathy), recurrent infections due to small numbers of white blood cells |
BTHS |
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(neutropenia), and short stature. Barth syndrome occurs almost exclusively in |
cardioskeletal myopathy with neutropenia and abnormal mitochondria |
GeneReviews |
barth |
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males. |
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DNAJC19 defect |
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html:p |
In males with Barth syndrome, dilated cardiomyopathy is often present at birth |
MGA type 2 |
ICD-10-CM |
E78.71 |
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or develops within the first months of life. Over time, the heart muscle becomes |
MGA type II |
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increasingly weakened and is less able to pump blood. Individuals with Barth |
TAZ defect |
MeSH |
D056889 |
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syndrome may have elastic fibers in place of muscle fibers in some areas of the |
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heart muscle, which contributes to the cardiomyopathy. This condition is called |
OMIM |
302060 |
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endocardial fibroelastosis; it results in thickening of the muscle and impairs |
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its ability to pump blood. In people with Barth syndrome, the heart problems can |
Orphanet |
111 |
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lead to heart failure. In rare cases, the cardiomyopathy gets better over time |
db |
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and affected individuals eventually have no symptoms of heart disease. |
|
SNOMED CT |
297231002 |
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html:p |
In Barth syndrome, skeletal myopathy, particularly of the muscles closest to the |
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center of the body (proximal muscles), is usually noticeable from birth and |
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causes low muscle tone (hypotonia). The muscle weakness often causes delay of |
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motor skills such as crawling and walking. Additionally, affected individuals |
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tend to experience extreme tiredness (fatigue) during strenuous physical |
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activity. |
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html:p |
Most males with Barth syndrome have neutropenia. The levels of white blood cells |
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can be consistently low (persistent), can vary from normal to low |
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(intermittent), or can cycle between regular episodes of normal and low |
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(cyclical). Neutropenia makes it more difficult for the body to fight off |
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foreign invaders such as bacteria and viruses, so affected individuals have an |
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increased risk of recurrent infections. |
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html:p |
Newborns with Barth syndrome are often smaller than normal, and their growth |
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continues to be slow throughout life. Some boys with this condition experience a |
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growth spurt in puberty and are of average height as adults, but many men with |
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Barth syndrome continue to have short stature in adulthood. |
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html:p |
Males with Barth syndrome often have distinctive facial features including |
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prominent cheeks. Affected individuals typically have normal intelligence but |
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often have difficulty performing tasks involving math or visual-spatial skills |
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such as puzzles. |
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html:p |
Males with Barth syndrome have increased levels of a substance called |
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3-methylglutaconic acid in their blood and urine. The amount of the acid does |
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not appear to influence the signs and symptoms of the condition. Barth syndrome |
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is one of a group of metabolic disorders that can be diagnosed by the presence |
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of increased levels of 3-methylglutaconic acid in urine (3-methylglutaconic |
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aciduria). |
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html:p |
Even though most features of Barth syndrome are present at birth or in infancy, |
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affected individuals may not experience health problems until later in life. The |
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age at which individuals with Barth syndrome display symptoms or are diagnosed |
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varies greatly. The severity of signs and symptoms among affected individuals is |
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also highly variable. |
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html:p |
Males with Barth syndrome have a reduced life expectancy. Many affected children |
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die of heart failure or infection in infancy or early childhood, but those who |
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live into adulthood can survive into their late forties. |
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| 167 |
Bartter syndrome |
https://ghr.nlm.nih.gov/condition/bartter-syndrome |
The exact prevalence of this disorder is unknown, although it likely |
html:p |
Bartter syndrome is a group of very similar kidney disorders that cause an |
ar |
autosomal recessive |
BSND |
https://ghr.nlm.nih.gov/gene/BSND |
aldosteronism with hyperplasia of the adrenal cortex |
db |
key |
2011-02 |
2017-12-29 |
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Bartter氏综合征 |
affects about 1 per million people worldwide. The condition appears to be more |
imbalance of potassium, sodium, chloride, and related molecules in the body. |
related-gene |
gene-symbol |
ghr-page |
Bartter disease |
GTR |
C0004775 |
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巴特综合征 |
common in Costa Rica and Kuwait than in other populations. |
html:p |
In some cases, Bartter syndrome becomes apparent before birth. The disorder can |
CLCNKA |
https://ghr.nlm.nih.gov/gene/CLCNKA |
Bartter's syndrome |
db |
key |
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巴特氏症候群 |
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cause polyhydramnios, which is an increased volume of fluid surrounding the |
related-gene |
gene-symbol |
ghr-page |
juxtaglomerular hyperplasia with secondary aldosteronism |
GTR |
C1846343 |
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fetus (amniotic fluid). Polyhydramnios increases the risk of premature birth. |
CLCNKB |
https://ghr.nlm.nih.gov/gene/CLCNKB |
db |
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html:p |
Beginning in infancy, affected individuals often fail to grow and gain weight at |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1865270 |
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the expected rate (failure to thrive). They lose excess amounts of salt (sodium |
KCNJ1 |
https://ghr.nlm.nih.gov/gene/KCNJ1 |
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chloride) in their urine, which leads to dehydration, constipation, and |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2751312 |
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increased urine production (polyuria). In addition, large amounts of calcium are |
SLC12A1 |
https://ghr.nlm.nih.gov/gene/SLC12A1 |
db |
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lost through the urine (hypercalciuria), which can cause weakening of the bones |
GTR |
CN239220 |
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(osteopenia). Some of the calcium is deposited in the kidneys as they are |
db |
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concentrating urine, leading to hardening of the kidney tissue |
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ICD-10-CM |
E26.81 |
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(nephrocalcinosis). Bartter syndrome is also characterized by low levels of |
db |
key |
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potassium in the blood (hypokalemia), which can result in muscle weakness, |
MeSH |
D001477 |
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cramping, and fatigue. Rarely, affected children develop hearing loss caused by |
db |
key |
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abnormalities in the inner ear (sensorineural deafness). |
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OMIM |
241200 |
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html:p |
Two major forms of Bartter syndrome are distinguished by their age of onset and |
db |
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severity. One form begins before birth (antenatal) and is often |
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OMIM |
601678 |
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life-threatening. The other form, often called the classical form, begins in |
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key |
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early childhood and tends to be less severe. Once the genetic causes of Bartter |
OMIM |
602522 |
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syndrome were identified, researchers also split the disorder into different |
db |
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types based on the genes involved. Types I, II, and IV have the features of |
OMIM |
607364 |
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antenatal Bartter syndrome. Because type IV is also associated with hearing |
db |
key |
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loss, it is sometimes called antenatal Bartter syndrome with sensorineural |
OMIM |
613090 |
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deafness. Type III usually has the features of classical Bartter syndrome. |
db |
key |
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Orphanet |
112 |
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SNOMED CT |
69194003 |
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SNOMED CT |
707742001 |
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| 168 |
Beare-Stevenson cutis gyrata syndrome |
https://ghr.nlm.nih.gov/condition/beare-stevenson-cutis-gyrata-syndrome |
Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder; its |
html:p |
Beare-Stevenson cutis gyrata syndrome is a genetic disorder characterized by |
ad |
autosomal dominant |
FGFR2 |
https://ghr.nlm.nih.gov/gene/FGFR2 |
cutis gyrata syndrome of Beare and Stevenson |
db |
key |
2008-02 |
2017-12-29 |
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incidence is unknown. Fewer than 20 people with this condition have been |
skin abnormalities and the premature fusion of certain bones of the skull |
cutis gyrata syndrome of Beare-Stevenson |
GTR |
C1852406 |
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reported worldwide. |
(craniosynostosis). This early fusion prevents the skull from growing normally |
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and affects the shape of the head and face. |
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GeneReviews |
craniosynostosis |
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html:p |
Many of the characteristic facial features of Beare-Stevenson cutis gyrata |
db |
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syndrome result from the premature fusion of the skull bones. The head is unable |
MeSH |
D003398 |
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to grow normally, which leads to a cloverleaf-shaped skull, wide-set and |
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bulging eyes, ear abnormalities, and an underdeveloped upper jaw. Early fusion |
MeSH |
D012873 |
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of the skull bones also affects the growth of the brain, causing delayed |
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development and intellectual disability. |
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OMIM |
123790 |
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html:p |
A skin abnormality called cutis gyrata is also characteristic of this disorder. |
db |
key |
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The skin has a furrowed and wrinkled appearance, particularly on the face, near |
Orphanet |
1531 |
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the ears, and on the palms and soles of the feet. Additionally, thick, dark, |
db |
key |
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velvety areas of skin (acanthosis nigricans) are sometimes found on the hands |
Orphanet |
1555 |
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and feet and in the genital region. |
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db |
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html:p |
Additional signs and symptoms of Beare-Stevenson cutis gyrata syndrome can |
SNOMED CT |
703528008 |
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include a blockage of the nasal passages (choanal atresia), overgrowth of the |
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umbilical stump (tissue that normally falls off shortly after birth, leaving the |
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belly button), and abnormalities of the genitalia and anus. The medical |
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complications associated with this condition are often life-threatening in |
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infancy or early childhood. |
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Becker muscular dystrophy |
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貝克型肌肉萎縮症 |
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related-gene-list |
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| 169 |
Beckwith-Wiedemann syndrome |
https://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome |
Beckwith-Wiedemann syndrome affects an estimated 1 in 13,700 newborns |
html:p |
Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. |
ad |
autosomal dominant |
CDKN1C |
https://ghr.nlm.nih.gov/gene/CDKN1C |
BWS |
db |
key |
2015-06 |
2017-12-29 |
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Beckwith Wiedemann 氏综合症 |
worldwide. The condition may actually be more common than this estimate because |
It is classified as an overgrowth syndrome, which means that affected infants |
related-gene |
gene-symbol |
ghr-page |
Wiedemann-Beckwith syndrome (WBS) |
GTR |
C0004903 |
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Beckwith Wiedemann 症候群 |
some people with mild symptoms are never diagnosed. |
are considerably larger than normal (macrosomia) and tend to be taller than |
H19 |
https://ghr.nlm.nih.gov/gene/H19 |
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their peers during childhood. Growth begins to slow by about age 8, and adults |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
bws |
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with this condition are not unusually tall. In some children with |
IGF2 |
https://ghr.nlm.nih.gov/gene/IGF2 |
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Beckwith-Wiedemann syndrome, specific parts of the body on one side or the other |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D001506 |
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may grow abnormally large, leading to an asymmetric or uneven appearance. This |
KCNQ1OT1 |
https://ghr.nlm.nih.gov/gene/KCNQ1OT1 |
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unusual growth pattern, which is known as hemihyperplasia, usually becomes less |
related-chromosome |
name |
ghr-page |
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OMIM |
130650 |
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apparent over time. |
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11 |
https://ghr.nlm.nih.gov/chromosome/11 |
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html:p |
The signs and symptoms of Beckwith-Wiedemann syndrome vary among affected |
Orphanet |
116 |
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individuals. Some children with this condition are born with an opening in the |
db |
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wall of the abdomen (an omphalocele) that allows the abdominal organs to |
SNOMED CT |
81780002 |
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protrude through the belly-button. Other abdominal wall defects, such as a soft |
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out-pouching around the belly-button (an umbilical hernia), are also common. |
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Some infants with Beckwith-Wiedemann syndrome have an abnormally large tongue |
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(macroglossia), which may interfere with breathing, swallowing, and speaking. |
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Other major features of this condition include abnormally large abdominal organs |
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(visceromegaly), creases or pits in the skin near the ears, low blood sugar |
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(hypoglycemia) in infancy, and kidney abnormalities. |
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html:p |
Children with Beckwith-Wiedemann syndrome are at an increased risk of developing |
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several types of cancerous and noncancerous tumors, particularly a form of |
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kidney cancer called Wilms tumor and a form of liver cancer called |
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hepatoblastoma. Tumors develop in about 10 percent of people with this |
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condition and almost always appear in childhood. |
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html:p |
Most children and adults with Beckwith-Wiedemann syndrome do not have serious |
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medical problems associated with the condition. Their life expectancy is usually |
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normal. |
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| 170 |
Behçet disease |
https://ghr.nlm.nih.gov/condition/behcet-disease |
Behçet disease is most common in Mediterranean countries, the Middle East, |
html:p |
Behçet disease is an inflammatory condition that affects many parts of the body. |
u |
pattern unknown |
HLA-B |
https://ghr.nlm.nih.gov/gene/HLA-B |
Adamantiades-Behcet disease |
db |
key |
2017-06 |
2017-12-29 |
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白塞氏症 |
|
Japan, and other parts of Asia. However, it has been found in populations |
The health problems associated with Behçet disease result from widespread |
Behcet disease |
GTR |
C0004943 |
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worldwide.The highest prevalence of Behçet disease has been reported in northern |
inflammation of blood vessels (vasculitis). This inflammation most commonly |
Behcet syndrome |
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Turkey, where the disorder affects up to 420 in 100,000 people. The disorder is |
affects small blood vessels in the mouth, genitals, skin, and eyes. |
Behcet triple symptom complex |
ICD-10-CM |
M35.2 |
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rare in northern European countries and the United States, where it generally |
html:p |
Painful mouth sores called aphthous ulcers are usually the first sign of Behçet |
Behcet's syndrome |
db |
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affects fewer than 1 in 100,000 people. |
disease. These sores can occur on the lips, tongue, inside the cheeks, the roof |
malignant aphthosis |
MeSH |
D001528 |
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of the mouth, the throat, and the tonsils. The ulcers look like common canker |
Old Silk Route disease |
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sores, and they typically heal within one to two weeks. About 75 percent of all |
triple symptom complex |
OMIM |
109650 |
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people with Behçet disease develop similar ulcers on the genitals. These ulcers |
db |
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occur most frequently on the scrotum in men and on the labia in women. |
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Orphanet |
117 |
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html:p |
Behçet disease can also cause painful bumps and sores on the skin. Most |
db |
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affected individuals develop pus-filled bumps that resemble acne. These bumps |
SNOMED CT |
310701003 |
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can occur anywhere on the body. Some affected people also have red, tender |
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nodules called erythema nodosum. These nodules usually develop on the legs but |
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can also occur on the arms, face, and neck. |
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html:p |
An inflammation of the eye called uveitis is found in more than half of people |
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with Behçet disease. Eye problems are more common in younger people with the |
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disease and affect men more often than women. Uveitis can result in blurry |
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vision and an extreme sensitivity to light (photophobia). Rarely, inflammation |
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can also cause eye pain and redness. If untreated, the eye problems associated |
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with Behçet disease can lead to blindness. |
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html:p |
Joint involvement is also common in Behçet disease. Often this affects one joint |
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at a time, with each affected joint becoming swollen and painful and then |
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getting better. |
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Less commonly, Behçet disease can affect the brain and spinal cord (central |
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nervous system), gastrointestinal tract, large blood vessels, heart, lungs, and |
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kidneys. Central nervous system abnormalities can lead to headaches, confusion, |
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personality changes, memory loss, impaired speech, and problems with balance and |
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movement. Involvement of the gastrointestinal tract can lead to a hole in the |
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wall of the intestine (intestinal perforation), which can cause serious |
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infection and may be life-threatening. |
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html:p |
The signs and symptoms of Behçet disease usually begin in a person's twenties or |
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thirties, although they can appear at any age. Some affected people have |
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relatively mild symptoms that are limited to sores in the mouth and on the |
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genitals. Others have more severe symptoms affecting various parts of the body, |
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including the eyes and the vital organs. The features of Behçet disease |
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typically come and go over a period of months or years. In most affected |
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individuals, the health problems associated with this disorder improve with age. |
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| 171 |
Benign chronic pemphigus |
https://ghr.nlm.nih.gov/condition/benign-chronic-pemphigus |
Benign chronic pemphigus is a rare condition; its prevalence is unknown. |
html:p |
Benign chronic pemphigus, often called Hailey-Hailey disease, is a rare skin |
ad |
autosomal dominant |
ATP2C1 |
https://ghr.nlm.nih.gov/gene/ATP2C1 |
benign familial pemphigus |
db |
key |
2016-06 |
2017-12-29 |
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condition that usually appears in early adulthood. The disorder is characterized |
familial benign chronic pemphigus |
GTR |
C0085106 |
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by red, raw, and blistered areas of skin that occur most often in skin folds, |
Hailey-Hailey disease |
db |
key |
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such as the groin, armpits, neck, and under the breasts. These inflamed areas |
pemphigus, benign familial |
MeSH |
D016506 |
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can become crusty or scaly and may itch and burn. The skin problems tend to |
db |
key |
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worsen with exposure to moisture (such as sweat), friction, and hot weather. |
OMIM |
169600 |
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html:p |
The severity of benign chronic pemphigus varies from relatively mild episodes of |
db |
key |
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skin irritation to widespread, persistent areas of raw and blistered skin that |
Orphanet |
2841 |
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interfere with daily activities. Affected skin may become infected with bacteria |
db |
key |
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or fungi, leading to pain and odor. Although the condition is described as |
|
SNOMED CT |
79468000 |
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"benign" (noncancerous), in rare cases the skin lesions may develop into a form |
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of skin cancer called squamous cell carcinoma. |
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html:p |
Many affected individuals also have white lines running the length of their |
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fingernails. These lines do not cause any problems, but they can be useful for |
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diagnosing benign chronic pemphigus. |
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related-gene-list |
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| 172 |
Benign essential blepharospasm |
https://ghr.nlm.nih.gov/condition/benign-essential-blepharospasm |
Benign essential blepharospasm affects an estimated 20,000 to 50,000 people |
html:p |
Benign essential blepharospasm is a condition characterized by abnormal blinking |
ad |
autosomal dominant |
DRD5 |
https://ghr.nlm.nih.gov/gene/DRD5 |
essential blepharospasm |
db |
key |
2010-05 |
2017-12-29 |
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良性自發性眼瞼痙攣症 |
in the United States. For unknown reasons, it occurs in women more than twice |
or spasms of the eyelids. This condition is a type of dystonia, which is a |
related-gene |
gene-symbol |
ghr-page |
eyelid twitching |
GTR |
C2930898 |
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as often as it occurs in men. |
group of movement disorders involving uncontrolled tensing of the muscles |
TOR1A |
https://ghr.nlm.nih.gov/gene/TOR1A |
primary blepharospasm |
db |
key |
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(muscle contractions), rhythmic shaking (tremors), and other involuntary |
spasm of eyelids |
ICD-10-CM |
G24.5 |
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movements. Benign essential blepharospasm is different from the common, |
db |
key |
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temporary eyelid twitching that can be caused by fatigue, stress, or caffeine. |
MeSH |
D001764 |
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html:p |
The signs and symptoms of benign essential blepharospasm usually appear in mid- |
db |
key |
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to late adulthood and gradually worsen. The first symptoms of the condition |
OMIM |
606798 |
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include an increased frequency of blinking, dry eyes, and eye irritation that is |
db |
key |
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aggravated by wind, air pollution, sunlight, and other irritants. These |
|
Orphanet |
93955 |
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symptoms may begin in one eye, but they ultimately affect both eyes. As the |
db |
key |
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condition progresses, spasms of the muscles surrounding the eyes cause |
SNOMED CT |
59026006 |
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involuntary winking or squinting. Affected individuals have increasing |
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difficulty keeping their eyes open, which can lead to severe vision impairment. |
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html:p |
In more than half of all people with benign essential blepharospasm, the |
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symptoms of dystonia spread beyond the eyes to affect other facial muscles and |
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muscles in other areas of the body. When people with benign essential |
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blepharospasm also experience involuntary muscle spasms affecting the tongue and |
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jaw (oromandibular dystonia), the combination of signs and symptoms is known as |
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Meige syndrome. |
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related-gene-list |
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| 173 |
Benign familial neonatal seizures |
https://ghr.nlm.nih.gov/condition/benign-familial-neonatal-seizures |
Benign familial neonatal seizures occurs in approximately 1 in 100,000 |
html:p |
Benign familial neonatal seizures (BFNS) is a condition characterized by |
ad |
autosomal dominant |
KCNQ2 |
https://ghr.nlm.nih.gov/gene/KCNQ2 |
benign familial neonatal convulsions |
db |
key |
2011-05 |
2017-12-29 |
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newborns. |
recurrent seizures in newborn babies. The seizures begin around day 3 of life |
related-gene |
gene-symbol |
ghr-page |
benign familial neonatal epilepsy |
GTR |
C1852581 |
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and usually go away within 1 to 4 months. The seizures can involve only one side |
KCNQ3 |
https://ghr.nlm.nih.gov/gene/KCNQ3 |
benign neonatal convulsions |
db |
key |
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of the brain (focal seizures) or both sides (generalized seizures). Many |
benign neonatal epilepsy |
GTR |
C1852587 |
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infants with this condition have generalized tonic-clonic seizures (also known |
BFNS |
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key |
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as grand mal seizures). This type of seizure involves both sides of the brain |
GTR |
CN200689 |
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and affects the entire body, causing muscle rigidity, convulsions, and loss of |
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consciousness. |
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GeneReviews |
bfns |
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html:p |
A test called an electroencephalogram (EEG) is used to measure the electrical |
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activity of the brain. Abnormalities on an EEG test, measured during no seizure |
GeneReviews |
kcnq3-dis |
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activity, can indicate a risk for seizures. However, infants with BFNS usually |
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have normal EEG readings. In some affected individuals, the EEG shows a specific |
MeSH |
D020936 |
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abnormality called the theta pointu alternant pattern. By age 2, most affected |
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individuals who had EEG abnormalities have a normal EEG reading. |
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OMIM |
121200 |
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html:p |
Typically, seizures are the only symptom of BFNS, and most people with this |
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condition develop normally. However, some affected individuals develop |
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OMIM |
121201 |
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intellectual disability that becomes noticeable in early childhood. A small |
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percentage of people with BFNS also have a condition called myokymia, which is |
SNOMED CT |
230410004 |
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an involuntary rippling movement of the muscles. In addition, in about 15 |
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percent of people with BFNS, recurrent seizures (epilepsy) will come back later |
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in life after the seizures associated with BFNS have gone away. The age that |
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epilepsy begins is variable. |
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related-gene-list |
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| 174 |
Benign recurrent intrahepatic cholestasis |
https://ghr.nlm.nih.gov/condition/benign-recurrent-intrahepatic-cholestasis |
BRIC is a rare disorder. Although the prevalence is unknown, this condition |
html:p |
Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodes of |
ar |
autosomal recessive |
ABCB11 |
https://ghr.nlm.nih.gov/gene/ABCB11 |
ABCB11-related intrahepatic cholestasis |
db |
key |
2012-04 |
2017-12-29 |
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is less common than the related disorder PFIC, which affects approximately 1 in |
liver dysfunction called cholestasis. During these episodes, the liver cells |
related-gene |
gene-symbol |
ghr-page |
ATP8B1-related intrahepatic cholestasis |
GTR |
C1855731 |
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50,000 to 100,000 people worldwide. |
have a reduced ability to release a digestive fluid called bile. Because the |
ATP8B1 |
https://ghr.nlm.nih.gov/gene/ATP8B1 |
BRIC |
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problems with bile release occur within the liver (intrahepatic), the condition |
low gamma-GT familial intrahepatic cholestasis |
GTR |
C2608083 |
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is described as intrahepatic cholestasis. Episodes of cholestasis can last from |
recurrent familial intrahepatic cholestasis |
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weeks to months, and the time between episodes, during which there are usually |
GeneReviews |
pfic |
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no symptoms, can vary from weeks to years. |
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html:p |
The first episode of cholestasis usually occurs in an affected person's teens or |
MeSH |
D002780 |
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twenties. An attack typically begins with severe itchiness (pruritus), followed |
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by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. |
OMIM |
243300 |
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Other general signs and symptoms that occur during these episodes include a |
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vague feeling of discomfort (malaise), irritability, nausea, vomiting, and a |
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OMIM |
605479 |
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lack of appetite. A common feature of BRIC is the reduced absorption of fat in |
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the body, which leads to excess fat in the feces (steatorrhea). Because of a |
SNOMED CT |
31155007 |
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lack of fat absorption and loss of appetite, affected individuals often lose |
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weight during episodes of cholestasis. |
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html:p |
BRIC is divided into two types, BRIC1 and BRIC2, based on the genetic cause of |
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the condition. The signs and symptoms are the same in both types. |
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html:p |
This condition is called benign because it does not cause lasting damage to the |
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liver. However, episodes of liver dysfunction occasionally develop into a more |
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severe, permanent form of liver disease known as progressive familial |
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intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be |
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part of a spectrum of intrahepatic cholestasis disorders of varying severity. |
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related-gene-list |
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| 175 |
Bernard-Soulier syndrome |
https://ghr.nlm.nih.gov/condition/bernard-soulier-syndrome |
Bernard-Soulier syndrome is estimated to occur in 1 in 1 million |
html:p |
Bernard-Soulier syndrome is a bleeding disorder associated with abnormal |
ad |
autosomal dominant |
GP1BA |
https://ghr.nlm.nih.gov/gene/GP1BA |
BDPLT1 |
db |
key |
2016-06 |
2017-12-29 |
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individuals; however, some doctors think the condition is underdiagnosed and may |
platelets, which are blood cell fragments involved in blood clotting. In |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
bleeding disorder, platelet-type, 1 |
GTR |
C0005129 |
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be more common. |
affected individuals, platelets are unusually large and fewer in number than |
ar |
autosomal recessive |
GP1BB |
https://ghr.nlm.nih.gov/gene/GP1BB |
BSS |
db |
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usual (a combination known as macrothrombocytopenia). People with |
related-gene |
gene-symbol |
ghr-page |
deficiency of platelet glycoprotein 1b |
MeSH |
D001606 |
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Bernard-Soulier syndrome tend to bruise easily and have an increased risk of |
GP9 |
https://ghr.nlm.nih.gov/gene/GP9 |
giant platelet syndrome |
db |
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nosebleeds (epistaxis). They may also experience abnormally heavy or prolonged |
glycoprotein Ib, platelet, deficiency of |
OMIM |
153670 |
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bleeding following minor injury or surgery or even without trauma (spontaneous |
hemorrhagioparous thrombocytic dystrophy |
db |
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bleeding). In some affected individuals, bleeding under the skin causes tiny red |
macrothrombocytopenia, familial Bernard-Soulier type |
OMIM |
231200 |
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or purple spots on the skin called petechiae. Women with Bernard-Soulier |
platelet glycoprotein Ib deficiency |
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syndrome often have heavy or prolonged menstrual periods (menorrhagia). |
von Willebrand factor receptor deficiency |
Orphanet |
274 |
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db |
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related-gene-list |
|
SNOMED CT |
54569005 |
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| 176 |
Beta-ketothiolase deficiency |
https://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency |
Beta-ketothiolase deficiency appears to be very rare. It is estimated to |
html:p |
Beta-ketothiolase deficiency is an inherited disorder in which the body cannot |
ar |
autosomal recessive |
ACAT1 |
https://ghr.nlm.nih.gov/gene/ACAT1 |
2-alpha-methyl-3-hydroxybutyricacidemia |
db |
key |
2008-01 |
2017-12-29 |
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Beta硫解酶缺乏症 |
affect fewer than 1 in 1 million newborns. |
effectively process a protein building block (amino acid) called isoleucine. |
3-alpha-ketothiolase deficiency |
GTR |
C1536500 |
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β-酮硫解酶缺乏症 |
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This disorder also impairs the body's ability to process ketones, which are |
3-alpha-ktd deficiency |
db |
key |
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molecules produced during the breakdown of fats. |
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3-alpha-oxothiolase deficiency |
MeSH |
D018901 |
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html:p |
The signs and symptoms of beta-ketothiolase deficiency typically appear between |
3-Ketothiolase deficiency |
db |
key |
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the ages of 6 months and 24 months. Affected children experience episodes of |
3-Methylhydroxybutyric acidemia |
OMIM |
203750 |
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vomiting, dehydration, difficulty breathing, extreme tiredness (lethargy), and, |
alpha-Methylacetoacetic aciduria |
db |
key |
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occasionally, seizures. These episodes, which are called ketoacidotic attacks, |
BKT |
Orphanet |
134 |
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sometimes lead to coma. Ketoacidotic attacks are frequently triggered by |
MAT deficiency |
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infections, periods without food (fasting), or increased intake of protein-rich |
Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency - potassium stimulated |
SNOMED CT |
124258007 |
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foods. |
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Mitochondrial acetoacetyl-CoA thiolase deficiency |
db |
key |
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T2 deficiency |
SNOMED CT |
124265004 |
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β-ketothiolase deficiency |
db |
key |
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related-gene-list |
|
SNOMED CT |
237953006 |
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| 177 |
Beta-mannosidosis |
https://ghr.nlm.nih.gov/condition/beta-mannosidosis |
Beta-mannosidosis is believed to be a very rare disorder. Approximately 20 |
html:p |
Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar |
ar |
autosomal recessive |
MANBA |
https://ghr.nlm.nih.gov/gene/MANBA |
beta-D-mannosidosis |
db |
key |
2008-01 |
2017-12-29 |
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affected individuals have been reported worldwide. It is difficult to determine |
molecules are processed in the body. |
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beta-mannosidase deficiency |
GTR |
C4048196 |
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the specific incidence of beta-mannosidosis, because people with mild or |
html:p |
Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of |
lysosomal beta A mannosidosis |
db |
key |
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non-specific symptoms may never be diagnosed. |
onset ranges between infancy and adolescence. Almost all individuals with |
lysosomal beta-mannosidase deficiency |
MeSH |
D044905 |
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beta-mannosidosis experience intellectual disability, and some have delayed |
db |
key |
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motor development and seizures. Affected individuals may be extremely |
|
OMIM |
248510 |
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introverted, prone to depression, or have behavioral problems such as |
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hyperactivity, impulsivity or aggression. |
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Orphanet |
118 |
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html:p |
People with beta-mannosidosis may experience an increased risk of respiratory |
db |
key |
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and ear infections, hearing loss, speech impairment, swallowing difficulties, |
SNOMED CT |
238047006 |
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poor muscle tone (hypotonia), and reduced sensation or other nervous system |
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abnormalities in the extremities (peripheral neuropathy). They may also exhibit |
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distinctive facial features and clusters of enlarged blood vessels forming |
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small, dark red spots on the skin (angiokeratomas). |
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related-gene-list |
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| 178 |
Beta-propeller protein-associated neurodegeneration |
https://ghr.nlm.nih.gov/condition/beta-propeller-protein-associated-neurodegener |
BPAN is a rare disorder. Its prevalence is unknown, but it is thought to |
html:p |
Beta-propeller protein-associated neurodegeneration (BPAN) is a disorder that |
xd |
X-linked dominant |
WDR45 |
https://ghr.nlm.nih.gov/gene/WDR45 |
BPAN |
db |
key |
2017-05 |
2017-12-29 |
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|
ation |
account for between 1 and 2 percent of all cases of NBIA disorders. About 100 |
damages the nervous system and is progressive, which means that it gradually |
NBIA5 |
GTR |
CN168656 |
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affected individuals have been described in the medical literature. Some |
gets worse. Affected individuals develop a buildup of iron in the brain that can |
neurodegeneration with brain iron accumulation 5 |
db |
key |
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individuals who have been diagnosed with intellectual disability or early-onset |
be seen with medical imaging. For this reason, BPAN is classified as a type of |
SENDA |
GeneReviews |
bpan |
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parkinsonism based on their signs and symptoms have later been found to have |
disorder called neurodegeneration with brain iron accumulation (NBIA), although |
static encephalopathy of childhood with neurodegeneration in adulthood |
db |
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BPAN when genetic testing was done. |
the iron accumulation may not occur until late in the disease. |
|
MeSH |
D020271 |
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html:p |
Many people with BPAN have recurrent seizures (epilepsy) beginning in infancy or |
db |
key |
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early childhood. Several different types of seizures can occur in this |
|
OMIM |
300894 |
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disorder, even in the same individual. Often the first type to occur are febrile |
db |
key |
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seizures, which are triggered by a high fever. Affected individuals can also |
Orphanet |
329284 |
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experience generalized tonic-clonic seizures (also known as grand mal seizures). |
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This type of seizure affects the entire body, causing muscle rigidity, |
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convulsions, and loss of consciousness. Other seizure types that can occur in |
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this disorder include short lapses in awareness that can have the appearance of |
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staring spells or daydreaming (absence seizures, also called petit mal |
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seizures), sudden episodes of weak muscle tone (atonic seizures), involuntary |
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muscle twitches (myoclonic seizures), or more pronounced movements called |
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epileptic spasms. Some individuals have seizure patterns that resemble those in |
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epileptic syndromes, such as West syndrome or Lennox-Gastaut syndrome. |
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html:p |
Children with BPAN also have intellectual disability, delayed development |
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including significant problems with vocabulary and producing speech (expressive |
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language), and difficulty coordinating movements (ataxia). Ataxia can affect the |
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ability to walk and perform fine motor skills such as using utensils. Affected |
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individuals can have behavioral changes that are often compared to features of a |
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disorder called Rett syndrome. These features include repeated hand wringing or |
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clasping (stereotypic hand movements); teeth grinding (bruxism); sleep |
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disturbances; and problems with communication and social interaction |
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characteristic of autism spectrum disorder. |
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html:p |
In late adolescence or early adulthood, individuals with BPAN may begin to |
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experience a gradual loss of intellectual functioning (cognitive decline) that |
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can lead to a severe loss of thinking and reasoning abilities (dementia). |
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Worsening problems with movement also occur, including dystonia and |
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parkinsonism. Dystonia is a condition characterized by involuntary, sustained |
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muscle contractions. In BPAN, the dystonia often starts in the arms. |
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Parkinsonism can include unusually slow movement (bradykinesia), rigidity, |
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tremors, an inability to hold the body upright and balanced (postural |
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instability), and a shuffling walk that can cause recurrent falls. |
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html:p |
The lifespan of people with BPAN varies. With proper management of their signs |
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and symptoms, affected individuals can live into middle age. Death may result |
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from complications of dementia or movement problems, such as injuries from falls |
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or swallowing difficulties (dysphagia) that can lead to a bacterial lung |
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infection called aspiration pneumonia. |
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related-gene-list |
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| 179 |
Beta thalassemia |
https://ghr.nlm.nih.gov/condition/beta-thalassemia |
Beta thalassemia is a fairly common blood disorder worldwide. Thousands |
html:p |
Beta thalassemia is a blood disorder that reduces the production of hemoglobin. |
ar |
autosomal recessive |
HBB |
https://ghr.nlm.nih.gov/gene/HBB |
erythroblastic anemia |
db |
key |
2015-09 |
2017-12-29 |
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乙型地中海貧血 |
of infants with beta thalassemia are born each year. Beta thalassemia occurs |
Hemoglobin is the iron-containing protein in red blood cells that carries |
Mediterranean anemia |
GTR |
C0005283 |
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most frequently in people from Mediterranean countries, North Africa, the Middle |
oxygen to cells throughout the body. |
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microcytemia, beta type |
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East, India, Central Asia, and Southeast Asia. |
html:p |
In people with beta thalassemia, low levels of hemoglobin lead to a lack of |
thalassemia, beta type |
GTR |
C1858990 |
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oxygen in many parts of the body. Affected individuals also have a shortage of |
db |
key |
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red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more |
GeneReviews |
b-thal |
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serious complications. People with beta thalassemia are at an increased risk |
db |
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of developing abnormal blood clots. |
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ICD-10-CM |
D56.1 |
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html:p |
Beta thalassemia is classified into two types depending on the severity of |
db |
key |
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symptoms: thalassemia major (also known as Cooley's anemia) and thalassemia |
MeSH |
D017086 |
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intermedia. Of the two types, thalassemia major is more severe. |
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html:p |
The signs and symptoms of thalassemia major appear within the first 2 years of |
OMIM |
603902 |
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life. Children develop life-threatening anemia. They do not gain weight and |
db |
key |
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grow at the expected rate (failure to thrive) and may develop yellowing of the |
OMIM |
613985 |
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skin and whites of the eyes (jaundice). Affected individuals may have an |
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enlarged spleen, liver, and heart, and their bones may be misshapen. Some |
Orphanet |
848 |
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adolescents with thalassemia major experience delayed puberty. Many people with |
db |
key |
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thalassemia major have such severe symptoms that they need frequent blood |
Orphanet |
231214 |
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transfusions to replenish their red blood cell supply. Over time, an influx of |
db |
key |
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iron-containing hemoglobin from chronic blood transfusions can lead to a buildup |
Orphanet |
231222 |
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of iron in the body, resulting in liver, heart, and hormone problems. |
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html:p |
Thalassemia intermedia is milder than thalassemia major. The signs and symptoms |
SNOMED CT |
111572002 |
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of thalassemia intermedia appear in early childhood or later in life. Affected |
db |
key |
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individuals have mild to moderate anemia and may also have slow growth and bone |
SNOMED CT |
15326009 |
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abnormalities. |
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db |
key |
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SNOMED CT |
191189009 |
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db |
key |
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SNOMED CT |
26682008 |
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db |
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SNOMED CT |
27080008 |
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db |
key |
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SNOMED CT |
39586009 |
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db |
key |
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SNOMED CT |
47084006 |
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db |
key |
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SNOMED CT |
5967006 |
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db |
key |
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SNOMED CT |
61395005 |
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db |
key |
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SNOMED CT |
65959000 |
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db |
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SNOMED CT |
716682000 |
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db |
key |
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SNOMED CT |
79592006 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
86715000 |
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| 180 |
Beta-ureidopropionase deficiency |
https://ghr.nlm.nih.gov/condition/beta-ureidopropionase-deficiency |
The prevalence of beta-ureidopropionase deficiency is unknown. A small |
html:p |
Beta-ureidopropionase deficiency is a disorder that causes excessive amounts of |
ar |
autosomal recessive |
UPB1 |
https://ghr.nlm.nih.gov/gene/UPB1 |
beta-alanine synthase deficiency |
db |
key |
2014-08 |
2017-12-29 |
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β-脲基丙酸酶缺乏症 |
number of affected individuals from populations around the world have been |
molecules called N-carbamyl-beta-aminoisobutyric acid and |
deficiency of beta-ureidopropionase |
GTR |
C1291512 |
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described in the medical literature. In Japan, the prevalence of |
N-carbamyl-beta-alanine to be released in the urine. Neurological problems |
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beta-ureidopropionase deficiency has been estimated as 1 in 6,000 people. |
ranging from mild to severe also occur in some affected individuals. |
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MeSH |
D011686 |
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Researchers suggest that in many affected individuals with absent or mild |
html:p |
People with beta-ureidopropionase deficiency can have low muscle tone |
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neurological problems, the condition may never be diagnosed. |
(hypotonia), seizures, speech difficulties, developmental delay, intellectual |
OMIM |
613161 |
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disability, and autistic behaviors that affect communication and social |
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interaction. Some people with this condition have an abnormally small head size |
Orphanet |
65287 |
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(microcephaly); they may also have brain abnormalities that can be seen with |
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medical imaging. Deterioration of the optic nerve, which carries visual |
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SNOMED CT |
124511000 |
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information from the eyes to the brain, can lead to vision loss in this |
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condition. |
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html:p |
In some people with beta-ureidopropionase deficiency, the disease causes no |
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neurological problems and can only be diagnosed by laboratory testing. |
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related-gene-list |
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| 181 |
Bietti crystalline dystrophy |
https://ghr.nlm.nih.gov/condition/bietti-crystalline-dystrophy |
Bietti crystalline dystrophy has been estimated to occur in 1 in 67,000 |
html:p |
Bietti crystalline dystrophy is a disorder in which numerous small, yellow or |
ar |
autosomal recessive |
CYP4V2 |
https://ghr.nlm.nih.gov/gene/CYP4V2 |
BCD |
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2012-11 |
2017-12-29 |
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Bietti晶體結晶樣角膜視網膜營養不良 |
people. It is more common in people of East Asian descent, especially those of |
white crystal-like deposits of fatty (lipid) compounds accumulate in the |
Bietti crystalline corneoretinal dystrophy |
GTR |
C1859486 |
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Bietti结晶样营养障碍 |
Chinese and Japanese background. Researchers suggest that Bietti crystalline |
light-sensitive tissue that lines the back of the eye (the retina). The deposits |
Bietti crystalline retinopathy |
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dystrophy may be underdiagnosed because its symptoms are similar to those of |
damage the retina, resulting in progressive vision loss. |
Bietti tapetoretinal degeneration with marginal corneal dystrophy |
GeneReviews |
bietti-cd |
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other eye disorders that progressively damage the retina. |
html:p |
People with Bietti crystalline dystrophy typically begin noticing vision |
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problems in their teens or twenties. They experience a loss of sharp vision |
MeSH |
D012162 |
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(reduction in visual acuity) and difficulty seeing in dim light (night |
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blindness). They usually lose areas of vision (visual field loss), most often |
OMIM |
210370 |
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side (peripheral) vision. Color vision may also be impaired. |
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html:p |
The vision problems may worsen at different rates in each eye, and the severity |
Orphanet |
41751 |
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and progression of symptoms varies widely among affected individuals, even |
db |
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within the same family. However, most people with this condition become legally |
SNOMED CT |
312927001 |
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blind by their forties or fifties. Most affected individuals retain some degree |
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of vision, usually in the center of the visual field, although it is typically |
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blurry and cannot be corrected by glasses or contact lenses. Vision impairment |
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that cannot be improved with corrective lenses is called low vision. |
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related-gene-list |
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| 182 |
Biotin-thiamine-responsive basal ganglia disease |
https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disea |
Biotin-thiamine-responsive basal ganglia disease is a rare disorder; its |
html:p |
Biotin-thiamine-responsive basal ganglia disease is a disorder that affects the |
ar |
autosomal recessive |
SLC19A3 |
https://ghr.nlm.nih.gov/gene/SLC19A3 |
BBGD |
db |
key |
2014-01 |
2017-12-29 |
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se |
prevalence is unknown. Approximately 48 cases have been reported in the medical |
nervous system, including a group of structures in the brain called the basal |
biotin-responsive basal ganglia disease |
GTR |
C1843807 |
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literature; most of these are individuals from Arab populations. |
ganglia, which help control movement. As its name suggests, the condition may |
BTBGD |
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improve if the vitamins biotin and thiamine are given as treatment. Without |
thiamine metabolism dysfunction syndrome 2 |
GeneReviews |
bgd-biotin |
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early and lifelong vitamin treatment, people with biotin-thiamine-responsive |
thiamine-responsive encephalopathy |
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basal ganglia disease experience a variety of neurological problems that |
thiamine transporter-2 deficiency |
MeSH |
D001480 |
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gradually get worse. The occurrence of specific neurological problems and their |
THMD2 |
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severity vary even among affected individuals within the same family. |
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OMIM |
607483 |
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html:p |
The signs and symptoms of biotin-thiamine-responsive basal ganglia disease |
db |
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usually begin between the ages of 3 and 10, but the disorder can appear at any |
SNOMED CT |
703522009 |
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age. Many of the neurological problems that can occur in |
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biotin-thiamine-responsive basal ganglia disease affect movement, and can |
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include involuntary tensing of various muscles (dystonia), muscle rigidity, |
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muscle weakness on one or both sides of the body (hemiparesis or quadriparesis), |
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problems coordinating movements (ataxia), and exaggerated reflexes |
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(hyperreflexia). Movement problems can also affect the face, and may include the |
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inability to move facial muscles due to facial nerve paralysis (supranuclear |
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facial palsy), paralysis of the eye muscles (external ophthalmoplegia), |
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difficulty chewing or swallowing (dysphagia), and slurred speech. Affected |
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individuals may also experience confusion, loss of previously learned skills, |
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intellectual disability, and seizures. Severe cases may result in coma and |
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become life-threatening. |
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html:p |
Typically, the neurological symptoms occur as increasingly severe episodes, |
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which may be triggered by fever, injury, or other stresses on the body. Less |
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commonly, the signs and symptoms persist at the same level or slowly increase in |
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severity over time rather than occurring as episodes that come and go. In these |
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individuals, the neurological problems are usually limited to dystonia, seizure |
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disorders, and delay in the development of mental and motor skills (psychomotor |
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delay). |
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related-gene-list |
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| 183 |
Biotinidase deficiency |
https://ghr.nlm.nih.gov/condition/biotinidase-deficiency |
Profound or partial biotinidase deficiency occurs in approximately 1 in |
html:p |
Biotinidase deficiency is an inherited disorder in which the body is unable to |
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autosomal recessive |
BTD |
https://ghr.nlm.nih.gov/gene/BTD |
BIOT |
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2014-12 |
2017-12-29 |
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生物素酶缺乏症 |
60,000 newborns |
recycle the vitamin biotin. If this condition is not recognized and treated, its |
BTD deficiency |
GTR |
C0220754 |
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signs and symptoms typically appear within the first few months of life, |
carboxylase deficiency, multiple, late-onset |
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although it can also become apparent later in childhood. |
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late-onset biotin-responsive multiple carboxylase deficiency |
GeneReviews |
biotin |
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html:p |
Profound biotinidase deficiency, the more severe form of the condition, can |
late-onset multiple carboxylase deficiency |
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cause seizures, weak muscle tone (hypotonia), breathing problems, hearing and |
multiple carboxylase deficiency, late-onset |
ICD-10-CM |
D81.810 |
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vision loss, problems with movement and balance (ataxia), skin rashes, hair loss |
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(alopecia), and a fungal infection called candidiasis. Affected children also |
MeSH |
D028921 |
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have delayed development. Lifelong treatment can prevent these complications |
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from occurring or improve them if they have already developed. |
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OMIM |
253260 |
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html:p |
Partial biotinidase deficiency is a milder form of this condition. Without |
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treatment, affected children may experience hypotonia, skin rashes, and hair |
Orphanet |
148 |
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loss, but these problems may appear only during illness, infection, or other |
db |
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times of stress. |
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SNOMED CT |
8808004 |
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Biotin-thiamine-responsive basal ganglia disease |
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synonym-list |
db-key-list |
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| 184 |
Bipolar disorder |
https://ghr.nlm.nih.gov/condition/bipolar-disorder |
Bipolar disorder is a common form of mental illness. At some point during |
html:p |
Bipolar disorder is a mental health condition that causes extreme shifts in |
u |
pattern unknown |
synonym |
bipolar affective psychosis |
key |
2017-12-29 |
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躁鬱症 |
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their lifetime, 2.4 percent of people worldwide and 4.4 percent of people in the |
mood, energy, and behavior. This disorder most often appears in late adolescence |
synonym |
bipolar spectrum disorder |
db-key |
C1839839 |
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双相情感障碍 |
United States are diagnosed with this condition. |
or early adulthood, although symptoms can begin at any time of life. |
synonym |
depression, bipolar |
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早期稱為躁狂抑鬱 |
html:p |
People with bipolar disorder experience both dramatic "highs," called manic |
synonym |
manic depressive illness |
db-key |
C1852197 |
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episodes, and "lows," called depressive episodes. These episodes can last from |
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hours to weeks, and many people have no symptoms between episodes. Manic |
db-key |
C1864994 |
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episodes are characterized by increased energy and activity, irritability, |
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restlessness, an inability to sleep, and reckless behavior. Depressive episodes |
db-key |
C1970943 |
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are marked by low energy and activity, a feeling of hopelessness, and an |
key |
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inability to perform everyday tasks. People with bipolar disorder often have |
db-key |
C1970944 |
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repeated thoughts of death and suicide, and they have a much greater risk of |
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dying by suicide than the general population. |
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C1970945 |
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html:p |
Manic and depressive episodes can include psychotic symptoms, such as false |
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perceptions (hallucinations) or strongly held false beliefs (delusions). Mixed |
db-key |
C2700438 |
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episodes, which have features of manic and depressive episodes at the same time, |
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also occur in some affected individuals. |
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db-key |
C2700439 |
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html:p |
Bipolar disorder often occurs with other mental health conditions, including |
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anxiety disorders (such as panic attacks), behavioral disorders (such as |
db-key |
C2700440 |
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attention-deficit hyperactivity disorder), and substance abuse. |
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db-key |
F31 |
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db-key |
F31.0 |
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db-key |
F31.1 |
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db-key |
F31.2 |
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db-key |
F31.3 |
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db-key |
F31.4 |
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db-key |
F31.5 |
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db-key |
F31.6 |
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db-key |
F31.7 |
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key |
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db-key |
F31.8 |
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db-key |
F31.9 |
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db-key |
F31.10 |
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db-key |
F31.11 |
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db-key |
F31.12 |
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db-key |
F31.13 |
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db-key |
F31.30 |
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db-key |
F31.31 |
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db-key |
F31.32 |
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db-key |
F31.60 |
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db-key |
F31.61 |
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db-key |
F31.62 |
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db-key |
F31.63 |
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db-key |
F31.64 |
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db-key |
F31.70 |
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db-key |
F31.71 |
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db-key |
F31.72 |
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db-key |
F31.73 |
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db-key |
F31.74 |
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db-key |
F31.75 |
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db-key |
F31.76 |
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db-key |
F31.77 |
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db-key |
F31.78 |
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db-key |
F31.81 |
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db-key |
F31.89 |
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db-key |
D001714 |
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db-key |
125480 |
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db-key |
309200 |
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db-key |
609633 |
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db-key |
611247 |
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key |
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db-key |
611535 |
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db-key |
611536 |
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db-key |
612357 |
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db-key |
612371 |
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db-key |
612372 |
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related-gene-list |
13746004 |
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| 185 |
Birt-Hogg-Dubé syndrome |
https://ghr.nlm.nih.gov/condition/birt-hogg-dube-syndrome |
Birt-Hogg-Dubé syndrome is rare; its exact incidence is unknown. This |
html:p |
Birt-Hogg-Dubé syndrome is a rare disorder that affects the skin and lungs and |
ad |
autosomal dominant |
FLCN |
https://ghr.nlm.nih.gov/gene/FLCN |
BHD |
db |
key |
2013-01 |
2017-12-29 |
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比爾特霍格杜貝症候群 |
condition has been reported in more than 400 families. |
increases the risk of certain types of tumors. Its signs and symptoms vary among |
fibrofolliculomas with trichodiscomas and acrochordons |
GTR |
C0346010 |
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(Cancer) |
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affected individuals. |
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Hornstein-Birt-Hogg-Dubé syndrome |
db |
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html:p |
Birt-Hogg-Dubé syndrome is characterized by multiple noncancerous (benign) skin |
Hornstein-Knickenberg syndrome |
GeneReviews |
bhd |
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tumors, particularly on the face, neck, and upper chest. These growths typically |
db |
key |
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first appear in a person's twenties or thirties and become larger and more |
MeSH |
D058249 |
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numerous over time. Affected individuals also have an increased chance of |
db |
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developing cysts in the lungs and an abnormal accumulation of air in the chest |
OMIM |
135150 |
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cavity (pneumothorax) that may result in the collapse of a lung. Additionally, |
db |
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Birt-Hogg-Dubé syndrome is associated with an elevated risk of developing |
Orphanet |
122 |
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cancerous or noncancerous kidney tumors. Other types of cancer have also been |
db |
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reported in affected individuals, but it is unclear whether these tumors are |
SNOMED CT |
110985001 |
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actually a feature of Birt-Hogg-Dubé syndrome. |
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related-gene-list |
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| 186 |
Björnstad syndrome |
https://ghr.nlm.nih.gov/condition/bjornstad-syndrome |
Björnstad syndrome is a rare condition, although its prevalence is unknown. |
html:p |
Björnstad syndrome is a rare disorder characterized by abnormal hair and hearing |
ar |
autosomal recessive |
BCS1L |
https://ghr.nlm.nih.gov/gene/BCS1L |
Bjornstad syndrome |
db |
key |
2014-03 |
2017-12-29 |
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It has been found in populations worldwide. |
problems. Affected individuals have a condition known as pili torti, which |
BJS |
GTR |
C0266006 |
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means "twisted hair," so named because the strands appear twisted when viewed |
deafness and pili torti, Bjornstad type |
db |
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under a microscope. The hair is brittle and breaks easily, leading to short hair |
pili torti and nerve deafness |
MeSH |
D028361 |
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that grows slowly. In Björnstad syndrome, pili torti usually affects only the |
pili torti-deafness syndrome |
db |
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hair on the head; eyebrows, eyelashes, and hair on other parts of the body are |
pili torti-sensorineural hearing loss |
OMIM |
262000 |
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normal. The proportion of hairs affected and the severity of brittleness and |
PTD |
db |
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breakage can vary. This hair abnormality commonly begins before the age of 2. It |
Orphanet |
123 |
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may become milder with age, particularly after puberty. |
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html:p |
People with Björnstad syndrome also have hearing problems that become evident |
Orphanet |
2889 |
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in early childhood. The hearing loss, which is caused by changes in the inner |
db |
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ear (sensorineural deafness), can range from mild to severe. Mildly affected |
SNOMED CT |
67817003 |
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individuals may be unable to hear sounds at certain frequencies, while severely |
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affected individuals may not be able to hear at all. |
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related-gene-list |
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| 187 |
Bladder cancer |
https://ghr.nlm.nih.gov/condition/bladder-cancer |
In the United States, bladder cancer is the fourth most common type of |
html:p |
Bladder cancer is a disease in which certain cells in the bladder become |
n |
not inherited |
FGFR3 |
https://ghr.nlm.nih.gov/gene/FGFR3 |
Cancer of the bladder |
db |
key |
2007-01 |
2017-12-29 |
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cancer in men and the ninth most common cancer in women. About 45,000 men and |
abnormal and multiply without control or order. The bladder is a hollow, |
related-gene |
gene-symbol |
ghr-page |
Malignant tumor of urinary bladder |
GTR |
C0005684 |
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17,000 women are diagnosed with bladder cancer each year. |
muscular organ in the lower abdomen that stores urine until it is ready to be |
HRAS |
https://ghr.nlm.nih.gov/gene/HRAS |
Urinary bladder cancer |
db |
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excreted from the body. The most common type of bladder cancer begins in cells |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
C67 |
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lining the inside of the bladder and is called transitional cell carcinoma |
RB1 |
https://ghr.nlm.nih.gov/gene/RB1 |
db |
key |
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(TCC). |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
C67.0 |
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html:p |
Bladder cancer may cause blood in the urine, pain during urination, frequent |
TP53 |
https://ghr.nlm.nih.gov/gene/TP53 |
db |
key |
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urination, or the feeling that one needs to urinate without results. These signs |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
C67.1 |
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and symptoms are not specific to bladder cancer, however. They also can be |
TSC1 |
https://ghr.nlm.nih.gov/gene/TSC1 |
db |
key |
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caused by noncancerous conditions such as infections. |
related-chromosome |
name |
ghr-page |
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ICD-10-CM |
C67.2 |
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9 |
https://ghr.nlm.nih.gov/chromosome/9 |
db |
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ICD-10-CM |
C67.3 |
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db |
key |
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ICD-10-CM |
C67.4 |
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ICD-10-CM |
C67.5 |
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ICD-10-CM |
C67.6 |
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ICD-10-CM |
C67.7 |
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db |
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ICD-10-CM |
C67.8 |
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db |
key |
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ICD-10-CM |
C67.9 |
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db |
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ICD-10-CM |
D09.0 |
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db |
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MeSH |
D001749 |
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db |
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OMIM |
109800 |
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db |
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Orphanet |
157980 |
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db |
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SNOMED CT |
126885006 |
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db |
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SNOMED CT |
255108000 |
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db |
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related-gene-list |
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SNOMED CT |
399326009 |
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| 188 |
Blau syndrome |
https://ghr.nlm.nih.gov/condition/blau-syndrome |
Although Blau syndrome appears to be uncommon, its prevalence is unknown. |
html:p |
Blau syndrome is an inflammatory disorder that primarily affects the skin, |
ad |
autosomal dominant |
NOD2 |
https://ghr.nlm.nih.gov/gene/NOD2 |
arthrocutaneouveal granulomatosis |
db |
key |
2017-12 |
2017-12-29 |
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joints, and eyes. Signs and symptoms begin in childhood, usually before age 4. |
early-onset sarcoidosis |
GTR |
C1836122 |
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html:p |
A form of skin inflammation called granulomatous dermatitis is typically the |
familial granulomatosis, Blau type |
db |
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earliest sign of Blau syndrome. This skin condition causes a persistent rash |
familial juvenile systemic granulomatosis |
GTR |
C1861303 |
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that can be scaly or involve hard lumps (nodules) that can be felt under the |
granulomatous inflammatory arthritis, dermatitis, and uveitis, familial |
db |
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skin. The rash is usually found on the torso, arms, and legs. |
pediatric granulomatous arthritis |
MeSH |
D012507 |
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html:p |
Arthritis is another common feature of Blau syndrome. In affected individuals, |
db |
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arthritis is characterized by inflammation of the lining of joints (the |
|
OMIM |
186580 |
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synovium). This inflammation, known as synovitis, is associated with swelling |
db |
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and joint pain. Synovitis usually begins in the joints of the hands, feet, |
|
Orphanet |
90340 |
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wrists, and ankles. As the condition worsens, it can involve additional joints |
db |
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and restrict movement by decreasing the range of motion in many joints. |
|
SNOMED CT |
699861000 |
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html:p |
Most people with Blau syndrome also develop uveitis, which is swelling and |
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inflammation of the middle layer of the eye (the uvea). The uvea includes the |
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colored portion of the eye (the iris) and related tissues that underlie the |
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white part of the eye (the sclera). Uveitis can cause eye irritation and pain, |
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increased sensitivity to bright light (photophobia), and blurred vision. Other |
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structures in the eye can also become inflamed, including the outermost |
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protective layer of the eye (the conjunctiva), the tear glands, the specialized |
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light-sensitive tissue that lines the back of the eye (the retina), and the |
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nerve that carries information from the eye to the brain (the optic nerve). |
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Inflammation of any of these structures can lead to severe vision impairment or |
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blindness. |
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html:p |
Some individuals with Blau syndrome develop kidney disease (nephritis) due to |
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inflammation. They may also have deposits of calcium in the kidneys |
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(nephrocalcinosis) and often develop chronic kidney failure. Inflammation of |
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blood vessels (vasculitis) can cause scarring and tissue death in the vessels |
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and impedes blood flow to tissues and organs. |
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html:p |
Less commonly, Blau syndrome can affect other parts of the body, including the |
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liver, spleen, salivary gland, brain, blood vessels, lungs, and heart. |
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Inflammation involving these organs and tissues can impair their function and |
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cause life-threatening complications. Rarely, affected individuals have episodes |
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of fever or high blood pressure in the blood vessels that carry blood from the |
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heart to the lungs (pulmonary hypertension). |
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related-gene-list |
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| 189 |
Blepharocheilodontic syndrome |
https://ghr.nlm.nih.gov/condition/blepharocheilodontic-syndrome |
BCD syndrome is a rare disorder; its prevalence is unknown. At least 50 |
html:p |
Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It |
ad |
autosomal dominant |
CDH1 |
https://ghr.nlm.nih.gov/gene/CDH1 |
BCD syndrome |
db |
key |
2017-08 |
2017-12-29 |
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affected individuals have been described in the medical literature. |
mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth |
related-gene |
gene-symbol |
ghr-page |
BCDS |
MeSH |
D000015 |
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(-dontic). |
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CTNND1 |
https://ghr.nlm.nih.gov/gene/CTNND1 |
blepharo-cheilo-dontic syndrome |
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html:p |
People with BCD syndrome have lower eyelids that turn out so that the inner |
blepharo-cheilo-odontic syndrome |
OMIM |
119580 |
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surface is exposed (ectropion). The outside of the lower lid may sag away from |
clefting, ectropion, and conical teeth |
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the eye (euryblepharon), and the eyelids may not be able to close completely |
ectropion, inferior, with cleft lip and/or palate |
SNOMED CT |
717911008 |
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(lagophthalmia). There can be extra eyelashes (distichiasis) on the upper |
Elschnig syndrome |
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eyelids, ranging from a few extra eyelashes to a full extra set. These eyelashes |
lagophthalmia with bilateral cleft lip and palate |
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do not grow along the edge of the eyelid with the normal lashes, but out of its |
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inner lining. When the abnormal eyelashes touch the eyeball, they can cause |
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damage to the clear covering of the eye (cornea). Affected individuals may also |
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have widely spaced eyes (hypertelorism), a flat face, and a high forehead. |
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html:p |
Other features of BCD syndrome usually include openings on both sides of the |
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upper lip (bilateral cleft lip) and an opening in the roof of the mouth (cleft |
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palate). Affected individuals may have fewer teeth than normal (oligodontia) and |
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their teeth are often smaller than usual and cone-shaped. The dental |
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abnormalities affect both primary teeth (sometimes called "baby teeth") and |
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secondary (permanent) teeth. Other frequent features include sparse, fine hair |
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and abnormal nails. |
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html:p |
Occasionally people with BCD syndrome have additional features, including an |
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obstruction of the anal opening (imperforate anus); malformation or absence of |
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the butterfly-shaped gland in the lower neck called the thyroid, resulting in |
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lack of thyroid gland function; or fused fingers or toes (syndactyly). Very |
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rarely, affected individuals have incompletely formed arms or legs (limb |
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reduction defects) or a spinal cord abnormality known as spina bifida. |
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related-gene-list |
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| 190 |
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) |
https://ghr.nlm.nih.gov/condition/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome |
The prevalence of BPES is unknown. |
html:p |
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a condition |
ad |
autosomal dominant |
FOXL2 |
https://ghr.nlm.nih.gov/gene/FOXL2 |
blepharophimosis syndrome |
db |
key |
2013-10 |
2017-12-29 |
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先天性瞼口狹小症 |
s-syndrome |
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that mainly affects development of the eyelids. People with this condition have |
blepharophimosis, ptosis, and epicanthus inversus |
GTR |
C0220663 |
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a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and |
BPES |
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an upward fold of the skin of the lower eyelid near the inner corner of the eye |
GeneReviews |
bpes |
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(epicanthus inversus). In addition, there is an increased distance between the |
db |
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inner corners of the eyes (telecanthus). Because of these eyelid abnormalities, |
MeSH |
D005141 |
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the eyelids cannot open fully, and vision may be limited. |
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html:p |
Other structures in the eyes and face may be mildly affected by BPES. Affected |
OMIM |
110100 |
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individuals are at an increased risk of developing vision problems such as |
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nearsightedness (myopia) or farsightedness (hyperopia) beginning in childhood. |
Orphanet |
126 |
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They may also have eyes that do not point in the same direction (strabismus) or |
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"lazy eye" (amblyopia) affecting one or both eyes. People with BPES may also |
SNOMED CT |
79833006 |
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have distinctive facial features including a broad nasal bridge, low-set ears, |
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or a shortened distance between the nose and upper lip (a short philtrum). |
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html:p |
There are two types of BPES, which are distinguished by their signs and |
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symptoms. Both types I and II include the eyelid malformations and other facial |
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features. Type I is also associated with an early loss of ovarian function |
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(primary ovarian insufficiency) in women, which causes their menstrual periods |
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to become less frequent and eventually stop before age 40. Primary ovarian |
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insufficiency can lead to difficulty conceiving a child (subfertility) or a |
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complete inability to conceive (infertility). |
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related-gene-list |
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| 191 |
Bloom syndrome |
https://ghr.nlm.nih.gov/condition/bloom-syndrome |
Bloom syndrome is a rare disorder. Only a few hundred affected individuals |
html:p |
Bloom syndrome is an inherited disorder characterized by short stature, a skin |
ar |
autosomal recessive |
BLM |
https://ghr.nlm.nih.gov/gene/BLM |
Bloom-Torre-Machacek syndrome |
db |
key |
2015-04 |
2017-12-29 |
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布盧姆綜合徵 |
have been described in the medical literature, about one-third of whom are of |
rash that develops after exposure to the sun, and a greatly increased risk of |
Bloom's syndrome |
GTR |
C0005859 |
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Central and Eastern European (Ashkenazi) Jewish background. |
cancer. |
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congenital telangiectatic erythema |
db |
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html:p |
People with Bloom syndrome are usually smaller than 97 percent of the population |
GeneReviews |
bloom |
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in both height and weight from birth, and they rarely exceed 5 feet tall in |
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adulthood. |
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MeSH |
D001816 |
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html:p |
Affected individuals have skin that is sensitive to sun exposure, and they |
db |
key |
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usually develop a butterfly-shaped patch of reddened skin across the nose and |
OMIM |
210900 |
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cheeks. A skin rash can also appear on other areas that are typically exposed to |
db |
key |
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the sun, such as the back of the hands and the forearms. Small clusters of |
Orphanet |
125 |
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enlarged blood vessels (telangiectases) often appear in the rash; telangiectases |
db |
key |
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can also occur in the eyes. Other skin features include patches of skin that |
SNOMED CT |
4434006 |
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are lighter or darker than the surrounding areas (hypopigmentation or |
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hyperpigmentation respectively). These patches appear on areas of the skin that |
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are not exposed to the sun, and their development is not related to the rashes. |
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People with Bloom syndrome have an increased risk of cancer. They can develop |
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any type of cancer, but the cancers arise earlier in life than they do in the |
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general population, and affected individuals often develop more than one type of |
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cancer. |
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html:p |
Individuals with Bloom syndrome have a high-pitched voice and distinctive facial |
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features including a long, narrow face; a small lower jaw; and prominent nose |
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and ears. Other features can include learning disabilities, an increased risk of |
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diabetes, chronic obstructive pulmonary disease (COPD), and mild immune system |
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abnormalities leading to recurrent infections of the upper respiratory tract, |
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ears, and lungs during infancy. Men with Bloom syndrome usually do not produce |
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sperm and as a result are unable to father children (infertile). Women with the |
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disorder generally have reduced fertility and experience menopause at an earlier |
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age than usual. |
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related-gene-list |
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| 192 |
Bohring-Opitz syndrome |
https://ghr.nlm.nih.gov/condition/bohring-opitz-syndrome |
Bohring-Opitz syndrome is thought to be a rare condition, although its |
html:p |
Bohring-Opitz syndrome is a rare condition that affects the development of many |
ad |
autosomal dominant |
ASXL1 |
https://ghr.nlm.nih.gov/gene/ASXL1 |
Bohring syndrome |
db |
key |
2016-12 |
2017-12-29 |
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exact prevalence is unknown. More than 40 affected individuals have been |
parts of the body. |
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BOPS |
GTR |
C0796232 |
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described in the scientific literature. |
html:p |
People with Bohring-Opitz syndrome have abnormal development of the head. They |
C-like syndrome |
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key |
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often have a small head size (microcephaly) and a skull abnormality called |
Oberklaid-Danks syndrome |
MeSH |
D003398 |
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trigonocephaly, which gives the forehead a pointed appearance. Brain |
Opitz trigonocephaly-like syndrome |
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abnormalities result in profound to severe intellectual disability and |
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MeSH |
D008607 |
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developmental delay in affected individuals. Many people with this condition |
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experience seizures. |
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OMIM |
605039 |
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html:p |
Characteristic eye problems occur in people with Bohring-Opitz syndrome. They |
db |
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may have protruding eyes (exophthalmos), eyes that do not point in the same |
Orphanet |
97297 |
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direction (strabismus), widely spaced eyes (hypertelorism), or outside corners |
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of the eyes that point upward (upslanting palpebral fissures). Affected |
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SNOMED CT |
720565000 |
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individuals may have nearsightedness (myopia) or abnormalities in the |
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light-sensitive tissue at the back of the eye (the retina) or the nerves that |
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carry information from the eyes to the brain (optic nerves), which can impair |
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vision. |
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html:p |
Additional facial features of Bohring-Opitz syndrome can include a flat nasal |
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bridge, nostrils that open to the front rather than downward (anteverted nares), |
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a high arch or opening in the roof of the mouth (high arched or cleft palate), |
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a small lower jaw (micrognathia), low-set ears that are rotated backward, a red |
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birthmark called a port-wine stain on the forehead, and a low frontal hairline |
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with excessive facial hair (hirsutism). |
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html:p |
Individuals with Bohring-Opitz syndrome have poor growth before birth |
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(intrauterine growth retardation). During infancy they experience a failure to |
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gain weight and grow at the expected rate (failure to thrive) and often have |
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feeding difficulties. |
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html:p |
People with this condition often have characteristic positioning of the upper |
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body, known as Bohring-Opitz syndrome posture. This posture consists of |
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slouching shoulders, permanently bent elbows and wrists, and a hand deformity in |
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which the wrist or all of the fingers are angled outward toward the fifth |
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finger (ulnar deviation). Joint deformities called contractures in the knees, |
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hips, or other joints that are apparent at birth and abnormal muscle tone may |
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also occur in this condition. Affected individuals can have recurrent infections |
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and heart, kidney, or genital abnormalities. In rare cases, a childhood form of |
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kidney cancer known as Wilms tumor can develop. |
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html:p |
Some individuals with Bohring-Opitz syndrome do not survive past early |
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childhood, while others live into adolescence or early adulthood. The most |
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common causes of death are recurrent episodes of an abnormally slow heartbeat |
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(bradycardia), which eventually leads to a fatal lack of oxygen in the body's |
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organs and tissues; abnormalities of the throat and airways that cause short |
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pauses in breathing (obstructive apnea); and lung infections. |
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related-gene-list |
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| 193 |
Boomerang dysplasia |
https://ghr.nlm.nih.gov/condition/boomerang-dysplasia |
Boomerang dysplasia is a rare disorder; its exact prevalence is unknown. |
html:p |
Boomerang dysplasia is a disorder that affects the development of bones |
ad |
autosomal dominant |
FLNB |
https://ghr.nlm.nih.gov/gene/FLNB |
Piepkorn dysplasia |
db |
key |
2011-09 |
2017-12-29 |
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迴旋鏢發育不良 |
Approximately 10 affected individuals have been identified. |
throughout the body. Affected individuals are born with inward- and |
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GTR |
C0432201 |
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upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. |
db |
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Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some |
GeneReviews |
flnb-dis |
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cases absent. As a result of the limb bone abnormalities, individuals with this |
db |
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condition have very short arms and legs. Pronounced bowing of the upper leg |
MeSH |
D010009 |
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bones (femurs) gives them a "boomerang" shape. |
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html:p |
Some individuals with boomerang dysplasia have a sac-like protrusion of the |
OMIM |
112310 |
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brain (encephalocele). They may also have an opening in the wall of the abdomen |
db |
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(an omphalocele) that allows the abdominal organs to protrude through the navel. |
Orphanet |
1263 |
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Affected individuals typically have a distinctive nose that is broad with very |
db |
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small nostrils and an underdeveloped partition between the nostrils (septum). |
SNOMED CT |
254054000 |
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html:p |
Individuals with boomerang dysplasia typically have an underdeveloped rib cage |
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that affects the development and functioning of the lungs. As a result, affected |
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individuals are usually stillborn or die shortly after birth from respiratory |
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failure. |
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related-gene-list |
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| 194 |
Bosma arhinia microphthalmia syndrome |
https://ghr.nlm.nih.gov/condition/bosma-arhinia-microphthalmia-syndrome |
BAMS is a very rare condition with an unknown prevalence. Fewer than 100 |
html:p |
Bosma arhinia microphthalmia syndrome (BAMS) is a rare condition characterized |
ad |
autosomal dominant |
SMCHD1 |
https://ghr.nlm.nih.gov/gene/SMCHD1 |
arhinia choanal atresia microphthalmia |
db |
key |
2017-07 |
2017-12-29 |
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cases of the condition have been described in the medical literature. BAMS has |
by abnormalities of the nose and eyes and problems with puberty. |
arhinia, choanal atresia, and microphthalmia |
GTR |
C1863878 |
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been found in several different populations. |
html:p |
The key feature of BAMS is arhinia, which is the absence of an external nose. |
arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism |
db |
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While most people with BAMS are born without a nose, some affected individuals |
BAM syndrome |
MeSH |
D000015 |
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have a severely underdeveloped (hypoplastic) nose. Affected individuals may also |
BAMS |
db |
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be missing the brain structure involved in the sense of smell (olfactory bulb). |
Bosma syndrome |
OMIM |
603457 |
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Because of these abnormalities, people with BAMS have an impaired ability to |
Gifford-Bosma syndrome |
db |
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smell and, consequently, to taste. |
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Ruprecht Majewski syndrome |
Orphanet |
1135 |
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html:p |
In most people with BAMS, the eyeballs are abnormally small (microphthalmia) or |
db |
key |
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absent (anophthalmia), which causes severe vision impairment or blindness. |
SNOMED CT |
720511000 |
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Additional eye abnormalities common in BAMS include a gap or hole in one of |
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several structures of the eye (coloboma) and clouding of the lenses of the eyes |
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(cataracts). |
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html:p |
Additional head and face abnormalities that can occur in people with BAMS |
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include a high arch or opening in the roof of the mouth (high-arched or cleft |
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palate), absence of the sinuses behind the nose (paranasal sinuses), blockage of |
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the nasal passages (choanal atresia), narrowing of the tear ducts (nasolacrimal |
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duct stenosis), or a small upper jaw (hypoplastic maxilla). Many of these |
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abnormalities contribute to difficulty breathing, particularly in affected |
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babies. Some affected individuals have abnormal external ears. |
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html:p |
Individuals with BAMS also have hypogonadotropic hypogonadism, which is a |
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condition caused by reduced production of hormones that direct sexual |
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development. Without treatment, these hormone problems often result in delayed |
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puberty. Affected males may also have underdeveloped reproductive tissues and |
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undescended testes (cryptorchidism). |
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inheritance-pattern-list |
related-gene-list |
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| 195 |
Boucher-Neuhäuser syndrome |
https://ghr.nlm.nih.gov/condition/boucher-neuhauser-syndrome |
Boucher-Neuhäuser syndrome is a rare condition. Its prevalence is unknown. |
html:p |
Boucher-Neuhäuser syndrome is a rare disorder that affects movement, vision, and |
ar |
autosomal recessive |
PNPLA6 |
synonym |
db-key |
db |
key |
2016-10 |
2017-12-29 |
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sexual development. It is part of a continuous spectrum of neurological |
synonym |
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GTR |
C1859093 |
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html:i |
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synonym |
db-key |
db |
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PNPLA6 |
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synonym |
|
GeneReviews |
pnpla6-dis |
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synonym |
db-key |
db |
key |
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MeSH |
D052439 |
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html:p |
Ataxia describes difficulty with coordination and balance. In Boucher-Neuhäuser |
synonym |
db-key |
db |
key |
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syndrome, it arises from a loss of cells (atrophy) in the part of the brain |
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OMIM |
215470 |
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involved in coordinating movements (the cerebellum). Affected individuals have |
db-key |
db |
key |
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an unsteady walking style (gait) and frequent falls. |
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Orphanet |
1180 |
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html:p |
Another key feature of Boucher-Neuhäuser syndrome is hypogonadotropic |
db-key |
db |
key |
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hypogonadism, which is a condition affecting the production of hormones that |
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SNOMED CT |
715984007 |
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direct sexual development. Affected individuals have a delay in development of |
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the typical signs of puberty, such as the growth of facial hair and deepening of |
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the voice in males, and the start of monthly periods (menstruation) and breast |
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development in females. Other hormone abnormalities lead to short stature in |
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some affected individuals. |
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The third characteristic feature of Boucher-Neuhäuser syndrome is eye |
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abnormalities, most commonly chorioretinal dystrophy. Chorioretinal dystrophy |
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refers to problems with the light-sensitive tissue that lines the back of the |
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eye (the retina) and a nearby tissue layer called the choroid. These eye |
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abnormalities lead to impaired vision. People with Boucher-Neuhäuser syndrome |
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can also have abnormal eye movements, including involuntary side-to-side |
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movements of the eyes (nystagmus). |
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html:p |
The key features of Boucher-Neuhäuser syndrome can begin anytime from infancy to |
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adulthood, although at least one feature usually occurs by adolescence. Ataxia |
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is often the initial symptom of the disorder, but vision problems or delayed |
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puberty can be the earliest finding. Vision and movement problems worsen slowly |
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throughout life and can result in blindness or the need for a wheelchair for |
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mobility in the most severely affected individuals. |
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html:p |
People with Boucher-Neuhäuser syndrome can have additional medical problems, |
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including muscle stiffness (spasticity); impaired speech (dysarthria); and |
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difficulty processing, learning, or remembering information (cognitive |
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impairment). |
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related-gene-list |
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| 196 |
Bowen-Conradi syndrome |
https://ghr.nlm.nih.gov/condition/bowen-conradi-syndrome |
Bowen-Conradi syndrome is common in the Hutterite population in Canada and |
html:p |
Bowen-Conradi syndrome is a disorder that affects many parts of the body and is |
ar |
autosomal recessive |
EMG1 |
https://ghr.nlm.nih.gov/gene/EMG1 |
Bowen-Conradi Hutterite syndrome |
db |
key |
2015-02 |
2017-12-29 |
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the United States; it occurs in approximately 1 per 355 newborns in all three |
usually fatal in infancy. Affected individuals have a low birth weight, |
Bowen Hutterite syndrome |
GTR |
C1859405 |
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Hutterite sects (leuts). A few individuals from outside the Hutterite community |
experience feeding problems, and grow very slowly. Their head is unusually small |
Bowen syndrome, Hutterite type |
db |
key |
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with signs and symptoms similar to Bowen-Conradi syndrome have been described in |
overall (microcephaly), but is longer than expected compared with its width |
BWCNS |
MeSH |
D000015 |
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the medical literature. Researchers differ as to whether these individuals have |
(dolichocephaly). Characteristic facial features include a prominent, |
Hutterite syndrome |
db |
key |
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Bowen-Conradi syndrome or a similar but distinct disorder. |
high-bridged nose and an unusually small jaw (micrognathia) and chin. Affected |
OMIM |
211180 |
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individuals typically have pinky fingers that are curved toward or away from the |
db |
key |
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ring finger (fifth finger clinodactyly) or permanently flexed (camptodactyly), |
Orphanet |
1270 |
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feet with soles that are rounded outward (rocker-bottom feet), and restricted |
db |
key |
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joint movement. |
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SNOMED CT |
711153001 |
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html:p |
Other features that occur in some affected individuals include seizures; |
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structural abnormalities of the kidneys, heart, brain, or other organs; and an |
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opening in the lip (cleft lip) with or without an opening in the roof of the |
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mouth (cleft palate). Affected males may have the opening of the urethra on the |
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underside of the penis (hypospadias) or undescended testes (cryptorchidism). |
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html:p |
Babies with Bowen-Conradi syndrome do not achieve developmental milestones such |
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as smiling or sitting, and they usually do not survive more than 6 months. |
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related-gene-list |
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| 197 |
Bradyopsia |
https://ghr.nlm.nih.gov/condition/bradyopsia |
Bradyopsia appears to be rare. Only a few affected individuals worldwide |
html:p |
Bradyopsia is a rare condition that affects vision. The term "bradyopsia" is |
ar |
autosomal recessive |
RGS9 |
https://ghr.nlm.nih.gov/gene/RGS9 |
PERRS |
db |
key |
2014-11 |
2017-12-29 |
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运动视觉障碍 |
have been described in the medical literature. |
from the Greek words for slow vision. In affected individuals, the eyes adapt |
related-gene |
gene-symbol |
ghr-page |
prolonged electroretinal response suppression |
GTR |
C1842073 |
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(Vision) |
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more slowly than usual to changing light conditions. For example, people with |
RGS9BP |
https://ghr.nlm.nih.gov/gene/RGS9BP |
db |
key |
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this condition are blinded for several seconds when going from a dark |
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MeSH |
D015785 |
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environment into a bright one, such as when walking out of a darkened movie |
db |
key |
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theater into daylight. Their eyes also have trouble adapting from bright light |
OMIM |
608415 |
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to dark conditions, such as when driving into a dark tunnel on a sunny day. |
db |
key |
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html:p |
Some people with bradyopsia also have difficulty seeing some moving objects, |
Orphanet |
75374 |
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particularly small objects moving against a bright background. As a result, they |
db |
key |
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often have trouble watching or participating in sports with a ball, such as |
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SNOMED CT |
711163009 |
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soccer or tennis. People with bradyopsia can have reduced sharpness (acuity) of |
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vision, although acuity may depend on the conditions under which vision is |
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tested. Visual acuity may appear to be severely affected if it is tested under |
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bright lights, but it can be near normal if tested in a dim environment. The |
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ability to see colors and distinguish between them is normal. |
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html:p |
The vision problems associated with bradyopsia become apparent in early |
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childhood. They are usually stable, which means they do not worsen over time. |
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related-gene-list |
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| 198 |
Brain-lung-thyroid syndrome |
https://ghr.nlm.nih.gov/condition/brain-lung-thyroid-syndrome |
Brain-lung-thyroid syndrome is a rare disorder; its prevalence is unknown. |
html:p |
Brain-lung-thyroid syndrome is a group of conditions that affect the brain, |
ad |
autosomal dominant |
NKX2-1 |
https://ghr.nlm.nih.gov/gene/NKX2-1 |
BLT syndrome |
db |
key |
2017-01 |
2017-12-29 |
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lungs, and thyroid gland (a butterfly-shaped gland in the lower neck). |
brain-thyroid-lung syndrome |
GTR |
C0393584 |
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Brain-lung-thyroid syndrome historically included problems with all three |
CAHTP |
db |
key |
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organs, although the designation now encompasses a combination of brain, lung, |
choreoathetosis, hypothyroidism, and neonatal respiratory distress |
GTR |
C1970269 |
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and thyroid problems. About 50 percent of affected individuals have problems |
chreoathetosis and congenital hypothyroidism with or without pulmonary |
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with all three organs, about 30 percent have brain and thyroid problems, and |
dysfunction |
GeneReviews |
nkx2-1-dis |
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about 10 percent have brain and lung problems. The brain alone is affected in 10 |
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to 20 percent of people with the condition. Such cases are sometimes called |
MeSH |
D002819 |
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isolated benign hereditary chorea. |
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html:p |
Nearly everyone with brain-lung-thyroid syndrome has brain-related movement |
MeSH |
D003409 |
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abnormalities. Benign hereditary chorea is the most common feature of the |
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syndrome. This feature is associated with involuntary jerking movements (chorea) |
MeSH |
D012127 |
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of the face, torso, and limbs; writhing movements (athetosis) of the limbs; and |
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other movement problems. Individuals with brain-lung-thyroid syndrome can have |
OMIM |
610978 |
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other abnormalities, such as difficulty coordinating movements (ataxia), muscle |
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twitches (myoclonus), and involuntary muscle contractions that result in |
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Orphanet |
209905 |
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twisting and repetitive movements (dystonia). The movement problems typically |
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begin around age 1, although they can begin in early infancy or later in life, |
SNOMED CT |
719098007 |
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and are often preceded by weak muscle tone (hypotonia). They can delay the |
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development of walking. The movement problems usually remain stable and can |
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improve over time. Some affected individuals also have learning difficulties or |
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intellectual disability. |
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html:p |
Thyroid problems are the next most common feature of brain-lung-thyroid |
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syndrome. The thyroid gland makes hormones that help regulate a wide variety of |
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critical body functions, including growth, brain development, and the rate of |
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chemical reactions in the body (metabolism). Many affected individuals have |
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reduced thyroid function from birth (congenital hypothyroidism), resulting in |
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lower-than-normal levels of thyroid hormones. Others have a milder condition |
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called compensated or subclinical hypothyroidism, in which thyroid hormone |
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levels are within the normal range, even though the thyroid is not functioning |
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properly. While most people with brain-lung-thyroid syndrome have a normal-sized |
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thyroid, the gland is reduced in size (hypoplastic) or absent (aplastic) in |
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some affected individuals. Although a shortage of thyroid hormones can cause |
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intellectual disability and other neurological problems, it is unclear whether |
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such issues in individuals with brain-lung-thyroid syndrome are due to |
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hypothyroidism or to the brain abnormalities related to the condition. |
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html:p |
Lung problems are common in brain-lung-thyroid syndrome. Some affected newborns |
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have respiratory distress syndrome, which causes extreme difficulty breathing |
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and can be life-threatening. Other affected individuals develop widespread lung |
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damage (interstitial lung disease) or scarring in the lungs (pulmonary |
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fibrosis), both of which can also lead to breathing problems. Recurrent lung |
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infections, which can be life-threatening, also occur in people with |
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brain-lung-thyroid syndrome. People with brain-lung-thyroid syndrome have a |
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higher risk of developing lung cancer than do people in the general population. |
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related-gene-list |
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| 199 |
Branchio-oculo-facial syndrome |
https://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome |
Branchio-oculo-facial syndrome is a rare condition, although the prevalence |
html:p |
Branchio-oculo-facial syndrome is a condition that affects development before |
ad |
autosomal dominant |
TFAP2A |
https://ghr.nlm.nih.gov/gene/TFAP2A |
BOFS |
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2012-09 |
2017-12-29 |
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is unknown. |
birth, particularly of structures in the face and neck. Its characteristic |
branchial clefts with characteristic facies, growth retardation, imperforate |
GTR |
C0376524 |
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features include skin anomalies on the neck, malformations of the eyes and ears, |
nasolacrimal duct, and premature aging |
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and distinctive facial features. |
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hemangiomatous branchial clefts-lip pseudocleft syndrome |
GeneReviews |
bofs |
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html:p |
"Branchio-" refers to the branchial arches, which are structures in the |
lip pseudocleft-hemagiomatous branchial cyst syndrome |
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developing embryo that give rise to tissues in the face and neck. In people with |
MeSH |
D019465 |
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branchio-oculo-facial syndrome, the first and second branchial arches do not |
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develop properly, leading to abnormal patches of skin, typically on the neck or |
OMIM |
113620 |
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near the ears. These patches can be unusually thin, hairy, or red and densely |
db |
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packed with blood vessels (hemangiomatous). In a small number of individuals, |
Orphanet |
1297 |
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tissue from a gland called the thymus is abnormally located on the skin of the |
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neck (dermal thymus). Problems with branchial arch development underlie many of |
SNOMED CT |
449821007 |
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the other features of branchio-oculo-facial syndrome. |
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html:p |
"Oculo-" refers to the eyes. Many people with branchio-oculo-facial syndrome |
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have malformations of the eyes that can lead to vision impairment. These |
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abnormalities include unusually small eyeballs (microphthalmia), no eyeballs |
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(anophthalmia), a gap or split in structures that make up the eyes (coloboma), |
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or blockage of the tear ducts (nasolacrimal duct stenosis). |
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Problems with development of the face lead to distinctive facial features in |
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people with branchio-oculo-facial syndrome. Many affected individuals have a |
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split in the upper lip (cleft lip) or a pointed upper lip that resembles a |
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poorly repaired cleft lip (often called a pseudocleft lip) with or without an |
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opening in the roof of the mouth (cleft palate). Other facial characteristics |
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include widely spaced eyes (hypertelorism), an increased distance between the |
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inner corners of the eyes (telecanthus), outside corners of the eyes that point |
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upward (upslanting palpebral fissures), a broad nose with a flattened tip, and |
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weakness of the muscles in the lower face. The ears are also commonly affected, |
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resulting in malformed or prominent ears. Abnormalities of the inner ear or of |
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the tiny bones in the ears (ossicles) can cause hearing loss in people with this |
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condition. |
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html:p |
Branchio-oculo-facial syndrome can affect other structures and tissues as well. |
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Some affected individuals have kidney abnormalities, such as malformed kidneys |
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or multiple kidney cysts. Nail and teeth abnormalities also occur, and some |
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people with this condition have prematurely graying hair. |
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related-gene-list |
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| 200 |
Branchiootorenal/branchiootic syndrome |
https://ghr.nlm.nih.gov/condition/branchiootorenal-branchiootic-syndrome |
Researchers estimate that BOR/BO syndrome affects about 1 in 40,000 people. |
html:p |
Branchiootorenal (BOR) syndrome is a condition that disrupts the development of |
ad |
autosomal dominant |
EYA1 |
https://ghr.nlm.nih.gov/gene/EYA1 |
BO syndrome |
db |
key |
2016-03 |
2017-12-29 |
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BOR (Melnick- Fraser syndrome) |
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tissues in the neck and causes malformations of the ears and kidneys. The signs |
related-gene |
gene-symbol |
ghr-page |
BOR |
GTR |
C0265234 |
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Branchio-Oto-Renal症候群 |
and symptoms of this condition vary widely, even among members of the same |
SIX1 |
https://ghr.nlm.nih.gov/gene/SIX1 |
BOR syndrome |
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family. Branchiootic (BO) syndrome includes many of the same features as BOR |
related-gene |
gene-symbol |
ghr-page |
BOS |
GTR |
C1842124 |
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syndrome, but affected individuals do not have kidney abnormalities. The two |
SIX5 |
https://ghr.nlm.nih.gov/gene/SIX5 |
branchio-oto-renal syndrome |
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conditions are otherwise so similar that researchers often consider them |
branchio-otorenal dysplasia |
GTR |
C1852718 |
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together (BOR/BO syndrome or branchiootorenal spectrum disorders). |
branchio-otorenal syndrome |
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html:p |
"Branchio-" refers to the second branchial arch, which is a structure in the |
branchiootic syndrome |
GTR |
C1865143 |
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developing embryo that gives rise to tissues in the front and side of the neck. |
branchiootorenal dysplasia |
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In people with BOR/BO syndrome, abnormal development of the second branchial |
branchiootorenal spectrum disorders |
GTR |
C1970479 |
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arch can result in the formation of masses in the neck called branchial cleft |
branchiootorenal syndrome |
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cysts. Some affected people have abnormal holes or pits called fistulae in the |
Melnick-Fraser syndrome |
GeneReviews |
bor |
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side of the neck just above the collarbone. Fistulae can form tunnels into the |
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neck, exiting in the mouth near the tonsil. Branchial cleft cysts and fistulae |
MeSH |
D019280 |
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can cause health problems if they become infected, so they are often removed |
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surgically. |
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OMIM |
113650 |
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html:p |
"Oto-" and "-otic" refer to the ear; most people with BOR/BO syndrome have |
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hearing loss and other ear abnormalities. The hearing loss can be sensorineural, |
OMIM |
120502 |
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meaning it is caused by abnormalities in the inner ear; conductive, meaning it |
db |
key |
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results from changes in the small bones in the middle ear; or mixed, meaning it |
OMIM |
602588 |
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is caused by a combination of inner ear and middle ear abnormalities. Some |
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affected people have tiny holes in the skin or extra bits of tissue just in |
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OMIM |
608389 |
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front of the ear. These are called preauricular pits and preauricular tags, |
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respectively. |
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OMIM |
610896 |
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html:p |
"Renal" refers to the kidneys; BOR syndrome (but not BO syndrome) causes |
db |
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abnormalities of kidney structure and function. These abnormalities range from |
Orphanet |
107 |
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mild to severe and can affect one or both kidneys. In some cases, end-stage |
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renal disease (ESRD) develops later in life. This serious condition occurs when |
Orphanet |
52429 |
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the kidneys become unable to filter fluids and waste products from the body |
db |
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effectively. |
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SNOMED CT |
290006 |
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related-gene-list |
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| 201 |
Breast cancer |
https://ghr.nlm.nih.gov/condition/breast-cancer |
Breast cancer is the second most commonly diagnosed cancer in women. (Only |
html:p |
Breast cancer is a disease in which certain cells in the breast become abnormal |
ad |
autosomal dominant |
ATM |
https://ghr.nlm.nih.gov/gene/ATM |
breast cancer, familial |
db |
key |
2015-05 |
2017-12-29 |
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(Cancer) |
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skin cancer is more common.) About one in eight women in the United States will |
and multiply uncontrollably to form a tumor. Although breast cancer is much more |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
breast carcinoma |
GTR |
C0346153 |
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develop invasive breast cancer in her lifetime. Researchers estimate that more |
common in women, this form of cancer can also develop in men. In both women |
n |
not inherited |
BARD1 |
https://ghr.nlm.nih.gov/gene/BARD1 |
cancer of breast |
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key |
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than 230,000 new cases of invasive breast cancer will be diagnosed in U.S. women |
and men, the most common form of breast cancer begins in cells lining the milk |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
malignant neoplasm of breast |
GTR |
C1861906 |
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in 2015.Male breast cancer represents less than 1 percent of all breast cancer |
ducts (ductal cancer). In women, cancer can also develop in the glands that |
u |
pattern unknown |
BRCA1 |
https://ghr.nlm.nih.gov/gene/BRCA1 |
malignant tumor of breast |
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diagnoses. Scientists estimate that about 2,300 new cases of breast cancer will |
produce milk (lobular cancer). Most men have little or no lobular tissue, so |
related-gene |
gene-symbol |
ghr-page |
mammary cancer |
GTR |
CN068448 |
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be diagnosed in men in 2015.Particular gene mutations associated with breast |
lobular cancer in men is very rare. |
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BRCA2 |
https://ghr.nlm.nih.gov/gene/BRCA2 |
db |
key |
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cancer are more common among certain geographic or ethnic groups, such as people |
html:p |
In its early stages, breast cancer usually does not cause pain and may exhibit |
related-gene |
gene-symbol |
ghr-page |
|
GeneReviews |
brca1 |
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of Ashkenazi (central or eastern European) Jewish heritage and people of |
no noticeable symptoms. As the cancer progresses, signs and symptoms can include |
BRIP1 |
https://ghr.nlm.nih.gov/gene/BRIP1 |
db |
key |
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Norwegian, Icelandic, or Dutch ancestry. |
a lump or thickening in or near the breast; a change in the size or shape of |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
hgc |
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the breast; nipple discharge, tenderness, or retraction (turning inward); and |
CASP8 |
https://ghr.nlm.nih.gov/gene/CASP8 |
db |
key |
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skin irritation, dimpling, or scaliness. However, these changes can occur as |
related-gene |
gene-symbol |
ghr-page |
|
GeneReviews |
li-fraumeni |
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part of many different conditions. Having one or more of these symptoms does not |
CDH1 |
https://ghr.nlm.nih.gov/gene/CDH1 |
db |
key |
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mean that a person definitely has breast cancer. |
related-gene |
gene-symbol |
ghr-page |
|
GeneReviews |
phts |
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html:p |
In some cases, cancerous tumors can invade surrounding tissue and spread to |
CHEK2 |
https://ghr.nlm.nih.gov/gene/CHEK2 |
db |
key |
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other parts of the body. If breast cancer spreads, cancerous cells most often |
related-gene |
gene-symbol |
ghr-page |
|
GeneReviews |
pjs |
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appear in the bones, liver, lungs, or brain. Tumors that begin at one site and |
CTLA4 |
https://ghr.nlm.nih.gov/gene/CTLA4 |
db |
key |
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then spread to other areas of the body are called metastatic cancers. |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
C50.01 |
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html:p |
A small percentage of all breast cancers cluster in families. These cancers are |
CYP19A1 |
https://ghr.nlm.nih.gov/gene/CYP19A1 |
db |
key |
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described as hereditary and are associated with inherited gene mutations. |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
C50.02 |
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Hereditary breast cancers tend to develop earlier in life than noninherited |
FGFR2 |
https://ghr.nlm.nih.gov/gene/FGFR2 |
db |
key |
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(sporadic) cases, and new (primary) tumors are more likely to develop in both |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
C50.011 |
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breasts. |
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H19 |
https://ghr.nlm.nih.gov/gene/H19 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
C50.11 |
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LSP1 |
https://ghr.nlm.nih.gov/gene/LSP1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
C50.012 |
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MAP3K1 |
https://ghr.nlm.nih.gov/gene/MAP3K1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
C50.019 |
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MRE11 |
https://ghr.nlm.nih.gov/gene/MRE11 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
C50.021 |
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NBN |
https://ghr.nlm.nih.gov/gene/NBN |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
C50.21 |
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PALB2 |
https://ghr.nlm.nih.gov/gene/PALB2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
C50.022 |
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PTEN |
https://ghr.nlm.nih.gov/gene/PTEN |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
C50.22 |
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RAD51 |
https://ghr.nlm.nih.gov/gene/RAD51 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
C50.029 |
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RAD51C |
https://ghr.nlm.nih.gov/gene/RAD51C |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
C50.31 |
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STK11 |
https://ghr.nlm.nih.gov/gene/STK11 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
C50.32 |
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TERT |
https://ghr.nlm.nih.gov/gene/TERT |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
C50.41 |
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TOX3 |
https://ghr.nlm.nih.gov/gene/TOX3 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
C50.42 |
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TP53 |
https://ghr.nlm.nih.gov/gene/TP53 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
C50.51 |
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XRCC2 |
https://ghr.nlm.nih.gov/gene/XRCC2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
C50.52 |
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XRCC3 |
https://ghr.nlm.nih.gov/gene/XRCC3 |
db |
key |
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ICD-10-CM |
C50.61 |
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db |
key |
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ICD-10-CM |
C50.62 |
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db |
key |
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ICD-10-CM |
C50.81 |
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db |
key |
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ICD-10-CM |
C50.82 |
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db |
key |
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ICD-10-CM |
C50.91 |
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db |
key |
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ICD-10-CM |
C50.92 |
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db |
key |
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ICD-10-CM |
C50.111 |
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ICD-10-CM |
C50.112 |
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ICD-10-CM |
C50.119 |
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ICD-10-CM |
C50.211 |
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ICD-10-CM |
C50.212 |
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ICD-10-CM |
C50.219 |
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ICD-10-CM |
C50.221 |
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ICD-10-CM |
C50.222 |
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ICD-10-CM |
C50.229 |
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ICD-10-CM |
C50.311 |
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ICD-10-CM |
C50.312 |
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ICD-10-CM |
C50.319 |
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ICD-10-CM |
C50.321 |
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ICD-10-CM |
C50.322 |
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ICD-10-CM |
C50.329 |
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ICD-10-CM |
C50.411 |
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ICD-10-CM |
C50.412 |
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ICD-10-CM |
C50.419 |
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ICD-10-CM |
C50.421 |
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ICD-10-CM |
C50.422 |
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ICD-10-CM |
C50.429 |
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ICD-10-CM |
C50.511 |
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ICD-10-CM |
C50.512 |
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ICD-10-CM |
C50.519 |
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ICD-10-CM |
C50.521 |
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ICD-10-CM |
C50.522 |
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ICD-10-CM |
C50.529 |
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ICD-10-CM |
C50.611 |
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ICD-10-CM |
C50.612 |
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ICD-10-CM |
C50.619 |
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db |
key |
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ICD-10-CM |
C50.621 |
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db |
key |
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ICD-10-CM |
C50.622 |
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db |
key |
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ICD-10-CM |
C50.629 |
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db |
key |
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ICD-10-CM |
C50.811 |
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db |
key |
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ICD-10-CM |
C50.812 |
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db |
key |
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ICD-10-CM |
C50.819 |
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key |
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ICD-10-CM |
C50.821 |
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db |
key |
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ICD-10-CM |
C50.822 |
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db |
key |
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ICD-10-CM |
C50.829 |
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db |
key |
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ICD-10-CM |
C50.911 |
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db |
key |
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ICD-10-CM |
C50.912 |
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db |
key |
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ICD-10-CM |
C50.919 |
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db |
key |
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ICD-10-CM |
C50.921 |
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db |
key |
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ICD-10-CM |
C50.922 |
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db |
key |
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ICD-10-CM |
C50.929 |
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db |
key |
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ICD-10-CM |
D05.0 |
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db |
key |
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ICD-10-CM |
D05.00 |
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db |
key |
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ICD-10-CM |
D05.01 |
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db |
key |
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ICD-10-CM |
D05.1 |
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db |
key |
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ICD-10-CM |
D05.02 |
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db |
key |
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ICD-10-CM |
D05.9 |
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db |
key |
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ICD-10-CM |
D05.10 |
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db |
key |
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ICD-10-CM |
D05.11 |
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db |
key |
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ICD-10-CM |
D05.12 |
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db |
key |
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ICD-10-CM |
D05.90 |
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db |
key |
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ICD-10-CM |
D05.91 |
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db |
key |
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ICD-10-CM |
D05.92 |
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db |
key |
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ICD-10-CM |
Z15.01 |
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db |
key |
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ICD-10-CM |
Z80.3 |
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db |
key |
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|
MeSH |
D001943 |
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db |
key |
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OMIM |
114480 |
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db |
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OMIM |
604370 |
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db |
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OMIM |
612555 |
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db |
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Orphanet |
227535 |
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db |
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SNOMED CT |
126926005 |
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SNOMED CT |
254837009 |
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SNOMED CT |
254838004 |
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related-gene-list |
|
SNOMED CT |
254843006 |
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| 202 |
Brody myopathy |
https://ghr.nlm.nih.gov/condition/brody-myopathy |
Brody myopathy is a rare condition, although its exact prevalence is |
html:p |
Brody myopathy is a condition that affects the skeletal muscles, which are the |
ad |
autosomal dominant |
ATP2A1 |
https://ghr.nlm.nih.gov/gene/ATP2A1 |
Brody disease |
db |
key |
2012-01 |
2017-12-29 |
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Brody 肌肉病變 |
unknown. |
muscles used for movement. Affected individuals experience muscle cramping and |
code |
memo |
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GTR |
C1832918 |
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stiffening after exercise or other strenuous activity, especially in cold |
ar |
autosomal recessive |
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db |
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temperatures. These symptoms typically begin in childhood. They are usually |
MeSH |
D009135 |
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painless, but in some cases can cause mild discomfort. The muscles usually relax |
db |
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after a few minutes of rest. Most commonly affected are the muscles of the |
OMIM |
601003 |
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arms, legs, and face (particularly the eyelids). |
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html:p |
In some people with Brody myopathy, exercise leads to the breakdown of muscle |
SNOMED CT |
703530005 |
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tissue (rhabdomyolysis). The destruction of muscle tissue releases a protein |
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called myoglobin, which is processed by the kidneys and released in the urine |
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(myoglobinuria). Myoglobin causes the urine to be red or brown. |
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related-gene-list |
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| 203 |
Brooke-Spiegler syndrome |
https://ghr.nlm.nih.gov/condition/brooke-spiegler-syndrome |
Brooke-Spiegler syndrome is a rare disorder; its prevalence is unknown. |
html:p |
Brooke-Spiegler syndrome is a condition involving multiple skin tumors that |
ad |
autosomal dominant |
CYLD |
https://ghr.nlm.nih.gov/gene/CYLD |
BRSS |
db |
key |
2012-06 |
2017-12-29 |
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Brooke-Spiegler综合症 |
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develop from structures associated with the skin (skin appendages), such as |
BSS |
GTR |
C1857941 |
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sweat glands and hair follicles. People with Brooke-Spiegler syndrome may |
Spiegler-Brooke syndrome |
db |
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develop several types of tumors, including growths called spiradenomas, |
MeSH |
D012878 |
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trichoepitheliomas, and cylindromas. Spiradenomas develop in sweat glands. |
db |
key |
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Trichoepitheliomas arise from hair follicles. The origin of cylindromas has been |
OMIM |
605041 |
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unclear; while previously thought to derive from sweat glands, they are now |
db |
key |
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generally believed to begin in hair follicles. The tumors associated with |
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SNOMED CT |
703531009 |
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Brooke-Spiegler syndrome are generally noncancerous (benign), but occasionally |
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they may become cancerous (malignant). Affected individuals are also at |
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increased risk of developing tumors in tissues other than skin appendages, |
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particularly benign or malignant tumors of the salivary glands. |
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html:p |
People with Brooke-Spiegler syndrome typically begin developing tumors in early |
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adulthood. The tumors are most often found on the head and neck. They grow |
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larger and increase in number over time. In severe cases, the tumors may get in |
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the way of the eyes, ears, nose, or mouth and affect vision, hearing, or other |
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functions. The tumors can be disfiguring and may contribute to depression or |
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other psychological problems. For reasons that are unclear, females with |
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Brooke-Spiegler syndrome are often more severely affected than males. |
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related-gene-list |
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| 203 |
Brugada syndrome |
https://ghr.nlm.nih.gov/condition/brugada-syndrome |
The exact prevalence of Brugada syndrome is unknown, although it is |
html:p |
Brugada syndrome is a condition that causes a disruption of the heart's normal |
ad |
autosomal dominant |
CACNA1C |
https://ghr.nlm.nih.gov/gene/CACNA1C |
bangungut |
db |
key |
2015-03 |
2017-12-29 |
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布魯蓋達氏症候群 |
estimated to affect 5 in 10,000 people worldwide. This condition occurs much |
rhythm. Specifically, this disorder can lead to irregular heartbeats in the |
related-gene |
gene-symbol |
ghr-page |
idiopathic ventricular fibrillation, Brugada type |
GTR |
C1142166 |
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(Heart) |
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more frequently in people of Asian ancestry, particularly in Japanese and |
heart's lower chambers (ventricles), which is an abnormality called ventricular |
CACNA2D1 |
https://ghr.nlm.nih.gov/gene/CACNA2D1 |
Pokkuri death syndrome |
db |
key |
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Southeast Asian populations.Although Brugada syndrome affects both men and |
arrhythmia. If untreated, the irregular heartbeats can cause fainting (syncope), |
related-gene |
gene-symbol |
ghr-page |
sudden unexpected nocturnal death syndrome |
GTR |
CN029323 |
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women, the condition appears to be 8 to 10 times more common in men. |
seizures, difficulty breathing, or sudden death. These complications typically |
CACNB2 |
https://ghr.nlm.nih.gov/gene/CACNB2 |
sudden unexplained death syndrome |
db |
key |
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Researchers suspect that testosterone, a sex hormone present at much higher |
occur when an affected person is resting or asleep. |
related-gene |
gene-symbol |
ghr-page |
SUDS |
GeneReviews |
brugada |
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levels in men, may account for this difference. |
html:p |
Brugada syndrome usually becomes apparent in adulthood, although it can develop |
GPD1L |
https://ghr.nlm.nih.gov/gene/GPD1L |
SUNDS |
db |
key |
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any time throughout life. Signs and symptoms related to arrhythmias, including |
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D053840 |
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sudden death, can occur from early infancy to late adulthood. Sudden death |
HCN4 |
https://ghr.nlm.nih.gov/gene/HCN4 |
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typically occurs around age 40. This condition may explain some cases of sudden |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
601144 |
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infant death syndrome (SIDS), which is a major cause of death in babies younger |
KCND3 |
https://ghr.nlm.nih.gov/gene/KCND3 |
db |
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than 1 year. SIDS is characterized by sudden and unexplained death, usually |
related-gene |
gene-symbol |
ghr-page |
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Orphanet |
130 |
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during sleep. |
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KCNE3 |
https://ghr.nlm.nih.gov/gene/KCNE3 |
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html:p |
Sudden unexplained nocturnal death syndrome (SUNDS) is a condition characterized |
related-gene |
gene-symbol |
ghr-page |
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SNOMED CT |
418818005 |
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by unexpected cardiac arrest in young adults, usually at night during sleep. |
KCNE5 |
https://ghr.nlm.nih.gov/gene/KCNE5 |
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This condition was originally described in Southeast Asian populations, where it |
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is a major cause of death. Researchers have determined that SUNDS and Brugada |
KCNJ8 |
https://ghr.nlm.nih.gov/gene/KCNJ8 |
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syndrome are the same disorder. |
related-gene |
gene-symbol |
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RANGRF |
https://ghr.nlm.nih.gov/gene/RANGRF |
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related-gene |
gene-symbol |
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SCN1B |
https://ghr.nlm.nih.gov/gene/SCN1B |
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related-gene |
gene-symbol |
ghr-page |
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SCN2B |
https://ghr.nlm.nih.gov/gene/SCN2B |
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related-gene |
gene-symbol |
ghr-page |
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SCN3B |
https://ghr.nlm.nih.gov/gene/SCN3B |
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related-gene |
gene-symbol |
ghr-page |
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SCN5A |
https://ghr.nlm.nih.gov/gene/SCN5A |
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related-gene |
gene-symbol |
ghr-page |
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SLMAP |
https://ghr.nlm.nih.gov/gene/SLMAP |
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related-gene |
gene-symbol |
ghr-page |
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TRPM4 |
https://ghr.nlm.nih.gov/gene/TRPM4 |
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Bruton's agammaglobulinemia disease |
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布魯頓式低免疫球蛋白血症 |
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related-gene-list |
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| 205 |
Burn-McKeown syndrome |
https://ghr.nlm.nih.gov/condition/burn-mckeown-syndrome |
Burn-McKeown syndrome is a rare disorder; its prevalence is unknown. Only a |
html:p |
Burn-McKeown syndrome is a disorder that is present from birth (congenital) and |
ar |
autosomal recessive |
TXNL4A |
https://ghr.nlm.nih.gov/gene/TXNL4A |
bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance |
db |
key |
2016-08 |
2017-12-29 |
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small number of affected individuals have been described in the medical |
involves abnormalities of the nasal passages, characteristic facial features, |
BMKS |
GTR |
C1837822 |
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literature. |
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hearing loss, heart abnormalities, and short stature. |
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choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome |
db |
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html:p |
In people with Burn-McKeown syndrome, both nasal passages are usually narrowed |
oculo-oto-facial dysplasia |
GeneReviews |
burn-mckeown |
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(bilateral choanal stenosis) or completely blocked (bilateral choanal atresia), |
oculootofacial dysplasia |
db |
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which can cause life-threatening breathing problems in infancy without surgical |
OOFD |
MeSH |
D002754 |
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repair. Typical facial features include narrow openings of the eyelids (short |
db |
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palpebral fissures); a gap (coloboma) in the lower eyelids; widely spaced eyes |
MeSH |
D003638 |
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(hypertelorism); a prominent bridge of the nose; a short space between the nose |
db |
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and the upper lip (philtrum); a small opening of the mouth (microstomia); and |
MeSH |
D006330 |
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large, protruding ears. |
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db |
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html:p |
Some people with Burn-McKeown syndrome have congenital hearing loss in both ears |
MeSH |
D019066 |
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which varies in severity among affected individuals. The hearing loss is |
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described as mixed, which means that it is caused by both changes in the inner |
OMIM |
608572 |
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ear (sensorineural hearing loss) and changes in the middle ear (conductive |
db |
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hearing loss). |
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Orphanet |
1200 |
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html:p |
Other features that can occur in Burn-McKeown syndrome include mild short |
db |
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stature and congenital heart defects such as patent ductus arteriosus (PDA). The |
SNOMED CT |
720640005 |
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ductus arteriosus is a connection between two major arteries, the aorta and the |
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pulmonary artery. This connection is open during fetal development and normally |
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closes shortly after birth. However, the ductus arteriosus remains open, or |
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patent, in babies with PDA. If untreated, this heart defect causes infants to |
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breathe rapidly, feed poorly, and gain weight slowly; in severe cases, it can |
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lead to heart failure. Intelligence is unaffected in Burn-McKeown syndrome. |
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related-gene-list |
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| 206 |
Buschke-Ollendorff syndrome |
https://ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome |
Buschke-Ollendorff syndrome has an estimated incidence of 1 in 20,000 |
html:p |
Buschke-Ollendorff syndrome is a hereditary disorder of connective tissues, |
ad |
autosomal dominant |
LEMD3 |
https://ghr.nlm.nih.gov/gene/LEMD3 |
dermatofibrosis disseminata lenticularis |
db |
key |
2013-10 |
2017-12-29 |
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people worldwide. |
which are tissues that provide strength and flexibility to structures throughout |
dermatofibrosis lenticularis disseminata |
GTR |
C0265514 |
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the body. Specifically, the condition is characterized by skin growths called |
dermatofibrosis lenticularis disseminata with osteopoikilosis |
db |
key |
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connective tissue nevi and a bone abnormality known as osteopoikilosis. |
dermatofibrosis, disseminated, with osteopoikilosis |
MeSH |
D010023 |
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html:p |
Connective tissue nevi are small, noncancerous lumps on the skin. They tend to |
dermatoosteopoikilosis |
db |
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appear in childhood and are widespread in people with Buschke-Ollendorff |
osteopathia condensans disseminata |
OMIM |
166700 |
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syndrome. The most common form of these nevi are elastomas, which are made up of |
db |
key |
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a type of stretchy connective tissue called elastic fibers. Less commonly, |
Orphanet |
1306 |
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affected individuals have nevi called collagenomas, which are made up of another |
db |
key |
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type of connective tissue called collagen. |
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SNOMED CT |
60399005 |
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html:p |
Osteopoikilosis, which is from the Greek words for "spotted bones," is a |
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skeletal abnormality characterized by small, round areas of increased bone |
SNOMED CT |
9147009 |
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density that appear as brighter spots on x-rays. Osteopoikilosis usually occurs |
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near the ends of the long bones of the arms and legs, and in the bones of the |
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hands, feet, and pelvis. The areas of increased bone density appear during |
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childhood. They do not cause pain or other health problems. |
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related-gene-list |
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C3 glomerulopathy |
https://ghr.nlm.nih.gov/condition/c3-glomerulopathy |
C3 glomerulopathy is very rare, affecting 1 to 2 per million people |
html:p |
C3 glomerulopathy is a group of related conditions that cause the kidneys to |
ar |
autosomal recessive |
ADAM19 |
https://ghr.nlm.nih.gov/gene/ADAM19 |
C3 glomerulonephritis |
db |
key |
2015-12 |
2017-12-29 |
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C3肾小球病 |
worldwide. It is equally common in men and women. |
malfunction. The major features of C3 glomerulopathy include high levels of |
related-gene |
gene-symbol |
ghr-page |
C3G |
GTR |
C0268743 |
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(Kidney) |
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protein in the urine (proteinuria), blood in the urine (hematuria), reduced |
C3 |
https://ghr.nlm.nih.gov/gene/C3 |
DDD |
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amounts of urine, low levels of protein in the blood, and swelling in many areas |
related-gene |
gene-symbol |
ghr-page |
DDD/MPGNII |
GTR |
C0398777 |
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of the body. Affected individuals may have particularly low levels of a protein |
C3AR1 |
https://ghr.nlm.nih.gov/gene/C3AR1 |
dense deposit disease |
db |
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called complement component 3 (or C3) in the blood. |
related-gene |
gene-symbol |
ghr-page |
membranoproliferative glomerulonephritis type II |
GTR |
C3553720 |
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html:p |
The kidney problems associated with C3 glomerulopathy tend to worsen over time. |
C8A |
https://ghr.nlm.nih.gov/gene/C8A |
db |
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About half of affected individuals develop end-stage renal disease (ESRD) within |
related-gene |
gene-symbol |
ghr-page |
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GTR |
CN120381 |
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10 years after their diagnosis. ESRD is a life-threatening condition that |
CD46 |
https://ghr.nlm.nih.gov/gene/CD46 |
db |
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prevents the kidneys from filtering fluids and waste products from the body |
related-gene |
gene-symbol |
ghr-page |
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GTR |
CN187045 |
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effectively. |
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CFB |
https://ghr.nlm.nih.gov/gene/CFB |
db |
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html:p |
Researchers have identified two major forms of C3 glomerulopathy: dense deposit |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
mpgn |
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disease and C3 glomerulonephritis. Although the two disorders cause similar |
CFD |
https://ghr.nlm.nih.gov/gene/CFD |
db |
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kidney problems, the features of dense deposit disease tend to appear earlier |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
N00.6 |
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than those of C3 glomerulonephritis, usually in adolescence. However, the signs |
CFH |
https://ghr.nlm.nih.gov/gene/CFH |
db |
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and symptoms of either disease may not begin until adulthood. |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
N01.6 |
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html:p |
One of the two forms of C3 glomerulopathy, dense deposit disease, can also be |
CFHR1 |
https://ghr.nlm.nih.gov/gene/CFHR1 |
db |
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associated with other conditions unrelated to kidney function. For example, |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
N02.6 |
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people with dense deposit disease may have acquired partial lipodystrophy, a |
CFHR2 |
https://ghr.nlm.nih.gov/gene/CFHR2 |
db |
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condition characterized by a lack of fatty (adipose) tissue under the skin in |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
N03.6 |
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the upper part of the body. Additionally, some people with dense deposit disease |
CFHR3 |
https://ghr.nlm.nih.gov/gene/CFHR3 |
db |
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develop a buildup of yellowish deposits called drusen in the light-sensitive |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
N04.6 |
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tissue at the back of the eye (the retina). These deposits usually appear in |
CFHR5 |
https://ghr.nlm.nih.gov/gene/CFHR5 |
db |
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childhood or adolescence and can cause vision problems later in life. |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
N05.6 |
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CFI |
https://ghr.nlm.nih.gov/gene/CFI |
db |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
N06.6 |
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CR1 |
https://ghr.nlm.nih.gov/gene/CR1 |
db |
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ICD-10-CM |
N07.6 |
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db |
key |
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MeSH |
D015432 |
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db |
key |
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OMIM |
609814 |
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db |
key |
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OMIM |
614809 |
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db |
key |
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Orphanet |
329931 |
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db |
key |
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Orphanet |
93571 |
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db |
key |
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|
SNOMED CT |
197599000 |
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db |
key |
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related-gene-list |
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SNOMED CT |
59479006 |
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Caffey disease |
https://ghr.nlm.nih.gov/condition/caffey-disease |
Caffey disease has been estimated to occur in approximately 3 per 1,000 |
html:p |
Caffey disease, also called infantile cortical hyperostosis, is a bone disorder |
ad |
autosomal dominant |
COL1A1 |
https://ghr.nlm.nih.gov/gene/COL1A1 |
Caffey-Silverman syndrome |
db |
key |
2013-04 |
2017-12-29 |
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Caffey 症候群 |
infants worldwide. A few hundred cases have been described in the medical |
that most often occurs in babies. Excessive new bone formation (hyperostosis) is |
de Toni-Caffey disease |
GTR |
C0020497 |
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(Bone) |
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literature. Researchers believe this condition is probably underdiagnosed |
characteristic of Caffey disease. The bone abnormalities mainly affect the |
infantile cortical hyperostosis |
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because it usually goes away by itself in early childhood. |
jawbone, shoulder blades (scapulae), collarbones (clavicles), and the shafts |
GeneReviews |
caffey |
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(diaphyses) of long bones in the arms and legs. Affected bones may double or |
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triple in width, which can be seen by x-ray imaging. In some cases two bones |
MeSH |
D006958 |
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that are next to each other, such as two ribs or the pairs of long bones in the |
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forearms (radius and ulna) or lower legs (tibia and fibula) become fused |
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OMIM |
114000 |
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together. Babies with Caffey disease also have swelling of joints and of soft |
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tissues such as muscles, with pain and redness in the affected areas. Affected |
Orphanet |
1310 |
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infants can also be feverish and irritable. |
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html:p |
The signs and symptoms of Caffey disease are usually apparent by the time an |
SNOMED CT |
24752008 |
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infant is 5 months old. In rare cases, skeletal abnormalities can be detected by |
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ultrasound imaging during the last few weeks of development before birth. |
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Lethal prenatal cortical hyperostosis, a more severe disorder that appears |
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earlier in development and is often fatal before or shortly after birth, is |
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sometimes called lethal prenatal Caffey disease; however, it is generally |
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considered to be a separate disorder. |
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html:p |
For unknown reasons, the swelling and pain associated with Caffey disease |
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typically go away within a few months. Through a normal process called bone |
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remodeling, which replaces old bone tissue with new bone, the excess bone is |
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usually reabsorbed by the body and undetectable on x-ray images by the age of 2. |
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However, if two adjacent bones have fused, they may remain that way, possibly |
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resulting in complications. For example, fused rib bones can lead to curvature |
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of the spine (scoliosis) or limit expansion of the chest, resulting in breathing |
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problems. |
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html:p |
Most people with Caffey disease have no further problems related to the disorder |
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after early childhood. Occasionally, another episode of hyperostosis occurs |
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years later. In addition, some adults who had Caffey disease in infancy have |
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other abnormalities of the bones and connective tissues, which provide strength |
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and flexibility to structures throughout the body. Affected adults may have |
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loose joints (joint laxity), stretchy (hyperextensible) skin, or be prone to |
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protrusion of organs through gaps in muscles (hernias). |
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related-gene-list |
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Campomelic dysplasia |
https://ghr.nlm.nih.gov/condition/campomelic-dysplasia |
The prevalence of campomelic dysplasia is uncertain; estimates range from 1 |
html:p |
Campomelic dysplasia is a severe disorder that affects development of the |
ad |
autosomal dominant |
SOX9 |
https://ghr.nlm.nih.gov/gene/SOX9 |
campomelic dwarfism |
db |
key |
2014-06 |
2017-12-29 |
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短指發育不良 |
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in 40,000 to 200,000 people. |
skeleton, reproductive system, and other parts of the body. This condition is |
campomelic syndrome |
GTR |
C1861922 |
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often life-threatening in the newborn period. |
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camptomelic dysplasia |
db |
key |
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html:p |
The term "campomelic" comes from the Greek words for "bent limb." Affected |
GeneReviews |
campo-dysp |
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individuals are typically born with bowing of the long bones in the legs, and |
db |
key |
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occasionally, bowing in the arms. Bowing can cause characteristic skin dimples |
MeSH |
D055036 |
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to form over the curved bone, especially on the lower legs. People with |
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key |
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campomelic dysplasia usually have short legs, dislocated hips, underdeveloped |
OMIM |
114290 |
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shoulder blades, 11 pairs of ribs instead of 12, bone abnormalities in the neck, |
db |
key |
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and inward- and upward-turning feet (clubfeet). These skeletal abnormalities |
Orphanet |
140 |
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begin developing before birth and can often be seen on ultrasound. When affected |
db |
key |
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individuals have features of this disorder but do not have bowed limbs, they |
SNOMED CT |
74928006 |
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are said to have acampomelic campomelic dysplasia. |
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html:p |
Many people with campomelic dysplasia have external genitalia that do not look |
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clearly male or clearly female (ambiguous genitalia). Approximately 75 percent |
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of affected individuals with a typical male chromosome pattern (46,XY) have |
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ambiguous genitalia or normal female genitalia. Internal reproductive organs may |
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not correspond with the external genitalia; the internal organs can be male |
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(testes), female (ovaries), or a combination of the two. For example, an |
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individual with female external genitalia may have testes or a combination of |
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testes and ovaries. |
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html:p |
Affected individuals have distinctive facial features, including a small chin, |
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prominent eyes, and a flat face. They also have a large head compared to their |
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body size. A particular group of physical features, called Pierre Robin |
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sequence, is common in people with campomelic dysplasia. Pierre Robin sequence |
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includes an opening in the roof of the mouth (a cleft palate), a tongue that is |
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placed further back than normal (glossoptosis), and a small lower jaw |
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(micrognathia). People with campomelic dysplasia are often born with weakened |
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cartilage that forms the upper respiratory tract. This abnormality, called |
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laryngotracheomalacia, partially blocks the airway and causes difficulty |
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breathing. Laryngotracheomalacia contributes to the poor survival of infants |
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with campomelic dysplasia. |
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html:p |
Only a few people with campomelic dysplasia survive past infancy. As these |
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individuals age, they may develop an abnormal curvature of the spine (scoliosis) |
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and other spine abnormalities that compress the spinal cord. People with |
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campomelic dysplasia may also have short stature and hearing loss. |
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related-gene-list |
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Camurati-Engelmann disease |
https://ghr.nlm.nih.gov/condition/camurati-engelmann-disease |
The prevalence of Camurati-Engelmann disease is unknown. More than 300 |
html:p |
Camurati-Engelmann disease is a skeletal condition that is characterized by |
ad |
autosomal dominant |
TGFB1 |
https://ghr.nlm.nih.gov/gene/TGFB1 |
Camurati-Engelmann syndrome |
db |
key |
2017-11 |
2017-12-29 |
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卡-恩二氏病 |
cases have been reported worldwide. |
abnormally thick bones (hyperostosis) in the arms, legs, and skull. |
CED |
GTR |
C0011989 |
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坎-恩二氏病 |
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The thick limb bones can lead to bone pain and muscle weakness in the arms and |
diaphyseal dysplasia |
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(Bone) |
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legs and cause individuals with Camurati-Engelmann disease to tire quickly. Bone |
diaphyseal hyperostosis |
GeneReviews |
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pain ranges from mild to severe and can increase with stress, activity, or cold |
diaphyseal osteosclerosis |
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weather. Leg weakness can make it difficult to stand up from a seated position |
Engelmann disease |
ICD-10-CM |
Q78.3 |
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and some affected individuals develop a waddling or unsteady walk. Additional |
PDD |
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limb abnormalities include joint deformities (contractures), knock knees (a |
progressive diaphyseal dysplasia |
MeSH |
D003966 |
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condition in which the lower legs are positioned at an outward angle), and flat |
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feet (pes planus). Swelling and redness (erythema) of the limbs and an abnormal |
OMIM |
131300 |
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curvature of the spine can also occur. |
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key |
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html:p |
Individuals with Camurati-Engelmann disease may have an unusually thick skull, |
OMIM |
606631 |
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which can lead to an abnormally large head (macrocephaly) and lower jaw |
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(mandible), a prominent forehead (frontal bossing), and bulging eyes with |
Orphanet |
1328 |
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shallow eye sockets (ocular proptosis). These changes to the head and face |
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become more prominent with age and are most noticeable in affected adults. In |
SNOMED CT |
34643004 |
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about a quarter of individuals with Camurati-Engelmann disease, the thickened |
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skull increases pressure on the brain or compresses the spinal cord, which can |
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cause a variety of neurological problems, including headaches, hearing loss, |
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vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial |
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paralysis. |
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html:p |
The degree of hyperostosis varies among individuals with Camurati-Engelmann |
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disease as does the age at which they experience their first symptoms. |
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html:p |
Other, rare features of Camurati-Engelmann disease include abnormally long limbs |
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in proportion to height, a decrease in muscle mass and body fat, delayed |
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teething (dentition), frequent cavities, delayed puberty, a shortage of red |
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blood cells (anemia), an enlarged liver and spleen (hepatosplenomegaly), |
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thinning of the skin, and excessively sweaty (hyperhidrotic) hands and feet. |
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related-gene-list |
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Canavan disease |
https://ghr.nlm.nih.gov/condition/canavan-disease |
While this condition occurs in people of all ethnic backgrounds, it is most |
html:p |
Canavan disease is a rare inherited disorder that damages the ability of nerve |
ar |
autosomal recessive |
ASPA |
https://ghr.nlm.nih.gov/gene/ASPA |
ACY2 deficiency |
db |
key |
2015-04 |
2017-12-29 |
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(Development) |
common in people of Ashkenazi (eastern and central European) Jewish heritage. |
cells (neurons) in the brain to send and receive messages. This disease is one |
aminoacylase 2 deficiency |
GTR |
C0206307 |
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Studies suggest that this disorder affects 1 in 6,400 to 13,500 people in the |
of a group of genetic disorders called leukodystrophies. Leukodystrophies |
Aspa deficiency |
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Ashkenazi Jewish population. The incidence in other populations is unknown. |
disrupt the growth or maintenance of the myelin sheath, which is the covering |
aspartoacylase deficiency |
GTR |
CN068568 |
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that protects nerves and promotes the efficient transmission of nerve impulses. |
Canavan's disease |
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html:p |
Neonatal/infantile Canavan disease is the most common and most severe form of |
GeneReviews |
canavan |
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the condition. Affected infants appear normal for the first few months of life, |
db |
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but by age 3 to 5 months, problems with development become noticeable. These |
ICD-10-CM |
E75.29 |
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infants usually do not develop motor skills such as turning over, controlling |
db |
key |
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head movement, and sitting without support. Other common features of this |
MeSH |
D017825 |
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condition include weak muscle tone (hypotonia), an unusually large head size |
db |
key |
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(macrocephaly), and irritability. Feeding and swallowing difficulties, seizures, |
OMIM |
271900 |
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and sleep disturbances may also develop. |
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html:p |
The mild/juvenile form of Canavan disease is less common. Affected individuals |
Orphanet |
141 |
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have mildly delayed development of speech and motor skills starting in |
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key |
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childhood. These delays may be so mild and nonspecific that they are never |
Orphanet |
314911 |
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recognized as being caused by Canavan disease. |
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db |
key |
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html:p |
The life expectancy for people with Canavan disease varies. Most people with the |
Orphanet |
314918 |
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neonatal/infantile form live only into childhood, although some survive into |
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adolescence or beyond. People with the mild/juvenile form do not appear to have |
SNOMED CT |
80544005 |
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a shortened lifespan. |
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related-gene-list |
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Cantú syndrome |
https://ghr.nlm.nih.gov/condition/cantu-syndrome |
Cantú syndrome is a rare condition. About three dozen affected individuals |
html:p |
Cantú syndrome is a rare condition characterized by excess hair growth |
ad |
autosomal dominant |
ABCC9 |
https://ghr.nlm.nih.gov/gene/ABCC9 |
Cantu syndrome |
db |
key |
2013-01 |
2017-12-29 |
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Cantu 綜合症 |
have been reported in the medical literature. |
(hypertrichosis), a distinctive facial appearance, heart defects, and several |
hypertrichosis-osteochondrodysplasia-cardiomegaly syndrome |
GTR |
C0795905 |
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other abnormalities. The features of the disorder vary among affected |
hypertrichotic osteochondrodysplasia |
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individuals. |
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GeneReviews |
cantu |
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html:p |
People with Cantú syndrome have thick scalp hair that extends onto the forehead |
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and grows down onto the cheeks in front of the ears. They also have increased |
MeSH |
D010009 |
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body hair, especially on the back, arms, and legs. Most affected individuals |
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have a large head (macrocephaly) and distinctive facial features that are |
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OMIM |
239850 |
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described as "coarse." These include a broad nasal bridge, skin folds covering |
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the inner corner of the eyes (epicanthal folds), and a wide mouth with full |
|
Orphanet |
1517 |
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lips. As affected individuals get older, the face lengthens, the chin becomes |
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more prominent, and the eyes become deep-set. |
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SNOMED CT |
239087008 |
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html:p |
Many infants with Cantú syndrome are born with a heart defect such as an |
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enlarged heart (cardiomegaly) or patent ductus arteriosus (PDA). The ductus |
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arteriosus is a connection between two major arteries, the aorta and the |
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pulmonary artery. This connection is open during fetal development and normally |
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closes shortly after birth. However, the ductus arteriosus remains open, or |
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patent, in babies with PDA. Other heart problems have also been found in people |
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with Cantú syndrome, including an abnormal buildup of fluid around the heart |
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(pericardial effusion) and high blood pressure in the blood vessels that carry |
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blood from the heart to the lungs (pulmonary hypertension). |
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html:p |
Additional features of this condition include distinctive skeletal |
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abnormalities, a large body size (macrosomia) at birth, a reduced amount of fat |
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under the skin (subcutaneous fat) beginning in childhood, deep horizontal |
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creases in the palms of the hands and soles of the feet, and an increased |
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susceptibility to respiratory infections. Other signs and symptoms that have |
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been reported include abnormal swelling in the body's tissues (lymphedema), |
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side-to-side curvature of the spine (scoliosis), and reduced bone density |
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(osteopenia). Some affected children have weak muscle tone (hypotonia) that |
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delays the development of motor skills such as sitting, standing, and walking. |
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Most have mildly delayed speech, and some affected children have mild |
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intellectual disability or learning problems. |
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related-gene-list |
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Cap myopathy |
https://ghr.nlm.nih.gov/condition/cap-myopathy |
Cap myopathy is a rare disorder that has been identified in only a small |
html:p |
Cap myopathy is a disorder that primarily affects skeletal muscles, which are |
ad |
autosomal dominant |
ACTA1 |
https://ghr.nlm.nih.gov/gene/ACTA1 |
cap disease |
db |
key |
2012-04 |
2017-12-29 |
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(Muscle) |
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number of individuals. Its exact prevalence is unknown. |
muscles that the body uses for movement. People with cap myopathy have muscle |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
congenital myopathy 先天性肌肉病變 with caps |
GTR |
C2750413 |
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weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but |
n |
not inherited |
TPM2 |
https://ghr.nlm.nih.gov/gene/TPM2 |
db |
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they are most severely affected in the muscles of the face, neck, and limbs. The |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2750414 |
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muscle weakness, which begins at birth or during childhood, can worsen over |
TPM3 |
https://ghr.nlm.nih.gov/gene/TPM3 |
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time. |
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MeSH |
D020914 |
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html:p |
Affected individuals may have feeding and swallowing difficulties in infancy. |
db |
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They typically have delayed development of motor skills such as sitting, |
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OMIM |
609284 |
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crawling, standing, and walking. They may fall frequently, tire easily, and have |
db |
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difficulty running, climbing stairs, or jumping. In some cases, the muscles |
OMIM |
609285 |
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used for breathing are affected, and life-threatening breathing difficulties can |
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occur. |
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Orphanet |
171881 |
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html:p |
People with cap myopathy may have a high arch in the roof of the mouth |
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(high-arched palate), severely drooping eyelids (ptosis), and a long face. Some |
SNOMED CT |
703532002 |
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affected individuals develop an abnormally curved lower back (lordosis) or a |
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spine that curves to the side (scoliosis). |
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html:p |
The name cap myopathy comes from characteristic abnormal cap-like structures |
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that can be seen in muscle cells when muscle tissue is viewed under a |
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microscope. The severity of cap myopathy is related to the percentage of muscle |
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cells that have these caps. Individuals in whom 70 to 75 percent of muscle cells |
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have caps typically have severe breathing problems and may not survive |
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childhood, while those in whom 10 to 30 percent of muscle cells have caps have |
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milder symptoms and can live into adulthood. |
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related-gene-list |
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Capillary malformation-arteriovenous malformation syndrome |
https://ghr.nlm.nih.gov/condition/capillary-malformation-arteriovenous-malformat |
CM-AVM is thought to occur in at least 1 in 100,000 people of northern |
html:p |
Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a |
ad |
autosomal dominant |
RASA1 |
https://ghr.nlm.nih.gov/gene/RASA1 |
capillary malformation-arteriovenous malformation |
db |
key |
2011-08 |
2017-12-29 |
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(Vascular) |
ion-syndrome |
European origin. The prevalence of the condition in other populations is |
disorder of the vascular system, which is the body's complex network of blood |
CM-AVM |
GTR |
C1842180 |
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unknown. |
vessels. The vascular system consists of arteries, which carry oxygen-rich blood |
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from the heart to the body's various organs and tissues; veins, which carry |
GeneReviews |
rasa1-rel-dis |
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blood back to the heart; and capillaries, which are tiny blood vessels that |
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connect arteries and veins. |
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MeSH |
D054079 |
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html:p |
CM-AVM is characterized by capillary malformations (CMs), which are composed of |
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enlarged capillaries that increase blood flow near the surface of the skin. |
|
OMIM |
608354 |
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These malformations look like multiple small, round, pink or red spots on the |
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skin. In most affected individuals, capillary malformations occur on the face, |
Orphanet |
137667 |
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arms, and legs. These spots may be visible from birth or may develop during |
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childhood. By themselves, capillary malformations usually do not cause any |
SNOMED CT |
703533007 |
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health problems. |
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html:p |
In some people with CM-AVM, capillary malformations are the only sign of the |
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disorder. However, other affected individuals also have more serious vascular |
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abnormalities known as arteriovenous malformations (AVMs) and arteriovenous |
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fistulas (AVFs). AVMs and AVFs are abnormal connections between arteries, veins, |
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and capillaries that affect blood circulation. Depending on where they occur in |
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the body, these abnormalities can be associated with complications including |
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abnormal bleeding, migraine headaches, seizures, and heart failure. In some |
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cases the complications can be life-threatening. In people with CM-AVM, |
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complications of AVMs and AVFs tend to appear in infancy or early childhood; |
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however, some of these vascular abnormalities never cause any symptoms. |
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html:p |
Some vascular abnormalities seen in CM-AVM are similar to those that occur in a |
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condition called Parkes Weber syndrome. In addition to vascular abnormalities, |
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Parkes Weber syndrome usually involves overgrowth of one limb. CM-AVM and some |
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cases of Parkes Weber syndrome have the same genetic cause. |
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related-gene-list |
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Carbamoyl phosphate synthetase I deficiency |
https://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency |
Carbamoyl phosphate synthetase I deficiency is a rare disorder; its overall |
html:p |
Carbamoyl phosphate synthetase I deficiency is an inherited disorder that causes |
ar |
autosomal recessive |
CPS1 |
https://ghr.nlm.nih.gov/gene/CPS1 |
carbamoyl-phosphate synthase I deficiency disease |
db |
key |
2013-02 |
2017-12-29 |
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incidence is unknown. Researchers in Japan have estimated that it occurs in 1 |
ammonia to accumulate in the blood (hyperammonemia). Ammonia, which is formed |
carbamyl-phosphate synthetase I deficiency disease |
GTR |
C0751753 |
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in 800,000 newborns in that country. |
when proteins are broken down in the body, is toxic if the levels become too |
congenital hyperammonemia, type I |
db |
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high. The brain is especially sensitive to the effects of excess ammonia. |
|
GeneReviews |
ucd-overview |
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html:p |
In the first few days of life, infants with carbamoyl phosphate synthetase I |
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deficiency typically exhibit the effects of hyperammonemia, which may include |
ICD-10-CM |
E72.29 |
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unusual sleepiness, poorly regulated breathing rate or body temperature, |
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unwillingness to feed, vomiting after feeding, unusual body movements, seizures, |
MeSH |
D020165 |
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or coma. Affected individuals who survive the newborn period may experience |
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recurrence of these symptoms if diet is not carefully managed or if they |
|
OMIM |
237300 |
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experience infections or other stressors. They may also have delayed development |
db |
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and intellectual disability. |
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Orphanet |
147 |
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html:p |
In some people with carbamoyl phosphate synthetase I deficiency, signs and |
db |
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symptoms may be less severe and appear later in life. |
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|
SNOMED CT |
62522004 |
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related-gene-list |
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Carbonic anhydrase VA deficiency |
https://ghr.nlm.nih.gov/condition/carbonic-anhydrase-va-deficiency |
The prevalence of carbonic anhydrase VA deficiency is unknown. Only a small |
html:p |
Carbonic anhydrase VA deficiency is an inherited disorder characterized by |
ar |
autosomal recessive |
CA5A |
https://ghr.nlm.nih.gov/gene/CA5A |
CA-VA deficiency |
db |
key |
2016-09 |
2017-12-29 |
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number of affected individuals have been described in the medical literature. |
episodes during which the balance of certain substances in the body is disrupted |
CA5AD |
GTR |
C3810404 |
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However, the disorder may be underdiagnosed because the metabolic crisis often |
(known as metabolic crisis) and brain function is abnormal (known as acute |
hyperammonemia due to carbonic anhydrase VA deficiency |
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key |
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does not recur after the first episode; researchers suspect that some babies |
encephalopathy). These potentially life-threatening episodes can cause poor |
hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency |
GeneReviews |
ca5a-def |
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diagnosed with transient hyperammonemia may actually have carbonic anhydrase VA |
feeding, vomiting, weight loss, tiredness (lethargy), rapid breathing |
mitochondrial carbonic anhydrase va deficiency |
db |
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deficiency. |
(tachypnea), seizures, or coma. |
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MeSH |
D020739 |
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html:p |
During an episode, people with carbonic anhydrase VA deficiency have excess |
db |
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ammonia in the blood (hyperammonemia), problems with acid-base balance in the |
MeSH |
D022124 |
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blood (metabolic acidosis and respiratory alkalosis), low glucose in the blood |
db |
key |
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(hypoglycemia), and reduced production of a substance called bicarbonate in the |
OMIM |
615751 |
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liver. These imbalances lead to the signs and symptoms that occur during the |
db |
key |
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episodes. |
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Orphanet |
401948 |
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People with carbonic anhydrase VA deficiency typically first experience episodes |
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of the disorder by age 2. These episodes may be triggered by going without food |
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(fasting) for longer than usual between meals or when energy demands are |
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increased, such as during illness. Between episodes, children with carbonic |
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anhydrase VA deficiency are generally healthy, and more than half have no |
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further episodes after the first one. Some affected children have mildly delayed |
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development or learning disabilities, while others develop normally for their |
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age. |
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The risk of metabolic crisis and acute encephalopathy is thought to decrease |
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after childhood. Because of the small number of people with carbonic anhydrase |
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VA deficiency who have come to medical attention, the effects of this disorder |
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in adults are not well understood. |
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Carbohydrate Deficiency Glycoprotein Type I Syndrome, CDG1a |
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醣類缺乏醣蛋白症候群第一型 |
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related-gene-list |
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Cardiofaciocutaneous syndrome |
https://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome |
Cardiofaciocutaneous syndrome is a very rare condition whose incidence is |
html:p |
Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, |
ad |
autosomal dominant |
BRAF |
https://ghr.nlm.nih.gov/gene/BRAF |
cardio-facio-cutaneous syndrome |
db |
key |
2012-05 |
2017-12-29 |
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CFC综合症 |
unknown. Researchers estimate that 200 to 300 people worldwide have this |
particularly the heart (cardio-), facial features (facio-), and the skin and |
related-gene |
gene-symbol |
ghr-page |
CFC syndrome |
GTR |
C1275081 |
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肉鹼棕櫚醯基轉移酶缺乏第一型 |
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condition. |
hair (cutaneous). People with this condition also have delayed development and |
KRAS |
https://ghr.nlm.nih.gov/gene/KRAS |
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intellectual disability, usually ranging from moderate to severe. |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
cfc |
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html:p |
Heart defects occur in most people with cardiofaciocutaneous syndrome. The heart |
MAP2K1 |
https://ghr.nlm.nih.gov/gene/MAP2K1 |
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problems most commonly associated with this condition include malformations of |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D004476 |
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one of the heart valves that impairs blood flow from the heart to the lungs |
MAP2K2 |
https://ghr.nlm.nih.gov/gene/MAP2K2 |
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(pulmonic stenosis), a hole between the two upper chambers of the heart (atrial |
MeSH |
D006330 |
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septal defect), and a form of heart disease that enlarges and weakens the heart |
db |
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muscle (hypertrophic cardiomyopathy). |
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OMIM |
115150 |
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html:p |
Cardiofaciocutaneous syndrome is also characterized by distinctive facial |
db |
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features. These include a high forehead that narrows at the temples, a short |
Orphanet |
1340 |
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nose, widely spaced eyes (ocular hypertelorism), outside corners of the eyes |
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that point downward (down-slanting palpebral fissures), droopy eyelids (ptosis), |
SNOMED CT |
403770008 |
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a small chin, and low-set ears. Overall, the face is broad and long, and the |
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facial features are sometimes described as "coarse." |
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html:p |
Skin abnormalities occur in almost everyone with cardiofaciocutaneous syndrome. |
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Many affected people have dry, rough skin; dark-colored moles (nevi); wrinkled |
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palms and soles; and a skin condition called keratosis pilaris, which causes |
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small bumps to form on the arms, legs, and face. People with |
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cardiofaciocutaneous syndrome also tend to have thin, dry, curly hair and sparse |
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or absent eyelashes and eyebrows. |
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html:p |
Infants with cardiofaciocutaneous syndrome typically have weak muscle tone |
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(hypotonia), feeding difficulties, and a failure to grow and gain weight at the |
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normal rate (failure to thrive). Additional features of this disorder in |
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children and adults can include an unusually large head (macrocephaly), short |
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stature, problems with vision, and seizures. |
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html:p |
The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly |
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with those of two other genetic conditions, Costello syndrome and Noonan |
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syndrome. The three conditions are distinguished by their genetic cause and |
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specific patterns of signs and symptoms; however, it can be difficult to tell |
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these conditions apart, particularly in infancy. Unlike Costello syndrome, which |
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significantly increases a person's cancer risk, cancer does not appear to be a |
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major feature of cardiofaciocutaneous syndrome. |
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related-gene-list |
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Carney complex |
https://ghr.nlm.nih.gov/condition/carney-complex |
Carney complex is a rare disorder; fewer than 750 affected individuals have |
html:p |
Carney complex is a disorder characterized by an increased risk of several types |
ad |
autosomal dominant |
PRKAR1A |
https://ghr.nlm.nih.gov/gene/PRKAR1A |
Carney Syndrome |
db |
key |
2010-01 |
2017-12-29 |
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been identified. |
of tumors. Affected individuals also usually have changes in skin coloring |
LAMB - Lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome |
GTR |
C0406810 |
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(pigmentation). Signs and symptoms of this condition commonly begin in the teens |
NAME - Nevi, atrial myxoma, skin myxoma, ephelides syndrome |
db |
key |
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or early adulthood. |
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GTR |
C1854540 |
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html:p |
Individuals with Carney complex are at increased risk of developing noncancerous |
db |
key |
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(benign) tumors called myxomas in the heart (cardiac myxoma) and other parts of |
GTR |
C2607929 |
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the body. Cardiac myxomas may be found in any of the four chambers of the heart |
db |
key |
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and can develop in more than one chamber. These tumors can block the flow of |
GeneReviews |
carney |
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blood through the heart, causing serious complications or sudden death. Myxomas |
db |
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may also develop on the skin and in internal organs. Skin myxomas appear as |
MeSH |
D056733 |
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small bumps on the surface of the skin or as lumps underneath the skin. In |
db |
key |
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Carney complex, myxomas have a tendency to recur after they are removed. |
OMIM |
160980 |
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html:p |
Individuals with Carney complex also develop tumors in hormone-producing |
db |
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(endocrine) glands, such as the adrenal glands located on top of each kidney. |
Orphanet |
1359 |
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People with this condition may develop a specific type of adrenal disease called |
db |
key |
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primary pigmented nodular adrenocortical disease (PPNAD). PPNAD causes the |
SNOMED CT |
239132009 |
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adrenal glands to produce an excess of the hormone cortisol. High levels of |
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cortisol (hypercortisolism) can lead to the development of Cushing syndrome. |
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This syndrome causes weight gain in the face and upper body, slowed growth in |
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children, fragile skin, fatigue, and other health problems. |
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html:p |
People with Carney complex may also develop tumors of other endocrine tissues, |
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including the thyroid, testes, and ovaries. A tumor called an adenoma may form |
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in the pituitary gland, which is located at the base of the brain. A pituitary |
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adenoma usually results in the production of too much growth hormone. Excess |
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growth hormone leads to acromegaly, a condition characterized by large hands and |
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feet, arthritis, and "coarse" facial features. |
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html:p |
Some people with Carney complex develop a rare tumor called psammomatous |
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melanotic schwannoma. This tumor occurs in specialized cells called Schwann |
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cells, which wrap around and insulate nerves. This tumor is usually benign, but |
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in some cases it can become cancerous (malignant). |
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html:p |
Almost all people with Carney complex have areas of unusual skin pigmentation. |
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Brown skin spots called lentigines may appear anywhere on the body but tend to |
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occur around the lips, eyes, or genitalia. In addition, some affected |
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individuals have at least one blue-black mole called a blue nevus. |
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related-gene-list |
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Carnitine-acylcarnitine translocase deficiency |
https://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency |
CACT deficiency is very rare; at least 30 cases have been reported. |
html:p |
Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that |
ar |
autosomal recessive |
SLC25A20 |
https://ghr.nlm.nih.gov/gene/SLC25A20 |
CACT deficiency |
db |
key |
2015-11 |
2017-12-29 |
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醯基肉鹼轉位酶缺乏症 |
|
prevents the body from using certain fats for energy, particularly during |
carnitine-acylcarnitine carrier deficiency |
GTR |
C0342791 |
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肉鹼轉位酶缺乏症? |
|
periods without food (fasting). Signs and symptoms of this disorder usually |
carnitine acylcarnitine translocase deficiency |
db |
key |
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begin soon after birth and may include breathing problems, seizures, and an |
MeSH |
D008052 |
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irregular heartbeat (arrhythmia). Affected individuals typically have low blood |
db |
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sugar (hypoglycemia) and a low level of ketones, which are produced during the |
OMIM |
212138 |
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breakdown of fats and used for energy. Together these signs are called |
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key |
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hypoketotic hypoglycemia. People with CACT deficiency also usually have excess |
Orphanet |
159 |
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ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), and a |
db |
key |
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weakened heart muscle (cardiomyopathy). |
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SNOMED CT |
238003000 |
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html:p |
Many infants with CACT deficiency do not survive the newborn period. Some |
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affected individuals have a less severe form of the condition and do not develop |
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signs and symptoms until early childhood. These individuals are at risk for |
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liver failure, nervous system damage, coma, and sudden death. |
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related-gene-list |
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Carnitine palmitoyltransferase I deficiency |
https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-i-deficiency |
CPT I deficiency is a rare disorder; fewer than 50 affected individuals |
html:p |
Carnitine palmitoyltransferase I (CPT I) deficiency is a condition that prevents |
ar |
autosomal recessive |
CPT1A |
https://ghr.nlm.nih.gov/gene/CPT1A |
carnitine palmitoyltransferase IA deficiency |
db |
key |
2014-04 |
2017-12-29 |
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肉鹼結合酵素缺乏症第yi型 |
have been identified. This disorder may be more common in the Hutterite and |
the body from using certain fats for energy, particularly during periods |
CPT 1A deficiency |
GTR |
C0342789 |
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Inuit populations. |
without food (fasting). The severity of this condition varies among affected |
CPT deficiency, hepatic, type I |
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individuals. |
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CPT I deficiency |
GeneReviews |
cpt1a |
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html:p |
Signs and symptoms of CPT I deficiency often appear during early childhood. |
liver form of carnitine palmitoyltransferase deficiency |
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key |
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Affected individuals usually have low blood sugar (hypoglycemia) and a low level |
MeSH |
D008052 |
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of ketones, which are produced during the breakdown of fats and used for |
db |
key |
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energy. Together these signs are called hypoketotic hypoglycemia. People with |
OMIM |
255120 |
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CPT I deficiency can also have an enlarged liver (hepatomegaly), liver |
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key |
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malfunction, and elevated levels of carnitine in the blood. Carnitine, a natural |
Orphanet |
156 |
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substance acquired mostly through the diet, is used by cells to process fats |
db |
key |
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and produce energy. Individuals with CPT I deficiency are at risk for nervous |
SNOMED CT |
238001003 |
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system damage, liver failure, seizures, coma, and sudden death. |
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html:p |
Problems related to CPT I deficiency can be triggered by periods of fasting or |
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by illnesses such as viral infections. This disorder is sometimes mistaken for |
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Reye syndrome, a severe disorder that may develop in children while they appear |
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to be recovering from viral infections such as chicken pox or flu. Most cases of |
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Reye syndrome are associated with the use of aspirin during these viral |
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infections. |
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related-gene-list |
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Carnitine palmitoyltransferase II deficiency |
https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency |
CPT II deficiency is a rare disorder. The lethal neonatal form has been |
html:p |
Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that |
ar |
autosomal recessive |
CPT2 |
https://ghr.nlm.nih.gov/gene/CPT2 |
carnitine palmitoyltransferase 2 deficiency |
db |
key |
2014-06 |
2017-12-29 |
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肉鹼結合酵素缺乏症第二型 |
described in at least 18 families, while the severe infantile |
prevents the body from using certain fats for energy, particularly during |
CPT II deficiency |
GTR |
C0342790 |
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hepatocardiomuscular form has been identified in approximately 30 families. The |
periods without food (fasting). There are three main types of CPT II deficiency: |
CPT2 deficiency |
db |
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myopathic form occurs most frequently, with more than 300 reported cases. |
a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a |
GTR |
C1833508 |
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myopathic form. |
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html:p |
The lethal neonatal form of CPT II deficiency becomes apparent soon after birth. |
GTR |
C1833511 |
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Infants with this form of the disorder develop respiratory failure, seizures, |
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liver failure, a weakened heart muscle (cardiomyopathy), and an irregular heart |
GTR |
C1833518 |
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beat (arrhythmia). Affected individuals also have low blood sugar (hypoglycemia) |
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and a low level of ketones, which are produced during the breakdown of fats and |
GeneReviews |
cpt2 |
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used for energy. Together these signs are called hypoketotic hypoglycemia. In |
db |
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many cases, the brain and kidneys are also structurally abnormal. Infants with |
ICD-10-CM |
E71.314 |
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the lethal neonatal form of CPT II deficiency usually live for a few days to a |
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few months. |
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MeSH |
D008052 |
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html:p |
The severe infantile hepatocardiomuscular form of CPT II deficiency affects the |
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liver, heart, and muscles. Signs and symptoms usually appear within the first |
OMIM |
255110 |
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year of life. This form involves recurring episodes of hypoketotic hypoglycemia, |
db |
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seizures, an enlarged liver (hepatomegaly), cardiomyopathy, and arrhythmia. |
OMIM |
600649 |
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Problems related to this form of CPT II deficiency can be triggered by periods |
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of fasting or by illnesses such as viral infections. Individuals with the severe |
OMIM |
608836 |
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infantile hepatocardiomuscular form of CPT II deficiency are at risk for liver |
db |
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failure, nervous system damage, coma, and sudden death. |
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Orphanet |
157 |
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html:p |
The myopathic form is the least severe type of CPT II deficiency. This form is |
db |
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characterized by recurrent episodes of muscle pain (myalgia) and weakness and is |
SNOMED CT |
238002005 |
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associated with the breakdown of muscle tissue (rhabdomyolysis). The |
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destruction of muscle tissue releases a protein called myoglobin, which is |
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processed by the kidneys and released in the urine (myoglobinuria). Myoglobin |
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causes the urine to be red or brown. This protein can also damage the kidneys, |
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in some cases leading to life-threatening kidney failure. Episodes of myalgia |
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and rhabdomyolysis may be triggered by exercise, stress, exposure to extreme |
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temperatures, infections, or fasting. The first episode usually occurs during |
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childhood or adolescence. Most people with the myopathic form of CPT II |
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deficiency have no signs or symptoms of the disorder between episodes. |
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related-gene-list |
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Carpenter syndrome |
https://ghr.nlm.nih.gov/condition/carpenter-syndrome |
Carpenter syndrome is thought to be a rare condition; approximately 70 |
html:p |
Carpenter syndrome is a condition characterized by the premature fusion of |
ar |
autosomal recessive |
MEGF8 |
https://ghr.nlm.nih.gov/gene/MEGF8 |
ACPS II |
db |
key |
2013-05 |
2017-12-29 |
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cases have been described in the scientific literature. |
certain skull bones (craniosynostosis), abnormalities of the fingers and toes, |
related-gene |
gene-symbol |
ghr-page |
acrocephalopolysyndactyly 2 |
GTR |
C1275078 |
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and other developmental problems. |
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RAB23 |
https://ghr.nlm.nih.gov/gene/RAB23 |
acrocephalopolysyndactyly type II |
db |
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html:p |
Craniosynostosis prevents the skull from growing normally, frequently giving the |
acrocephalosyndactyly, type II |
GTR |
C3554247 |
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head a pointed appearance (acrocephaly). In severely affected individuals, the |
type II acrocephalosyndactyly |
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abnormal fusion of the skull bones results in a deformity called a cloverleaf |
MeSH |
D000168 |
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skull. Craniosynostosis can cause differences between the two sides of the head |
db |
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and face (craniofacial asymmetry). Early fusion of the skull bones can affect |
OMIM |
201000 |
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the development of the brain and lead to increased pressure within the skull |
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(intracranial pressure). Premature fusion of the skull bones can cause several |
OMIM |
614976 |
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characteristic facial features in people with Carpenter syndrome. Distinctive |
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facial features may include a flat nasal bridge, outside corners of the eyes |
Orphanet |
65759 |
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that point downward (down-slanting palpebral fissures), low-set and abnormally |
db |
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shaped ears, underdeveloped upper and lower jaws, and abnormal eye shape. Some |
SNOMED CT |
205813009 |
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affected individuals also have dental abnormalities including small primary |
db |
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(baby) teeth. Vision problems also frequently occur. |
|
SNOMED CT |
403767009 |
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html:p |
Abnormalities of the fingers and toes include fusion of the skin between two or |
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more fingers or toes (cutaneous syndactyly), unusually short fingers or toes |
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(brachydactyly), or extra fingers or toes (polydactyly). In Carpenter syndrome, |
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cutaneous syndactyly is most common between the third (middle) and fourth (ring) |
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fingers, and polydactyly frequently occurs next to the big or second toe or the |
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fifth (pinky) finger. |
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html:p |
People with Carpenter syndrome often have intellectual disability, which can |
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range from mild to profound. However, some individuals with this condition have |
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normal intelligence. The cause of intellectual disability is unknown, as the |
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severity of craniosynostosis does not appear to be related to the severity of |
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intellectual disability. |
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html:p |
Other features of Carpenter syndrome include obesity that begins in childhood, a |
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soft out-pouching around the belly-button (umbilical hernia), hearing loss, and |
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heart defects. Additional skeletal abnormalities such as deformed hips, a |
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rounded upper back that also curves to the side (kyphoscoliosis), and knees that |
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are angled inward (genu valgum) frequently occur. Nearly all affected males |
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have genital abnormalities, most frequently undescended testes (cryptorchidism). |
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html:p |
A few people with Carpenter syndrome have organs or tissues within their chest |
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and abdomen that are in mirror-image reversed positions. This abnormal placement |
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may affect several internal organs (situs inversus); just the heart |
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(dextrocardia), placing the heart on the right side of the body instead of on |
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the left; or only the major (great) arteries of the heart, altering blood flow. |
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html:p |
The signs and symptoms of this disorder vary considerably, even within the same |
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family. The life expectancy for individuals with Carpenter syndrome is shortened |
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but extremely variable. |
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html:p |
The signs and symptoms of Carpenter syndrome are similar to another genetic |
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condition called Greig cephalopolysyndactyly syndrome. The overlapping features, |
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which include craniosynostosis, polydactyly, and heart abnormalities, can cause |
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these two conditions to be misdiagnosed; genetic testing is often required for |
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an accurate diagnosis. |
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related-gene-list |
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Cartilage-hair hypoplasia |
https://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia |
Cartilage-hair hypoplasia occurs most often in the Old Order Amish |
html:p |
Cartilage-hair hypoplasia is a disorder of bone growth characterized by short |
ar |
autosomal recessive |
RMRP |
https://ghr.nlm.nih.gov/gene/RMRP |
cartilage-hair syndrome |
db |
key |
2015-03 |
2017-12-29 |
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軟骨髮質發育不全 |
population, where it affects about 1 in 1,300 newborns. In people of Finnish |
stature (dwarfism) with other skeletal abnormalities; fine, sparse hair |
CHH |
GTR |
C0220748 |
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descent, its incidence is approximately 1 in 20,000. Outside of these |
(hypotrichosis); and abnormal immune system function (immune deficiency) that |
McKusick's metaphyseal chondrodysplasia syndrome |
db |
key |
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populations, the condition is rare, and its specific incidence is not known. It |
can lead to recurrent infections. |
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metaphyseal chondrodysplasia, McKusick type |
GeneReviews |
chh |
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has been reported in individuals of European and Japanese descent. |
html:p |
People with cartilage-hair hypoplasia have unusually short limbs and short |
metaphyseal chondrodysplasia, recessive type |
db |
key |
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stature from birth. They typically have malformations in the cartilage near the |
MeSH |
D004392 |
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ends of the long bones in the arms and legs (metaphyseal chondrodysplasia), |
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which then affects development of the bone itself. Most people with |
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OMIM |
250250 |
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cartilage-hair hypoplasia are unusually flexible in some joints, but they may |
db |
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have difficulty extending their elbows fully. |
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Orphanet |
175 |
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html:p |
Affected individuals have hair that is lighter in color than that of other |
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key |
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family members because the core of each hair, which contains some of the pigment |
SNOMED CT |
7720002 |
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that contributes the hair's color, is missing. The missing core also makes each |
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strand of hair thinner, causing the hair to have a sparse appearance overall. |
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Unusually light-colored skin (hypopigmentation), malformed nails, and dental |
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abnormalities may also be seen in this disorder. |
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html:p |
The extent of the immune deficiency in cartilage-hair hypoplasia varies from |
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mild to severe. Affected individuals with the most severe immune problems are |
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considered to have severe combined immunodeficiency (SCID). People with SCID |
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lack virtually all immune protection from bacteria, viruses, and fungi and are |
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prone to repeated and persistent infections that can be very serious or |
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life-threatening. These infections are often caused by "opportunistic" organisms |
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that ordinarily do not cause illness in people with a normal immune system. |
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Most people with cartilage-hair hypoplasia, even those who have milder immune |
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deficiency, experience infections of the respiratory system, ears, and sinuses. |
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In particular, the chicken pox virus (varicella) often causes dangerous |
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infections in people with this disorder. Autoimmune disorders, which occur when |
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the immune system malfunctions and attacks the body's tissues and organs, occur |
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in some people with cartilage-hair hypoplasia. Affected individuals are also at |
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an increased risk of developing cancer, particularly certain skin cancers (basal |
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cell carcinomas), cancer of blood-forming cells (leukemia), and cancer of |
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immune system cells (lymphoma). |
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html:p |
Some people with cartilage-hair hypoplasia experience gastrointestinal problems. |
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These problems may include an inability to properly absorb nutrients or |
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intolerance of a protein called gluten found in wheat and other grains (celiac |
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disease). Affected individuals may have Hirschsprung disease, an intestinal |
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disorder that causes severe constipation, intestinal blockage, and enlargement |
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of the colon. Narrowing of the anus (anal stenosis) or blockage of the esophagus |
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(esophageal atresia) may also occur. |
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inheritance-pattern-list |
related-gene-list |
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CASK-related intellectual disability |
https://ghr.nlm.nih.gov/condition/cask-related-intellectual-disability |
The prevalence of CASK-related intellectual disability is unknown. More |
html:p |
CASK-related intellectual disability is a disorder of brain development that has two main |
xd |
X-linked dominant |
CASK |
synonym |
db-key |
db |
key |
2014-03 |
2017-12-29 |
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than 50 females with MICPCH have been described in the medical literature, while |
forms: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked |
synonym |
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GTR |
C2677903 |
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only a few affected males have been described.By contrast, more than 20 males |
intellectual disability (XL-ID) with or without nystagmus. Within each of these forms, |
db-key |
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but only a few females have been diagnosed with the milder form of the disorder, |
males typically have more severe signs and symptoms than do females; the more severe MICPCH |
GeneReviews |
cask-dis |
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XL-ID with or without nystagmus. This form of the disorder may go unrecognized |
mostly affects females, likely because only a small number of males survive to birth. |
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in mildly affected females. |
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MeSH |
D008607 |
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html:p |
People with MICPCH often have an unusually small head at birth, and the head |
db-key |
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does not grow at the same rate as the rest of the body, so it appears that the |
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OMIM |
300422 |
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head is getting smaller as the body grows (progressive microcephaly). |
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Individuals with this condition have underdevelopment (hypoplasia) of areas of |
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OMIM |
300749 |
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the brain called the cerebellum and the pons. The cerebellum is the part of the |
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brain that coordinates movement. The pons is located at the base of the brain in |
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Orphanet |
163937 |
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an area called the brainstem, where it transmits signals from the cerebellum to |
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the rest of the brain. |
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SNOMED CT |
703389002 |
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html:p |
Individuals with MICPCH have intellectual disability that is usually severe. |
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They may have sleep disturbances and exhibit self-biting, hand flapping, or |
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other abnormal repetitive behaviors. Seizures are also common in this form of |
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the disorder. |
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html:p |
People with MICPCH do not usually develop language skills, and most do not learn |
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to walk. They have hearing loss caused by nerve problems in the inner ear |
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(sensorineural hearing loss), and most also have abnormalities affecting the |
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eyes. These abnormalities include underdevelopment of the nerves that carry |
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information from the eyes to the brain (optic nerve hypoplasia), breakdown of |
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the light-sensing tissue at the back of the eyes (retinopathy), and eyes that do |
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not look in the same direction (strabismus). Characteristic facial features may |
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include arched eyebrows; a short, broad nose; a lengthened area between the |
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nose and mouth (philtrum); a protruding upper jaw (maxilla); a short chin; and |
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large ears. |
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html:p |
Individuals with MICPCH may have weak muscle tone (hypotonia) in the torso along |
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with increased muscle tone (hypertonia) and stiffness (spasticity) in the |
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limbs. Movement problems such as involuntary tensing of various muscles |
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(dystonia) may also occur in this form of the disorder. |
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html:p |
XL-ID with or without nystagmus (rapid, involuntary eye movements) is a milder |
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form of CASK-related intellectual disability. The intellectual disability in this form |
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of the disorder can range from mild to severe; some affected females have |
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normal intelligence. About half of affected individuals have nystagmus. |
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Seizures and rhythmic shaking (tremors) may also occur in this form. |
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Cat Eye Syndrome, CES |
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貓眼症候群 |
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related-gene-list |
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Catecholaminergic polymorphic ventricular tachycardia |
https://ghr.nlm.nih.gov/condition/catecholaminergic-polymorphic-ventricular-tach |
The prevalence of CPVT is estimated to be about 1 in 10,000 people. |
html:p |
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition |
ad |
autosomal dominant |
CASQ2 |
https://ghr.nlm.nih.gov/gene/CASQ2 |
bidirectional tachycardia induced by catecholamines |
db |
key |
2009-12 |
2017-12-29 |
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儿茶酚胺敏感性室性心动过速 |
ycardia |
However, the true prevalence of this condition is unknown. |
characterized by an abnormal heart rhythm (arrhythmia). As the heart rate |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Catecholamine-induced polymorphic ventricular tachycardia |
GTR |
C1631597 |
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increases in response to physical activity or emotional stress, it can trigger |
ar |
autosomal recessive |
RYR2 |
https://ghr.nlm.nih.gov/gene/RYR2 |
CPVT |
db |
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an abnormally fast and irregular heartbeat called ventricular tachycardia. |
familial polymorphic ventricular tachycardia |
GTR |
C2677794 |
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Episodes of ventricular tachycardia can cause light-headedness, dizziness, and |
FPVT |
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fainting (syncope). In people with CPVT, these episodes typically begin in |
GeneReviews |
cvt |
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childhood. |
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db |
key |
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html:p |
If CPVT is not recognized and treated, an episode of ventricular tachycardia may |
ICD-10-CM |
I47.2 |
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cause the heart to stop beating (cardiac arrest), leading to sudden death. |
db |
key |
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Researchers suspect that CPVT may be a significant cause of sudden death in |
MeSH |
D017180 |
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children and young adults without recognized heart abnormalities. |
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db |
key |
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OMIM |
604772 |
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db |
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OMIM |
611938 |
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db |
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Orphanet |
3286 |
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db |
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inheritance-pattern-list |
related-gene-list |
SNOMED CT |
419671004 |
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CATSPER1-related nonsyndromic male infertility |
https://ghr.nlm.nih.gov/condition/catsper1-related-nonsyndromic-male-infertility |
The prevalence of CATSPER1-related nonsyndromic male infertility is |
html:p |
CATSPER1-related nonsyndromic male infertility is a condition |
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ar |
autosomal recessive |
ghr-page |
CATSPER-related nonsyndromic male infertility |
db-key |
db |
key |
2010-04 |
2017-12-29 |
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unknown. |
that affects the function of sperm, leading to an inability to father children. Males |
https://ghr.nlm.nih.gov/gene/CATSPER1 |
CATSPER1-related male infertility |
GTR |
C2751811 |
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with this condition produce sperm that have decreased movement |
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db-key |
db |
key |
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(motility). Affected men may also produce a smaller than usual number |
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GeneReviews |
catsper-mi |
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of sperm cells or sperm cells that are abnormally shaped. Men with |
-related nonsyndromic male infertility do not have any other symptoms related to |
db-key |
db |
key |
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CATSPER1-related nonsyndromic male infertility do not have any |
this condition. |
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MeSH |
D007248 |
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other symptoms related to this condition. |
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db-key |
db |
key |
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OMIM |
612997 |
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db-key |
db |
key |
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synonym-list |
db-key-list |
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SNOMED CT |
236792002 |
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Caudal regression syndrome |
https://ghr.nlm.nih.gov/condition/caudal-regression-syndrome |
Caudal regression syndrome is estimated to occur in 1 to 2.5 per 100,000 |
html:p |
Caudal regression syndrome is a disorder that impairs the development of the |
u |
pattern unknown |
synonym |
caudal dysplasia sequence |
key |
2017-12-29 |
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newborns. This condition is much more common in infants born to mothers with |
lower (caudal) half of the body. Affected areas can include the lower back and |
synonym |
caudal regression sequence |
db-key |
C0300948 |
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diabetes when it affects an estimated 1 in 350 newborns. |
limbs, the genitourinary tract, and the gastrointestinal tract. |
synonym |
sacral agenesis |
key |
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html:p |
In this disorder, the bones of the lower spine (vertebrae) are frequently |
synonym |
sacral defect with anterior meningocele |
db-key |
D013118 |
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misshapen or missing, and the corresponding sections of the spinal cord are also |
key |
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irregular or missing. Affected individuals may have incomplete closure of the |
db-key |
600145 |
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vertebrae around the spinal cord, a fluid-filled sac on the back covered by skin |
key |
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that may or may not contain part of the spinal cord, or tufts of hair at the |
db-key |
3027 |
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base of the spine. People with caudal regression syndrome can also have an |
key |
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abnormal side-to-side curvature of the spine (scoliosis). The spinal |
db-key |
205425003 |
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abnormalities may affect the size and shape of the chest, leading to breathing |
key |
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problems in some individuals. |
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db-key |
253189008 |
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html:p |
Individuals with caudal regression syndrome may have small hip bones with a |
key |
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limited range of motion. The buttocks tend to be flat and dimpled. The bones of |
db-key |
253191000 |
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the legs are typically underdeveloped, most frequently the upper leg bones |
key |
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(femurs). In some individuals, the legs are bent with the knees pointing out to |
8301004 |
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the side and the feet tucked underneath the hips (sometimes called a frog |
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leg-like position). Affected individuals may be born with inward- and |
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upward-turning feet (clubfeet), or the feet may be outward- and upward-turning |
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(calcaneovalgus). Some people experience decreased sensation in their lower |
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limbs. |
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html:p |
Abnormalities in the genitourinary tract in caudal regression syndrome are |
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extremely varied. Often the kidneys are malformed; defects include a missing |
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kidney (unilateral renal agenesis), kidneys that are fused together (horseshoe |
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kidney), or duplication of the tubes that carry urine from each kidney to the |
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bladder (ureteral duplication). These kidney abnormalities can lead to frequent |
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urinary tract infections and progressive kidney failure. Additionally, affected |
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individuals may have protrusion of the bladder through an opening in the |
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abdominal wall (bladder exstrophy). Damage to the nerves that control bladder |
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function, a condition called neurogenic bladder, causes affected individuals to |
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have progressive difficulty controlling the flow of urine. Genital abnormalities |
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in males can include the urethra opening on the underside of the penis |
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(hypospadia) or undescended testes (cryptorchidism). Females may have an |
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abnormal connection between the rectum and vagina (rectovaginal fistula). In |
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severe cases, both males and females have a lack of development of the genitalia |
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(genital agenesis). |
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html:p |
People with caudal regression syndrome may have abnormal twisting (malrotation) |
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of the large intestine, an obstruction of the anal opening (imperforate anus), |
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soft out-pouchings in the lower abdomen (inguinal hernias), or other |
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malformations of the gastrointestinal tract. Affected individuals are often |
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constipated and may experience loss of control of bladder and bowel function. |
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inheritance-pattern-list |
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CAV3-related distal myopathy |
https://ghr.nlm.nih.gov/condition/cav3-related-distal-myopathy |
The prevalence of CAV3-related distal myopathy is unknown. Only a few |
html:p |
html:i |
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ad |
autosomal dominant |
gene-symbol |
synonym |
distal myopathy, Tateyama type |
db-key |
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2014-05 |
2017-12-29 |
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affected individuals have been described in the medical literature. |
CAV3 |
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CAV3 |
synonym |
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GTR |
C3280443 |
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db-key |
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-related distal myopathy experience wasting (atrophy) and weakness of the small |
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GeneReviews |
cav |
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muscles in the hands and feet that generally become noticeable in adulthood. A |
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bump or other sudden impact on the muscles, especially those in the forearms, |
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MeSH |
D049310 |
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may cause them to exhibit repetitive tensing (percussion-induced rapid |
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contraction). The rapid contractions can continue for up to 30 seconds and may |
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OMIM |
614321 |
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html:i |
-related distal myopathy. The muscles closer to the center of the body (proximal |
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CAV3 |
muscles) such as the thighs and upper arms are normal in this condition. |
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SNOMED CT |
711265009 |
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related-gene-list |
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CDKL5 deficiency disorder |
https://ghr.nlm.nih.gov/condition/cdkl5-deficiency-disorder |
CDKL5 deficiency disorder appears to be a rare condition. More than 1,000 |
html:p |
CDKL5 deficiency disorder is characterized by seizures that begin in infancy, |
xd |
X-linked dominant |
CDKL5 |
https://ghr.nlm.nih.gov/gene/CDKL5 |
CDKL5 deficiency |
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2017-11 |
2017-12-29 |
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cases have been reported worldwide. |
followed by significant delays in many aspects of development. |
CDKL5 disorder |
GTR |
C1839333 |
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html:p |
Seizures in CDKL5 deficiency disorder usually begin within the first 3 months of |
CDKL5 encephalopathy |
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life, and they can appear as early as the first week after birth. The types of |
CDKL5-related epilepsy |
MeSH |
D013036 |
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seizures change with age, and they usually follow a predictable pattern. |
CDKL5-related epileptic encephalopathy |
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Seizures occur daily in most affected individuals, and they are resistant to |
early infantile epileptic encephalopathy 2 |
Orphanet |
3095 |
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treatment. |
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html:p |
Development is impaired in children with CDKL5 deficiency disorder. Most have |
SNOMED CT |
718393002 |
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severe intellectual disability and little or no speech. The development of gross |
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motor skills, such as sitting, standing, and walking, is delayed. About |
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one-third of affected individuals are able to walk independently. Fine motor |
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skills, such as picking up small objects with the fingers, are also impaired; |
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about half of affected individuals have purposeful use of their hands. |
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html:p |
Other common features of CDKL5 deficiency disorder include repetitive hand |
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movements (stereotypies), such as clapping, hand licking, and hand sucking; |
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tooth grinding (bruxism); disrupted sleep; feeding difficulties; and |
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gastrointestinal problems including constipation and backflow of acidic stomach |
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contents into the esophagus (gastroesophageal reflux). Some affected individuals |
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have episodes of irregular breathing. Distinctive facial features in some |
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people with CDKL5 deficiency disorder include a high and broad forehead, large |
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and deep-set eyes, a well-defined space between the nose and upper lip |
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(philtrum), full lips, widely spaced teeth, and a high roof of the mouth |
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(palate). Other physical differences can also occur, such as an unusually small |
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head size (microcephaly), side-to-side curvature of the spine (scoliosis), and |
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tapered fingers. |
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html:p |
About 90 percent of people diagnosed with CDKL5 deficiency disorder are female. |
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Affected males tend to have more severe developmental disabilities, including |
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profound intellectual disability and almost no development of gross and fine |
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motor skills. |
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html:p |
CDKL5 deficiency disorder was previously classified as an atypical form of Rett |
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syndrome. These conditions have overlapping features, including seizures, |
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intellectual disability, and other problems with development. However, the signs |
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and symptoms associated with CDKL5 deficiency disorder and its genetic cause |
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are distinct from those of Rett syndrome, and CDKL5 deficiency disorder is now |
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considered a separate condition. |
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related-gene-list |
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Celiac disease |
https://ghr.nlm.nih.gov/condition/celiac-disease |
Celiac disease is a common disorder. Its prevalence has been estimated at |
html:p |
Celiac disease is a condition in which the immune system is abnormally sensitive |
u |
pattern unknown |
HLA-DQA1 |
https://ghr.nlm.nih.gov/gene/HLA-DQA1 |
celiac sprue |
db |
key |
2015-09 |
2017-12-29 |
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乳糜瀉 |
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about 1 in 100 people worldwide. |
to gluten, a protein found in wheat, rye, and barley. Celiac disease is an |
related-gene |
gene-symbol |
ghr-page |
gluten enteropathy |
GTR |
C0007570 |
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麥麩/麵筋不耐症 |
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autoimmune disorder; autoimmune disorders occur when the immune system |
HLA-DQB1 |
https://ghr.nlm.nih.gov/gene/HLA-DQB1 |
sprue |
db |
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malfunctions and attacks the body's own tissues and organs. Without a strict, |
GeneReviews |
celiac |
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lifelong gluten-free diet, inflammation resulting from immune system |
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overactivity may cause a wide variety of signs and symptoms involving many parts |
ICD-10-CM |
K90.0 |
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of the body. |
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db |
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html:p |
Celiac disease can develop at any age after an individual starts eating foods |
MeSH |
D002446 |
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containing gluten. The classic symptoms of the condition result from |
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inflammation affecting the gastrointestinal tract. This inflammation damages the |
OMIM |
212750 |
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villi, which are small, finger-like projections that line the small intestine |
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and provide a greatly increased surface area to absorb nutrients. In celiac |
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disease, the villi become shortened and eventually flatten out. Intestinal |
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damage causes diarrhea and poor absorption of nutrients, which may lead to |
SNOMED CT |
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weight loss. Abdominal pain, swelling (distention), and food intolerances are |
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common in celiac disease. Inflammation associated with celiac disease may lead |
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to an increased risk of developing certain gastrointestinal cancers such as |
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cancers of the small intestine or esophagus. |
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Inflammation and poor nutrient absorption may lead to problems affecting many |
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other organs and systems of the body in affected individuals. These health |
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problems may include iron deficiency that results in a low number of red blood |
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cells (anemia), vitamin deficiencies, low bone mineral density (osteoporosis), |
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itchy skin rashes (dermatitis herpetiformis), defects in the enamel of the |
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teeth, chronic fatigue, joint pain, poor growth, delayed puberty, infertility, |
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or repeated miscarriages. Neurological problems have also been associated with |
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celiac disease; these include migraine headaches, depression, attention deficit |
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hyperactivity disorder (ADHD), and recurrent seizures (epilepsy). Many people |
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with celiac disease have one or more of these varied health problems but do not |
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have gastrointestinal symptoms. This form of the condition is called nonclassic |
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celiac disease. Researchers now believe that nonclassic celiac disease is |
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actually more common than the classic form. |
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html:p |
Celiac disease often goes undiagnosed because many of its signs and symptoms are |
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nonspecific, which means they may occur in many disorders. Most people who have |
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one or more of these nonspecific health problems do not have celiac disease. On |
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average, a diagnosis of celiac disease is not made until 6 to 10 years after |
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symptoms begin. |
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html:p |
Some people have silent celiac disease, in which they have no symptoms of the |
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disorder. However, people with silent celiac disease do have immune proteins in |
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their blood (antibodies) that are common in celiac disease. They also have |
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inflammatory damage to their small intestine that can be detected with a biopsy. |
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html:p |
In a small number of cases, celiac disease does not improve with a gluten-free |
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diet and progresses to a condition called refractory sprue. Refractory sprue is |
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characterized by chronic inflammation of the gastrointestinal tract, poor |
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absorption of nutrients, and an increased risk of developing a type of cancer of |
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the immune cells called T-cell lymphoma. |
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related-gene-list |
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Central core disease |
https://ghr.nlm.nih.gov/condition/central-core-disease |
Central core disease is probably an uncommon condition, although its |
html:p |
Central core disease is a disorder that affects muscles used for movement |
ad |
autosomal dominant |
RYR1 |
https://ghr.nlm.nih.gov/gene/RYR1 |
CCD |
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2007-10 |
2017-12-29 |
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Central core myopathy |
incidence is unknown. |
(skeletal muscles). This condition causes muscle weakness that ranges from |
code |
memo |
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CCO |
GTR |
C0751951 |
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肌中央軸空病 |
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almost unnoticeable to very severe. |
ar |
autosomal recessive |
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Central Core Myopathy |
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html:p |
Most people with central core disease experience persistent, mild muscle |
Myopathy, Central Core |
GeneReviews |
cco |
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weakness that does not worsen with time. This weakness affects the muscles near |
Shy-Magee Syndrome |
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the center of the body (proximal muscles), particularly muscles in the upper |
MeSH |
D020512 |
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legs and hips. Muscle weakness causes affected infants to appear "floppy" and |
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can delay the development of motor skills such as sitting, standing, and |
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OMIM |
117000 |
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walking. In severe cases, affected infants experience profoundly weak muscle |
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tone (hypotonia) and serious or life-threatening breathing problems. Central |
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597 |
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core disease is also associated with skeletal abnormalities such as abnormal |
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curvature of the spine (scoliosis), hip dislocation, and joint deformities |
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SNOMED CT |
43152001 |
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called contractures that restrict the movement of certain joints. |
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html:p |
Many people with central core disease also have an increased risk of developing |
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a severe reaction to certain drugs used during surgery and other invasive |
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procedures. This reaction is called malignant hyperthermia. Malignant |
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hyperthermia occurs in response to some anesthetic gases, which are used to |
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block the sensation of pain, and with a particular type of muscle relaxant. If |
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given these drugs, people at risk for malignant hyperthermia may experience |
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muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever, |
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increased acid levels in the blood and other tissues (acidosis), and a rapid |
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heart rate. The complications of malignant hyperthermia can be life-threatening |
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unless they are treated promptly. |
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html:p |
Central core disease gets its name from disorganized areas called cores, which |
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are found in the center of muscle fibers in many affected individuals. These |
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abnormal regions can only be seen under a microscope. Although the presence of |
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cores can help doctors diagnose central core disease, it is unclear how they are |
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related to muscle weakness and the other features of this condition. |
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related-gene-list |
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Central precocious puberty |
https://ghr.nlm.nih.gov/condition/central-precocious-puberty |
Central precocious puberty is estimated to affect 1 in 5,000 to 10,000 |
html:p |
Central precocious puberty is a condition that causes early sexual development |
ad |
autosomal dominant |
KISS1 |
https://ghr.nlm.nih.gov/gene/KISS1 |
CPP |
db |
key |
2016-10 |
2017-12-29 |
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中枢性性早熟 |
girls. The condition is less common in boys, although the prevalence is unknown. |
in girls and boys. While puberty normally starts between ages 8 and 13 in girls |
related-gene |
gene-symbol |
ghr-page |
gonadotropin-dependent precocious puberty |
GTR |
C0342543 |
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and between ages 9 and 14 in boys, girls with central precocious puberty begin |
KISS1R |
https://ghr.nlm.nih.gov/gene/KISS1R |
db |
key |
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exhibiting signs before age 8, and boys with this disorder begin before age 9. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3809199 |
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Signs of puberty include development of pubic and underarm hair, a rapid |
MKRN3 |
https://ghr.nlm.nih.gov/gene/MKRN3 |
db |
key |
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increase in height (commonly referred to as a "growth spurt"), acne, and |
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ICD-10-CM |
E30.1 |
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underarm odor. Girls also develop breasts and begin their menstrual periods. |
db |
key |
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Boys have growth of the penis and testes and deepening of the voice. Because of |
MeSH |
D011629 |
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the early growth spurt, children with central precocious puberty may be taller |
db |
key |
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than their peers; however, they may stop growing abnormally early. Without |
OMIM |
176400 |
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proper treatment, some affected individuals are shorter in adulthood compared |
db |
key |
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with other members of their family. Developing ahead of their peers can be |
OMIM |
615346 |
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emotionally difficult for affected individuals and may lead to psychological and |
db |
key |
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behavioral problems. |
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Orphanet |
759 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
237816004 |
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Centronuclear myopathy |
https://ghr.nlm.nih.gov/condition/centronuclear-myopathy |
Centronuclear myopathy is a rare condition; its exact prevalence is |
html:p |
Centronuclear myopathy is a condition characterized by muscle weakness |
ad |
autosomal dominant |
BIN1 |
https://ghr.nlm.nih.gov/gene/BIN1 |
CNM |
db |
key |
2015-11 |
2017-12-29 |
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中央核肌肉病變 |
unknown. |
(myopathy) and wasting (atrophy) in the skeletal muscles, which are the muscles |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
myopathy, centronuclear |
GTR |
C0410204 |
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used for movement. The severity of centronuclear myopathy varies among affected |
ar |
autosomal recessive |
CCDC78 |
https://ghr.nlm.nih.gov/gene/CCDC78 |
db |
key |
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individuals, even among members of the same family. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1834558 |
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html:p |
People with centronuclear myopathy begin experiencing muscle weakness at any |
DNM2 |
https://ghr.nlm.nih.gov/gene/DNM2 |
db |
key |
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time from birth to early adulthood. The muscle weakness slowly worsens over time |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3553709 |
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and can lead to delayed development of motor skills, such as crawling or |
RYR1 |
https://ghr.nlm.nih.gov/gene/RYR1 |
db |
key |
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walking; muscle pain during exercise; and difficulty walking. Some affected |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C4014814 |
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individuals may need wheelchair assistance as the muscles atrophy and weakness |
SPEG |
https://ghr.nlm.nih.gov/gene/SPEG |
db |
key |
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becomes more severe. In rare instances, the muscle weakness improves over time. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
CN221282 |
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html:p |
Some people with centronuclear myopathy experience mild to severe breathing |
TTN |
https://ghr.nlm.nih.gov/gene/TTN |
db |
key |
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problems related to the weakness of muscles needed for breathing. People with |
ICD-10-CM |
G71.2 |
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centronuclear myopathy may have droopy eyelids (ptosis) and weakness in other |
db |
key |
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facial muscles, including the muscles that control eye movement. People with |
MeSH |
D020914 |
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this condition may also have foot abnormalities, a high arch in the roof of the |
db |
key |
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mouth (high-arched palate), and abnormal side-to-side curvature of the spine |
OMIM |
160150 |
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(scoliosis). Rarely, individuals with centronuclear myopathy have a weakened |
db |
key |
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heart muscle (cardiomyopathy), disturbances in nerve function (neuropathy), or |
OMIM |
255200 |
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intellectual disability. |
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db |
key |
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html:p |
A key feature of centronuclear myopathy is the displacement of the nucleus in |
OMIM |
614807 |
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muscle cells, which can be viewed under a microscope. Normally the nucleus is |
db |
key |
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found at the edges of the rod-shaped muscle cells, but in people with |
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OMIM |
615959 |
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centronuclear myopathy the nucleus is located in the center of these cells. How |
db |
key |
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the change in location of the nucleus affects muscle cell function is unknown. |
Orphanet |
595 |
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db |
key |
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Orphanet |
169186 |
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db |
key |
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Orphanet |
169189 |
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db |
key |
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SNOMED CT |
240081004 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
716696006 |
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) |
https://ghr.nlm.nih.gov/condition/cerebral-autosomal-dominant-arteriopathy-with- |
CADASIL is likely a rare condition; however, its prevalence is unknown. |
html:p |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and |
ad |
autosomal dominant |
NOTCH3 |
https://ghr.nlm.nih.gov/gene/NOTCH3 |
CADASIL |
db |
key |
2013-05 |
2017-12-29 |
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體顯性腦動脈血管病變合併皮質下腦梗塞及腦白質病變 |
subcortical-infarcts-and-leukoencephalopathy |
leukoencephalopathy, usually called CADASIL, is an inherited condition that |
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy |
GTR |
C1272305 |
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causes stroke and other impairments. This condition affects blood flow in small |
familial vascular leukoencephalopathy |
db |
key |
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blood vessels, particularly cerebral vessels within the brain. The muscle cells |
hereditary dementia, multi-infarct type |
GeneReviews |
cadasil |
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surrounding these blood vessels (vascular smooth muscle cells) are abnormal and |
db |
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gradually die. In the brain, the resulting blood vessel damage (arteriopathy) |
MeSH |
D046589 |
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can cause migraines, often with visual sensations or auras, or recurrent |
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seizures (epilepsy). |
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OMIM |
125310 |
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html:p |
Damaged blood vessels reduce blood flow and can cause areas of tissue death |
db |
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(infarcts) throughout the body. An infarct in the brain can lead to a stroke. In |
Orphanet |
136 |
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individuals with CADASIL, a stroke can occur at any time from childhood to late |
db |
key |
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adulthood, but typically happens during mid-adulthood. People with CADASIL |
SNOMED CT |
390936003 |
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often have more than one stroke in their lifetime. Recurrent strokes can damage |
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the brain over time. Strokes that occur in the subcortical region of the brain, |
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which is involved in reasoning and memory, can cause progressive loss of |
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intellectual function (dementia) and changes in mood and personality. |
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html:p |
Many people with CADASIL also develop leukoencephalopathy, which is a change in |
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a type of brain tissue called white matter that can be seen with magnetic |
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resonance imaging (MRI). |
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html:p |
The age at which the signs and symptoms of CADASIL first begin varies greatly |
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among affected individuals, as does the severity of these features. |
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html:p |
CADASIL is not associated with the common risk factors for stroke and heart |
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attack, such as high blood pressure and high cholesterol, although some affected |
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individuals might also have these health problems. |
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related-gene-list |
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Cerebral autosomal recessive arteriopathy with subcortical infarcts and |
https://ghr.nlm.nih.gov/condition/cerebral-autosomal-recessive-arteriopathy-with |
CARASIL appears to be a rare condition. It has been identified in about 50 |
html:p |
Cerebral autosomal recessive arteriopathy with subcortical infarcts and |
ar |
autosomal recessive |
HTRA1 |
https://ghr.nlm.nih.gov/gene/HTRA1 |
CARASIL |
db |
key |
2011-04 |
2017-12-29 |
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leukoencephalopathy |
-subcortical-infarcts-and-leukoencephalopathy |
people, primarily in Japan and China. |
leukoencephalopathy, commonly known as CARASIL, is an inherited condition that |
familial young-adult-onset arteriosclerotic leukoencephalopathy with alopecia |
GTR |
C1838577 |
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causes stroke and other impairments. |
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and lumbago without arterial hypertension |
db |
key |
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html:p |
Abnormalities affecting the brain and other parts of the nervous system become |
Maeda syndrome |
GeneReviews |
carasil |
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apparent in an affected person's twenties or thirties. Often, muscle stiffness |
Nemoto disease |
db |
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(spasticity) in the legs and problems with walking are the first signs of the |
MeSH |
D002539 |
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disorder. About half of affected individuals have a stroke or similar episode |
db |
key |
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before age 40. As the disease progresses, most people with CARASIL also develop |
OMIM |
600142 |
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mood and personality changes, a decline in thinking ability (dementia), memory |
db |
key |
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loss, and worsening problems with movement. |
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Orphanet |
199354 |
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html:p |
Other characteristic features of CARASIL include premature hair loss (alopecia) |
db |
key |
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and attacks of low back pain. The hair loss often begins during adolescence and |
SNOMED CT |
703219008 |
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is limited to the scalp. Back pain, which develops in early to mid-adulthood, |
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results from the breakdown (degeneration) of the discs that separate the bones |
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of the spine (vertebrae) from one another. |
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html:p |
The signs and symptoms of CARASIL worsen slowly with time. Over the course of |
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several years, affected individuals become less able to control their emotions |
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and communicate with others. They increasingly require help with personal care |
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and other activities of daily living; after a few years, they become unable to |
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care for themselves. Most affected individuals die within a decade after signs |
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and symptoms first appear, although few people with the disease have survived |
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for 20 to 30 years. |
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related-gene-list |
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Cerebral cavernous malformation |
https://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation |
Cerebral cavernous malformations affect about 0.5 percent of the population |
html:p |
Cerebral cavernous malformations are collections of small blood vessels |
ad |
autosomal dominant |
CCM2 |
https://ghr.nlm.nih.gov/gene/CCM2 |
CCM |
db |
key |
2012-11 |
2017-12-29 |
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腦海綿狀血管瘤 |
worldwide. |
(capillaries) in the brain that are enlarged and irregular in structure. These |
related-gene |
gene-symbol |
ghr-page |
central nervous system cavernous hemangioma |
GTR |
C1366911 |
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capillaries have abnormally thin walls, and they lack other support tissues, |
KRIT1 |
https://ghr.nlm.nih.gov/gene/KRIT1 |
cerebral cavernous hemangioma |
db |
key |
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such as elastic fibers, which normally make them stretchy. As a result, the |
related-gene |
gene-symbol |
ghr-page |
familial cavernous hemangioma |
GTR |
C1861784 |
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blood vessels are prone to leakage, which can cause the health problems related |
PDCD10 |
https://ghr.nlm.nih.gov/gene/PDCD10 |
familial cavernous malformation |
db |
key |
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to this condition. Cavernous malformations can occur anywhere in the body, but |
familial cerebral cavernous angioma |
GTR |
C1864040 |
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usually produce serious signs and symptoms only when they occur in the brain and |
familial cerebral cavernous malformation |
db |
key |
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spinal cord (which are described as cerebral). |
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intracerebral cavernous hemangioma |
GTR |
C1864041 |
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html:p |
Approximately 25 percent of individuals with cerebral cavernous malformations |
db |
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never experience any related health problems. Other people with this condition |
GeneReviews |
ccm |
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may experience serious signs and symptoms such as headaches, seizures, |
db |
key |
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paralysis, hearing or vision loss, and bleeding in the brain (cerebral |
MeSH |
D020786 |
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hemorrhage). Severe brain hemorrhages can result in death. The location and |
db |
key |
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number of cerebral cavernous malformations determine the severity of this |
OMIM |
116860 |
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disorder. These malformations can change in size and number over time. |
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html:p |
There are two forms of the condition: familial and sporadic. The familial form |
Orphanet |
164 |
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is passed from parent to child, and affected individuals typically have multiple |
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cerebral cavernous malformations. The sporadic form occurs in people with no |
SNOMED CT |
444869007 |
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family history of the disorder. These individuals typically have only one |
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malformation. |
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Cerebral Creatine Deficiency Syndrome 2, CCDS2 |
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先天性腦部肌酸缺乏症候群第二型 |
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related-gene-list |
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Cerebral folate transport deficiency |
https://ghr.nlm.nih.gov/condition/cerebral-folate-transport-deficiency |
The prevalence of cerebral folate transport deficiency is unknown. Fewer |
html:p |
Cerebral folate transport deficiency is a disorder that develops from a shortage |
ar |
autosomal recessive |
FOLR1 |
https://ghr.nlm.nih.gov/gene/FOLR1 |
cerebral folate deficiency |
db |
key |
2014-09 |
2017-12-29 |
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than 20 affected individuals have been described in the scientific literature. |
(deficiency) of the B-vitamin folate (also called vitamin B9) in the brain. |
FOLR1 deficiency |
GTR |
C2751584 |
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Affected children have normal development during infancy, but around age 2 they |
neurodegeneration due to cerebral folate transport deficiency |
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begin to lose previously acquired mental and movement abilities (psychomotor |
MeSH |
D019150 |
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regression). They develop intellectual disability, speech difficulties, and |
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recurrent seizures (epilepsy). Movement problems such as tremors and difficulty |
OMIM |
613068 |
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coordinating movements (ataxia) can be severe, and some affected individuals |
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need wheelchair assistance. Affected individuals have leukodystrophy, which is a |
Orphanet |
217382 |
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loss of a type of brain tissue known as white matter. White matter consists of |
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nerve fibers covered by a fatty substance called myelin that promotes the rapid |
SNOMED CT |
711403001 |
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transmission of nerve impulses. Leukodystrophy contributes to the neurological |
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problems that occur in cerebral folate transport deficiency. Without treatment, |
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these neurological problems worsen over time. |
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related-gene-list |
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Cerebrotendinous xanthomatosis, CTX |
https://ghr.nlm.nih.gov/condition/cerebrotendinous-xanthomatosis |
The incidence of cerebrotendinous xanthomatosis is estimated to be 1 per |
html:p |
Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage |
ar |
autosomal recessive |
CYP27A1 |
https://ghr.nlm.nih.gov/gene/CYP27A1 |
cerebral cholesterinosis |
db |
key |
2016-09 |
2017-12-29 |
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腦腱性黃瘤症 |
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million individuals worldwide. This condition is more common in the Moroccan |
of fats (lipids) in many areas of the body. People with this disorder cannot |
cerebrotendinous cholesterinosis |
GTR |
C0238052 |
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Jewish population with an incidence of 1 in 108 individuals. |
break down certain lipids effectively, specifically different forms of |
cholestanol storage disease |
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cholesterol, so these fats accumulate in the body in the form of fatty yellow |
cholestanolosis |
GeneReviews |
ctx |
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nodules called xanthomas. These xanthomas are most commonly found in the brain |
CTX |
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and in connective tissue called tendons that attach muscle to bone, which is |
Van Bogaert-Scherer-Epstein disease |
ICD-10-CM |
E75.5 |
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reflected in the condition name (cerebro- meaning brain and -tendinous referring |
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to tendons). |
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MeSH |
D019294 |
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html:p |
People with cerebrotendinous xanthomatosis often develop neurological problems |
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in early adulthood that are thought to be caused by an abnormal accumulation of |
OMIM |
213700 |
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fats and an increasing number of xanthomas in the brain. These neurological |
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problems include recurrent seizures (epilepsy), movement disorders, impaired |
Orphanet |
909 |
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speech (dysarthria), loss of sensation in the arms and legs (peripheral |
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neuropathy), decline in intellectual function (dementia), hallucinations, and |
SNOMED CT |
63246000 |
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depression. Xanthomas can accumulate in the fatty substance that insulates and |
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protects nerves (myelin), causing the destruction of myelin and disrupting nerve |
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signaling in the brain. Degeneration (atrophy) of brain tissue caused by excess |
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lipid deposits also contributes to the neurological problems. |
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html:p |
Xanthomas in the tendons begin to form in early adulthood. The most common areas |
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for xanthomas to develop are tendons in the hands, elbows, knees, neck, and in |
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the Achilles tendon, which connects the heel of the foot to the calf muscles in |
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the leg. Tendon xanthomas may cause discomfort and interfere with tendon |
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flexibility. While many affected people develop tendon xanthomas, these nodules |
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may not be easily visible underneath the skin. |
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html:p |
Other features of cerebrotendinous xanthomatosis include clouding of the lenses |
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of the eyes (cataracts) and chronic diarrhea in childhood; a reduced ability to |
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produce and release a digestive fluid called bile (cholestasis), which can lead |
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to a yellowing of the skin or whites of the eyes (jaundice); and progressively |
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brittle bones that are prone to fracture (osteoporosis). People with |
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cerebrotendinous xanthomatosis are also at an increased risk of developing |
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cardiovascular disease or respiratory failure because of lipid accumulation in |
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the heart or lungs, respectively. If untreated, the signs and symptoms related |
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to cerebrotendinous xanthomatosis worsen over time; however, this condition |
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varies greatly among those who are affected. |
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related-gene-list |
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Chanarin-Dorfman syndrome |
https://ghr.nlm.nih.gov/condition/chanarin-dorfman-syndrome |
Chanarin-Dorfman syndrome is a rare condition; its incidence is unknown. |
html:p |
Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored |
ar |
autosomal recessive |
ABHD5 |
https://ghr.nlm.nih.gov/gene/ABHD5 |
CDS |
db |
key |
2008-11 |
2017-12-29 |
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abnormally in the body. Affected individuals cannot break down certain fats |
Chanarin-Dorfman disease |
GTR |
C0268238 |
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called triglycerides, and these fats accumulate in organs and tissues, including |
Ichthyotic neutral lipid storage disease |
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skin, liver, muscles, intestine, eyes, and ears. People with this condition |
neutral lipid storage disease with ichthyosis |
MeSH |
D008052 |
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also have dry, scaly skin (ichthyosis), which is usually present at birth. |
Triglyceride storage disease with ichthyosis |
db |
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Additional features of this condition include an enlarged liver (hepatomegaly), |
triglyceride storage disease with impaired long-chain fatty acid oxidation |
OMIM |
275630 |
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clouding of the lens of the eyes (cataracts), difficulty with coordinating |
db |
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movements (ataxia), hearing loss, short stature, muscle weakness (myopathy), |
Orphanet |
165 |
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involuntary movement of the eyes (nystagmus), and mild intellectual disability. |
db |
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html:p |
The signs and symptoms vary greatly among individuals with Chanarin-Dorfman |
SNOMED CT |
19604005 |
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syndrome. Some people may have ichthyosis only, while others may have problems |
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affecting many areas of the body. |
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related-gene-list |
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Char syndrome |
https://ghr.nlm.nih.gov/condition/char-syndrome |
Char syndrome is rare, although its exact incidence is unknown. Only a few |
html:p |
Char syndrome is a condition that affects the development of the face, heart, |
ad |
autosomal dominant |
TFAP2B |
https://ghr.nlm.nih.gov/gene/TFAP2B |
Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits |
db |
key |
2008-06 |
2017-12-29 |
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families with this condition have been identified worldwide. |
and limbs. It is characterized by a combination of three major features: a |
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GTR |
C1868570 |
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distinctive facial appearance, a heart defect called patent ductus arteriosus, |
db |
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and hand abnormalities. |
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GeneReviews |
char |
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html:p |
Most people with Char syndrome have a characteristic facial appearance that |
db |
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includes flattened cheek bones and a flat nasal bridge (the area of the nose |
MeSH |
D000015 |
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between the eyes). The tip of the nose is also flat and broad. The eyes are |
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wide-set with droopy eyelids (ptosis) and outside corners that point downward |
MeSH |
D004374 |
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(down-slanting palpebral fissures). Additional facial differences include a |
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shortened distance between the nose and upper lip (a short philtrum), a |
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OMIM |
169100 |
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triangular-shaped mouth, and thick, prominent lips. |
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html:p |
Patent ductus arteriosus is a common heart defect in newborns, and it occurs in |
Orphanet |
46627 |
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most babies with Char syndrome. Before birth, the ductus arteriosus forms a |
db |
key |
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connection between two major arteries (the aorta and the pulmonary artery). |
SNOMED CT |
703534001 |
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This connection normally closes shortly after birth, but it remains open in |
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babies with patent ductus arteriosus. If untreated, this heart defect causes |
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infants to breathe rapidly, feed poorly, and gain weight slowly. In severe |
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cases, it can lead to heart failure. People with patent ductus arteriosus also |
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have an increased risk of infection. |
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html:p |
Hand abnormalities are another feature of Char syndrome. In most people with |
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this condition, the middle section of the fifth (pinky) finger is shortened or |
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absent. Other abnormalities of the hands and feet have been reported but are |
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less common. |
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related-gene-list |
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Charcot-Marie-Tooth disease |
https://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease |
Charcot-Marie-Tooth disease is the most common inherited disorder that |
html:p |
Charcot-Marie-Tooth disease is a group of progressive disorders that affect the |
ad |
autosomal dominant |
AARS |
https://ghr.nlm.nih.gov/gene/AARS |
Charcot-Marie-Tooth hereditary neuropathy |
db |
key |
2015-12 |
2017-12-29 |
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Charcot Maire Tooth 氏症 |
involves the peripheral nerves, affecting an estimated 150,000 people in the |
peripheral nerves. Peripheral nerves connect the brain and spinal cord to |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Charcot-Marie-Tooth syndrome |
GTR |
C0007959 |
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腓骨肌萎縮症第二型 |
|
United States. It occurs in populations worldwide with a prevalence of about 1 |
muscles and to sensory cells that detect sensations such as touch, pain, heat, |
ar |
autosomal recessive |
AIFM1 |
https://ghr.nlm.nih.gov/gene/AIFM1 |
CMT |
db |
key |
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恰克-馬利-杜斯氏症 |
in 2,500 individuals. |
and sound. Damage to the peripheral nerves can result in loss of sensation and |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
hereditary motor and sensory neuropathy |
GTR |
C0011195 |
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wasting (atrophy) of muscles in the feet, legs, and hands. |
xd |
X-linked dominant |
BSCL2 |
https://ghr.nlm.nih.gov/gene/BSCL2 |
HMSN |
db |
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html:p |
Charcot-Marie-Tooth disease usually becomes apparent in adolescence or early |
related-gene |
gene-symbol |
ghr-page |
peroneal muscular atrophy |
GTR |
C0205713 |
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adulthood, but onset may occur anytime from early childhood through late |
DHTKD1 |
https://ghr.nlm.nih.gov/gene/DHTKD1 |
PMA |
db |
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adulthood. Symptoms of Charcot-Marie-Tooth disease vary in severity, even among |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0270911 |
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members of the same family. Some people never realize they have the disorder, |
DNM2 |
https://ghr.nlm.nih.gov/gene/DNM2 |
db |
key |
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but most have a moderate amount of physical disability. A small percentage of |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0270912 |
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people experience severe weakness or other problems which, in rare cases, can be |
DYNC1H1 |
https://ghr.nlm.nih.gov/gene/DYNC1H1 |
db |
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life-threatening. In most affected individuals, however, Charcot-Marie-Tooth |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0270913 |
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disease does not affect life expectancy. |
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EGR2 |
https://ghr.nlm.nih.gov/gene/EGR2 |
db |
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html:p |
Typically, the earliest symptoms of Charcot-Marie-Tooth disease involve balance |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0393808 |
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difficulties, clumsiness, and muscle weakness in the feet. Affected individuals |
FGD4 |
https://ghr.nlm.nih.gov/gene/FGD4 |
db |
key |
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may have foot abnormalities such as high arches (pes cavus), flat feet (pes |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0393818 |
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planus), or curled toes (hammer toes). They often have difficulty flexing the |
FIG4 |
https://ghr.nlm.nih.gov/gene/FIG4 |
db |
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foot or walking on the heel of the foot. These difficulties may cause a higher |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0751036 |
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than normal step (or gait) and increase the risk of ankle injuries and tripping. |
GARS |
https://ghr.nlm.nih.gov/gene/GARS |
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key |
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html:p |
As the disease progresses, muscles in the lower legs usually weaken, but leg and |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1832274 |
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foot problems rarely require the use of a wheelchair. Affected individuals may |
GDAP1 |
https://ghr.nlm.nih.gov/gene/GDAP1 |
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key |
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also develop weakness in the hands, causing difficulty with daily activities |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1832334 |
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such as writing, fastening buttons, and turning doorknobs. People with this |
GJB1 |
https://ghr.nlm.nih.gov/gene/GJB1 |
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key |
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disorder typically experience a decreased sensitivity to touch, heat, and cold |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1832399 |
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in the feet and lower legs, but occasionally feel aching or burning sensations. |
HSPB1 |
https://ghr.nlm.nih.gov/gene/HSPB1 |
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In some cases, affected individuals experience gradual hearing loss, deafness, |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1833219 |
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or loss of vision. |
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HSPB8 |
https://ghr.nlm.nih.gov/gene/HSPB8 |
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html:p |
There are several types of Charcot-Marie-Tooth disease. Type 1 |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1836336 |
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Charcot-Marie-Tooth disease (CMT1) is characterized by abnormalities in myelin, |
INF2 |
https://ghr.nlm.nih.gov/gene/INF2 |
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the fatty substance that covers nerve cells, protecting them and helping to |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1836485 |
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conduct nerve impulses. These abnormalities slow the transmission of nerve |
KARS |
https://ghr.nlm.nih.gov/gene/KARS |
db |
key |
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impulses. Type 2 Charcot-Marie-Tooth disease (CMT2) is characterized by |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1837552 |
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abnormalities in the fiber, or axon, that extends from a nerve cell body and |
KIF1B |
https://ghr.nlm.nih.gov/gene/KIF1B |
db |
key |
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transmits nerve impulses. These abnormalities reduce the strength of the nerve |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1839566 |
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impulse. Type 4 Charcot-Marie-Tooth disease (CMT4) affects either the axon or |
LITAF |
https://ghr.nlm.nih.gov/gene/LITAF |
db |
key |
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myelin and is distinguished from the other types by its pattern of inheritance. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1842197 |
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In intermediate forms of Charcot-Marie-Tooth disease, the nerve impulses are |
LMNA |
https://ghr.nlm.nih.gov/gene/LMNA |
db |
key |
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both slowed and reduced in strength, probably due to abnormalities in both axons |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1842237 |
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and myelin. Type X Charcot-Marie-Tooth disease (CMTX) is caused by mutations in |
LRSAM1 |
https://ghr.nlm.nih.gov/gene/LRSAM1 |
db |
key |
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a gene on the X chromosome, one of the two sex chromosomes. Within the various |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1842983 |
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types of Charcot-Marie-Tooth disease, subtypes (such as CMT1A, CMT1B, CMT2A, |
MED25 |
https://ghr.nlm.nih.gov/gene/MED25 |
db |
key |
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CMT4A, and CMTX1) are distinguished by the specific gene that is altered. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1843075 |
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html:p |
Sometimes other, more historical names are used to describe this disorder. For |
MFN2 |
https://ghr.nlm.nih.gov/gene/MFN2 |
db |
key |
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example, Roussy-Levy syndrome is a form of Charcot-Marie-Tooth disease defined |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1843153 |
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by the additional feature of rhythmic shaking (tremors). Dejerine-Sottas |
MPZ |
https://ghr.nlm.nih.gov/gene/MPZ |
db |
key |
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syndrome is a term sometimes used to describe a severe, early childhood form of |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1843164 |
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Charcot-Marie-Tooth disease; it is also sometimes called Charcot-Marie-Tooth |
MTMR2 |
https://ghr.nlm.nih.gov/gene/MTMR2 |
db |
key |
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disease type 3 (CMT3). Depending on the specific gene that is altered, this |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1843183 |
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severe, early onset form of the disorder may also be classified as CMT1 or CMT4. |
NDRG1 |
https://ghr.nlm.nih.gov/gene/NDRG1 |
db |
key |
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CMTX5 is also known as Rosenberg-Chutorian syndrome. Some researchers believe |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1843225 |
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that this condition is not actually a form of Charcot-Marie-Tooth disease. |
NEFL |
https://ghr.nlm.nih.gov/gene/NEFL |
db |
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Instead, they classify it as a separate disorder characterized by peripheral |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1843247 |
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nerve problems, deafness, and vision loss. |
PMP22 |
https://ghr.nlm.nih.gov/gene/PMP22 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C1843251 |
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PRPS1 |
https://ghr.nlm.nih.gov/gene/PRPS1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C1847823 |
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PRX |
https://ghr.nlm.nih.gov/gene/PRX |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C1847902 |
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RAB7A |
https://ghr.nlm.nih.gov/gene/RAB7A |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C1854150 |
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SBF2 |
https://ghr.nlm.nih.gov/gene/SBF2 |
db |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C1854154 |
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SH3TC2 |
https://ghr.nlm.nih.gov/gene/SH3TC2 |
db |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C1858278 |
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TRPV4 |
https://ghr.nlm.nih.gov/gene/TRPV4 |
db |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C1859198 |
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YARS |
https://ghr.nlm.nih.gov/gene/YARS |
db |
key |
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GTR |
C1861669 |
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db |
key |
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GTR |
C1861678 |
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|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GTR |
C1866636 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GTR |
C1970011 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GTR |
C2079540 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GTR |
C2750090 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GTR |
C3280220 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GTR |
C3280797 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GTR |
C3280845 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GeneReviews |
cmt |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GeneReviews |
cmt-4a |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GeneReviews |
cmt-dib |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GeneReviews |
cmt1 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GeneReviews |
cmt2 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
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|
|
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|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GeneReviews |
cmt2a |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GeneReviews |
cmt2c |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GeneReviews |
cmt2d |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GeneReviews |
cmt2e |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GeneReviews |
cmt4 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GeneReviews |
cmt4c |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GeneReviews |
cmtx |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GeneReviews |
cmtx5 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
ICD-10-CM |
G60.0 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
MeSH |
D002607 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
118200 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
118210 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
118220 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
118300 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
145900 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
180800 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
214400 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
302800 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
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|
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|
|
OMIM |
311070 |
|
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db |
key |
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|
|
OMIM |
600882 |
|
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db |
key |
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|
|
OMIM |
601098 |
|
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db |
key |
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|
|
OMIM |
601382 |
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db |
key |
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|
|
OMIM |
601455 |
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db |
key |
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|
|
OMIM |
601472 |
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db |
key |
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|
|
OMIM |
601596 |
|
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db |
key |
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|
|
OMIM |
604563 |
|
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db |
key |
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|
|
OMIM |
605253 |
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db |
key |
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|
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|
|
OMIM |
605588 |
|
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db |
key |
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|
|
OMIM |
605589 |
|
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db |
key |
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|
|
OMIM |
606071 |
|
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db |
key |
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|
|
OMIM |
606482 |
|
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db |
key |
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|
|
OMIM |
606595 |
|
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db |
key |
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|
|
OMIM |
607677 |
|
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db |
key |
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|
|
|
|
OMIM |
607678 |
|
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db |
key |
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|
|
|
OMIM |
607684 |
|
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db |
key |
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|
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|
|
OMIM |
607706 |
|
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db |
key |
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|
|
OMIM |
607734 |
|
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db |
key |
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|
|
OMIM |
607736 |
|
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db |
key |
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|
|
|
OMIM |
607791 |
|
|
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db |
key |
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|
|
|
OMIM |
607831 |
|
|
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db |
key |
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|
|
OMIM |
608323 |
|
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db |
key |
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|
|
OMIM |
608340 |
|
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db |
key |
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|
|
OMIM |
608673 |
|
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db |
key |
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|
|
OMIM |
609260 |
|
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db |
key |
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|
|
OMIM |
609311 |
|
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db |
key |
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|
|
OMIM |
611228 |
|
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db |
key |
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|
|
OMIM |
613287 |
|
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db |
key |
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|
|
OMIM |
614228 |
|
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db |
key |
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OMIM |
614436 |
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db |
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OMIM |
614455 |
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db |
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Orphanet |
166 |
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db |
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Orphanet |
101081 |
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db |
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Orphanet |
101082 |
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db |
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Orphanet |
101083 |
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db |
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Orphanet |
101084 |
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db |
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Orphanet |
101085 |
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db |
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Orphanet |
101097 |
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db |
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Orphanet |
101101 |
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db |
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Orphanet |
101102 |
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db |
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Orphanet |
139515 |
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db |
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Orphanet |
228174 |
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db |
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Orphanet |
64746 |
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db |
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Orphanet |
64747 |
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db |
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Orphanet |
64748 |
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db |
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Orphanet |
64748 |
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db |
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Orphanet |
64749 |
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db |
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Orphanet |
65753 |
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db |
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Orphanet |
90658 |
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db |
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Orphanet |
98856 |
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db |
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Orphanet |
99937 |
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db |
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Orphanet |
99938 |
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db |
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Orphanet |
99939 |
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db |
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Orphanet |
99940 |
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db |
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Orphanet |
99942 |
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db |
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Orphanet |
99945 |
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db |
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Orphanet |
99948 |
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db |
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Orphanet |
99949 |
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db |
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Orphanet |
99950 |
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db |
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Orphanet |
99951 |
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Orphanet |
99952 |
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Orphanet |
99954 |
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Orphanet |
99955 |
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Orphanet |
99956 |
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SNOMED CT |
398100001 |
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related-gene-list |
|
SNOMED CT |
45853006 |
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CHARGE syndrome |
https://ghr.nlm.nih.gov/condition/charge-syndrome |
CHARGE syndrome occurs in approximately 1 in 8,500 to 10,000 newborns. |
html:p |
CHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an |
ad |
autosomal dominant |
CHD7 |
https://ghr.nlm.nih.gov/gene/CHD7 |
CHARGE association |
db |
key |
2017-02 |
2017-12-29 |
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CHARGE 联合征 |
|
abbreviation for several of the features common in the disorder: coloboma, heart |
Hall-Hittner syndrome |
GTR |
C0265354 |
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CHARGE聯合畸形 |
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defects, atresia choanae (also known as choanal atresia), growth retardation, |
db |
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CHARGE症候群 |
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genital abnormalities, and ear abnormalities. The pattern of malformations |
GeneReviews |
charge |
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varies among individuals with this disorder, and the multiple health problems |
db |
key |
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can be life-threatening in infancy. Affected individuals usually have several |
MeSH |
D058747 |
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major characteristics or a combination of major and minor characteristics. |
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html:p |
The major characteristics of CHARGE syndrome are common in this disorder and |
OMIM |
214800 |
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occur less frequently in other disorders. Most individuals with CHARGE syndrome |
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have a gap or hole in one of the structures of the eye (coloboma), which forms |
Orphanet |
138 |
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during early development. A coloboma may be present in one or both eyes and may |
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impair a person's vision, depending on its size and location. Some affected |
SNOMED CT |
47535005 |
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individuals also have abnormally small or underdeveloped eyes (microphthalmia). |
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In many people with CHARGE syndrome, one or both nasal passages are narrowed |
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(choanal stenosis) or completely blocked (choanal atresia), which can cause |
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difficulty breathing. Affected individuals frequently have cranial nerve |
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abnormalities. The cranial nerves emerge directly from the brain and extend to |
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various areas of the head and neck, controlling muscle movement and transmitting |
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sensory information. Abnormal function of certain cranial nerves can cause |
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swallowing problems, facial paralysis, a sense of smell that is diminished |
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(hyposmia) or completely absent (anosmia), and mild to profound hearing loss. |
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People with CHARGE syndrome also typically have middle and inner ear |
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abnormalities, which can contribute to hearing problems, and unusually shaped |
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external ears. |
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html:p |
While the minor characteristics of CHARGE syndrome are common in this disorder, |
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they are also frequently present in people without the disorder. The minor |
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characteristics include heart defects; slow growth starting in late infancy; |
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delayed development of motor skills, such as sitting unsupported and walking; |
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and an opening in the lip (cleft lip) with or without an opening in the roof of |
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the mouth (cleft palate). Affected individuals frequently have hypogonadotropic |
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hypogonadism, which affects the production of hormones that direct sexual |
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development. As a result, males with CHARGE syndrome are often born with an |
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unusually small penis (micropenis) and undescended testes (cryptorchidism). |
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Abnormalities of external genitalia are seen less often in affected females. |
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Puberty can be incomplete or delayed in affected males and females. Another |
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minor feature of CHARGE syndrome is tracheoesophageal fistula, which is an |
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abnormal connection (fistula) between the esophagus and the trachea. Most people |
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with CHARGE syndrome also have distinctive facial features, including a |
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square-shaped face and differences in appearance between the right and left |
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sides of the face (facial asymmetry). Affected individuals have a wide range of |
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cognitive function, from normal intelligence to major learning disabilities with |
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absent speech and poor communication. |
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html:p |
Less common features of CHARGE syndrome include kidney abnormalities; immune |
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system problems; abnormal curvature of the spine (scoliosis or kyphosis); and |
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limb abnormalities, such as extra fingers or toes (polydactyly), missing fingers |
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or toes (oligodactyly), an inward and upward turning foot (club foot), and |
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abnormalities of the long bones of the arms and legs. |
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inheritance-pattern-list |
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CHD2 myoclonic encephalopathy |
https://ghr.nlm.nih.gov/condition/chd2-myoclonic-encephalopathy |
The prevalence of CHD2 myoclonic encephalopathy is unknown; at least 32 |
html:p |
html:i |
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related-gene |
ghr-page |
synonym |
CHD2 encephalopathy |
db-key |
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key |
2016-12 |
2017-12-29 |
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cases have been described in the scientific literature. |
CHD2 |
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https://ghr.nlm.nih.gov/gene/CHD2 |
synonym |
CHD2-related neurodevelopmental disorders |
GTR |
C3809278 |
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db-key |
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GeneReviews |
chd2-dis |
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db-key |
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MeSH |
D004831 |
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db-key |
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OMIM |
615369 |
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db-key |
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myoclonic encephalopathy have photosensitive epilepsy, in which seizures are |
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SNOMED CT |
192845009 |
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html:i |
myoclonic encephalopathy experience a type of seizure called |
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CHD2 |
atonic-myoclonic-absence seizure, which begins with a drop of the head, followed |
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by loss of consciousness, then rigid movements of the arms. Epilepsy can |
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worsen, causing prolonged episodes of seizure activity that last several |
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html:i |
myoclonic encephalopathy are called refractory because they usually do not |
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CHD2 |
respond to therapy with anti-epileptic medications. |
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html:p |
html:i |
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CHD2 |
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myoclonic encephalopathy have autism spectrum disorders, which are conditions |
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characterized by impaired communication and social interaction. In some |
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instances, areas with a loss of brain tissue (atrophy) have been found with |
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medical imaging. |
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related-gene-list |
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Chediak-Higashi syndrome |
https://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome |
Chediak-Higashi syndrome is a rare disorder. About 200 cases of the |
html:p |
Chediak-Higashi syndrome is a condition that affects many parts of the body, |
ar |
autosomal recessive |
LYST |
https://ghr.nlm.nih.gov/gene/LYST |
Chediak-Steinbrinck-Higashi syndrome |
db |
key |
2014-01 |
2017-12-29 |
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先天性白細胞顆粒異常症候群 |
condition have been reported worldwide. |
particularly the immune system. This disease damages immune system cells, |
CHS |
GTR |
C0007965 |
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白細胞異常色素減退症候群 |
leaving them less able to fight off invaders such as viruses and bacteria. As a |
oculocutaneous albinism with leukocyte defect |
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result, most people with Chediak-Higashi syndrome have repeated and persistent |
GeneReviews |
chediak-higashi |
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infections starting in infancy or early childhood. These infections tend to be |
db |
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very serious or life-threatening. |
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ICD-10-CM |
E70.330 |
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html:p |
Chediak-Higashi syndrome is also characterized by a condition called |
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oculocutaneous albinism, which causes abnormally light coloring (pigmentation) |
MeSH |
D002609 |
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of the skin, hair, and eyes. Affected individuals typically have fair skin and |
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light-colored hair, often with a metallic sheen. Oculocutaneous albinism also |
OMIM |
214500 |
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causes vision problems such as reduced sharpness; rapid, involuntary eye |
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movements (nystagmus); and increased sensitivity to light (photophobia). |
Orphanet |
167 |
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html:p |
Many people with Chediak-Higashi syndrome have problems with blood clotting |
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(coagulation) that lead to easy bruising and abnormal bleeding. In adulthood, |
SNOMED CT |
111396008 |
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Chediak-Higashi syndrome can also affect the nervous system, causing weakness, |
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clumsiness, difficulty with walking, and seizures. |
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html:p |
If the disease is not successfully treated, most children with Chediak-Higashi |
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syndrome reach a stage of the disorder known as the accelerated phase. This |
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severe phase of the disease is thought to be triggered by a viral infection. In |
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the accelerated phase, white blood cells (which normally help fight infection) |
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divide uncontrollably and invade many of the body's organs. The accelerated |
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phase is associated with fever, episodes of abnormal bleeding, overwhelming |
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infections, and organ failure. These medical problems are usually |
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life-threatening in childhood. |
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html:p |
A small percentage of people with Chediak-Higashi syndrome have a milder form of |
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the condition that appears later in life. People with the adult form of the |
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disorder have less noticeable changes in pigmentation and are less likely to |
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have recurrent, severe infections. They do, however, have a significant risk of |
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progressive neurological problems such as tremors, difficulty with movement and |
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balance (ataxia), reduced sensation and weakness in the arms and legs |
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(peripheral neuropathy), and a decline in intellectual functioning. |
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related-gene-list |
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Cherubism |
https://ghr.nlm.nih.gov/condition/cherubism |
The incidence of cherubism is unknown. At least 250 cases have been |
html:p |
Cherubism is a disorder characterized by abnormal bone tissue in the lower part |
ad |
autosomal dominant |
SH3BP2 |
https://ghr.nlm.nih.gov/gene/SH3BP2 |
Familial benign giant-cell tumor of the jaw |
db |
key |
2007-04 |
2017-12-29 |
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reported worldwide. |
of the face. Beginning in early childhood, both the lower jaw (the mandible) |
Familial fibrous dysplasia of jaw |
GTR |
C0008029 |
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and the upper jaw (the maxilla) become enlarged as bone is replaced with |
Familial multilocular cystic disease of the jaws |
db |
key |
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painless, cyst-like growths. These growths give the cheeks a swollen, rounded |
GeneReviews |
cherubism |
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appearance and often interfere with normal tooth development. In some people |
db |
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the condition is so mild that it may not be noticeable, while other cases are |
MeSH |
D002636 |
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severe enough to cause problems with vision, breathing, speech, and swallowing. |
db |
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Enlargement of the jaw usually continues throughout childhood and stabilizes |
OMIM |
118400 |
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during puberty. The abnormal growths are gradually replaced with normal bone in |
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early adulthood. As a result, many affected adults have a normal facial |
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Orphanet |
184 |
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appearance. |
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html:p |
Most people with cherubism have few, if any, signs and symptoms affecting other |
SNOMED CT |
76098004 |
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parts of the body. Rarely, however, this condition occurs as part of another |
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genetic disorder. For example, cherubism can occur with Ramon syndrome, which |
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also involves short stature, intellectual disability, and overgrowth of the gums |
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(gingival fibrosis). Additionally, cherubism has been reported in rare cases |
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of Noonan syndrome (a developmental disorder characterized by unusual facial |
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characteristics, short stature, and heart defects) and fragile X syndrome (a |
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condition primarily affecting males that causes learning disabilities and |
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cognitive impairment). |
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inheritance-pattern-list |
related-gene-list |
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Childhood myocerebrohepatopathy spectrum |
https://ghr.nlm.nih.gov/condition/childhood-myocerebrohepatopathy-spectrum |
The prevalence of childhood myocerebrohepatopathy spectrum is unknown. |
html:p |
Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a |
ar |
autosomal recessive |
POLG |
synonym |
db-key |
db |
key |
2011-06 |
2017-12-29 |
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html:i |
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GTR |
C0205710 |
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POLG |
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db-key |
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GeneReviews |
alpers |
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db-key |
db |
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MeSH |
D028361 |
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html:p |
Common signs and symptoms of MCHS include muscle weakness (myopathy), |
db-key |
db |
key |
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developmental delay or a deterioration of intellectual function, and liver |
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SNOMED CT |
702366001 |
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disease. Another possible sign of this condition is a toxic buildup of lactic |
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acid in the body (lactic acidosis). Often, affected children are unable to gain |
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weight and grow at the expected rate (failure to thrive). |
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html:p |
Additional signs and symptoms of MCHS can include a form of kidney disease |
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called renal tubular acidosis, inflammation of the pancreas (pancreatitis), |
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recurrent episodes of nausea and vomiting (cyclic vomiting), or hearing loss. |
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inheritance-pattern-list |
related-gene-list |
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CHMP2B-related frontotemporal dementia |
https://ghr.nlm.nih.gov/condition/chmp2b-related-frontotemporal-dementia |
CHMP2B-related frontotemporal dementia has been reported in one large |
html:p |
html:i |
|
ad |
autosomal dominant |
CHMP2B |
synonym |
db-key |
db |
key |
2010-08 |
2017-12-29 |
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family in Denmark and a few unrelated individuals from other countries. This |
CHMP2B |
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synonym |
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GTR |
C1833296 |
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disease appears to be a rare form of frontotemporal dementia. |
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synonym |
db-key |
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synonym |
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GeneReviews |
ftd-chmp2b |
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html:p |
html:i |
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synonym |
db-key |
db |
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CHMP2B |
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MeSH |
D057180 |
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db-key |
db |
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OMIM |
600795 |
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db-key |
db |
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Orphanet |
282 |
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db-key |
db |
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html:p |
html:i |
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SNOMED CT |
702393003 |
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CHMP2B |
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html:p |
html:i |
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CHMP2B |
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related-gene-list |
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Cholangiocarcinoma |
https://ghr.nlm.nih.gov/condition/cholangiocarcinoma |
Cholangiocarcinoma affects 2,000 to 3,000 people each year in the United |
html:p |
Cholangiocarcinoma is a group of cancers that begin in the bile ducts. Bile |
n |
not inherited |
ARID1A |
https://ghr.nlm.nih.gov/gene/ARID1A |
CC |
db |
key |
2016-08 |
2017-12-29 |
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膽管癌 |
|
States. This type of cancer occurs much more frequently in Southeast Asian |
ducts are branched tubes that connect the liver and gallbladder to the small |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
cholangiocarcinoma of biliary tract |
GTR |
C3810156 |
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countries such as Thailand, where it is related to infection with a parasite |
intestine. They carry bile, which is a fluid that helps the body digest the fats |
u |
pattern unknown |
BAP1 |
https://ghr.nlm.nih.gov/gene/BAP1 |
cholangiocellular carcinoma |
db |
key |
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that is common there. For unknown reasons, cholangiocarcinoma occurs slightly |
in food. Bile is produced in the liver and stored in the gallbladder before |
related-gene |
gene-symbol |
ghr-page |
extrahepatic cholangiocarcinoma |
ICD-10-CM |
C22.1 |
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more often in men than in women. |
being released in the small intestine after a person eats. |
BRAF |
https://ghr.nlm.nih.gov/gene/BRAF |
intrahepatic cholangiocarcinoma |
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html:p |
Cholangiocarcinoma is classified by its location in relation to the liver. |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D018281 |
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Intrahepatic cholangiocarcinoma begins in the small bile ducts within the liver. |
FGFR2 |
https://ghr.nlm.nih.gov/gene/FGFR2 |
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This is the least common form of the disease, accounting for less than 10 |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
615619 |
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percent of all cases. Perihilar cholangiocarcinoma (also known as a Klatskin |
IDH1 |
https://ghr.nlm.nih.gov/gene/IDH1 |
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tumor) begins in an area called the hilum, where two major bile ducts join and |
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gene-symbol |
ghr-page |
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Orphanet |
70567 |
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leave the liver. It is the most common form of the disease, accounting for more |
IDH2 |
https://ghr.nlm.nih.gov/gene/IDH2 |
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than half of all cases. The remaining cases are classified as distal |
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gene-symbol |
ghr-page |
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SNOMED CT |
312104005 |
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cholangiocarcinomas, which begin in bile ducts outside the liver. The perihilar |
KMT2C |
https://ghr.nlm.nih.gov/gene/KMT2C |
db |
key |
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and distal forms of the disease, which both occur outside the liver, are |
related-gene |
gene-symbol |
ghr-page |
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SNOMED CT |
70179006 |
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sometimes grouped together and called extrahepatic cholangiocarcinoma. |
KRAS |
https://ghr.nlm.nih.gov/gene/KRAS |
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html:p |
The three types of cholangiocarcinoma do not usually cause any symptoms in their |
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gene-symbol |
ghr-page |
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early stages, and this cancer is usually not diagnosed until it has already |
PBRM1 |
https://ghr.nlm.nih.gov/gene/PBRM1 |
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spread beyond the bile ducts to other tissues. Symptoms often result when bile |
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gene-symbol |
ghr-page |
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ducts become blocked by the tumor. The most common symptom is jaundice, which is |
PEG3 |
https://ghr.nlm.nih.gov/gene/PEG3 |
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a yellowing of the skin and the whites of the eyes. Other symptoms can include |
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itching, dark-colored urine, loss of appetite, unintentional weight loss, |
PTPN3 |
https://ghr.nlm.nih.gov/gene/PTPN3 |
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abdominal pain, and light-colored and greasy stools. These symptoms are |
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gene-symbol |
ghr-page |
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described as "nonspecific" because they can be features of many different |
RNF43 |
https://ghr.nlm.nih.gov/gene/RNF43 |
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diseases. |
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ghr-page |
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html:p |
Most people who develop cholangiocarcinoma are older than 65. Because this |
ROBO2 |
https://ghr.nlm.nih.gov/gene/ROBO2 |
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cancer is often not discovered until it has already spread, it can be |
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ghr-page |
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challenging to treat effectively. Affected individuals can survive for several |
SMAD4 |
https://ghr.nlm.nih.gov/gene/SMAD4 |
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months to several years after diagnosis. |
related-gene |
gene-symbol |
ghr-page |
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TERT |
https://ghr.nlm.nih.gov/gene/TERT |
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related-gene |
gene-symbol |
ghr-page |
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TP53 |
https://ghr.nlm.nih.gov/gene/TP53 |
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related-gene-list |
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CHOPS syndrome |
https://ghr.nlm.nih.gov/condition/chops-syndrome |
CHOPS syndrome is a rare disorder whose prevalence is unknown. Only a few |
html:p |
CHOPS syndrome is a disorder involving multiple abnormalities that are present |
ad |
autosomal dominant |
AFF4 |
https://ghr.nlm.nih.gov/gene/AFF4 |
cognitive impairment, coarse facies, heart defects, obesity, pulmonary |
db |
key |
2015-11 |
2017-12-29 |
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affected individuals have been described in the medical literature. |
from birth (congenital). The name "CHOPS" is an abbreviation for a list of |
involvement, short stature, and skeletal dysplasia |
GTR |
C4085597 |
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features of the disorder including cognitive impairment, coarse facial features, |
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heart defects, obesity, lung (pulmonary) involvement, short stature, and |
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MeSH |
D000015 |
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skeletal abnormalities. |
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html:p |
Children with CHOPS syndrome have intellectual disability and delayed |
|
OMIM |
616368 |
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development of skills such as sitting and walking. Characteristic facial |
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features include a round face; thick hair; thick eyebrows that grow together in |
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the middle (synophrys); wide-set, bulging eyes with long eyelashes; a short |
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nose; and down-turned corners of the mouth. |
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html:p |
Most affected individuals are born with a heart defect called patent ductus |
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arteriosus (PDA). The ductus arteriosus is a connection between two major |
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arteries, the aorta and the pulmonary artery. This connection is open during |
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fetal development and normally closes shortly after birth. However, the ductus |
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arteriosus remains open, or patent, in babies with PDA. If untreated, this heart |
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defect causes infants to breathe rapidly, feed poorly, and gain weight slowly; |
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in severe cases, it can lead to heart failure. Multiple heart abnormalities have |
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sometimes been found in children with CHOPS syndrome. In addition to PDA, |
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affected individuals may have ventricular septal defect, which is a defect in |
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the muscular wall (septum) that separates the right and left sides of the |
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heart's lower chamber. |
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html:p |
People with CHOPS syndrome have abnormalities of the throat and airways that |
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cause momentary cessation of breathing while asleep (obstructive sleep apnea). |
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These abnormalities can also cause affected individuals to breathe food or |
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fluids into the lungs accidentally, which can lead to a potentially |
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life-threatening bacterial lung infection (aspiration pneumonia) and chronic |
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lung disease. Affected individuals are shorter than more than 97 percent of |
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their peers and are overweight for their height. They also have skeletal |
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differences including unusually short fingers and toes (brachydactyly) and |
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abnormally-shaped spinal bones (vertebrae). |
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html:p |
Other features that can occur in CHOPS syndrome include a small head size |
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(microcephaly); hearing loss; clouding of the lens of the eye (cataract); a |
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single, horseshoe-shaped kidney; and, in affected males, undescended testes |
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(cryptorchidism). |
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related-gene-list |
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Chordoma |
https://ghr.nlm.nih.gov/condition/chordoma |
Chordomas are rare, occurring in approximately 1 per million individuals |
html:p |
A chordoma is a rare type of cancerous tumor that can occur anywhere along the |
ad |
autosomal dominant |
TBXT |
https://ghr.nlm.nih.gov/gene/TBXT |
CHDM |
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2015-05 |
2017-12-29 |
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脊索瘤 |
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each year. Chordomas comprise fewer than 1 percent of tumors affecting the brain |
spine, from the base of the skull to the tailbone. Chordomas grow slowly, |
code |
memo |
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chordocarcinoma |
GTR |
C0008487 |
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(cancer) |
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gradually extending into the bone and soft tissue around them. They often recur |
n |
not inherited |
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chordoepithelioma |
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after treatment, and in about 40 percent of cases the cancer spreads |
notochordal sarcoma |
ICD-10-CM |
C41.2 |
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(metastasizes) to other areas of the body, such as the lungs. |
notochordoma |
db |
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html:p |
Approximately half of all chordomas occur at the base of the spine (sacrum), |
MeSH |
D002817 |
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about one third occur in the base of the skull (occiput), and the rest occur in |
db |
key |
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the cervical (neck), thoracic (upper back), or lumbar (lower back) vertebrae of |
OMIM |
215400 |
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the spine. As the chordoma grows, it puts pressure on the adjacent areas of the |
db |
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brain or spinal cord, leading to the signs and symptoms of the disorder. A |
Orphanet |
178 |
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chordoma anywhere along the spine may cause pain, weakness, or numbness in the |
db |
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back, arms, or legs. A chordoma at the base of the skull (occipital chordoma) |
SNOMED CT |
50007008 |
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may lead to double vision (diplopia) and headaches. A chordoma that occurs in |
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the tailbone (coccygeal chordoma) may result in a lump large enough to be felt |
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through the skin and may cause problems with bladder or bowel function. |
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html:p |
Chordomas typically occur in adults between ages 40 and 70. About 5 percent of |
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chordomas are diagnosed in children. For reasons that are unclear, males are |
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affected about twice as often as females. |
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related-gene-list |
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Chorea-acanthocytosis |
https://ghr.nlm.nih.gov/condition/chorea-acanthocytosis |
It is estimated that 500 to 1,000 people worldwide have |
html:p |
Chorea-acanthocytosis is primarily a neurological disorder that affects movement |
ar |
autosomal recessive |
VPS13A |
https://ghr.nlm.nih.gov/gene/VPS13A |
CHAC |
db |
key |
2017-10 |
2017-12-29 |
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舞蹈病 - 棘紅細胞增多症 |
chorea-acanthocytosis. |
in many parts of the body. Chorea refers to the involuntary jerking movements |
choreoacanthocytosis |
GTR |
C0393576 |
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(neurological) |
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made by people with this disorder. People with this condition also have |
neuroacanthocytosis |
db |
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abnormal star-shaped red blood cells (acanthocytosis). This condition is one of |
GeneReviews |
chac |
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a group of conditions called neuroacanthocytoses that involve neurological |
db |
key |
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problems and abnormal red blood cells. |
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MeSH |
D054546 |
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html:p |
In addition to chorea, another common feature of chorea-acanthocytosis is |
db |
key |
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involuntary tensing of various muscles (dystonia), such as those in the limbs, |
OMIM |
200150 |
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face, mouth, tongue, and throat. These muscle twitches can cause vocal tics |
db |
key |
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(such as grunting), involuntary belching, and limb spasms. Eating can also be |
Orphanet |
2388 |
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impaired as tongue and throat twitches can interfere with chewing and swallowing |
db |
key |
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food. People with chorea-acanthocytosis may uncontrollably bite their tongue, |
SNOMED CT |
26848004 |
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lips, and inside of the mouth. Nearly half of all people with |
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db |
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chorea-acanthocytosis have seizures. |
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SNOMED CT |
66881004 |
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html:p |
Individuals with chorea-acanthocytosis may develop difficulty processing, |
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learning, and remembering information (cognitive impairment). They may have |
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reduced sensation and weakness in their arms and legs (peripheral neuropathy) |
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and muscle weakness (myopathy). Impaired muscle and nerve functioning commonly |
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cause speech difficulties in individuals with this condition, and can lead to an |
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inability to speak. |
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html:p |
Behavioral changes are a common feature of chorea-acanthocytosis and may be the |
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first sign of this condition. These behavioral changes may include changes in |
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personality, obsessive-compulsive disorder (OCD), lack of self-restraint, and |
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the inability to take care of oneself. |
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html:p |
The signs and symptoms of chorea-acanthocytosis usually begin in early to |
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mid-adulthood. The movement problems of this condition worsen with age. Loss |
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of cells (atrophy) in certain brain regions is the major cause of the |
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neurological problems seen in people with chorea-acanthocytosis. |
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related-gene-list |
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Choroideremia |
https://ghr.nlm.nih.gov/condition/choroideremia |
The prevalence of choroideremia is estimated to be 1 in 50,000 to 100,000 |
html:p |
Choroideremia is a condition characterized by progressive vision loss that |
xr |
X-linked recessive |
CHM |
https://ghr.nlm.nih.gov/gene/CHM |
choroidal sclerosis |
db |
key |
2013-07 |
2017-12-29 |
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脈絡膜缺失症 |
people. However, it is likely that this condition is underdiagnosed because of |
mainly affects males. The first symptom of this condition is usually an |
progressive tapetochoroidal dystrophy |
GTR |
C0008525 |
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its similarities to other eye disorders. Choroideremia is thought to account for |
impairment of night vision (night blindness), which can occur in early |
TCD |
db |
key |
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approximately 4 percent of all blindness. |
childhood. A progressive narrowing of the field of vision (tunnel vision) |
GeneReviews |
choroid |
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follows, as well as a decrease in the ability to see details (visual acuity). |
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These vision problems are due to an ongoing loss of cells (atrophy) in the |
ICD-10-CM |
H31.21 |
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specialized light-sensitive tissue that lines the back of the eye (retina) and a |
db |
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nearby network of blood vessels (the choroid). The vision impairment in |
MeSH |
D015794 |
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choroideremia worsens over time, but the progression varies among affected |
db |
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individuals. However, all individuals with this condition will develop |
|
OMIM |
303100 |
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blindness, most commonly in late adulthood. |
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Orphanet |
180 |
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db |
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related-gene-list |
|
SNOMED CT |
75241009 |
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Christianson syndrome |
https://ghr.nlm.nih.gov/condition/christianson-syndrome |
Christianson syndrome is a rare condition, although the exact prevalence is |
html:p |
Christianson syndrome is a disorder that primarily affects the nervous system. |
xr |
X-linked recessive |
SLC9A6 |
https://ghr.nlm.nih.gov/gene/SLC9A6 |
Angelman-like syndrome, X-linked |
db |
key |
2012-04 |
2017-12-29 |
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unknown. The condition was first described in a South African family and has |
This condition becomes apparent in infancy. Its characteristic features include |
intellectual deficit, X-linked, South African type |
GTR |
C2678194 |
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since been found people in other parts of the world. |
delayed development, intellectual disability, an inability to speak, problems |
db |
key |
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with balance and coordination (ataxia), and difficulty standing or walking. |
|
MeSH |
D038901 |
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Individuals who do learn to walk lose the ability in childhood. Most affected |
db |
key |
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children also have recurrent seizures (epilepsy), beginning between ages 1 and |
OMIM |
300243 |
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2 |
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db |
key |
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html:p |
Other features seen in many people with Christianson syndrome include a small |
Orphanet |
85278 |
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head size (microcephaly); a long, narrow face with prominent nose, jaw, and |
db |
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ears; an open mouth and uncontrolled drooling; and abnormal eye movements. |
SNOMED CT |
702354007 |
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Affected children often have a happy demeanor with frequent smiling and |
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spontaneous laughter. |
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related-gene-list |
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Chronic atrial and intestinal dysrhythmia |
https://ghr.nlm.nih.gov/condition/chronic-atrial-and-intestinal-dysrhythmia |
The prevalence of CAID is unknown. At least 17 affected individuals have |
html:p |
Chronic atrial and intestinal dysrhythmia (CAID) is a disorder affecting the |
ar |
autosomal recessive |
SGO1 |
https://ghr.nlm.nih.gov/gene/SGO1 |
CAID |
db |
key |
2015-05 |
2017-12-29 |
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been described in the medical literature. |
heart and the digestive system. CAID disrupts the normal rhythm of the |
cohesinopathy affecting heart and gut rhythm |
GTR |
C4015474 |
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heartbeat; affected individuals have a heart rhythm abnormality called sick |
db |
key |
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sinus syndrome. The disorder also impairs the rhythmic muscle contractions that |
MeSH |
D001145 |
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propel food through the intestines (peristalsis), causing a digestive condition |
db |
key |
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called intestinal pseudo-obstruction. The heart and digestive issues develop at |
MeSH |
D007418 |
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the same time, usually by age 20. |
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db |
key |
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html:p |
Sick sinus syndrome (also known as sinus node dysfunction) is an abnormality of |
OMIM |
616201 |
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the sinoatrial (SA) node, which is an area of specialized cells in the heart |
db |
key |
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that functions as a natural pacemaker. The SA node generates electrical impulses |
Orphanet |
435988 |
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that start each heartbeat. These signals travel from the SA node to the rest of |
db |
key |
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the heart, signaling the heart (cardiac) muscle to contract and pump blood. In |
SNOMED CT |
720507006 |
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people with sick sinus syndrome, the SA node does not function normally, which |
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usually causes the heartbeat to be too slow (bradycardia), although occasionally |
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the heartbeat is too fast (tachycardia) or rapidly switches from being too fast |
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to being too slow (tachycardia-bradycardia syndrome). Symptoms related to |
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abnormal heartbeats can include dizziness, light-headedness, fainting (syncope), |
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a sensation of fluttering or pounding in the chest (palpitations), and |
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confusion or memory problems. During exercise, many affected individuals |
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experience chest pain, difficulty breathing, or excessive tiredness (fatigue). |
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html:p |
In intestinal pseudo-obstruction, impairment of peristalsis leads to a buildup |
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of partially digested food in the intestines, abdominal swelling (distention) |
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and pain, nausea, vomiting, and constipation or diarrhea. Affected individuals |
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experience loss of appetite and impaired ability to absorb nutrients, which may |
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lead to malnutrition. These symptoms resemble those caused by an intestinal |
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blockage (obstruction) such as a tumor, but in intestinal pseudo-obstruction no |
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such blockage is found. |
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related-gene-list |
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Chronic granulomatous disease, CGD |
https://ghr.nlm.nih.gov/condition/chronic-granulomatous-disease |
Chronic granulomatous disease is estimated to occur in 1 in 200,000 to |
html:p |
Chronic granulomatous disease is a disorder that causes the immune system to |
ar |
autosomal recessive |
CYBA |
https://ghr.nlm.nih.gov/gene/CYBA |
autosomal recessive chronic granulomatous disease |
db |
key |
2016-01 |
2017-12-29 |
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特发性慢性肉芽肿病 |
250,000 people worldwide. |
malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
CGD |
GTR |
C1844376 |
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慢性肉芽腫病 |
|
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conditions in which the immune system is not able to protect the body from |
xr |
X-linked recessive |
CYBB |
https://ghr.nlm.nih.gov/gene/CYBB |
granulomatous disease, chronic |
db |
key |
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foreign invaders such as bacteria and fungi. Individuals with chronic |
related-gene |
gene-symbol |
ghr-page |
X-linked chronic granulomatous disease |
GTR |
C1856245 |
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granulomatous disease may have recurrent bacterial and fungal infections. People |
NCF1 |
https://ghr.nlm.nih.gov/gene/NCF1 |
db |
key |
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with this condition may also have areas of inflammation (granulomas) in various |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1856251 |
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tissues that can result in damage to those tissues. The features of chronic |
NCF2 |
https://ghr.nlm.nih.gov/gene/NCF2 |
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granulomatous disease usually first appear in childhood, although some |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1856255 |
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individuals do not show symptoms until later in life. |
NCF4 |
https://ghr.nlm.nih.gov/gene/NCF4 |
db |
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html:p |
People with chronic granulomatous disease typically have at least one serious |
GTR |
C3151409 |
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bacterial or fungal infection every 3 to 4 years. The lungs are the most |
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frequent area of infection; pneumonia is a common feature of this condition. |
GeneReviews |
cgd |
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Individuals with chronic granulomatous disease may develop a type of fungal |
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pneumonia, called mulch pneumonitis, which causes fever and shortness of breath |
ICD-10-CM |
D71 |
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after exposure to decaying organic materials such as mulch, hay, or dead leaves. |
db |
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Exposure to these organic materials and the numerous fungi involved in their |
MeSH |
D006105 |
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decomposition causes people with chronic granulomatous disease to develop fungal |
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infections in their lungs. Other common areas of infection in people with |
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OMIM |
233690 |
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chronic granulomatous disease include the skin, liver, and lymph nodes. |
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html:p |
Inflammation can occur in many different areas of the body in people with |
OMIM |
233700 |
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chronic granulomatous disease. Most commonly, granulomas occur in the |
db |
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gastrointestinal tract and the genitourinary tract. In many cases the intestinal |
OMIM |
233710 |
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wall is inflamed, causing a form of inflammatory bowel disease that varies in |
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severity but can lead to stomach pain, diarrhea, bloody stool, nausea, and |
OMIM |
306400 |
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vomiting. Other common areas of inflammation in people with chronic |
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granulomatous disease include the stomach, colon, and rectum, as well as the |
OMIM |
613960 |
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mouth, throat, and skin. Additionally, granulomas within the gastrointestinal |
db |
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tract can lead to tissue breakdown and pus production (abscesses). Inflammation |
Orphanet |
379 |
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in the stomach can prevent food from passing through to the intestines (gastric |
db |
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outlet obstruction), leading to an inability to digest food. These digestive |
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SNOMED CT |
387759001 |
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problems cause vomiting after eating and weight loss. In the genitourinary |
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tract, inflammation can occur in the kidneys and bladder. Inflammation of the |
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lymph nodes (lymphadenitis) and bone marrow (osteomyelitis), which both produce |
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immune cells, can lead to further impairment of the immune system. |
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html:p |
Rarely, people with chronic granulomatous disease develop autoimmune disorders, |
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which occur when the immune system malfunctions and attacks the body's own |
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tissues and organs. |
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html:p |
Repeated episodes of infection and inflammation reduce the life expectancy of |
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individuals with chronic granulomatous disease; however, with treatment, most |
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affected individuals live into mid- to late adulthood. |
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related-gene-list |
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Chronic myeloid leukemia |
https://ghr.nlm.nih.gov/condition/chronic-myeloid-leukemia |
Chronic myeloid leukemia occurs in about 1 in 555 individuals. It accounts |
html:p |
Chronic myeloid leukemia is a slow-growing cancer of the blood-forming tissue |
n |
not inherited |
ABL1 |
https://ghr.nlm.nih.gov/gene/ABL1 |
CGL |
db |
key |
2016-09 |
2017-12-29 |
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(Cancer) |
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for about 10 percent of all blood cell cancers (leukemias). |
(bone marrow). Normal bone marrow produces red blood cells (erythrocytes) that |
related-gene |
gene-symbol |
ghr-page |
chronic granulocytic leukemia |
GTR |
C0023473 |
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慢性骨髓性白血病 |
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carry oxygen, white blood cells (leukocytes) that protect the body from |
BCR |
https://ghr.nlm.nih.gov/gene/BCR |
chronic myelocytic leukemia |
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infection, and platelets (thrombocytes) that are involved in blood clotting. In |
related-chromosome |
name |
ghr-page |
chronic myelogenous leukemia |
GTR |
C4016397 |
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chronic myeloid leukemia, the bone marrow produces too many white blood cells. |
9 |
https://ghr.nlm.nih.gov/chromosome/9 |
CML |
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Initially, these cells function relatively normally. However, as the condition |
related-chromosome |
name |
ghr-page |
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ICD-10-CM |
C92.1 |
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progresses, immature white blood cells called myeloblasts (or blasts) accumulate |
22 |
https://ghr.nlm.nih.gov/chromosome/22 |
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in the blood and bone marrow. The overgrowth of myeloblasts impairs development |
ICD-10-CM |
C92.10 |
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of other blood cells, leading to a shortage of red blood cells (anemia) and |
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platelets. |
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ICD-10-CM |
C92.11 |
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html:p |
Chronic myeloid leukemia usually begins after age 60. Common features include |
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excessive tiredness (fatigue), fever, and weight loss. Many affected individuals |
ICD-10-CM |
C92.12 |
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develop an enlarged spleen (splenomegaly), which can cause a feeling of |
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fullness in the abdomen and a loss of appetite. About half of people with |
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MeSH |
D015464 |
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chronic myeloid leukemia do not initially have any signs and symptoms and are |
db |
key |
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diagnosed when a blood test is performed for another reason. |
|
Orphanet |
521 |
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html:p |
The condition consists of three phases: the chronic phase, the accelerated |
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phase, and the blast phase (or blast crisis). In the chronic phase, the number |
Orphanet |
98824 |
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of mature white blood cells is elevated, and myeloblasts account for less than |
db |
key |
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10 percent of blood cells. Signs and symptoms of the condition during this phase |
SNOMED CT |
92818009 |
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are typically mild or absent and worsen slowly. The chronic phase can last from |
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months to years. In the accelerated phase, the number of myeloblasts is |
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slightly higher, making up 10 to 29 percent of blood cells. The signs and |
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symptoms continue to worsen. The accelerated phase usually lasts 4 to 6 months, |
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although it is skipped in some affected individuals. In blast crisis, 30 percent |
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or more of blood or bone marrow cells are myeloblasts. Signs and symptoms are |
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most severe in this phase, including a massively enlarged spleen, bone pain, and |
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weight loss. Serious infections and uncontrolled bleeding can be |
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life-threatening. |
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Chronic progression external ophthalmoplegia, CPEO |
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慢性進行性外眼肌麻痺症 |
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inheritance-pattern-list |
related-gene-list |
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CHST3-related skeletal dysplasia |
https://ghr.nlm.nih.gov/condition/chst3-related-skeletal-dysplasia |
The prevalence of CHST3-related skeletal dysplasia is unknown. More than 30 |
html:p |
html:i |
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autosomal recessive |
ghr-page |
autosomal recessive Larsen syndrome |
db-key |
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2012-10 |
2017-12-29 |
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affected individuals have been reported. |
CHST3 |
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https://ghr.nlm.nih.gov/gene/CHST3 |
CDMD |
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GTR |
C1840471 |
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chondrodysplasia with multiple dislocations |
db-key |
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humero-spinal dysostosis |
GeneReviews |
cd-chst3 |
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SED with luxations, CHST3 type |
db-key |
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SED, Omani type |
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MeSH |
D010009 |
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-related skeletal dysplasia are usually limited to the bones and joints; |
spondyloepiphyseal dysplasia with congenital joint dislocations |
db-key |
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however, minor heart defects have been reported in a few affected individuals. |
spondyloepiphyseal dysplasia, Omani type |
OMIM |
143095 |
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html:p |
Researchers have not settled on a preferred name for this condition. It is |
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db-key |
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sometimes known as autosomal recessive Larsen syndrome based on its similarity |
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Orphanet |
263463 |
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to another skeletal disorder called Larsen syndrome. Other names that have been |
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used to describe the condition include spondyloepiphyseal dysplasia, Omani type; |
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SNOMED CT |
702400006 |
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humero-spinal dysostosis; and chondrodysplasia with multiple dislocations. |
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CHST3 |
gene. |
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related-gene-list |
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Chylomicron retention disease |
https://ghr.nlm.nih.gov/condition/chylomicron-retention-disease |
Chylomicron retention disease is a rare condition with approximately 40 |
html:p |
Chylomicron retention disease is an inherited disorder that affects the |
ar |
autosomal recessive |
SAR1B |
https://ghr.nlm.nih.gov/gene/SAR1B |
Anderson disease |
db |
key |
2008-10 |
2017-12-29 |
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乳糜微粒滞留病 |
cases described worldwide. |
absorption of dietary fats, cholesterol, and certain fat-soluble vitamins. As |
Anderson syndrome |
GTR |
C0795956 |
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(消化系统疾病) |
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food is digested after a meal, molecules called chylomicrons are formed to carry |
CMRD |
db |
key |
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(Digestive system disease) |
fat and cholesterol from the intestine into the bloodstream. Chylomicrons are |
hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in |
ICD-10-CM |
E78.3 |
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also necessary for the absorption of certain fat-soluble vitamins, such as |
intestinal cells |
db |
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vitamin E and vitamin D. A lack of chylomicron transport causes severely |
lipid transport defect of intestine |
MeSH |
D006995 |
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decreased absorption (malabsorption) of dietary fats and fat-soluble vitamins. |
db |
key |
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Sufficient levels of fats, cholesterol, and vitamins are necessary for normal |
OMIM |
246700 |
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growth and development. |
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db |
key |
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html:p |
The signs and symptoms of chylomicron retention disease appear in the first few |
Orphanet |
71 |
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months of life. They can include failure to gain weight and grow at the expected |
db |
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rate (failure to thrive); diarrhea; and fatty, foul-smelling stools |
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SNOMED CT |
702364003 |
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(steatorrhea). Other features of this disorder may develop later in childhood |
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and often impair the function of the nervous system. Affected people may |
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eventually develop decreased reflexes (hyporeflexia) and a decreased ability to |
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feel vibrations. |
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related-gene-list |
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Citrullinemia |
https://ghr.nlm.nih.gov/condition/citrullinemia |
Type I citrullinemia is the most common form of the disorder, affecting |
html:p |
Citrullinemia is an inherited disorder that causes ammonia and other toxic |
ar |
autosomal recessive |
ASS1 |
https://ghr.nlm.nih.gov/gene/ASS1 |
CIT |
db |
key |
2017-05 |
2017-12-29 |
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瓜胺酸血症 |
about 1 in 57,000 people worldwide. Type II citrullinemia is found primarily in |
substances to accumulate in the blood. Two types of citrullinemia have been |
related-gene |
gene-symbol |
ghr-page |
citrullinuria |
GTR |
C0175683 |
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(尿素循環代謝) |
the Japanese population, where it occurs in an estimated 1 in 100,000 to 230,000 |
described; they have different signs and symptoms and are caused by mutations in |
SLC25A13 |
https://ghr.nlm.nih.gov/gene/SLC25A13 |
db |
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(Urea cycle metabolism) |
individuals. Type II also has been reported in other populations, including |
different genes. |
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GTR |
C1853942 |
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other people from East Asia, the Middle East, the United States, and the United |
html:p |
Type I citrullinemia (also known as classic citrullinemia) usually becomes |
db |
key |
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Kingdom. |
evident in the first few days of life. Affected infants typically appear normal |
GTR |
C1863844 |
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at birth, but as ammonia builds up, they experience a progressive lack of energy |
db |
key |
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(lethargy), poor feeding, vomiting, seizures, and loss of consciousness. Some |
GeneReviews |
citrin |
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affected individuals develop serious liver problems. The health problems |
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db |
key |
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associated with type I citrullinemia are life-threatening in many cases. Less |
GeneReviews |
ctlm |
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commonly, a milder form of type I citrullinemia can develop later in childhood |
db |
key |
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or adulthood. This later-onset form is associated with intense headaches, blind |
GeneReviews |
ucd-overview |
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spots (scotomas), problems with balance and muscle coordination (ataxia), and |
db |
key |
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lethargy. Some people with gene mutations that cause type I citrullinemia never |
ICD-10-CM |
E72.23 |
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experience signs and symptoms of the disorder. |
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Citrullinemia Type II |
html:p |
Type II citrullinemia chiefly affects the nervous system, causing confusion, |
MeSH |
D020159 |
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Citrin缺乏症 |
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restlessness, memory loss, abnormal behaviors (such as aggression, irritability, |
db |
key |
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瓜胺酸血症第二型 |
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and hyperactivity), seizures, and coma. Affected individuals often have |
OMIM |
215700 |
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specific food preferences, preferring protein-rich and fatty foods and avoiding |
db |
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carbohydrate-rich foods. The signs and symptoms of this disorder typically |
OMIM |
603471 |
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appear during adulthood (adult-onset) and can be triggered by certain |
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medications, infections, surgery, and alcohol intake. These signs and symptoms |
OMIM |
605814 |
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can be life-threatening in people with adult-onset type II citrullinemia. |
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html:p |
Adult-onset type II citrullinemia may also develop in people who as infants had |
Orphanet |
187 |
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a liver disorder called neonatal intrahepatic cholestasis caused by citrin |
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deficiency (NICCD). This liver condition is also known as neonatal-onset type II |
SNOMED CT |
398680004 |
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citrullinemia. NICCD blocks the flow of bile (a digestive fluid produced by the |
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liver) and prevents the body from processing certain nutrients properly. In |
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many cases, the signs and symptoms of NICCD go away within a year. In rare |
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cases, affected individuals develop other signs and symptoms in early childhood |
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after seeming to recover from NICCD, including delayed growth, extreme tiredness |
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(fatigue), specific food preferences (mentioned above), and abnormal amounts of |
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fats (lipids) in the blood (dyslipidemia). This condition is known as failure |
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to thrive and dyslipidemia caused by citrin deficiency (FTTDCD). Years or even |
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decades later, some people with NICCD or FTTDCD develop the features of |
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adult-onset type II citrullinemia. |
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inheritance-pattern-list |
related-gene-list |
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CLCN2-related leukoencephalopathy |
https://ghr.nlm.nih.gov/condition/clcn2-related-leukoencephalopathy |
The prevalence of CLCN2-related leukoencephalopathy is unknown. At least 16 |
html:p |
html:i |
|
ar |
autosomal recessive |
CLCN2 |
synonym |
db-key |
db |
key |
2017-12 |
2017-12-29 |
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cases have been reported in the scientific literature. |
CLCN2 |
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synonym |
|
GTR |
C3810242 |
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synonym |
db-key |
db |
key |
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synonym |
|
GeneReviews |
cc2-leuk |
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synonym |
db-key |
db |
key |
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MeSH |
D056784 |
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db-key |
db |
key |
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OMIM |
615651 |
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db-key |
db |
key |
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Orphanet |
363540 |
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html:p |
Rarely, affected individuals have dizziness (vertigo), ringing in the ears |
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(tinnitus), hearing loss, episodes of abnormal movements (paroxysmal kinesigenic |
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dyskinesia), or psychiatric disorders. However, it is unclear whether these are |
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html:i |
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CLCN2 |
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html:p |
html:i |
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CLCN2 |
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related-gene-list |
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Cleidocranial dysplasia |
https://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia |
Cleidocranial dysplasia occurs in approximately 1 per million individuals |
html:p |
Cleidocranial dysplasia is a condition that primarily affects development of the |
ad |
autosomal dominant |
RUNX2 |
https://ghr.nlm.nih.gov/gene/RUNX2 |
cleidocranial dysostosis |
db |
key |
2017-08 |
2017-12-29 |
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顱骨鎖骨發育不良症 |
|
worldwide. It is likely underdiagnosed because many affected individuals have |
bones and teeth. Signs and symptoms of cleidocranial dysplasia can vary widely |
dento-osseous dysplasia |
GTR |
C0008928 |
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鎖骨顱骨發育異常 |
mild signs and symptoms. |
in severity, even within the same family. |
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Marie-Sainton syndrome |
db |
key |
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html:p |
Individuals with cleidocranial dysplasia usually have underdeveloped or absent |
GeneReviews |
ccd |
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collarbones, also called clavicles ("cleido-" in the condition name refers to |
db |
key |
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these bones). As a result, their shoulders are narrow and sloping, can be |
MeSH |
D002973 |
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brought unusually close together in front of the body, and in some cases can be |
db |
key |
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made to meet in the middle of the body. Delayed maturation of the skull |
|
OMIM |
119600 |
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(cranium) is also characteristic of this condition, including delayed closing of |
db |
key |
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the growth lines where the bones of the skull meet (sutures) and larger than |
Orphanet |
1452 |
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normal spaces (fontanelles) between the skull bones that are noticeable as "soft |
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spots" on the heads of infants. The fontanelles normally close in early |
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SNOMED CT |
65976001 |
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childhood, but they may remain open throughout life in people with this |
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disorder. Some individuals with cleidocranial dysplasia have extra pieces of |
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bone called Wormian bones within the sutures. |
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Affected individuals are often shorter than other members of their family at the |
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same age. Many also have short, tapered fingers and broad thumbs; flat feet; |
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bowed legs or knock knees; short shoulder blades (scapulae); and an abnormal |
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curvature of the spine (scoliosis). Typical facial features include a wide, |
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short skull (brachycephaly); a prominent forehead; wide-set eyes |
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(hypertelorism); a flat nose; and a small upper jaw. |
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Individuals with cleidocranial dysplasia often have decreased bone density |
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(osteopenia) and may develop osteoporosis, a condition that makes bones |
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progressively more brittle and prone to fracture, at a relatively early age. |
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Women with cleidocranial dysplasia have an increased risk of requiring a |
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cesarean section when delivering a baby, due to a narrow pelvis preventing |
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passage of the infant's head. |
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html:p |
Dental abnormalities are very common in cleidocranial dysplasia and can include |
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delayed loss of the primary (baby) teeth; delayed appearance of the secondary |
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(adult) teeth; unusually shaped, peg-like teeth; misalignment of the teeth and |
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jaws (malocclusion); and extra teeth, sometimes accompanied by cysts in the |
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gums. |
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html:p |
In addition to skeletal and dental abnormalities, people with cleidocranial |
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dysplasia may have hearing loss and are prone to sinus and ear infections. Some |
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young children with this condition are mildly delayed in the development of |
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motor skills such as crawling and walking, but intelligence is unaffected. |
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related-gene-list |
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CLN1 disease |
https://ghr.nlm.nih.gov/condition/cln1-disease |
The incidence of CLN1 disease is unknown; more than 200 cases have been |
html:p |
CLN1 disease is an inherited disorder that primarily affects the nervous system. |
ar |
autosomal recessive |
PPT1 |
https://ghr.nlm.nih.gov/gene/PPT1 |
CLN1 |
db |
key |
2016-10 |
2017-12-29 |
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(nervous) |
described in the scientific literature. Collectively, all forms of NCL affect an |
Individuals with this condition have normal development in infancy, but |
infantile Batten disease |
GTR |
C0268281 |
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estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, |
typically by 18 months they begin to lose previously acquired skills |
infantile neuronal ceroid lipofuscinosis |
db |
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where approximately 1 in 12,500 individuals are affected. |
(developmental regression). In affected children, brain cells die over time, |
neuronal ceroid lipofuscinosis 1 |
GTR |
C1850451 |
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leading to an overall loss of brain tissue (brain atrophy) and an unusually |
neuronal ceroid lipofuscinosis, infantile |
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small head (microcephaly). Children with CLN1 disease have decreased muscle tone |
Santavuori-Haltia disease |
GeneReviews |
ncl |
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(hypotonia), intellectual and motor disability, and rarely are able to speak or |
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walk. Individuals with this condition often have muscle twitches (myoclonus), |
ICD-10-CM |
E75.4 |
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recurrent seizures (epilepsy), and vision loss. Children with CLN1 disease |
db |
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usually do not survive past adolescence. |
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MeSH |
D009472 |
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html:p |
Some people with this condition do not develop symptoms until later in childhood |
db |
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or in adulthood. As with younger affected children, older individuals develop a |
OMIM |
256730 |
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decline in intellectual function, myoclonus, epilepsy, and vision loss. Adults |
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with CLN1 disease may also have movement disorders, including impaired muscle |
Orphanet |
79263 |
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coordination (ataxia) or a pattern of movement abnormalities known as |
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parkinsonism. |
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SNOMED CT |
58258004 |
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html:p |
CLN1 disease is one of a group of disorders known as neuronal ceroid |
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lipofuscinoses (NCLs), which may also be collectively referred to as Batten |
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disease. All these disorders affect the nervous system and typically cause |
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worsening problems with vision, movement, and thinking ability. The different |
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NCLs are distinguished by their genetic cause. Each disease type is given the |
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designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to |
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indicate its subtype. |
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related-gene-list |
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CLN10 disease |
https://ghr.nlm.nih.gov/condition/cln10-disease |
The prevalence of CLN10 disease is unknown; at least 11 cases have been |
html:p |
CLN10 disease is a severe disorder that primarily affects the nervous system. |
ar |
autosomal recessive |
CTSD |
https://ghr.nlm.nih.gov/gene/CTSD |
cathepsin D deficiency |
db |
key |
2016-10 |
2017-12-29 |
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described. |
Individuals with this condition typically show signs and symptoms soon after |
cathepsin D deficient neuronal ceroid lipofuscinosis |
GTR |
C1864670 |
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birth. These signs and symptoms can include muscle rigidity, respiratory |
CLN10 |
db |
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failure, and prolonged episodes of seizure activity that last several minutes |
congenital neuronal ceroid lipofuscinosis |
GeneReviews |
ncl |
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(status epilepticus). It is likely that some affected individuals also have |
neuronal ceroid lipofuscinosis 10, 神經元蠟樣脂褐質儲積症10 |
db |
key |
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seizures before birth while in the womb. Infants with CLN10 disease have |
neuronal ceroid lipofuscinosis due to cathepsin D deficiency |
ICD-10-CM |
E75.4 |
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unusually small heads (microcephaly) with brains that may be less than half the |
db |
key |
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normal size. There is a loss of brain cells in areas that coordinate movement |
MeSH |
D009472 |
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(the cerebellum) and control thinking and emotions (the cerebral cortex). Nerve |
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cells in the brain also lack a fatty substance called myelin, which protects |
OMIM |
610127 |
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them and promotes efficient transmission of nerve impulses. Infants with CLN10 |
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disease often die hours to weeks after birth. |
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Orphanet |
168486 |
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html:p |
In some individuals with CLN10 disease, the condition does not appear until |
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later in life, between late infancy and adulthood. These individuals have a |
SNOMED CT |
720830009 |
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gradual loss of brain cells and often develop problems with balance and |
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coordination (ataxia), loss of speech, a progressive loss in intellectual |
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SNOMED CT |
720831008 |
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functioning (cognitive decline), and vision loss. Individuals with later-onset |
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CLN10 disease have a shortened lifespan, depending on when their signs and |
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symptoms first started. |
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html:p |
CLN10 disease is one of a group of disorders known as neuronal ceroid |
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lipofuscinoses (NCLs). All of these disorders affect the nervous system and |
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typically cause progressive problems with vision, movement, and thinking |
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ability. The different NCLs are distinguished by their genetic cause. Each |
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disease type is given the designation "CLN," meaning ceroid lipofuscinosis, |
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neuronal, and then a number to indicate its subtype. |
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related-gene-list |
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CLN2 disease |
https://ghr.nlm.nih.gov/condition/cln2-disease |
In the Newfoundland province of Canada, the incidence of CLN2 disease is |
html:p |
CLN2 disease is an inherited disorder that primarily affects the nervous system. |
ar |
autosomal recessive |
TPP1 |
https://ghr.nlm.nih.gov/gene/TPP1 |
Jansky-Bielschowsky disease |
db |
key |
2016-11 |
2017-12-29 |
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estimated to be 9 in 100,000 births. The incidence of the condition outside of |
The signs and symptoms of this condition typically begin between ages 2 and 4. |
late-infantile Batten disease |
GTR |
C0022340 |
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this population is unknown. More than 300 cases worldwide have been described in |
The initial features usually include recurrent seizures (epilepsy) and |
late-infantile neuronal ceroid lipofuscinosis |
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the scientific literature. |
difficulty coordinating movements (ataxia). Affected children also develop |
LINCL |
GTR |
C0027877 |
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muscle twitches (myoclonus) and vision loss. CLN2 disease affects motor skills, |
neuronal ceroid lipofuscinosis, late-infantile |
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such as sitting and walking, and speech development. This condition also causes |
GTR |
C1876161 |
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the loss of previously acquired skills (developmental regression), intellectual |
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disability that gradually gets worse, and behavioral problems. Individuals with |
GeneReviews |
ncl |
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this condition often require the use of a wheelchair by late childhood and |
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typically do not survive past their teens. |
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ICD-10-CM |
E75.4 |
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html:p |
Some children with CLN2 disease do not develop symptoms until later in |
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childhood, typically after age 4. These individuals tend to have milder features |
MeSH |
D009472 |
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overall compared to those diagnosed earlier, but with more severe ataxia. They |
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have a shortened life expectancy, although they tend to survive into adulthood. |
OMIM |
204500 |
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html:p |
CLN2 disease is one of a group of disorders known as neuronal ceroid |
|
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lipofuscinoses (NCLs), which may also be collectively referred to as Batten |
Orphanet |
168491 |
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disease. All these disorders affect the nervous system and typically cause |
db |
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worsening problems with vision, movement, and thinking ability. The different |
SNOMED CT |
14637005 |
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NCLs are distinguished by their genetic cause. Each disease type is given the |
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designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to |
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indicate its subtype. |
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related-gene-list |
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CLN3 disease |
https://ghr.nlm.nih.gov/condition/cln3-disease |
CLN3 disease is the most common type of NCL, but its exact prevalence is |
html:p |
CLN3 disease is an inherited disorder that primarily affects the nervous system. |
ar |
autosomal recessive |
CLN3 |
https://ghr.nlm.nih.gov/gene/CLN3 |
Batten-Mayou disease |
db |
key |
2017-01 |
2017-12-29 |
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unknown; more than 400 cases have been described in the scientific literature. |
After 4 to 6 years of normal development, children with this condition develop |
Batten-Spielmeyer-Vogt disease |
GTR |
C0751383 |
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Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals |
vision impairment, intellectual disability, movement problems, speech |
CLN3-related neuronal ceroid-lipofuscinosis |
db |
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worldwide. |
difficulties, and seizures, which worsen over time. |
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juvenile Batten disease |
GeneReviews |
ncl |
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html:p |
In children with CLN3 disease, problems with vision often begin between the ages |
Juvenile cerebroretinal degeneration |
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of 4 and 8 years. Vision impairment worsens with age, and people with CLN3 |
juvenile neuronal ceroid lipofuscinosis |
ICD-10-CM |
E75.4 |
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disease are often blind by late childhood or adolescence. Also around age 4 to |
Spielmeyer-Vogt disease |
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8, children with CLN3 disease start to fall behind in school. They have |
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MeSH |
D009472 |
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difficulty learning new information and lose previously acquired skills |
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(developmental regression), usually beginning with loss of the ability to speak |
OMIM |
204200 |
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in complete sentences. |
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html:p |
Movement abnormalities often develop in adolescence in people with CLN3 disease. |
Orphanet |
79264 |
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These abnormalities include muscle rigidity or stiffness, slow or diminished |
db |
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movements (hypokinesia), and a stooped posture. Over time, affected individuals |
SNOMED CT |
61663001 |
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lose the ability to walk or sit independently and require wheelchair assistance. |
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In rare cases, people with CLN3 disease have heart (cardiac) problems, |
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including heart rhythm abnormalities and an increase in the size of the heart |
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muscle (hypertrophic cardiomyopathy). These heart problems usually develop in |
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adolescence or early adulthood. Most people with CLN3 disease live into early |
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adulthood. |
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CLN3 disease is one of a group of disorders known as neuronal ceroid |
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lipofuscinoses (NCLs), which may also be collectively referred to as Batten |
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disease. All these disorders affect the nervous system and typically cause |
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worsening problems with vision, movement, and thinking ability. The different |
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NCLs are distinguished by their genetic cause. Each disease type is given the |
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designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to |
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indicate its subtype. |
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related-gene-list |
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CLN4 disease |
https://ghr.nlm.nih.gov/condition/cln4-disease |
CLN4 disease is a rare disorder, but its prevalence is unknown. |
html:p |
CLN4 disease is a condition that primarily affects the nervous system, causing |
ad |
autosomal dominant |
DNAJC5 |
https://ghr.nlm.nih.gov/gene/DNAJC5 |
adult neuronal ceroid lipofuscinosis |
db |
key |
2017-01 |
2017-12-29 |
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Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals |
problems with movement and intellectual function that worsen over time. The |
ceroid cipofuscinosis, neuronal, 4B, autosomal dominant |
GTR |
C1834207 |
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worldwide. |
signs and symptoms of CLN4 disease typically appear around age 30, but they can |
CLN4B |
db |
key |
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develop anytime between adolescence and late adulthood. |
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GeneReviews |
ncl |
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html:p |
People with CLN4 disease often develop seizures and uncontrollable muscle jerks |
db |
key |
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(myoclonic epilepsy), a decline in intellectual function (dementia), problems |
ICD-10-CM |
E75.4 |
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with coordination and balance (ataxia), tremors or other involuntary movements |
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(motor tics), and speech difficulties (dysarthria). The signs and symptoms of |
MeSH |
D009472 |
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CLN4 disease worsen over time, and affected individuals usually survive about 15 |
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years after the disorder begins. |
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OMIM |
162350 |
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html:p |
CLN4 disease is one of a group of disorders known as neuronal ceroid |
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db |
key |
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lipofuscinoses (NCLs), which may also be collectively referred to as Batten |
Orphanet |
79262 |
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disease. All these disorders affect the nervous system and typically cause |
db |
key |
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worsening problems with vision, movement, and thinking ability. The different |
SNOMED CT |
62009002 |
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NCLs are distinguished by their genetic cause. Each disease type is given the |
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designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to |
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indicate its subtype. |
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related-gene-list |
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CLN5 disease |
https://ghr.nlm.nih.gov/condition/cln5-disease |
The incidence of CLN5 disease is unknown; more than 85 cases have been |
html:p |
CLN5 disease is an inherited disorder that primarily affects the nervous system. |
ar |
autosomal recessive |
CLN5 |
https://ghr.nlm.nih.gov/gene/CLN5 |
Finnish variant late infantile neuronal ceroid lipofuscinosis |
db |
key |
2016-11 |
2017-12-29 |
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described in the scientific literature. CLN5 disease was originally thought to |
The signs and symptoms of this condition can begin anytime between childhood |
Finnish vLINCL |
GTR |
C1850442 |
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affect only the Finnish population as they were the first individuals to be |
and early adulthood, but they typically appear around age 5. Children with CLN5 |
Jansky-Bielschowsky disease |
db |
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diagnosed with the condition. However, research has since shown that CLN5 |
disease often have normal development until they experience the first signs of |
late-infantile neuronal ceroid lipofuscinosis |
GeneReviews |
ncl |
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disease affects populations worldwide. NCLs, including CLN5 disease, are still |
the condition, which are usually problems with movement and a loss of previously |
neuronal ceroid lipofuscinosis 5 |
db |
key |
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most common in Finland, where approximately 1 in 12,500 individuals are |
acquired motor skills (developmental regression). Other features of the |
neuronal ceroid lipofuscinosis, late-infantile |
ICD-10-CM |
E75.4 |
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affected. Collectively, all forms of NCL affect an estimated 1 in 100,000 |
condition include recurrent seizures that involve uncontrollable muscle jerks |
vLINCL |
db |
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individuals worldwide. |
(myoclonic epilepsy), difficulty coordinating movements (ataxia), vision loss, |
MeSH |
D009472 |
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and a decline in intellectual function. The life expectancy of people with CLN5 |
db |
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disease varies; affected individuals usually survive into adolescence or |
|
OMIM |
256731 |
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mid-adulthood. |
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html:p |
CLN5 disease is one of a group of disorders known as neuronal ceroid |
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Orphanet |
168491 |
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lipofuscinoses (NCLs), which may also be collectively referred to as Batten |
db |
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disease. All these disorders affect the nervous system and typically cause |
SNOMED CT |
14637005 |
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worsening problems with vision, movement, and thinking ability. The different |
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NCLs are distinguished by their genetic cause. Each disease type is given the |
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designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to |
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indicate its subtype. |
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related-gene-list |
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CLN6 disease |
https://ghr.nlm.nih.gov/condition/cln6-disease |
The incidence of CLN6 disease is unknown; more than 125 cases have been |
html:p |
CLN6 disease is an inherited disorder that primarily affects the nervous system. |
ar |
autosomal recessive |
CLN6 |
https://ghr.nlm.nih.gov/gene/CLN6 |
ceroid lipofuscinosis neuronal 6 |
db |
key |
2017-01 |
2017-12-29 |
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described in the scientific literature. Collectively, all forms of NCL affect an |
The signs and symptoms of this condition typically begin between early and late |
CLN6-related neuronal ceroid lipofuscinosis |
GTR |
C1866282 |
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estimated 1 in 100,000 individuals worldwide. |
childhood, but sometimes they can appear in adulthood. |
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neuronal ceroid lipofuscinosis 6 |
db |
key |
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html:p |
Most children with CLN6 disease initially experience the loss of previously |
GeneReviews |
ncl |
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acquired skills (developmental regression). Affected individuals can also |
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develop recurrent seizures (epilepsy), difficulty coordinating movements |
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ICD-10-CM |
E75.4 |
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(ataxia), muscle twitches (myoclonus), impaired speech (dysarthria), and vision |
db |
key |
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loss. The movement problems worsen over time until affected children cannot |
MeSH |
D009472 |
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walk, stand, or sit without assistance. Intellectual function also declines over |
db |
key |
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time. Most children with CLN6 disease do not survive into adulthood. |
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OMIM |
601780 |
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html:p |
Some people with CLN6 disease do not show signs or symptoms of the condition |
db |
key |
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until adulthood, typically after age 30. These individuals can have epilepsy, |
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ataxia, dysarthria, and a progressive loss of intellectual function. CLN6 |
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disease usually does not cause vision loss in affected adults. Adults with this |
SNOMED CT |
14637005 |
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condition do not often survive more than 10 years after diagnosis. |
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html:p |
CLN6 disease is one of a group of disorders known as neuronal ceroid |
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lipofuscinoses (NCLs), which may also be collectively referred to as Batten |
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disease. All these disorders affect the nervous system and typically cause |
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worsening problems with vision, movement, and thinking ability. The different |
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NCLs are distinguished by their genetic cause. Each disease type is given the |
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designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to |
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indicate its subtype. |
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related-gene-list |
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CLN7 disease |
https://ghr.nlm.nih.gov/condition/cln7-disease |
The incidence of CLN7 disease is unknown; more than 70 cases have been |
html:p |
CLN7 disease is an inherited disorder that primarily affects the nervous system. |
ar |
autosomal recessive |
MFSD8 |
https://ghr.nlm.nih.gov/gene/MFSD8 |
CLN7 |
db |
key |
2016-12 |
2017-12-29 |
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described in the scientific literature. CLN7 disease was first diagnosed in the |
The signs and symptoms of this condition typically begin between ages 2 and 7. |
CLN7 disease, late infantile |
GTR |
C1838571 |
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Turkish population and was thought to be limited to individuals in that group. |
The initial features usually include recurrent seizures (epilepsy) and the loss |
MFSD8-related neuronal ceroid lipofuscinosis |
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However, CLN7 disease has now been identified in people around the world. |
of previously acquired skills (developmental regression). Affected children also |
GeneReviews |
ncl |
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Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals |
develop muscle twitches (myoclonus), difficulty coordinating movements |
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worldwide. |
(ataxia), speech impairment, and vision loss. Mental functioning and motor |
ICD-10-CM |
E75.4 |
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skills (such as sitting and walking) decline with age. Individuals with CLN7 |
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disease typically do not survive past their teens. |
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MeSH |
D009472 |
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html:p |
CLN7 disease is one of a group of disorders known as neuronal ceroid |
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lipofuscinoses (NCLs), which may also be collectively referred to as Batten |
OMIM |
610951 |
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disease. All these disorders affect the nervous system and typically cause |
db |
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worsening problems with vision, movement, and thinking ability. The different |
Orphanet |
168491 |
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NCLs are distinguished by their genetic cause. Each disease type is given the |
db |
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designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to |
SNOMED CT |
14637005 |
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indicate its subtype. |
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related-gene-list |
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CLN8 disease |
https://ghr.nlm.nih.gov/condition/cln8-disease |
The less-severe form of CLN8 disease appears to affect only individuals of |
html:p |
CLN8 disease is an inherited disorder that varies in severity and primarily |
ar |
autosomal recessive |
CLN8 |
https://ghr.nlm.nih.gov/gene/CLN8 |
neuronal ceroid lipofuscinosis 8 |
db |
key |
2016-12 |
2017-12-29 |
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Finnish ancestry, particularly those from the Kainuu region of northern Finland, |
affects the nervous system. The condition is generally separated into |
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GTR |
C1838570 |
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which is why it is sometimes called Northern epilepsy. Approximately 1 in |
less-severe and more-severe forms, based on the types of signs and symptoms that |
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10,000 individuals in this region have the condition. The prevalence of the |
develop and life expectancy. |
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GTR |
C1864923 |
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more-severe form of CLN8 disease is unknown. Collectively, all forms of NCL |
html:p |
The less-severe form of CLN8 disease, sometimes referred to as Northern |
db |
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affect an estimated 1 in 100,000 individuals worldwide. |
epilepsy, is characterized by recurrent seizures (epilepsy) and a decline in |
GeneReviews |
ncl |
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intellectual function that begins between ages 5 and 10. The seizures in this |
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form may be resistant to treatment and are often the generalized tonic-clonic |
ICD-10-CM |
E75.4 |
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type, which involve muscle rigidity, convulsions, and loss of consciousness. |
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Some people with this form of CLN8 disease also experience partial seizures, |
MeSH |
D009472 |
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which do not cause a loss of consciousness. The seizures occur approximately one |
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to two times per month until adolescence; by early adulthood the frequency |
MeSH |
D020191 |
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decreases to about four to six times per year. By middle age, seizures become |
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even less frequent. In addition to seizures, affected individuals experience a |
OMIM |
600143 |
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gradual decline in intellectual function and develop problems with coordination |
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and balance. Vision problems may occur in early to mid-adulthood. Individuals |
OMIM |
610003 |
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with the less-severe form of CLN8 disease often live into late adulthood. |
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html:p |
The more-severe form of CLN8 disease typically begins between ages 2 and 7.The |
Orphanet |
216 |
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seizures in this form involve uncontrollable muscle jerks (myoclonic epilepsy). |
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Individuals with the more-severe form have a more pronounced decline in |
SNOMED CT |
703526007 |
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intellectual function and usually lose the ability to speak. Vision loss is also |
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common. People with this form of CLN8 disease have increasing difficulty |
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walking and coordinating movements (ataxia), eventually becoming immobile. |
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Individuals with the more-severe form of CLN8 disease usually survive only into |
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late childhood or adolescence. |
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html:p |
CLN8 disease is one of a group of disorders known as neuronal ceroid |
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lipofuscinoses (NCLs), which may also be collectively referred to as Batten |
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disease. All these disorders affect the nervous system and typically cause |
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worsening problems with vision, movement, and thinking ability. The different |
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NCLs are distinguished by their genetic cause. Each disease type is given the |
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designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to |
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indicate its subtype. |
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related-gene-list |
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Clopidogrel resistance |
https://ghr.nlm.nih.gov/condition/clopidogrel-resistance |
Clopidogrel resistance is a common condition, and its incidence can vary |
html:p |
Clopidogrel resistance is a condition in which the drug clopidogrel is less |
ac |
autosomal codominant |
CYP2C19 |
https://ghr.nlm.nih.gov/gene/CYP2C19 |
CYP2C19-related poor drug metabolism |
db |
key |
2015-12 |
2017-12-29 |
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保栓通錠 |
|
depending on ancestry. About half of individuals with Asian ancestry have |
effective than normal in people who are treated with it. Clopidogrel (also known |
poor metabolism of clopidogrel |
GTR |
C1836023 |
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clopidogrel resistance, with 10 percent of these individuals classified as poor |
as Plavix) is an antiplatelet drug, which means that it prevents blood cell |
resistance to clopidogrel |
db |
key |
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metabolizers. Among people from western countries, nearly 30 percent are |
fragments called platelets from sticking together (aggregating) and forming |
GTR |
C2674941 |
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estimated to have clopidogrel resistance, with about 3 percent classified as |
blood clots. This drug is typically given to prevent blood clot formation in |
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poor metabolizers. |
individuals with a history of stroke; heart attack; a blood clot in the deep |
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MeSH |
D004305 |
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veins of the arms or legs (deep vein thrombosis); or plaque buildup |
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(atherosclerosis) in the blood vessels leading from the heart, which are opened |
OMIM |
609535 |
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by placement of a small thin tube (stent). |
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html:p |
People with clopidogrel resistance who receive clopidogrel are at risk of |
|
Orphanet |
240935 |
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serious, sometimes fatal, complications. These individuals may have another |
db |
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heart attack or stroke caused by abnormal blood clot formation; those with |
SNOMED CT |
419253001 |
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stents can develop blood clots (thromboses) within the stents, impeding blood |
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flow. |
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html:p |
People with clopidogrel resistance can be divided into two categories: |
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intermediate metabolizers and poor metabolizers. Intermediate metabolizers are |
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able to process some clopidogrel, so they receive partial benefit from the |
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treatment but are not protected from developing a harmful blood clot. Poor |
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metabolizers process little or no clopidogrel, so they receive very limited |
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benefit from the treatment and are at risk of forming a harmful blood clot. |
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html:p |
Clopidogrel resistance does not appear to cause any health problems other than |
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those associated with clopidogrel drug treatment. |
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related-gene-list |
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Clouston syndrome |
https://ghr.nlm.nih.gov/condition/clouston-syndrome |
The prevalence of Clouston syndrome is unknown. Cases have been reported in |
html:p |
Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 |
ad |
autosomal dominant |
GJB6 |
https://ghr.nlm.nih.gov/gene/GJB6 |
Clouston hidrotic ectodermal dysplasia |
db |
key |
2014-03 |
2017-12-29 |
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克勞斯頓綜合症 |
many populations; the disorder is especially common among people of |
conditions characterized by abnormal development of some or all of the |
Clouston's syndrome |
GTR |
C0162361 |
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(外胚層) |
|
French-Canadian descent. |
ectodermal structures, which include the skin, hair, nails, teeth, and sweat |
ECTD2 |
db |
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(ectodermal) |
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glands. Specifically, Clouston syndrome is characterized by abnormalities of the |
ectodermal dysplasia 2, Clouston type |
GeneReviews |
ed2 |
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hair, nails, and skin, with the teeth and sweat glands being unaffected. |
HED2 |
db |
key |
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html:p |
In infants with Clouston syndrome, scalp hair is sparse, patchy, and lighter in |
hidrotic ectodermal dysplasia 2 |
MeSH |
D004476 |
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color than the hair of other family members; it is also fragile and easily |
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db |
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broken. By puberty, the hair problems may worsen until all the hair on the scalp |
OMIM |
129500 |
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is lost (total alopecia). The eyelashes, eyebrows, underarm (axillary) hair, |
db |
key |
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and pubic hair are also sparse or absent. |
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Orphanet |
189 |
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html:p |
Abnormal growth of fingernails and toenails (nail dystrophy) is also |
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characteristic of Clouston syndrome. The nails may appear white in the first |
SNOMED CT |
54209007 |
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years of life. They grow slowly and gradually become thick and misshapen. In |
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some people with Clouston syndrome, nail dystrophy is the most noticeable |
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feature of the disorder. |
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html:p |
Many people with Clouston syndrome have thick skin on the palms of the hands and |
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soles of the feet (palmoplantar hyperkeratosis); areas of the skin, especially |
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over the joints, that are darker in color than the surrounding skin |
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(hyperpigmentation); and widened and rounded tips of the fingers (clubbing). |
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related-gene-list |
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CLPB deficiency |
https://ghr.nlm.nih.gov/condition/clpb-deficiency |
CLPB deficiency is a rare disorder; the prevalence is not known. At least |
html:p |
CLPB deficiency is a rare disorder characterized by neurological problems and a |
ar |
autosomal recessive |
CLPB |
https://ghr.nlm.nih.gov/gene/CLPB |
3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome |
db |
key |
2017-02 |
2017-12-29 |
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26 cases have been reported in the medical literature. |
shortage of infection-fighting white blood cells (neutropenia). Signs and |
3-methylglutaconic aciduria type 7 |
GTR |
C4225393 |
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symptoms of the condition develop by early childhood, and their severity varies |
3-methylglutaconic aciduria type VII |
db |
key |
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widely among affected individuals. |
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3-methylglutaconic aciduria with cataracts, neurologic involvement and |
GeneReviews |
clpb-def |
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html:p |
In the most severely affected individuals, features of CLPB deficiency are |
neutropenia |
db |
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apparent in infancy and sometimes at birth. Affected babies have serious |
MEGCANN |
MeSH |
D001927 |
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neurological problems, which can include an exaggerated startle reaction |
MGA7 |
db |
key |
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(hyperekplexia) to unexpected stimuli such as loud noises, reduced movement, |
MGCA7 |
OMIM |
616271 |
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muscle tone that is either decreased (hypotonia) or increased (hypertonia), |
db |
key |
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swallowing problems, difficulty breathing, and recurrent seizures (epilepsy). |
Orphanet |
445038 |
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These babies may also have movement abnormalities, such as difficulty |
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coordinating movements (ataxia), involuntary tensing of the muscles (dystonia), |
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or uncontrolled movements of the body (dyskinesia). In addition, these babies |
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have recurrent, life-threatening infections due to severe neutropenia. Affected |
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individuals are at risk of developing a blood cell disorder called |
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myelodysplastic syndrome or a form of blood cancer called leukemia. Because of |
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their severe health problems, affected infants usually live only a few weeks or |
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months. |
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html:p |
Moderately affected individuals have neurological problems similar to those |
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described above, although they are less severe. They include hypotonia, muscle |
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stiffness (spasticity), and movement abnormalities. Other features of moderate |
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CLPB deficiency include epilepsy and mild to severe intellectual disability. |
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Neutropenia in these individuals can lead to recurrent infections, although they |
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are not life-threatening. |
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html:p |
Mildly affected individuals have no neurological problems, and although they |
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have neutropenia, it does not increase the risk of infections. Some people with |
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mild CLPB deficiency develop deposits of calcium in the kidneys |
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(nephrocalcinosis) or kidney (renal) cysts. |
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Many people with mild, moderate, or severe CLPB deficiency have clouding of the |
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lenses of the eyes (cataracts) from birth (congenital) or beginning in infancy. |
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html:p |
CLPB deficiency is associated with increased levels of a substance called |
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3-methylglutaconic acid in the urine (3-methylglutaconic aciduria). This |
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abnormality, which provides a clue to the diagnosis, does not appear to cause |
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any health problems. |
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related-gene-list |
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Coats plus syndrome |
https://ghr.nlm.nih.gov/condition/coats-plus-syndrome |
Coats plus syndrome appears to be a rare disorder. Its prevalence is |
html:p |
Coats plus syndrome is an inherited condition characterized by an eye disorder |
ar |
autosomal recessive |
CTC1 |
https://ghr.nlm.nih.gov/gene/CTC1 |
cerebroretinal microangiopathy with calcifications and cysts |
db |
key |
2014-04 |
2017-12-29 |
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unknown. |
called Coats disease plus abnormalities of the brain, bones, gastrointestinal |
CRMCC |
GTR |
C2677299 |
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system, and other parts of the body. |
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html:p |
Coats disease affects the retina, which is the tissue at the back of the eye |
MeSH |
D012164 |
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that detects light and color. The disorder causes blood vessels in the retina to |
db |
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be abnormally enlarged (dilated) and twisted. The abnormal vessels leak fluid, |
OMIM |
612199 |
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which can eventually cause the layers of the retina to separate (retinal |
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detachment). These eye abnormalities often result in vision loss. |
|
Orphanet |
313838 |
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html:p |
People with Coats plus syndrome also have brain abnormalities including abnormal |
db |
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deposits of calcium (calcification), the development of fluid-filled pockets |
|
SNOMED CT |
711482008 |
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called cysts, and loss of a type of brain tissue known as white matter |
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(leukodystrophy). These brain abnormalities worsen over time, causing slow |
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growth, movement disorders, seizures, and a decline in intellectual function. |
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html:p |
Other features of Coats plus syndrome include low bone density (osteopenia), |
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which causes bones to be fragile and break easily, and a shortage of red blood |
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cells (anemia), which can lead to unusually pale skin (pallor) and extreme |
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tiredness (fatigue). Affected individuals can also have serious or |
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life-threatening complications including abnormal bleeding in the |
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gastrointestinal tract, high blood pressure in the vein that supplies blood to |
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the liver (portal hypertension), and liver failure. Less common features of |
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Coats plus syndrome can include sparse, prematurely gray hair; malformations of |
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the fingernails and toenails; and abnormalities of skin coloring (pigmentation), |
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such as light brown patches called café-au-lait spots. |
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html:p |
Coats plus syndrome and a disorder called leukoencephalopathy with |
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calcifications and cysts (LCC; also called Labrune syndrome) have sometimes been |
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grouped together under the umbrella term cerebroretinal microangiopathy with |
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calcifications and cysts (CRMCC) because they feature very similar brain |
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abnormalities. However, researchers recently found that Coats plus syndrome and |
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LCC have different genetic causes, and they are now generally described as |
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separate disorders instead of variants of a single condition. |
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related-gene-list |
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Cockayne syndrome |
https://ghr.nlm.nih.gov/condition/cockayne-syndrome |
Cockayne syndrome is estimated to occur in 2 to 3 per million newborns in |
html:p |
Cockayne syndrome is a rare disorder characterized by an abnormally small head |
ar |
autosomal recessive |
ERCC6 |
https://ghr.nlm.nih.gov/gene/ERCC6 |
CS |
db |
key |
2016-06 |
2017-12-29 |
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|
柯凱因氏症候群 |
the United States and Europe. |
size (microcephaly), a failure to gain weight and grow at the expected rate |
related-gene |
gene-symbol |
ghr-page |
dwarfism-retinal atrophy-deafness syndrome |
GTR |
C0009207 |
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(failure to thrive) leading to very short stature, and delayed development. The |
ERCC8 |
https://ghr.nlm.nih.gov/gene/ERCC8 |
db |
key |
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signs and symptoms of this condition are usually apparent from infancy, and they |
GTR |
C0751037 |
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worsen over time. Most affected individuals have an increased sensitivity to |
db |
key |
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sunlight (photosensitivity), and in some cases even a small amount of sun |
GTR |
C0751039 |
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exposure can cause a sunburn or blistering of the skin. Other signs and symptoms |
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often include hearing loss, vision loss, severe tooth decay, bone |
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GTR |
C2931277 |
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abnormalities, hands and feet that are cold all the time, and changes in the |
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brain that can be seen on brain scans. |
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GeneReviews |
cockayne |
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html:p |
People with Cockayne syndrome have a serious reaction to an antibiotic |
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medication called metronidazole. If affected individuals take this medication, |
MeSH |
D003057 |
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it can cause life-threatening liver failure. |
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html:p |
Cockayne syndrome is sometimes divided into types I, II, and III based on the |
OMIM |
133540 |
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severity and age of onset of symptoms. However, the differences between the |
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types are not always clear-cut, and some researchers believe the signs and |
OMIM |
214150 |
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symptoms reflect a spectrum instead of distinct types. Cockayne syndrome type II |
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is also known as cerebro-oculo-facio-skeletal (COFS) syndrome, and while some |
OMIM |
216400 |
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researchers consider it to be a separate but similar condition, others classify |
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it as part of the Cockayne syndrome disease spectrum. |
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Orphanet |
191 |
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related-gene-list |
|
SNOMED CT |
21086008 |
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Coffin-Lowry syndrome |
https://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome |
The incidence of this condition is uncertain, but researchers estimate that |
html:p |
Coffin-Lowry syndrome is a condition that affects many parts of the body. The |
xd |
X-linked dominant |
RPS6KA3 |
https://ghr.nlm.nih.gov/gene/RPS6KA3 |
CLS |
db |
key |
2016-02 |
2017-12-29 |
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Coffin-Lowry症候群 |
|
the disorder affects 1 in 40,000 to 50,000 people. |
signs and symptoms are usually more severe in males than in females, although |
Mental retardation with osteocartilaginous abnormalities |
GTR |
C0265252 |
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the features of this disorder range from very mild to severe in affected women. |
db |
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html:p |
Males with Coffin-Lowry syndrome typically have severe to profound intellectual |
GeneReviews |
cls |
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disability and delayed development. Affected women may be cognitively normal, or |
db |
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they may have intellectual disability ranging from mild to profound. Beginning |
MeSH |
D038921 |
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in childhood or adolescence, some people with this condition experience brief |
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episodes of collapse when excited or startled by a loud noise. These attacks |
OMIM |
303600 |
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are called stimulus-induced drop episodes (SIDEs). |
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db |
key |
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html:p |
Most affected males and some affected females have distinctive facial features |
Orphanet |
192 |
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including a prominent forehead, widely spaced and downward-slanting eyes, a |
db |
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short nose with a wide tip, and a wide mouth with full lips. These features |
SNOMED CT |
15182000 |
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become more pronounced with age. Soft hands with short, tapered fingers are |
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also characteristic of Coffin-Lowry syndrome. Additional features of this |
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condition include short stature, an unusually small head (microcephaly), |
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progressive abnormal curvature of the spine (kyphoscoliosis), and other skeletal |
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abnormalities. |
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related-gene-list |
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Coffin-Siris syndrome |
https://ghr.nlm.nih.gov/condition/coffin-siris-syndrome |
Coffin-Siris syndrome is a rare condition that is diagnosed in females more |
html:p |
Coffin-Siris syndrome is a condition that affects several body systems. Although |
ad |
autosomal dominant |
ARID1A |
https://ghr.nlm.nih.gov/gene/ARID1A |
dwarfism-onychodysplasia |
db |
key |
2013-05 |
2017-12-29 |
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Coffin-Siris症候群 |
|
frequently than in males. Approximately 140 cases have been reported in the |
there are many variable signs and symptoms, hallmarks of this condition include |
related-gene |
gene-symbol |
ghr-page |
fifth digit syndrome |
GTR |
C0265338 |
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medical literature. |
developmental disability, abnormalities of the fifth (pinky) fingers or toes, |
ARID1B |
https://ghr.nlm.nih.gov/gene/ARID1B |
mental retardation with hypoplastic fifth fingernails and toenails |
db |
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and characteristic facial features. |
related-gene |
gene-symbol |
ghr-page |
short stature-onychodysplasia |
GeneReviews |
coffin-siris |
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html:p |
Most affected individuals have mild to severe intellectual disability or delayed |
SMARCA4 |
https://ghr.nlm.nih.gov/gene/SMARCA4 |
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development of speech and motor skills such as sitting and walking. Another |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D008607 |
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feature of Coffin-Siris syndrome is underdevelopment (hypoplasia) of the tips of |
SMARCB1 |
https://ghr.nlm.nih.gov/gene/SMARCB1 |
db |
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the fingers or toes, or hypoplasia or absence of the nails. These abnormalities |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
135900 |
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are most common on the fifth fingers or toes. In addition, most affected |
SMARCE1 |
https://ghr.nlm.nih.gov/gene/SMARCE1 |
db |
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individuals have facial features described as coarse. These typically include a |
Orphanet |
1465 |
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wide nose with a flat nasal bridge, a wide mouth with thick lips, and thick |
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eyebrows and eyelashes. Affected individuals can have excess hair on other parts |
SNOMED CT |
10007009 |
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of the face and body (hirsutism), but scalp hair is often sparse. There is a |
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range of facial features seen in people with Coffin-Siris syndrome, and not all |
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affected individuals have the typical features. In addition, people with this |
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condition may have an abnormally small head (microcephaly). |
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html:p |
Additionally, some infants and children with Coffin-Siris syndrome have frequent |
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respiratory infections, difficulty feeding, and an inability to gain weight at |
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the expected rate (failure to thrive). Other signs and symptoms that may occur |
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in people with this condition include short stature, low muscle tone |
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(hypotonia), and abnormally loose (lax) joints. Abnormalities of the eyes, |
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brain, heart, and kidneys may also be present. |
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inheritance-pattern-list |
related-gene-list |
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COG5-congenital disorder of glycosylation |
https://ghr.nlm.nih.gov/condition/cog5-congenital-disorder-of-glycosylation |
COG5-CDG is a very rare disorder; fewer than 10 cases have been described |
html:p |
COG5-congenital disorder of glycosylation (COG5-CDG, formerly known as |
autosomal recessive |
ghr-page |
carbohydrate deficient glycoprotein syndrome type IIi |
db-key |
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2014-08 |
2017-12-29 |
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(Congenital) |
in the medical literature. |
congenital disorder of glycosylation type IIi) is an inherited condition that causes neurological |
https://ghr.nlm.nih.gov/gene/COG5 |
CDG IIi |
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GTR |
C3150876 |
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problems and other abnormalities. The pattern and severity of this disorder's |
CDG2I |
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signs and symptoms vary among affected individuals. |
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CDGIIi |
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GeneReviews |
cdg |
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html:p |
Individuals with COG5-CDG typically develop signs and symptoms of the condition |
COG5-CDG |
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during infancy. These individuals often have weak muscle tone (hypotonia) and delayed |
congenital disorder of glycosylation type IIi |
MeSH |
D018981 |
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development. Other neurological features include moderate to severe intellectual disability, |
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poor coordination, and difficulty walking. Some affected individuals never learn to |
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OMIM |
613612 |
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speak. Other features of COG5-CDG include short stature, an unusually small head size (microcephaly), |
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and distinctive facial features, which can include ears that are set low |
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Orphanet |
263487 |
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and rotated backward, a short neck with a low hairline in the back, and a prominent nose. |
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Less commonly, affected individuals can have hearing loss caused by changes in the inner ear |
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SNOMED CT |
721100009 |
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(sensorineural hearing loss), vision impairment, damage to the nerves that |
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control bladder function (a condition called neurogenic bladder), |
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liver disease, and joint deformities (contractures). |
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related-gene-list |
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Cohen syndrome |
https://ghr.nlm.nih.gov/condition/cohen-syndrome |
The exact incidence of Cohen syndrome is unknown. It has been diagnosed in |
html:p |
Cohen syndrome is an inherited disorder that affects many parts of the body and |
autosomal recessive |
VPS13B |
https://ghr.nlm.nih.gov/gene/VPS13B |
hypotonia, obesity, and prominent incisors |
db |
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2017-06 |
2017-12-29 |
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科恩綜合症 |
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fewer than 1,000 people worldwide. More cases are likely undiagnosed. |
is characterized by developmental delay, intellectual disability, small head |
Norio syndrome |
GTR |
C0265223 |
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size (microcephaly), and weak muscle tone (hypotonia). Other features common in |
obesity-hypotonia syndrome |
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this condition include worsening nearsightedness (myopia), breakdown |
Pepper syndrome |
GeneReviews |
cohen |
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(degeneration) of the light-sensitive tissue at the back of the eye (retinal |
prominent incisors-obesity-hypotonia syndrome |
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dystrophy), an unusually large range of joint movement (hypermobility), and |
MeSH |
D000015 |
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distinctive facial features. These facial features typically include thick hair |
db |
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and eyebrows, long eyelashes, unusually-shaped eyes (down-slanting and |
MeSH |
D002658 |
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wave-shaped), a bulbous nasal tip, a smooth or shortened area between the nose |
db |
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and the upper lip (philtrum), and prominent upper central teeth. The combination |
OMIM |
216550 |
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of the last two facial features results in an open mouth. |
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html:p |
The features of Cohen syndrome vary widely among affected individuals. |
Orphanet |
193 |
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Additional signs and symptoms in some individuals with this disorder include low |
db |
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levels of white blood cells (neutropenia), overly friendly behavior, and |
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SNOMED CT |
56604005 |
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obesity that develops in late childhood or adolescence. When obesity is present, |
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it typically occurs around the torso, with the arms and legs remaining slender |
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(called truncal obesity). Individuals with Cohen syndrome may also have narrow |
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hands and feet, and slender fingers. |
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inheritance-pattern-list |
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COL4A1-related brain small-vessel disease |
https://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease |
COL4A1-related brain small-vessel disease is a rare condition, although the |
html:p |
COL4A1-related brain small-vessel disease is part of a group of conditions called the |
ad |
related-gene |
ghr-page |
synonym |
brain small-vessel disease with hemorrhage |
db-key |
db |
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2011-09 |
2017-12-29 |
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exact prevalence is unknown. At least 50 individuals with this condition have |
COL4A1-related disorders. The conditions in this group have a range of signs |
https://ghr.nlm.nih.gov/gene/COL4A1 |
|
GTR |
C1843512 |
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been described in the scientific literature. |
and symptoms that involve fragile blood vessels. COL4A1-related brain small-vessel |
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disease is characterized by weakening of the blood vessels in the brain. |
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GeneReviews |
col4a1-dis |
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Stroke is often the first symptom of this condition, typically occurring in mid-adulthood. |
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db-key |
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In affected individuals, stroke is usually caused by bleeding in the brain (hemorrhagic stroke) |
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MeSH |
D002543 |
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rather than a lack of blood flow in the brain (ischemic stroke), although either |
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type can occur. Individuals with this condition are at increased risk of having more than one stroke |
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OMIM |
607595 |
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in their lifetime. People with COL4A1-related brain small vessel disease also have |
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leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be |
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Orphanet |
36383 |
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seen with magnetic resonance imaging (MRI). Affected individuals may also experience seizures and migraine headaches accompanied by visual sensations known as auras. |
db-key |
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html:p |
Some people with COL4A1-related brain small-vessel disease have an eye abnormality |
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SNOMED CT |
443929000 |
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called Axenfeld-Rieger anomaly. Axenfeld-Rieger anomaly involves underdevelopment and eventual |
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tearing of the colored part of the eye (iris) and a pupil that is not in the center of the eye. |
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Other eye problems experienced by people with COL4A1-related brain |
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small-vessel disease include clouding of the lens of the eye (cataract) and the presence of |
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arteries that twist and turn abnormally within the light-sensitive tissue at the back of |
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the eye (arterial retinal tortuosity). Axenfeld-Rieger anomaly and cataract can cause impaired vision. |
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Arterial retinal tortuosity can cause episodes of bleeding within the eye following any minor trauma to the eye, |
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leading to temporary vision loss. |
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html:p |
The severity of the condition varies greatly among affected individuals. Some |
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individuals with COL4A1-related brain small-vessel disease do not have |
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any signs or symptoms of the condition. |
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related-gene-list |
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Cold-induced sweating syndrome |
https://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome |
Cold-induced sweating syndrome is a rare condition; its prevalence is |
html:p |
Cold-induced sweating syndrome is characterized by problems with regulating body |
ar |
autosomal recessive |
CLCF1 |
https://ghr.nlm.nih.gov/gene/CLCF1 |
CISS |
db |
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2012-08 |
2017-12-29 |
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unknown. The condition was first identified in the Sardinian population, but it |
temperature and other abnormalities affecting many parts of the body. In |
related-gene |
gene-symbol |
ghr-page |
CNTF receptor-related disorders |
GTR |
C1848947 |
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has since been reported in regions worldwide. |
infancy, the features of this condition are often known as Crisponi syndrome. |
CRLF1 |
https://ghr.nlm.nih.gov/gene/CRLF1 |
Crisponi syndrome |
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Researchers originally thought that cold-induced sweating syndrome and Crisponi |
Sohar-Crisponi syndrome |
GTR |
C1853198 |
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syndrome were separate disorders, but it is now widely believed that they |
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represent the same condition at different times during life. |
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GTR |
C4310742 |
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html:p |
Infants with Crisponi syndrome have unusual facial features, including a flat |
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nasal bridge, upturned nostrils, a long space between the nose and upper lip |
GTR |
CN043579 |
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(philtrum), a high arched roof of the mouth (palate), a small chin |
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(micrognathia), and low-set ears. The muscles in the lower part of the face are |
GTR |
CN169295 |
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weak, leading to severe feeding difficulties, excessive drooling, and breathing |
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problems. Other physical abnormalities associated with Crisponi syndrome include |
GeneReviews |
ciss |
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a scaly skin rash, an inability to fully extend the elbows, overlapping fingers |
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and tightly fisted hands, and malformations of the feet and toes. Affected |
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MeSH |
D000015 |
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infants startle easily and often tense their facial muscles into a grimace-like |
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expression. By six months of age, infants with Crisponi syndrome develop |
MeSH |
D005334 |
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unexplained high fevers that increase the risk of seizures and sudden death. |
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html:p |
Many of the health problems associated with Crisponi syndrome improve with time, |
OMIM |
272430 |
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and affected individuals who survive the newborn period go on to develop other |
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features of cold-induced sweating syndrome in early childhood. Within the first |
OMIM |
610313 |
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decade of life, affected individuals begin having episodes of profuse sweating |
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(hyperhidrosis) and shivering involving the face, torso, and arms. The excessive |
OMIM |
617055 |
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sweating is usually triggered by exposure to temperatures below about 65 or 70 |
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degrees Fahrenheit, but it can also be triggered by nervousness or eating sugary |
Orphanet |
1545 |
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foods. Paradoxically, affected individuals tend not to sweat in warmer |
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conditions, instead becoming flushed and overheated in hot environments. |
Orphanet |
157820 |
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html:p |
Adolescents with cold-induced sweating syndrome typically develop abnormal |
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side-to-side and front-to-back curvature of the spine (scoliosis and kyphosis, |
SNOMED CT |
702363009 |
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often called kyphoscoliosis when they occur together). Although infants may |
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develop life-threatening fevers, affected individuals who survive infancy have a |
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normal life expectancy. |
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related-gene-list |
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Cole disease |
https://ghr.nlm.nih.gov/condition/cole-disease |
Cole disease is a rare disease; its prevalence is unknown. Only a few |
html:p |
Cole disease is a disorder that affects the skin. People with this disorder have |
ad |
autosomal dominant |
ENPP1 |
https://ghr.nlm.nih.gov/gene/ENPP1 |
guttate hypopigmentation and punctate palmoplantar keratoderma with or without |
db |
key |
2015-01 |
2017-12-29 |
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affected families have been described in the medical literature. |
areas of unusually light-colored skin (hypopigmentation), typically on the arms |
ectopic calcification |
GTR |
C3809781 |
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and legs, and spots of thickened skin on the palms of the hands and the soles |
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of the feet (punctate palmoplantar keratoderma). These skin features are present |
ICD-10-CM |
L85.2 |
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at birth or develop in the first year of life. |
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html:p |
In some cases, individuals with Cole disease develop abnormal accumulations of |
MeSH |
D007645 |
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the mineral calcium (calcifications) in the tendons, which can cause pain during |
db |
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movement. Calcifications may also occur in the skin or breast tissue. |
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OMIM |
615522 |
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db |
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related-gene-list |
|
SNOMED CT |
711154007 |
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Collagen VI-related myopathy |
https://ghr.nlm.nih.gov/condition/collagen-vi-related-myopathy |
Collagen VI-related myopathy is rare. Bethlem myopathy is estimated to |
html:p |
Collagen VI-related myopathy is a group of disorders that affect skeletal |
ad |
autosomal dominant |
COL6A1 |
https://ghr.nlm.nih.gov/gene/COL6A1 |
collagen type VI-related disorders |
db |
key |
2015-10 |
2017-12-29 |
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occur in 0.77 per 100,000 individuals, and Ullrich congenital muscular dystrophy (先天性肌失養症) |
muscles (which are the muscles used for movement) and connective tissue (which |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
collagen VI-related myopathies |
GTR |
C0410179 |
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is estimated to occur in 0.13 per 100,000 individuals. Only a few cases of the |
provides strength and flexibility to the skin, joints, and other structures |
ar |
autosomal recessive |
COL6A2 |
https://ghr.nlm.nih.gov/gene/COL6A2 |
ColVI myopathies |
db |
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intermediate form have been described in the scientific literature. |
throughout the body). Most affected individuals have muscle weakness and joint |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1834674 |
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deformities called contractures that restrict movement of the affected joints |
COL6A3 |
https://ghr.nlm.nih.gov/gene/COL6A3 |
db |
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and worsen over time. Researchers have described several forms of collagen |
GTR |
CN117976 |
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VI-related myopathy, which range in severity: Bethlem myopathy is the mildest, |
db |
key |
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an intermediate form is moderate in severity, and Ullrich congenital muscular |
GTR |
CN230143 |
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dystrophy is the most severe. |
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db |
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html:p |
People with Bethlem myopathy usually have loose joints (joint laxity) and weak |
GeneReviews |
bethlem |
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muscle tone (hypotonia) in infancy, but they develop contractures during |
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db |
key |
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childhood, typically in their fingers, wrists, elbows, and ankles. Muscle |
|
MeSH |
D009136 |
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weakness can begin at any age but often appears in childhood to early adulthood. |
db |
key |
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The muscle weakness is slowly progressive, with about two-thirds of affected |
OMIM |
158810 |
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individuals over age 50 needing walking assistance. Older individuals may |
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develop weakness in respiratory muscles, which can cause breathing problems. |
OMIM |
254090 |
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Some people with this mild form of collagen VI-related myopathy have skin |
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abnormalities, including small bumps called follicular hyperkeratosis on the |
Orphanet |
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arms and legs; soft, velvety skin on the palms of the hands and soles of the |
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feet; and abnormal wound healing that creates shallow scars. |
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75840 |
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The intermediate form of collagen VI-related myopathy is characterized by muscle |
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weakness that begins in infancy. Affected children are able to walk, although |
SNOMED CT |
193222002 |
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walking becomes increasingly difficult starting in early adulthood. They develop |
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contractures in the ankles, elbows, knees, and spine in childhood. In some |
SNOMED CT |
240062007 |
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affected people, the respiratory muscles are weakened, requiring people to use a |
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machine to help them breathe (mechanical ventilation), particularly during |
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sleep. |
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People with Ullrich congenital muscular dystrophy (先天性肌失養症) have severe muscle weakness |
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beginning soon after birth. Some affected individuals are never able to walk and |
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others can walk only with support. Those who can walk often lose the ability, |
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usually in adolescence. Individuals with Ullrich congenital muscular dystrophy |
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develop contractures in their neck, hips, and knees, which further impair |
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movement. There may be joint laxity in the fingers, wrists, toes, ankles, and |
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other joints. Some affected individuals need continuous mechanical ventilation |
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to help them breathe. As in Bethlem myopathy, some people with Ullrich |
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congenital muscular dystrophy have follicular hyperkeratosis; soft, velvety skin |
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on the palms and soles; and abnormal wound healing. |
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html:p |
Individuals with collagen VI-related myopathy often have signs and symptoms of |
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multiple forms of this condition, so it can be difficult to assign a specific |
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diagnosis. The overlap in disease features, in addition to their common cause, |
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is why these once separate conditions are now considered part of the same |
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disease spectrum. |
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related-gene-list |
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Coloboma |
https://ghr.nlm.nih.gov/condition/coloboma |
Coloboma occurs in approximately 1 in 10,000 people. Because coloboma does |
html:p |
Coloboma is an eye abnormality that occurs before birth. Colobomas are missing |
ad |
autosomal dominant |
GDF3 |
https://ghr.nlm.nih.gov/gene/GDF3 |
congenital ocular coloboma |
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2011-11 |
2017-12-29 |
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(Eye) |
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not always affect vision or the outward appearance of the eye, some people with |
pieces of tissue in structures that form the eye. They may appear as notches or |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
microphthalmia, isolated, with coloboma |
GTR |
C0009363 |
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this condition are likely undiagnosed. |
gaps in one of several parts of the eye, including the colored part of the eye |
ar |
autosomal recessive |
GDF6 |
https://ghr.nlm.nih.gov/gene/GDF6 |
ocular coloboma |
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called the iris; the retina, which is the specialized light-sensitive tissue |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
uveoretinal coloboma |
GeneReviews |
anophthalmia-ov |
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that lines the back of the eye; the blood vessel layer under the retina called |
n |
not inherited |
MAF |
https://ghr.nlm.nih.gov/gene/MAF |
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the choroid; or the optic nerves, which carry information from the eyes to the |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
H47.31 |
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brain. |
xd |
X-linked dominant |
OTX2 |
https://ghr.nlm.nih.gov/gene/OTX2 |
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html:p |
Colobomas may be present in one or both eyes and, depending on their size and |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
H47.311 |
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location, can affect a person's vision. Colobomas affecting the iris, which |
xr |
X-linked recessive |
PAX6 |
https://ghr.nlm.nih.gov/gene/PAX6 |
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result in a "keyhole" appearance of the pupil, generally do not lead to vision |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
H47.312 |
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loss. Colobomas involving the retina result in vision loss in specific parts of |
SHH |
https://ghr.nlm.nih.gov/gene/SHH |
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the visual field, generally the upper part. Large retinal colobomas or those |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
H47.313 |
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affecting the optic nerve can cause low vision, which means vision loss that |
VSX2 |
https://ghr.nlm.nih.gov/gene/VSX2 |
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cannot be completely corrected with glasses or contact lenses. |
|
ICD-10-CM |
H47.319 |
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html:p |
Some people with coloboma also have a condition called microphthalmia. In this |
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condition, one or both eyeballs are abnormally small. In some affected |
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ICD-10-CM |
Q12.2 |
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individuals, the eyeball may appear to be completely missing; however, even in |
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these cases some remaining eye tissue is generally present. Such severe |
ICD-10-CM |
Q13.0 |
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microphthalmia should be distinguished from another condition called |
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anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia |
MeSH |
D003103 |
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and severe microphthalmia are often used interchangeably. Microphthalmia may or |
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may not result in significant vision loss. |
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OMIM |
120200 |
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html:p |
People with coloboma may also have other eye abnormalities, including clouding |
db |
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of the lens of the eye (cataract), increased pressure inside the eye (glaucoma) |
OMIM |
216820 |
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that can damage the optic nerve, vision problems such as nearsightedness |
db |
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(myopia), involuntary back-and-forth eye movements (nystagmus), or separation of |
SNOMED CT |
93390002 |
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the retina from the back of the eye (retinal detachment). |
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html:p |
Some individuals have coloboma as part of a syndrome that affects other organs |
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and tissues in the body. These forms of the condition are described as |
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syndromic. When coloboma occurs by itself, it is described as nonsyndromic or |
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isolated. |
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html:p |
Colobomas involving the eyeball should be distinguished from gaps that occur in |
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the eyelids. While these eyelid gaps are also called colobomas, they arise from |
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abnormalities in different structures during early development. |
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related-gene-list |
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Color vision deficiency |
https://ghr.nlm.nih.gov/condition/color-vision-deficiency |
Red-green color vision defects are the most common form of color vision |
html:p |
Color vision deficiency (sometimes called color blindness) represents a group of |
ad |
autosomal dominant |
OPN1LW |
https://ghr.nlm.nih.gov/gene/OPN1LW |
color blindness |
db |
key |
2015-01 |
2017-12-29 |
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deficiency. This condition affects males much more often than females. Among |
conditions that affect the perception of color. Red-green color vision defects |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
color vision defects |
GTR |
C0155015 |
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populations with Northern European ancestry, it occurs in about 1 in 12 males |
are the most common form of color vision deficiency. Affected individuals have |
xr |
X-linked recessive |
OPN1MW |
https://ghr.nlm.nih.gov/gene/OPN1MW |
defective color vision |
db |
key |
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and 1 in 200 females. Red-green color vision defects have a lower incidence in |
trouble distinguishing between some shades of red, yellow, and green. |
related-gene |
gene-symbol |
ghr-page |
vision defect, color |
GTR |
C0155016 |
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almost all other populations studied.Blue-yellow color vision defects affect |
Blue-yellow color vision defects (also called tritan defects), which are rarer, |
OPN1SW |
https://ghr.nlm.nih.gov/gene/OPN1SW |
db |
key |
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males and females equally. This condition occurs in fewer than 1 in 10,000 |
cause problems with differentiating shades of blue and green and cause |
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GTR |
C0155017 |
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people worldwide.Blue cone monochromacy is rarer than the other forms of color |
difficulty distinguishing dark blue from black. These two forms of color vision |
db |
key |
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vision deficiency, affecting about 1 in 100,000 people worldwide. Like red-green |
deficiency disrupt color perception but do not affect the sharpness of vision |
GTR |
C0339537 |
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color vision defects, blue cone monochromacy affects males much more often than |
(visual acuity). |
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db |
key |
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females. |
html:p |
A less common and more severe form of color vision deficiency called blue cone |
GTR |
CN043660 |
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monochromacy causes very poor visual acuity and severely reduced color vision. |
db |
key |
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Affected individuals have additional vision problems, which can include |
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ICD-10-CM |
H53.5 |
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increased sensitivity to light (photophobia), involuntary back-and-forth eye |
db |
key |
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movements (nystagmus), and nearsightedness (myopia). Blue cone monochromacy is |
ICD-10-CM |
H53.50 |
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sometimes considered to be a form of achromatopsia, a disorder characterized by |
db |
key |
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a partial or total lack of color vision with other vision problems. |
|
ICD-10-CM |
H53.51 |
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db |
key |
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ICD-10-CM |
H53.52 |
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db |
key |
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ICD-10-CM |
H53.53 |
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db |
key |
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ICD-10-CM |
H53.54 |
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db |
key |
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ICD-10-CM |
H53.55 |
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db |
key |
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ICD-10-CM |
H53.59 |
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db |
key |
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MeSH |
D003117 |
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db |
key |
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OMIM |
190900 |
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db |
key |
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OMIM |
303700 |
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db |
key |
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OMIM |
303800 |
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db |
key |
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OMIM |
303900 |
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db |
key |
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Orphanet |
16 |
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db |
key |
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Orphanet |
319691 |
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db |
key |
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Orphanet |
319698 |
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db |
key |
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SNOMED CT |
193683001 |
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db |
key |
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SNOMED CT |
24704003 |
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db |
key |
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SNOMED CT |
367469000 |
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db |
key |
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SNOMED CT |
51445007 |
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db |
key |
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SNOMED CT |
51886007 |
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related-gene-list |
|
SNOMED CT |
77479002 |
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Combined malonic and methylmalonic aciduria |
https://ghr.nlm.nih.gov/condition/combined-malonic-and-methylmalonic-aciduria |
CMAMMA appears to be a rare disease. Approximately a dozen cases have been |
html:p |
Combined malonic and methylmalonic aciduria (CMAMMA) is a condition |
ar |
autosomal recessive |
ACSF3 |
https://ghr.nlm.nih.gov/gene/ACSF3 |
CMAMMA |
db |
key |
2013-01 |
2017-12-29 |
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reported in the scientific literature. |
characterized by high levels of certain chemicals, known as malonic acid and |
GTR |
C3280314 |
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methylmalonic acid, in the body. A distinguishing feature of this condition is |
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higher levels of methylmalonic acid than malonic acid in the urine, although |
MeSH |
D008661 |
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both are elevated. |
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html:p |
The signs and symptoms of CMAMMA can begin in childhood. In some children, the |
OMIM |
614265 |
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buildup of acids causes the blood to become too acidic (ketoacidosis), which can |
db |
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damage the body's tissues and organs. Other signs and symptoms may include |
Orphanet |
289504 |
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involuntary muscle tensing (dystonia), weak muscle tone (hypotonia), |
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developmental delay, an inability to grow and gain weight at the expected rate |
SNOMED CT |
702365002 |
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(failure to thrive), low blood sugar (hypoglycemia), and coma. Some affected |
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children have an unusually small head size (microcephaly). |
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html:p |
Other people with CMAMMA do not develop signs and symptoms until adulthood. |
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These individuals usually have neurological problems, such as seizures, loss of |
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memory, a decline in thinking ability, or psychiatric diseases. |
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related-gene-list |
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Combined oxidative phosphorylation deficiency 1 |
https://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency- |
Combined oxidative phosphorylation deficiency 1 is likely a rare disorder, |
html:p |
Combined oxidative phosphorylation deficiency 1 is a severe condition that |
ar |
autosomal recessive |
GFM1 |
https://ghr.nlm.nih.gov/gene/GFM1 |
COXPD1 |
db |
key |
2017-09 |
2017-12-29 |
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1 |
although its prevalence is unknown. At least 12 affected individuals have been |
primarily impairs neurological and liver function. |
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early fatal progressive hepatoencephalopathy |
GTR |
C1836797 |
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described in the scientific literature. |
html:p |
Most people with combined oxidative phosphorylation deficiency 1 have severe |
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 |
db |
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brain dysfunction (encephalopathy) that worsens over time; they also have |
MeSH |
D028361 |
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difficulty growing and gaining weight at the expected rate (failure to thrive). |
db |
key |
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In some cases, affected individuals have abnormal muscle tone (increased or |
OMIM |
609060 |
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decreased), developmental delay, seizures, loss of sensation in the limbs |
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(peripheral neuropathy), and an unusually small head (microcephaly). Liver |
Orphanet |
137681 |
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disease is common in people with combined oxidative phosphorylation deficiency |
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1, with individuals quickly developing liver failure. Individuals with this |
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condition also usually have a potentially life-threatening buildup of a chemical |
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called lactic acid in the body (lactic acidosis). |
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html:p |
The neurological features of combined oxidative phosphorylation deficiency 1 are |
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largely due to brain abnormalities that include thinning of the tissue that |
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connects the two halves of the brain (corpus callosum hypoplasia) and loss of |
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brain tissue called white matter (leukodystrophy), particularly in an area of |
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the brain called the basal ganglia, which normally helps control movement. |
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html:p |
Individuals with combined oxidative phosphorylation deficiency 1 usually do not |
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survive past early childhood, although some people live longer. |
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related-gene-list |
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Combined pituitary hormone deficiency |
https://ghr.nlm.nih.gov/condition/combined-pituitary-hormone-deficiency |
The prevalence of combined pituitary hormone deficiency is estimated to be |
html:p |
Combined pituitary hormone deficiency is a condition that causes a shortage |
ad |
autosomal dominant |
GLI2 |
https://ghr.nlm.nih.gov/gene/GLI2 |
CPHD |
db |
key |
2010-08 |
2017-12-29 |
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1 in 8,000 individuals worldwide. |
(deficiency) of several hormones produced by the pituitary gland, which is |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
panhypopituitarism |
GTR |
C0878683 |
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located at the base of the brain. A lack of these hormones may affect the |
ar |
autosomal recessive |
HESX1 |
https://ghr.nlm.nih.gov/gene/HESX1 |
db |
key |
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development of many parts of the body. The first signs of this condition include |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1857330 |
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a failure to grow at the expected rate and short stature that usually becomes |
LHX3 |
https://ghr.nlm.nih.gov/gene/LHX3 |
db |
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apparent in early childhood. |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2678408 |
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html:p |
People with combined pituitary hormone deficiency may have hypothyroidism, which |
LHX4 |
https://ghr.nlm.nih.gov/gene/LHX4 |
db |
key |
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is underactivity of the butterfly-shaped thyroid gland in the lower neck. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2750026 |
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Hypothyroidism can cause many symptoms, including weight gain and fatigue. Other |
OTX2 |
https://ghr.nlm.nih.gov/gene/OTX2 |
db |
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features of combined pituitary hormone deficiency include delayed or absent |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2751608 |
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puberty and lack the ability to have biological children (infertility). The |
POU1F1 |
https://ghr.nlm.nih.gov/gene/POU1F1 |
db |
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condition can also be associated with a deficiency of the hormone cortisol. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3151440 |
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Cortisol deficiency can impair the body's immune system, causing individuals to |
PROKR2 |
https://ghr.nlm.nih.gov/gene/PROKR2 |
db |
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be more susceptible to infection. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
CN206774 |
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html:p |
Rarely, people with combined pituitary hormone deficiency have intellectual |
PROP1 |
https://ghr.nlm.nih.gov/gene/PROP1 |
db |
key |
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disability; a short, stiff neck; or underdeveloped optic nerves, which carry |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
prop1 |
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visual information from the eyes to the brain. |
SOX2 |
https://ghr.nlm.nih.gov/gene/SOX2 |
db |
key |
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ICD-10-CM |
E23.0 |
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db |
key |
|
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|
|
|
|
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|
|
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|
|
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|
|
MeSH |
D007018 |
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
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|
db |
key |
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|
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|
|
|
|
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|
|
|
|
|
|
|
|
|
|
OMIM |
221750 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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db |
key |
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|
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|
|
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|
|
|
|
|
|
OMIM |
262600 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
db |
key |
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|
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|
|
OMIM |
262700 |
|
|
|
|
|
|
|
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|
|
|
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|
db |
key |
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|
|
OMIM |
613038 |
|
|
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|
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db |
key |
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|
SNOMED CT |
190470005 |
|
|
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db |
key |
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|
SNOMED CT |
237682009 |
|
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db |
key |
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|
SNOMED CT |
237683004 |
|
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db |
key |
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|
SNOMED CT |
32390006 |
|
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db |
key |
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|
SNOMED CT |
367460001 |
|
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db |
key |
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|
SNOMED CT |
71003000 |
|
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db |
key |
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|
related-gene-list |
|
SNOMED CT |
91187007 |
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|
Common variable immune deficiency |
https://ghr.nlm.nih.gov/condition/common-variable-immune-deficiency |
CVID is estimated to affect 1 in 25,000 to 1 in 50,000 people worldwide, |
html:p |
Common variable immune deficiency (CVID) is a disorder that impairs the immune |
ad |
autosomal dominant |
CD19 |
https://ghr.nlm.nih.gov/gene/CD19 |
common variable hypogammaglobulinemia |
db |
key |
2016-05 |
2017-12-29 |
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常見的變異免疫缺陷 |
although the prevalence can vary across different populations. |
system. People with CVID are highly susceptible to infection from foreign |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
common variable immunodeficiency |
GTR |
C0009447 |
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invaders such as bacteria, or more rarely, viruses and often develop recurrent |
ar |
autosomal recessive |
CD81 |
https://ghr.nlm.nih.gov/gene/CD81 |
CVID |
db |
key |
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infections, particularly in the lungs, sinuses, and ears. Pneumonia is common in |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
immunodeficiency, common variable |
GTR |
C3149378 |
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people with CVID. Over time, recurrent infections can lead to chronic lung |
u |
pattern unknown |
CR2 |
https://ghr.nlm.nih.gov/gene/CR2 |
db |
key |
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disease. Affected individuals may also experience infection or inflammation of |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3150354 |
|
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|
the gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal |
ICOS |
https://ghr.nlm.nih.gov/gene/ICOS |
db |
key |
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accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3150738 |
|
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|
enlarged spleen (splenomegaly) in some people with CVID. Immune cells can |
IKZF1 |
https://ghr.nlm.nih.gov/gene/IKZF1 |
db |
key |
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accumulate in other organs, forming small lumps called granulomas. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3150739 |
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|
html:p |
Approximately 25 percent of people with CVID have an autoimmune disorder, which |
IL21 |
https://ghr.nlm.nih.gov/gene/IL21 |
db |
key |
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occurs when the immune system malfunctions and attacks the body's tissues and |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3150740 |
|
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organs. The blood cells are most frequently affected by autoimmune attacks in |
LRBA |
https://ghr.nlm.nih.gov/gene/LRBA |
db |
key |
|
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CVID; the most commonly occurring autoimmune disorders are immune |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3150741 |
|
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|
thrombocytopenia purpura, which is an abnormal bleeding disorder caused by a |
MS4A1 |
https://ghr.nlm.nih.gov/gene/MS4A1 |
db |
key |
|
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decrease in cell fragments involved in blood clotting called platelets, and |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3542922 |
|
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autoimmune hemolytic anemia, which results in premature destruction of red blood |
NFKB1 |
https://ghr.nlm.nih.gov/gene/NFKB1 |
db |
key |
|
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cells. Other autoimmune disorders such as rheumatoid arthritis can occur. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3553512 |
|
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Individuals with CVID also have a greater than normal risk of developing certain |
NFKB2 |
https://ghr.nlm.nih.gov/gene/NFKB2 |
db |
key |
|
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|
types of cancer, including a cancer of immune system cells called non-Hodgkin |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3809928 |
|
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|
lymphoma and less frequently, stomach (gastric) cancer. |
PRKCD |
https://ghr.nlm.nih.gov/gene/PRKCD |
db |
key |
|
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|
html:p |
People with CVID may start experiencing signs and symptoms of the disorder |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3809991 |
|
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|
anytime between childhood and adulthood; most people with CVID are diagnosed in |
TNFRSF13B |
https://ghr.nlm.nih.gov/gene/TNFRSF13B |
db |
key |
|
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|
their twenties or thirties. The life expectancy of individuals with CVID varies |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C4014258 |
|
|
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|
depending on the severity and frequency of illnesses they experience. Most |
TNFRSF13C |
https://ghr.nlm.nih.gov/gene/TNFRSF13C |
db |
key |
|
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|
people with CVID live into adulthood. |
|
|
|
|
GTR |
C4225277 |
|
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|
html:p |
There are many different types of CVID that are distinguished by genetic cause. |
db |
key |
|
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People with the same type of CVID may have varying signs and symptoms. |
ICD-10-CM |
D83 |
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db |
key |
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|
ICD-10-CM |
D83.0 |
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db |
key |
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|
ICD-10-CM |
D83.8 |
|
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|
db |
key |
|
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|
|
ICD-10-CM |
D83.9 |
|
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|
db |
key |
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|
|
|
|
|
MeSH |
D017074 |
|
|
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|
|
|
|
|
|
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|
|
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db |
key |
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
240500 |
|
|
|
|
|
|
|
|
|
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|
|
|
|
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|
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|
db |
key |
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|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
OMIM |
607594 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
db |
key |
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|
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|
|
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|
|
|
|
|
|
|
|
|
|
|
OMIM |
613493 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
db |
key |
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|
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|
|
|
|
|
|
|
|
OMIM |
613494 |
|
|
|
|
|
|
|
|
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|
|
|
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|
db |
key |
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|
|
|
|
|
OMIM |
613495 |
|
|
|
|
|
|
|
|
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|
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|
db |
key |
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|
|
|
|
|
OMIM |
613496 |
|
|
|
|
|
|
|
|
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|
|
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|
db |
key |
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|
|
|
|
|
OMIM |
614699 |
|
|
|
|
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|
db |
key |
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|
|
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|
|
OMIM |
614700 |
|
|
|
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|
db |
key |
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|
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|
|
OMIM |
615559 |
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|
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|
db |
key |
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|
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|
|
OMIM |
615577 |
|
|
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|
db |
key |
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|
OMIM |
615767 |
|
|
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|
db |
key |
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|
|
OMIM |
616576 |
|
|
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|
db |
key |
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|
|
OMIM |
616873 |
|
|
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|
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|
db |
key |
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|
Orphanet |
1572 |
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db |
key |
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|
SNOMED CT |
191011000 |
|
|
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db |
key |
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|
related-gene-list |
|
SNOMED CT |
23238000 |
|
|
|
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|
Complement component 2 deficiency |
https://ghr.nlm.nih.gov/condition/complement-component-2-deficiency |
In Western countries, complement component 2 deficiency is estimated to |
html:p |
Complement component 2 deficiency is a disorder that causes the immune system to |
ar |
autosomal recessive |
C2 |
https://ghr.nlm.nih.gov/gene/C2 |
C2 deficiency |
db |
key |
2014-06 |
2017-12-29 |
|
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|
補體成分2缺乏症 |
affect 1 in 20,000 individuals; its prevalence in other areas of the world is |
malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are |
C2D |
GTR |
C3150275 |
|
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unknown. |
conditions in which the immune system is not able to protect the body |
complement 2 deficiency |
db |
key |
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|
effectively from foreign invaders such as bacteria and viruses. People with |
MeSH |
D007153 |
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complement component 2 deficiency have a significantly increased risk of |
db |
key |
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|
recurrent bacterial infections, specifically of the lungs (pneumonia), the |
|
OMIM |
217000 |
|
|
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|
membrane covering the brain and spinal cord (meningitis), and the blood |
db |
key |
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(sepsis), which may be life-threatening. These infections most commonly occur in |
Orphanet |
169147 |
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|
infancy and childhood and become less frequent in adolescence and adulthood. |
db |
key |
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|
html:p |
Complement component 2 deficiency is also associated with an increased risk of |
SNOMED CT |
234599007 |
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developing autoimmune disorders such as systemic lupus erythematosus (SLE) or |
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vasculitis. Autoimmune disorders occur when the immune system malfunctions and |
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attacks the body's tissues and organs. Between 10 and 20 percent of individuals |
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with complement component 2 deficiency develop SLE. Females with complement |
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component 2 deficiency are more likely to have SLE than affected males, but this |
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is also true of SLE in the general population. |
|
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html:p |
The severity of complement component 2 deficiency varies widely. While some |
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affected individuals experience recurrent infections and other immune system |
|
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difficulties, others do not have any health problems related to the disorder. |
|
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inheritance-pattern-list |
related-gene-list |
|
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Complement component 8 deficiency |
https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency |
Complement component 8 deficiency is a rare disorder, although its |
html:p |
Complement component 8 deficiency is a disorder that causes the immune system to |
ar |
autosomal recessive |
C8A |
synonym |
db-key |
db |
key |
2015-12 |
2017-12-29 |
|
|
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|
補體成分8缺乏症 |
prevalence is unknown. Type I occurs in several populations, particularly in |
malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are |
related-gene |
gene-symbol |
|
|
GTR |
C3151080 |
|
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|
people with Hispanic, Japanese, or African Caribbean heritage, whereas type II |
conditions in which the immune system is not able to protect the body |
C8B |
|
db-key |
db |
key |
|
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primarily occurs in people of Northern European descent. |
effectively from foreign invaders such as bacteria. People with complement |
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GTR |
C3151081 |
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component 8 deficiency have a significantly increased risk of recurrent |
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db-key |
db |
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html:i |
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ICD-10-CM |
D84.1 |
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Neisseria meningitidis |
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db-key |
db |
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MeSH |
D007153 |
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db-key |
db |
key |
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OMIM |
613789 |
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html:p |
The severity of complement component 8 deficiency varies widely. While some |
db-key |
db |
key |
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people with this condition experience one or more infections, others do not have |
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OMIM |
613790 |
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any health problems related to the disorder. |
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db-key |
db |
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html:p |
There are two types of complement component 8 deficiency, types I and II, |
|
Orphanet |
33475 |
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classified by their genetic cause. The two types have the same signs and |
db-key |
db |
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symptoms. |
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SNOMED CT |
234614005 |
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db-key |
db |
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related-gene-list |
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SNOMED CT |
234616007 |
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Complement factor I deficiency |
https://ghr.nlm.nih.gov/condition/complement-factor-i-deficiency |
Complement factor I deficiency is a rare disorder; its exact prevalence is |
html:p |
Complement factor I deficiency is a disorder that affects the immune system. |
ar |
autosomal recessive |
CFI |
https://ghr.nlm.nih.gov/gene/CFI |
C3 inactivator deficiency |
db |
key |
2010-09 |
2017-12-29 |
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補體成分1缺乏症 |
unknown. At least 38 cases have been reported in the medical literature. |
People with this condition are prone to recurrent infections, including |
complement component 3 inactivator deficiency |
GTR |
C0019250 |
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infections of the upper respiratory tract, ears, skin, and urinary tract. They |
hereditary factor I deficiency disease |
db |
key |
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may also contract more serious infections such as pneumonia, meningitis, and |
MeSH |
D007153 |
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sepsis, which may be life-threatening. |
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db |
key |
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html:p |
Some people with complement factor I deficiency have a kidney disorder called |
OMIM |
610984 |
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glomerulonephritis with isolated C3 deposits. Complement factor I deficiency can |
db |
key |
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also be associated with autoimmune disorders such as rheumatoid arthritis or |
SNOMED CT |
234621005 |
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systemic lupus erythematosus (SLE). Autoimmune disorders occur when the immune |
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system malfunctions and attacks the body's tissues and organs. |
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related-gene-list |
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Complete LCAT deficiency |
https://ghr.nlm.nih.gov/condition/complete-lcat-deficiency |
Complete LCAT deficiency is a rare disorder. Approximately 70 cases have |
html:p |
Complete LCAT deficiency is a disorder that primarily affects the eyes and |
ar |
autosomal recessive |
LCAT |
https://ghr.nlm.nih.gov/gene/LCAT |
familial LCAT deficiency |
db |
key |
2013-08 |
2017-12-29 |
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been reported in the medical literature. |
kidneys. |
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familial lecithin-cholesterol acyltransferase deficiency |
GTR |
C0023195 |
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html:p |
In complete LCAT deficiency, the clear front surface of the eyes (the corneas) |
FLD |
db |
key |
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gradually becomes cloudy. The cloudiness, which generally first appears in early |
LCAT deficiency |
MeSH |
D007863 |
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childhood, consists of small grayish dots of cholesterol (opacities) |
lecithin acyltransferase deficiency |
db |
key |
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distributed across the corneas. Cholesterol is a waxy, fat-like substance that |
lecithin:cholesterol acyltransferase deficiency |
OMIM |
245900 |
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is produced in the body and obtained from foods that come from animals; it aids |
Norum disease |
db |
key |
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in many functions of the body but can become harmful in excessive amounts. As |
Norum's disease |
Orphanet |
79293 |
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complete LCAT deficiency progresses, the corneal cloudiness worsens and can lead |
db |
key |
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to severely impaired vision. |
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SNOMED CT |
238091006 |
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html:p |
People with complete LCAT deficiency often have kidney disease that begins in |
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adolescence or early adulthood. The kidney problems get worse over time and may |
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eventually lead to kidney failure. Individuals with this disorder also usually |
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have a condition known as hemolytic anemia, in which red blood cells are broken |
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down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells |
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(anemia). Anemia can cause pale skin, weakness, fatigue, and more serious |
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complications. |
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html:p |
Other features of complete LCAT deficiency that occur in some affected |
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individuals include enlargement of the liver (hepatomegaly), spleen |
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(splenomegaly), or lymph nodes (lymphadenopathy) or an accumulation of fatty |
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deposits on the artery walls (atherosclerosis). |
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related-gene-list |
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Complete plasminogen activator inhibitor 1 deficiency |
https://ghr.nlm.nih.gov/condition/complete-plasminogen-activator-inhibitor-1-def |
Complete PAI-1 deficiency is a rare disorder; its prevalence is unknown. It |
html:p |
Complete plasminogen activator inhibitor 1 deficiency (complete PAI-1 |
ar |
autosomal recessive |
SERPINE1 |
https://ghr.nlm.nih.gov/gene/SERPINE1 |
complete PAI-1 deficiency |
db |
key |
2017-10 |
2017-12-29 |
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(Bleeding) |
iciency |
has been well studied in a large family belonging to the Old Order Amish |
deficiency) is a disorder that causes abnormal bleeding. In people with this |
congenital plasminogen activator inhibitor type 1 deficiency |
GTR |
C2750067 |
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population of eastern and southern Indiana. Additional cases in North America, |
disorder, bleeding associated with injury can be excessive and last longer than |
homozygous PAI-1 deficiency |
db |
key |
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Europe, and Asia have been described in the medical literature.Complete PAI-1 |
usual. |
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hyperfibrinolysis due to PAI1 deficiency |
GeneReviews |
pai-1-def |
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deficiency is inherited equally by both sexes, but tends to be diagnosed earlier |
html:p |
Individuals with complete PAI-1 deficiency may experience prolonged nosebleeds, |
PAI-1 deficiency |
db |
key |
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and more frequently in females because of its effects on menstruation, |
excessive bleeding after medical or dental procedures, easy bruising, and |
PAI-1D |
MeSH |
D025861 |
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pregnancy, and childbirth. |
significant bleeding into the joints or soft tissues after even a minor injury. |
PAI1 deficiency |
db |
key |
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Internal bleeding after an injury, especially bleeding around the brain |
plasminogen activator inhibitor type 1 deficiency |
OMIM |
613329 |
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(intracranial hemorrhage), can be life-threatening. Affected females may have |
plasminogen inhibitor-1 deficiency |
db |
key |
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excessive bleeding associated with menstruation (menorrhagia) and abnormal |
quantitative PAI-1 deficiency |
Orphanet |
465 |
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bleeding in pregnancy and childbirth. |
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In addition to bleeding problems, some people with complete PAI-1 deficiency |
SNOMED CT |
717407006 |
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develop scar tissue in the heart (cardiac fibrosis), which can lead to heart |
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failure. |
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related-gene-list |
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Cone-rod dystrophy |
https://ghr.nlm.nih.gov/condition/cone-rod-dystrophy |
Cone-rod dystrophy is estimated to affect 1 in 30,000 to 40,000 |
html:p |
Cone-rod dystrophy is a group of related eye disorders that causes vision loss, |
ad |
autosomal dominant |
ABCA4 |
https://ghr.nlm.nih.gov/gene/ABCA4 |
cone-rod degeneration |
db |
key |
2016-02 |
2017-12-29 |
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individuals. |
which becomes more severe over time. These disorders affect the retina, which is |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
cone-rod retinal dystrophy |
GTR |
C1423873 |
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the layer of light-sensitive tissue at the back of the eye. In people with |
ar |
autosomal recessive |
ADAM9 |
https://ghr.nlm.nih.gov/gene/ADAM9 |
CORD |
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cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
CRD |
GTR |
C1832976 |
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gradually deteriorate. |
xr |
X-linked recessive |
AIPL1 |
https://ghr.nlm.nih.gov/gene/AIPL1 |
retinal cone-rod dystrophy |
db |
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html:p |
The first signs and symptoms of cone-rod dystrophy, which often occur in |
related-gene |
gene-symbol |
ghr-page |
tapetoretinal degeneration |
GTR |
C1833564 |
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childhood, are usually decreased sharpness of vision (visual acuity) and |
C8orf37 |
https://ghr.nlm.nih.gov/gene/C8orf37 |
db |
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increased sensitivity to light (photophobia). These features are typically |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1835865 |
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followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in |
C21orf2 |
https://ghr.nlm.nih.gov/gene/C21orf2 |
db |
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the center of the visual field, and partial side (peripheral) vision loss. Over |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1844776 |
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time, affected individuals develop night blindness and a worsening of their |
CACNA1F |
https://ghr.nlm.nih.gov/gene/CACNA1F |
db |
key |
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peripheral vision, which can limit independent mobility. Decreasing visual |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1845407 |
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acuity makes reading increasingly difficult and most affected individuals are |
CACNA2D4 |
https://ghr.nlm.nih.gov/gene/CACNA2D4 |
db |
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legally blind by mid-adulthood. As the condition progresses, individuals may |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1846529 |
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develop involuntary eye movements (nystagmus). |
CDHR1 |
https://ghr.nlm.nih.gov/gene/CDHR1 |
db |
key |
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html:p |
There are more than 30 types of cone-rod dystrophy, which are distinguished by |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1854180 |
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their genetic cause and their pattern of inheritance: autosomal recessive, |
CERKL |
https://ghr.nlm.nih.gov/gene/CERKL |
db |
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autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1858806 |
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alone without any other signs and symptoms or it can occur as part of a syndrome |
CNGA3 |
https://ghr.nlm.nih.gov/gene/CNGA3 |
db |
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that affects multiple parts of the body. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1863634 |
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CNGB3 |
https://ghr.nlm.nih.gov/gene/CNGB3 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C1866293 |
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CNNM4 |
https://ghr.nlm.nih.gov/gene/CNNM4 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C2675210 |
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CRB1 |
https://ghr.nlm.nih.gov/gene/CRB1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C2750720 |
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CRX |
https://ghr.nlm.nih.gov/gene/CRX |
db |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C2751764 |
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EYS |
https://ghr.nlm.nih.gov/gene/EYS |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C3150912 |
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GUCA1A |
https://ghr.nlm.nih.gov/gene/GUCA1A |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C3281045 |
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GUCY2D |
https://ghr.nlm.nih.gov/gene/GUCY2D |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C3554610 |
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KCNV2 |
https://ghr.nlm.nih.gov/gene/KCNV2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C3809299 |
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PDE6C |
https://ghr.nlm.nih.gov/gene/PDE6C |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C4014501 |
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PITPNM3 |
https://ghr.nlm.nih.gov/gene/PITPNM3 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C4014856 |
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POC1B |
https://ghr.nlm.nih.gov/gene/POC1B |
db |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C4085590 |
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PROM1 |
https://ghr.nlm.nih.gov/gene/PROM1 |
db |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
CN074280 |
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PRPH2 |
https://ghr.nlm.nih.gov/gene/PRPH2 |
db |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
CN231743 |
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RAB28 |
https://ghr.nlm.nih.gov/gene/RAB28 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H35.52 |
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RAX2 |
https://ghr.nlm.nih.gov/gene/RAX2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D000071700 |
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RIMS1 |
https://ghr.nlm.nih.gov/gene/RIMS1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
120970 |
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RPGR |
https://ghr.nlm.nih.gov/gene/RPGR |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
300085 |
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RPGRIP1 |
https://ghr.nlm.nih.gov/gene/RPGRIP1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
300476 |
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SEMA4A |
https://ghr.nlm.nih.gov/gene/SEMA4A |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
304020 |
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TTLL5 |
https://ghr.nlm.nih.gov/gene/TTLL5 |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
600624 |
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TULP1 |
https://ghr.nlm.nih.gov/gene/TULP1 |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
600977 |
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|
UNC119 |
https://ghr.nlm.nih.gov/gene/UNC119 |
db |
key |
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|
OMIM |
601777 |
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db |
key |
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|
OMIM |
602093 |
|
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db |
key |
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|
OMIM |
603649 |
|
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db |
key |
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|
OMIM |
604116 |
|
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db |
key |
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|
OMIM |
605549 |
|
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db |
key |
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|
OMIM |
608194 |
|
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db |
key |
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|
|
OMIM |
610283 |
|
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db |
key |
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|
OMIM |
610381 |
|
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db |
key |
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|
OMIM |
612657 |
|
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db |
key |
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|
OMIM |
612775 |
|
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db |
key |
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|
OMIM |
615163 |
|
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db |
key |
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|
OMIM |
615374 |
|
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db |
key |
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OMIM |
615860 |
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db |
key |
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OMIM |
615973 |
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db |
key |
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OMIM |
616502 |
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db |
key |
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|
Orphanet |
1872 |
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db |
key |
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|
related-gene-list |
|
SNOMED CT |
80328002 |
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Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency |
https://ghr.nlm.nih.gov/condition/congenital-adrenal-hyperplasia-due-to-11-beta- |
CAH due to 11-beta-hydroxylase deficiency accounts for 5 to 8 percent of |
html:p |
Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is |
ar |
autosomal recessive |
CYP11B1 |
https://ghr.nlm.nih.gov/gene/CYP11B1 |
11 beta hydroxylase deficiency |
db |
key |
2011-03 |
2017-12-29 |
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先天性腎上腺增生症 |
hydroxylase-deficiency |
all cases of congenital adrenal hyperplasia. It is estimated that CAH due to |
one of a group of disorders (collectively called congenital adrenal hyperplasia) |
11b hydroxylase deficiency |
GTR |
C0268292 |
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|
11-beta-hydroxylase deficiency occurs in 1 in 100,000 to 200,000 newborns. This |
that affect the adrenal glands. The adrenal glands are located on top of the |
adrenal hyperplasia, hypertensive form |
db |
key |
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|
condition is more common in Moroccan Jews living in Israel, occurring in |
kidneys and produce a variety of hormones that regulate many essential functions |
deficiency of steroid 11-beta-monooxygenase |
ICD-10-CM |
E25.0 |
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approximately 1 in 5,000 to 7,000 newborns. The classic form of CAH due to |
in the body. In people with CAH due to 11-beta-hydroxylase deficiency, the |
P450C11B1 deficiency |
db |
key |
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11-beta-hydroxylase deficiency appears to be much more common than the |
adrenal glands produce excess androgens, which are male sex hormones. |
steroid 11 beta hydroxylase deficiency |
MeSH |
D000312 |
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non-classic form. |
html:p |
There are two types of CAH due to 11-beta-hydroxylase deficiency, the classic |
db |
key |
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form and the non-classic form. The classic form is the more severe of the two |
OMIM |
202010 |
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types. |
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db |
key |
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html:p |
Females with the classic form of CAH due to 11-beta-hydroxylase deficiency have |
Orphanet |
90795 |
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external genitalia that do not look clearly male or female (ambiguous |
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genitalia). However, the internal reproductive organs develop normally. Males |
SNOMED CT |
124214007 |
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and females with the classic form of this condition have early development of |
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their secondary sexual characteristics such as growth of facial and pubic hair, |
SNOMED CT |
237751000 |
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deepening of the voice, appearance of acne, and onset of a growth spurt. The |
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early growth spurt can prevent growth later in adolescence and lead to short |
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stature in adulthood. In addition, approximately two-thirds of individuals with |
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the classic form of CAH due to 11-beta-hydroxylase deficiency have high blood |
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pressure (hypertension). Hypertension typically develops within the first year |
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of life. |
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html:p |
Females with the non-classic form of CAH due to 11-beta-hydroxylase deficiency |
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have normal female genitalia. As affected females get older, they may develop |
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excessive body hair growth (hirsutism) and irregular menstruation. Males with |
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the non-classic form of this condition do not typically have any signs or |
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symptoms except for short stature. Hypertension is not a feature of the |
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non-classic form of CAH due to 11-beta-hydroxylase deficiency. |
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related-gene-list |
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Congenital afibrinogenemia |
https://ghr.nlm.nih.gov/condition/congenital-afibrinogenemia |
Congenital afibrinogenemia is a rare condition that occurs in approximately |
html:p |
Congenital afibrinogenemia is a bleeding disorder caused by impairment of the |
ar |
autosomal recessive |
FGA |
https://ghr.nlm.nih.gov/gene/FGA |
afibrinogenemia |
db |
key |
2014-09 |
2017-12-29 |
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先天性纖維蛋白原血症 |
1 in 1 million newborns. |
blood clotting process. Normally, blood clots protect the body after an injury |
related-gene |
gene-symbol |
ghr-page |
familial afibrinogenemia |
GTR |
C0019250 |
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(Bleeding) |
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by sealing off damaged blood vessels and preventing further blood loss. However, |
FGB |
https://ghr.nlm.nih.gov/gene/FGB |
db |
key |
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bleeding is uncontrolled in people with congenital afibrinogenemia. Newborns |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D000347 |
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with this condition often experience prolonged bleeding from the umbilical cord |
FGG |
https://ghr.nlm.nih.gov/gene/FGG |
db |
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stump after birth. Nosebleeds (epistaxis) and bleeding from the gums or tongue |
OMIM |
202400 |
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are common and can occur after minor trauma or in the absence of injury |
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(spontaneous bleeding). Some affected individuals experience bleeding into the |
Orphanet |
98880 |
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spaces between joints (hemarthrosis) or the muscles (hematoma). Rarely, bleeding |
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in the brain or other internal organs occurs, which can be fatal. Women with |
SNOMED CT |
154818001 |
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congenital afibrinogenemia can have abnormally heavy menstrual bleeding |
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(menorrhagia). Without proper treatment, women with this disorder may have |
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difficulty carrying a pregnancy to term, resulting in repeated miscarriages. |
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related-gene-list |
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Congenital bilateral absence of the vas deferens |
https://ghr.nlm.nih.gov/condition/congenital-bilateral-absence-of-the-vas-defere |
This condition is responsible for 1 percent to 2 percent of all infertility |
html:p |
Congenital bilateral absence of the vas deferens occurs in males when the tubes |
ar |
autosomal recessive |
CFTR |
https://ghr.nlm.nih.gov/gene/CFTR |
Absence of vas deferens |
db |
key |
2008-01 |
2017-12-29 |
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ns |
in men. |
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that carry sperm out of the testes (the vas deferens) fail to develop properly. |
Absent vasa |
GTR |
C0403814 |
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Although the testes usually develop and function normally, sperm cannot be |
CAVD |
db |
key |
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transported through the vas deferens to become part of semen. As a result, men |
CBAVD |
GeneReviews |
cf |
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with this condition are unable to father children (infertile) unless they use |
Congenital absence of vas deferens |
db |
key |
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assisted reproductive technologies. This condition has not been reported to |
Congenital aplasia of vas deferens |
ICD-10-CM |
Q55.3 |
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affect sex drive or sexual performance. |
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congenital bilateral absence of vas deferens |
db |
key |
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html:p |
This condition can occur alone or as a sign of cystic fibrosis, an inherited |
MeSH |
D052801 |
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disease of the mucus glands. Cystic fibrosis causes progressive damage to the |
db |
key |
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respiratory system and chronic digestive system problems. Many men with |
OMIM |
277180 |
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congenital bilateral absence of the vas deferens do not have the other |
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key |
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characteristic features of cystic fibrosis; however, some men with this |
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Orphanet |
48 |
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condition may experience mild respiratory or digestive problems. |
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SNOMED CT |
275416002 |
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db |
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related-gene-list |
|
SNOMED CT |
5286009 |
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Congenital bile acid synthesis defect type 1 |
https://ghr.nlm.nih.gov/condition/congenital-bile-acid-synthesis-defect-type-1 |
The prevalence of congenital bile acid synthesis defect type 1 is unknown; |
html:p |
Congenital bile acid synthesis defect type 1 is a disorder characterized by |
ar |
autosomal recessive |
HSD3B7 |
https://ghr.nlm.nih.gov/gene/HSD3B7 |
3beta-HSDH deficiency |
db |
key |
2015-04 |
2017-12-29 |
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先天性胆酸合成障碍 |
however, it is the most common of all the congenital defects of bile acid |
cholestasis, a condition that impairs the production and release of a digestive |
3beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency |
GTR |
C1843116 |
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Inborn Errors of Bile Acid Synthesis |
synthesis. Together, these conditions are thought to have a prevalence of 1 to 9 |
fluid called bile from liver cells. Bile is used during digestion to absorb fats |
3beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency |
db |
key |
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per million people. |
and fat-soluble vitamins, such as vitamins A, D, E, and K. People with |
CBAS1 |
MeSH |
D002779 |
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congenital bile acid synthesis defect type 1 cannot produce (synthesize) bile |
db |
key |
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acids, which are a component of bile that stimulate bile flow and help it absorb |
OMIM |
607765 |
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fats and fat-soluble vitamins. As a result, an abnormal form of bile is |
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key |
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produced. |
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Orphanet |
79168 |
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html:p |
The signs and symptoms of congenital bile acid synthesis defect type 1 often |
db |
key |
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develop during the first weeks of life, but they can begin anytime from infancy |
Orphanet |
79301 |
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into adulthood. Affected infants often have a failure to gain weight and grow at |
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the expected rate (failure to thrive) and yellowing of the skin and eyes |
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SNOMED CT |
235915002 |
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(jaundice) due to impaired bile flow and a buildup of partially formed bile. |
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Excess fat in the feces (steatorrhea) is an additional feature of congenital |
SNOMED CT |
238033007 |
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bile acid synthesis defect type 1. As the condition progresses, affected |
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individuals can develop liver abnormalities including an enlarged liver |
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(hepatomegaly), inflammation, or chronic liver disease (cirrhosis). The spleen |
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may also become enlarged (splenomegaly). The inability to absorb certain |
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fat-soluble vitamins (vitamin D in particular) can result in softening and |
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weakening of the bones (rickets) in some individuals. |
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html:p |
If left untreated, congenital bile acid synthesis defect type 1 often leads to |
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cirrhosis and death in childhood. |
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related-gene-list |
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Congenital bile acid synthesis defect type 2 |
https://ghr.nlm.nih.gov/condition/congenital-bile-acid-synthesis-defect-type-2 |
The prevalence of congenital bile acid synthesis defect type 2 is unknown. |
html:p |
Congenital bile acid synthesis defect type 2 is a disorder characterized by |
ar |
autosomal recessive |
AKR1D1 |
https://ghr.nlm.nih.gov/gene/AKR1D1 |
CBAS2 |
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key |
2015-04 |
2017-12-29 |
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先天性胆酸合成障碍 |
Together, all congenital defects of bile acid synthesis are thought to have a |
cholestasis, a condition that impairs the production and release of a digestive |
cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency |
GTR |
C1856127 |
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prevalence of 1 to 9 per million people. |
fluid called bile from liver cells. Bile is used during digestion to absorb fats |
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and fat-soluble vitamins, such as vitamins A, D, E, and K. People with |
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MeSH |
D002779 |
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congenital bile acid synthesis defect type 2 cannot produce (synthesize) bile |
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acids, which are a component of bile that stimulate bile flow and help it absorb |
OMIM |
235555 |
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fats and fat-soluble vitamins. As a result, an abnormal form of bile is |
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produced. |
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Orphanet |
79168 |
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html:p |
The signs and symptoms of congenital bile acid synthesis defect type 2 often |
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develop in infancy. Affected infants usually have a failure to gain weight and |
Orphanet |
79303 |
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grow at the expected rate (failure to thrive) and yellowing of the skin and eyes |
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(jaundice) due to impaired bile flow and a buildup of partially formed bile. |
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SNOMED CT |
235915002 |
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Excess fat in the feces (steatorrhea) is another feature of congenital bile acid |
db |
key |
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synthesis defect type 2. As the condition progresses, affected individuals can |
SNOMED CT |
238035000 |
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develop liver abnormalities including inflammation or chronic liver disease |
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(cirrhosis). Some individuals with congenital bile acid synthesis defect type 2 |
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cannot absorb certain fat-soluble vitamins, which can result in softening and |
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weakening of the bones (rickets) or problems with blood clotting that lead to |
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prolonged bleeding. |
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html:p |
If left untreated, congenital bile acid synthesis defect type 2 typically leads |
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to cirrhosis and death in childhood. |
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related-gene-list |
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Congenital cataracts, facial dysmorphism, and neuropathy |
https://ghr.nlm.nih.gov/condition/congenital-cataracts-facial-dysmorphism-and-ne |
The prevalence of CCFDN is unknown. The disorder has been identified in |
html:p |
Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) is a rare |
ar |
autosomal recessive |
CTDP1 |
https://ghr.nlm.nih.gov/gene/CTDP1 |
CCFDN |
db |
key |
2010-04 |
2017-12-29 |
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|
uropathy |
about 150 individuals of Romani ethnicity. Thus far, no affected individuals |
disorder that affects several parts of the body. It is characterized by a |
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GTR |
C1858726 |
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have been observed outside this community. |
clouding of the lens of the eyes at birth (congenital cataracts) and other eye |
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abnormalities, such as small or poorly developed eyes (microphthalmia) and |
GeneReviews |
ccfdn |
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abnormal eye movements (nystagmus). Affected individuals, particularly males, |
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often have distinctive facial features that become more apparent as they reach |
MeSH |
D015417 |
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adulthood. These features include a prominent midface, a large nose, protruding |
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teeth, and a small lower jaw. |
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OMIM |
604168 |
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html:p |
CCFDN causes progressive damage to the peripheral nerves, which connect the |
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brain and spinal cord to muscles and sensory cells. This nerve damage is known |
Orphanet |
48431 |
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as peripheral neuropathy. Weakness in the legs, followed by the arms, begins in |
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the first few years of life, and as a result children with CCFDN have delayed |
SNOMED CT |
702433001 |
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development of motor skills such as standing and walking. In adolescence, |
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affected individuals develop sensory abnormalities such as numbness and |
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tingling, mainly in the legs. By adulthood they typically have significant |
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difficulties with mobility. Muscle weakness can also lead to skeletal |
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abnormalities such as hand and foot deformities and abnormal curvature of the |
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spine. |
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html:p |
People with CCFDN may have problems with balance and coordination (ataxia), |
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tremors, and difficulty with movements that involve judging distance or scale |
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(dysmetria). Some have mild intellectual disability. Individuals with CCFDN have |
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short stature, are typically underweight, and have reduced bone density. |
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html:p |
A complication called rhabdomyolysis occurs in some people with CCFDN, typically |
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following a viral infection or, in rare cases, during or after surgery. |
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Rhabdomyolysis is a breakdown of muscle tissue that results in severe muscle |
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weakness. The destruction of muscle tissue releases a protein called myoglobin, |
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which is processed by the kidneys and released in the urine (myoglobinuria). The |
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presence of myoglobin causes the urine to be red or brown. The muscles may take |
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up to a year to recover, and the episodes may worsen the muscle weakness caused |
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by the neuropathy. |
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related-gene-list |
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Congenital central hypoventilation syndrome, CCHS |
https://ghr.nlm.nih.gov/condition/congenital-central-hypoventilation-syndrome |
CCHS is a relatively rare disorder. Approximately 1,000 individuals with |
html:p |
Congenital central hypoventilation syndrome (CCHS) is a disorder that affects |
ad |
autosomal dominant |
PHOX2B |
https://ghr.nlm.nih.gov/gene/PHOX2B |
CCHS |
db |
key |
2008-09 |
2017-12-29 |
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先天中樞性換氣不足症候群 |
this condition have been identified. Researchers believe that some cases of |
breathing. People with this disorder take shallow breaths (hypoventilate), |
congenital central hypoventilation |
GTR |
C1275808 |
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sudden infant death syndrome (SIDS) or sudden unexplained death in children may |
especially during sleep, resulting in a shortage of oxygen and a buildup of |
congenital failure of autonomic control |
db |
key |
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be caused by undiagnosed CCHS. |
carbon dioxide in the blood. Ordinarily, the part of the nervous system that |
Haddad syndrome |
GeneReviews |
ondine |
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controls involuntary body processes (autonomic nervous system) would react to |
Ondine-Hirschsprung disease |
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such an imbalance by stimulating the individual to breathe more deeply or wake |
Ondine Syndrome |
ICD-10-CM |
G47.35 |
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up. This reaction is impaired in people with CCHS, and they must be supported |
db |
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with a machine to help them breathe (mechanical ventilation) or a device that |
MeSH |
D020182 |
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stimulates a normal breathing pattern (diaphragm pacemaker). Some affected |
db |
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individuals need this support 24 hours a day, while others need it only at |
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OMIM |
209880 |
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night. |
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html:p |
Symptoms of CCHS usually become apparent shortly after birth. Affected infants |
Orphanet |
661 |
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hypoventilate upon falling asleep and exhibit a bluish appearance of the skin or |
db |
key |
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lips (cyanosis). Cyanosis is caused by lack of oxygen in the blood. In some |
SNOMED CT |
399040002 |
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milder cases, CCHS may be diagnosed later in life. In addition to the breathing |
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problem, people with this disorder may have difficulty regulating their heart |
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rate and blood pressure, for example in response to exercise or changes in body |
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position. They may have abnormalities in the nerves that control the digestive |
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tract (Hirschsprung disease), resulting in severe constipation, intestinal |
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blockage, and enlargement of the colon. They are also at increased risk of |
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developing certain tumors of the nervous system called neuroblastomas, |
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ganglioneuromas, and ganglioneuroblastomas. Some affected individuals develop |
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learning difficulties or other neurological problems, which may be worsened by |
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oxygen deprivation if treatment to support their breathing is not completely |
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effective. |
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html:p |
Individuals with CCHS usually have eye abnormalities, including a decreased |
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response of the pupils to light. They also have decreased perception of pain, |
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low body temperature, and occasional episodes of profuse sweating. |
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html:p |
People with CCHS, especially children, may have a characteristic appearance with |
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a short, wide, somewhat flattened face often described as "box-shaped." Life |
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expectancy and the extent of any cognitive disabilities depend on the severity |
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of the disorder, timing of the diagnosis, and the success of treatment. |
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related-gene-list |
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Congenital contractural arachnodactyly |
https://ghr.nlm.nih.gov/condition/congenital-contractural-arachnodactyly |
The prevalence of congenital contractural arachnodactyly is estimated to be |
html:p |
Congenital contractural arachnodactyly is a disorder that affects many parts of |
ad |
autosomal dominant |
FBN2 |
https://ghr.nlm.nih.gov/gene/FBN2 |
arthrogyroposis, distal, type 9 |
db |
key |
2013-07 |
2017-12-29 |
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先天性挛缩细长指(趾) |
less than 1 in 10,000 worldwide. |
the body. People with this condition typically are tall with long limbs |
Beals-Hecht syndrome |
GTR |
C0220668 |
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先天性攣縮蜘蛛樣指 |
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(dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They |
Beals syndrome |
db |
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Beals Syndrome |
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often have permanently bent joints (contractures) that can restrict movement in |
CCA |
GeneReviews |
cca |
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畢耳氏症候群 |
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their hips, knees, ankles, or elbows. Additional features of congenital |
contractural arachnodactyly, congenital |
db |
key |
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contractural arachnodactyly include underdeveloped muscles, a rounded upper back |
DA9 |
MeSH |
D001176 |
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that also curves to the side (kyphoscoliosis), permanently bent fingers and |
distal arthrogyropsis type 9 |
db |
key |
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toes (camptodactyly), ears that look "crumpled," and a protruding chest (pectus |
OMIM |
121050 |
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carinatum). Rarely, people with congenital contractural arachnodactyly have |
db |
key |
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heart defects such as an enlargement of the blood vessel that distributes blood |
Orphanet |
115 |
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from the heart to the rest of the body (aortic root dilatation) or a leak in one |
db |
key |
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of the valves that control blood flow through the heart (mitral valve |
|
SNOMED CT |
205821003 |
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prolapse). The life expectancy of individuals with congenital contractural |
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arachnodactyly varies depending on the severity of symptoms but is typically not |
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shortened. |
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html:p |
A rare, severe form of congenital contractural arachnodactyly involves both |
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heart and digestive system abnormalities in addition to the skeletal features |
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described above; individuals with this severe form of the condition usually do |
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not live past infancy. |
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related-gene-list |
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Congenital deafness with labyrinthine aplasia, microtia, and microdontia |
https://ghr.nlm.nih.gov/condition/congenital-deafness-with-labyrinthine-aplasia- |
LAMM syndrome is a rare condition, although its prevalence is unknown. |
html:p |
Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also |
ar |
autosomal recessive |
FGF3 |
https://ghr.nlm.nih.gov/gene/FGF3 |
congenital deafness with inner ear agenesis, microtia, and microdontia |
db |
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2012-11 |
2017-12-29 |
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先天性耳聾 |
microtia-and-microdontia |
Approximately a dozen affected families have been identified. |
called LAMM syndrome) is a condition that affects development of the ears and |
deafness with LAMM |
GTR |
C1853144 |
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teeth. In people with this condition, the structures that form the inner ear are |
LAMM syndrome |
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usually completely absent (labyrinthine aplasia). Rarely, affected individuals |
GeneReviews |
df-lamm |
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have some underdeveloped inner ear structures in one or both ears. The |
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abnormalities of the inner ear cause a form of hearing loss called sensorineural |
MeSH |
D006311 |
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deafness that is present from birth (congenital). Because the inner ear is |
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important for balance as well as hearing, development of motor skills, such as |
Orphanet |
90024 |
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sitting and crawling, may be delayed in affected infants. In addition, people |
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with LAMM syndrome often have abnormally small outer ears (microtia) with narrow |
SNOMED CT |
702360007 |
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ear canals. They can also have unusually small, widely spaced teeth |
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(microdontia). |
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related-gene-list |
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Congenital diaphragmatic hernia |
https://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia |
Congenital diaphragmatic hernia affects approximately 1 in 2,500 newborns. |
html:p |
Congenital diaphragmatic hernia is a defect in the diaphragm. The diaphragm, |
u |
pattern unknown |
GATA4 |
https://ghr.nlm.nih.gov/gene/GATA4 |
congenital diaphragmatic defect |
db |
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2013-09 |
2017-12-29 |
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先天性橫膈疝氣 |
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which is composed of muscle and other fibrous tissue, separates the organs in |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1840644 |
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the abdomen from those in the chest. Abnormal development of the diaphragm |
ZFPM2 |
https://ghr.nlm.nih.gov/gene/ZFPM2 |
db |
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before birth leads to defects ranging from a thinned area in the diaphragm to |
GTR |
C1857284 |
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its complete absence. An absent or partially formed diaphragm results in an |
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abnormal opening (hernia) that allows the stomach and intestines to move into |
GTR |
C1857781 |
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the chest cavity and crowd the heart and lungs. This crowding can lead to |
db |
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underdevelopment of the lungs (pulmonary hypoplasia), potentially resulting in |
GeneReviews |
cdh-ov |
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life-threatening breathing difficulties that are apparent from birth. |
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html:p |
In 5 to 10 percent of affected individuals, signs and symptoms of congenital |
ICD-10-CM |
Q79.0 |
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diaphragmatic hernia appear later in life and may include breathing problems or |
db |
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abdominal pain from protrusion of the intestine into the chest cavity. In about |
MeSH |
D006548 |
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1 percent of cases, congenital diaphragmatic hernia has no symptoms; it may be |
db |
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detected incidentally when medical imaging is done for other reasons. |
|
OMIM |
142340 |
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html:p |
Congenital diaphragmatic hernias are often classified by their position. A |
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Bochdalek hernia is a defect in the side or back of the diaphragm. Between 80 |
OMIM |
222400 |
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and 90 percent of congenital diaphragmatic hernias are of this type. A Morgnani |
db |
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hernia is a defect involving the front part of the diaphragm. This type of |
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OMIM |
610187 |
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congenital diaphragmatic hernia, which accounts for approximately 2 percent of |
db |
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cases, is less likely to cause severe symptoms at birth. Other types of |
|
Orphanet |
2140 |
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congenital diaphragmatic hernia, such as those affecting the central region of |
db |
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the diaphragm, or those in which the diaphragm muscle is absent with only a thin |
SNOMED CT |
17190001 |
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membrane in its place, are rare. |
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related-gene-list |
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Congenital dyserythropoietic anemia |
https://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia |
Several hundred cases of CDA have been reported worldwide. CDA type II is |
html:p |
Congenital dyserythropoietic anemia (CDA) is an inherited blood disorder that |
ad |
autosomal dominant |
CDAN1 |
https://ghr.nlm.nih.gov/gene/CDAN1 |
Anemia, Dyserythropoietic, Congenital |
db |
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2009-07 |
2017-12-29 |
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先天性红细胞生成异常性贫血 |
the most common form of the disorder, with more than 300 reported cases. CDA |
affects the development of red blood cells. This disorder is one of many types |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
CDA |
GTR |
C0002876 |
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type III is the rarest form; it has been described in only a few families from |
of anemia, which is a condition characterized by a shortage of red blood cells. |
ar |
autosomal recessive |
SEC23B |
https://ghr.nlm.nih.gov/gene/SEC23B |
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Sweden, Argentina, and the United States. The incidence of CDA type I is |
This shortage prevents the blood from carrying an adequate supply of oxygen to |
GeneReviews |
cda1 |
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unknown. Because CDA is so rare and its signs and symptoms overlap with those of |
the body's tissues. The resulting symptoms can include tiredness (fatigue), |
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other disorders, many cases likely remain undiagnosed or are incorrectly |
weakness, pale skin, and other complications. |
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ICD-10-CM |
D64.4 |
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diagnosed as other disorders. |
html:p |
Researchers have identified three major types of CDA: type I, type II, and type |
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III. The types have different genetic causes and different but overlapping |
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MeSH |
D000742 |
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patterns of signs and symptoms. |
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db |
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html:p |
CDA type I is characterized by moderate to severe anemia. It is usually |
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OMIM |
105600 |
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diagnosed in childhood or adolescence, although in some cases, the condition can |
db |
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be detected before birth. Many affected individuals have yellowing of the skin |
OMIM |
224100 |
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and eyes (jaundice) and an enlarged liver and spleen (hepatosplenomegaly). This |
db |
key |
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condition also causes the body to absorb too much iron, which builds up and can |
OMIM |
224120 |
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damage tissues and organs. In particular, iron overload can lead to an abnormal |
db |
key |
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heart rhythm (arrhythmia), congestive heart failure, diabetes, and chronic liver |
Orphanet |
85 |
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disease (cirrhosis). Rarely, people with CDA type I are born with skeletal |
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db |
key |
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abnormalities, most often involving the fingers and/or toes. |
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SNOMED CT |
26409005 |
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The anemia associated with CDA type II can range from mild to severe, and most |
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affected individuals have jaundice, hepatosplenomegaly, and the formation of |
SNOMED CT |
52951008 |
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hard deposits in the gallbladder called gallstones. This form of the disorder is |
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usually diagnosed in adolescence or early adulthood. An abnormal buildup of |
SNOMED CT |
59548005 |
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iron typically occurs after age 20, leading to complications including heart |
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disease, diabetes, and cirrhosis. |
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SNOMED CT |
68870007 |
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html:p |
The signs and symptoms of CDA type III tend to be milder than those of the other |
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types. Most affected individuals do not have hepatosplenomegaly, and iron does |
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not build up in tissues and organs. In adulthood, abnormalities of a specialized |
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tissue at the back of the eye (the retina) can cause vision impairment. Some |
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people with CDA type III also have a blood disorder known as monoclonal |
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gammopathy, which can lead to a cancer of white blood cells (multiple myeloma). |
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html:p |
Several other variants of CDA have been described, although they appear to be |
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rare and not much is known about them. Once researchers discover the genetic |
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causes of these variants, some of them may be grouped with the three major types |
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of CDA. |
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related-gene-list |
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Congenital fiber-type disproportion |
https://ghr.nlm.nih.gov/condition/congenital-fiber-type-disproportion |
Congenital fiber-type disproportion is thought to be a rare condition, |
html:p |
Congenital fiber-type disproportion is a condition that primarily affects |
ad |
autosomal dominant |
ACTA1 |
https://ghr.nlm.nih.gov/gene/ACTA1 |
CFTD |
db |
key |
2016-05 |
2017-12-29 |
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先天性纤维型失调 |
although its prevalence is unknown. |
skeletal muscles, which are muscles used for movement. People with this |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
CFTDM |
GTR |
C0546264 |
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(skeletal muscle) |
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condition typically experience muscle weakness (myopathy), particularly in the |
ar |
autosomal recessive |
MYH7 |
https://ghr.nlm.nih.gov/gene/MYH7 |
congenital myopathy 先天性肌肉病變 with fiber type disproportion |
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muscles of the shoulders, upper arms, hips, and thighs. Weakness can also affect |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
|
GeneReviews |
cftd |
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the muscles of the face and muscles that control eye movement |
x |
X-linked |
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RYR1 |
https://ghr.nlm.nih.gov/gene/RYR1 |
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(ophthalmoplegia眼肌), sometimes causing droopy eyelids (ptosis). Individuals with |
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D020914 |
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congenital fiber-type disproportion generally have a long face, a high arch in |
TPM2 |
https://ghr.nlm.nih.gov/gene/TPM2 |
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the roof of the mouth (high-arched palate), and crowded teeth. Affected |
related-gene |
gene-symbol |
ghr-page |
|
Orphanet |
2020 |
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individuals may have joint deformities (contractures) and an abnormally curved |
TPM3 |
https://ghr.nlm.nih.gov/gene/TPM3 |
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lower back (lordosis) or a spine that curves to the side (scoliosis). |
|
SNOMED CT |
240084007 |
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Approximately 30 percent of people with this disorder experience mild to severe |
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breathing problems related to weakness of muscles needed for breathing. Some |
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people who experience these breathing problems require use of a machine to help |
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regulate their breathing at night (noninvasive mechanical ventilation), and |
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occasionally during the day as well. About 30 percent of affected individuals |
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have difficulty swallowing due to muscle weakness in the throat. Rarely, people |
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with this condition have a weakened and enlarged heart muscle (dilated |
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cardiomyopathy). |
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html:p |
The severity of congenital fiber-type disproportion varies widely. It is |
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estimated that up to 25 percent of affected individuals experience severe muscle |
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weakness at birth and die in infancy or childhood. Others have only mild muscle |
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weakness that becomes apparent in adulthood. Most often, the signs and symptoms |
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of this condition appear by age 1. The first signs of this condition are |
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usually decreased muscle tone (hypotonia) and muscle weakness. In most cases, |
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muscle weakness does not worsen over time, and in some instances it may improve. |
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Although motor skills such as standing and walking may be delayed, many |
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affected children eventually learn to walk. These individuals often have less |
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stamina than their peers, but they remain active. Rarely, people with this |
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condition have a progressive decline in muscle strength over time. These |
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individuals may lose the ability to walk and require wheelchair assistance. |
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related-gene-list |
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Congenital fibrosis of the extraocular muscles (CFEOM) |
https://ghr.nlm.nih.gov/condition/congenital-fibrosis-of-the-extraocular-muscles |
CFEOM1 is the most common form of congenital fibrosis of the extraocular |
html:p |
Congenital fibrosis of the extraocular muscles is a disorder that affects the |
ad |
autosomal dominant |
KIF21A |
https://ghr.nlm.nih.gov/gene/KIF21A |
CFEOM |
db |
key |
2009-03 |
2017-12-29 |
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先天性眼外肌纖維化 |
muscles, affecting at least 1 in 230,000 people. CFEOM1 and CFEOM3 have been |
muscles that surround the eyes. These muscles control eye movement and the |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
congenital external ophthalmoplegia |
GTR |
CN043677 |
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reported worldwide, whereas CFEOM2 has been seen in only a few families of |
position of the eyes (for example, looking straight ahead). Congenital fibrosis |
ar |
autosomal recessive |
PHOX2A |
https://ghr.nlm.nih.gov/gene/PHOX2A |
congenital fibrosis of extraocular muscles |
db |
key |
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Turkish, Saudi Arabian, and Iranian descent. Tukel syndrome appears to be very |
of the extraocular muscles prevents the normal development and function of these |
congenital fibrosis syndrome |
GeneReviews |
cfeom |
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rare; it has been diagnosed in only one large Turkish family. |
muscles. As a result, affected individuals are unable to move their eyes |
general fibrosis syndrome |
db |
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normally. Most people with this condition have difficulty looking upward, and |
MeSH |
D015785 |
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their side-to-side eye movement may also be limited. The eyes may be misaligned |
db |
key |
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such that they look in different directions (strabismus). Instead of moving |
OMIM |
135700 |
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their eyes, affected individuals may need to turn their head to track moving |
db |
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objects. Additionally, many people with congenital fibrosis of the extraocular |
OMIM |
600638 |
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muscles have droopy eyelids (ptosis), which further limits their vision. |
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html:p |
Researchers have identified at least four forms of congenital fibrosis of the |
OMIM |
602078 |
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extraocular muscles, designated CFEOM1, CFEOM2, CFEOM3, and Tukel syndrome. The |
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specific problems with eye movement vary among the types. Tukel syndrome is |
OMIM |
609428 |
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characterized by missing fingers (oligodactyly) and other hand abnormalities in |
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addition to problems with eye movement. |
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Orphanet |
45358 |
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SNOMED CT |
204217005 |
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related-gene-list |
|
SNOMED CT |
400946004 |
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Congenital generalized lipodystrophy |
https://ghr.nlm.nih.gov/condition/congenital-generalized-lipodystrophy |
Congenital generalized lipodystrophy has an estimated prevalence of 1 in 10 |
html:p |
Congenital generalized lipodystrophy (also called Berardinelli-Seip congenital |
ar |
autosomal recessive |
AGPAT2 |
https://ghr.nlm.nih.gov/gene/AGPAT2 |
Berardinelli-Seip congenital lipodystrophy |
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key |
2016-01 |
2017-12-29 |
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先天性全身脂質營養不良症 |
million people worldwide. Between 300 and 500 people with the condition have |
lipodystrophy) is a rare condition characterized by an almost total lack of |
related-gene |
gene-symbol |
ghr-page |
Berardinelli-Seip syndrome |
GTR |
C0221032 |
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(lipodystrophy) |
been described in the medical literature. Although this condition has been |
fatty (adipose) tissue in the body and a very muscular appearance. Adipose |
BSCL2 |
https://ghr.nlm.nih.gov/gene/BSCL2 |
Brunzell syndrome (with bone cysts) |
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reported in populations around the world, it appears to be more common in |
tissue is found in many parts of the body, including beneath the skin and |
related-gene |
gene-symbol |
ghr-page |
BSCL |
GTR |
C1720862 |
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certain regions of Lebanon and Brazil. |
surrounding the internal organs. It stores fat for energy and also provides |
CAV1 |
https://ghr.nlm.nih.gov/gene/CAV1 |
generalized lipodystrophy |
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cushioning. Congenital generalized lipodystrophy is part of a group of related |
related-gene |
gene-symbol |
ghr-page |
lipodystrophy, congenital generalized |
GTR |
C1720863 |
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disorders known as lipodystrophies, which are all characterized by a loss of |
CAVIN1 |
https://ghr.nlm.nih.gov/gene/CAVIN1 |
Seip syndrome |
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adipose tissue. A shortage of adipose tissue leads to the storage of fat |
total lipodystrophy |
GTR |
C2675861 |
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elsewhere in the body, such as in the liver and muscles, which causes serious |
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health problems. |
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GTR |
C2750069 |
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html:p |
The signs and symptoms of congenital generalized lipodystrophy are usually |
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apparent from birth or early childhood. One of the most common features is |
GeneReviews |
bscl |
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insulin resistance, a condition in which the body's tissues are unable to |
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recognize insulin, a hormone that normally helps to regulate blood sugar levels. |
MeSH |
D052497 |
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Insulin resistance may develop into a more serious disease called diabetes |
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mellitus. Most affected individuals also have high levels of fats called |
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OMIM |
269700 |
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triglycerides circulating in the bloodstream (hypertriglyceridemia), which can |
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lead to the development of small yellow deposits of fat under the skin called |
OMIM |
608594 |
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eruptive xanthomas and inflammation of the pancreas (pancreatitis). |
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Additionally, congenital generalized lipodystrophy causes an abnormal buildup of |
OMIM |
612526 |
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fats in the liver (hepatic steatosis), which can result in an enlarged liver |
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(hepatomegaly) and liver failure. Some affected individuals develop a form of |
OMIM |
613327 |
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heart disease called hypertrophic cardiomyopathy, which can lead to heart |
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failure and an abnormal heart rhythm (arrhythmia) that can cause sudden death. |
Orphanet |
528 |
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html:p |
People with congenital generalized lipodystrophy have a distinctive physical |
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appearance. They appear very muscular because they have an almost complete |
SNOMED CT |
284449005 |
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absence of adipose tissue and an overgrowth of muscle tissue. A lack of adipose |
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tissue under the skin also makes the veins appear prominent. Affected |
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individuals tend to have a large chin, prominent bones above the eyes (orbital |
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ridges), large hands and feet, and a prominent belly button (umbilicus). |
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Affected females may have an enlarged clitoris (clitoromegaly), an increased |
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amount of body hair (hirsutism), irregular menstrual periods, and multiple cysts |
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on the ovaries, which may be related to hormonal changes. Many people with this |
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disorder develop acanthosis nigricans, a skin condition related to high levels |
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of insulin in the bloodstream. Acanthosis nigricans causes the skin in body |
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folds and creases to become thick, dark, and velvety. |
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html:p |
Researchers have described four types of congenital generalized lipodystrophy, |
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which are distinguished by their genetic cause. The types also have some |
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differences in their typical signs and symptoms. For example, in addition to the |
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features described above, some people with congenital generalized lipodystrophy |
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type 1 develop cysts in the long bones of the arms and legs after puberty. Type |
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2 can be associated with intellectual disability, which is usually mild to |
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moderate. Type 3 appears to cause poor growth and short stature, along with |
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other health problems. Type 4 is associated with muscle weakness, delayed |
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development, joint abnormalities, a narrowing of the lower part of the stomach |
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(pyloric stenosis), and severe arrhythmia that can lead to sudden death. |
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related-gene-list |
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Congenital hemidysplasia with ichthyosiform erythroderma and limb defects |
https://ghr.nlm.nih.gov/condition/congenital-hemidysplasia-with-ichthyosiform-er |
CHILD syndrome is a rare disorder; it has been reported in about 60 people |
html:p |
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more |
xd |
X-linked dominant |
NSDHL |
https://ghr.nlm.nih.gov/gene/NSDHL |
CHILD syndrome |
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key |
2008-07 |
2017-12-29 |
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ythroderma-and-limb-defects |
worldwide. This condition occurs almost exclusively in females. |
commonly known by the acronym CHILD syndrome, is a condition that affects the |
Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, |
GTR |
C0265267 |
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development of several parts of the body. The signs and symptoms of this |
especially absence deformity of limbs |
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disorder are typically limited to either the right side or the left side of the |
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GeneReviews |
nsdhl-dis |
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body. ("Hemi-" means "half," and "dysplasia" refers to abnormal growth.) The |
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right side is affected about twice as often as the left side. |
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MeSH |
D016113 |
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html:p |
People with CHILD syndrome have a skin condition characterized by large patches |
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of skin that are red and inflamed (erythroderma) and covered with flaky scales |
OMIM |
308050 |
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(ichthyosis). This condition is most likely to occur in skin folds and creases |
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and usually does not affect the face. The skin abnormalities are present at |
Orphanet |
139 |
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birth and persist throughout life. |
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html:p |
CHILD syndrome also disrupts the formation of the arms and legs during early |
SNOMED CT |
17608003 |
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development. Children with this disorder may be born with one or more limbs |
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that are shortened or missing. The limb abnormalities occur on the same side of |
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the body as the skin abnormalities. |
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html:p |
Additionally, CHILD syndrome may affect the development of the brain, heart, |
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lungs, and kidneys. |
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synonym-list |
db-key-list |
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Congenital hepatic fibrosis |
https://ghr.nlm.nih.gov/condition/congenital-hepatic-fibrosis |
Isolated congenital hepatic fibrosis is rare. Its prevalence is unknown. |
html:p |
Congenital hepatic fibrosis is a disease of the liver that is present from |
ad |
autosomal dominant |
synonym |
congenital fibrose liver |
key |
2017-12-29 |
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The total prevalence of syndromes that include congenital hepatic fibrosis as a |
birth. The liver has many important functions, including producing various |
code |
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db-key |
C0009714 |
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feature is estimated to be 1 in 10,000 to 20,000 individuals. |
substances needed by the body and breaking down other substances into smaller |
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autosomal recessive |
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parts to be used or eliminated. |
code |
memo |
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db-key |
hepatic-fibrosis |
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html:p |
Congenital hepatic fibrosis is characterized by malformation of the bile ducts |
xr |
X-linked recessive |
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and the blood vessels of the hepatic portal system. Bile ducts carry bile (a |
db-key |
D008107 |
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fluid that helps to digest fats) from the liver to the gallbladder and small |
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intestine. The hepatic portal system is a branching network of veins (portal |
79607001 |
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veins) that carry blood from the gastrointestinal tract to the liver for |
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processing. |
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html:p |
A buildup of scar tissue (fibrosis) in the portal tracts also occurs in this |
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disorder. Portal tracts are structures in the liver that bundle the vessels |
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through which blood, lymph, and bile flow. Lymph is a fluid that helps exchange |
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immune cells, proteins, and other substances between the blood and tissues. |
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Fibrosis in the portal tracts can restrict the normal movement of fluids in |
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these vessels. |
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html:p |
Constriction of the portal veins due to malformation and portal tract fibrosis |
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results in high blood pressure in the hepatic portal system (portal |
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hypertension). Portal hypertension impairs the flow of blood from the |
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gastrointestinal tract, causing an increase in pressure in the veins of the |
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esophagus, stomach, and intestines. These veins may stretch and their walls may |
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become thin, leading to a risk of abnormal bleeding. |
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html:p |
People with congenital hepatic fibrosis have an enlarged liver and spleen |
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(hepatosplenomegaly). The liver is also abnormally shaped. Affected individuals |
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also have an increased risk of infection of the bile ducts (cholangitis), hard |
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deposits in the gallbladder or bile ducts (gallstones), and cancer of the liver |
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or gallbladder. |
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html:p |
Congenital hepatic fibrosis may occur alone, in which case it is called isolated |
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congenital hepatic fibrosis. More frequently, it occurs as a feature of genetic |
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syndromes that also affect the kidneys, such as polycystic kidney disease |
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(PKD). |
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related-gene-list |
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Congenital hyperinsulinism |
https://ghr.nlm.nih.gov/condition/congenital-hyperinsulinism |
Congenital hyperinsulinism affects approximately 1 in 50,000 newborns. This |
html:p |
Congenital hyperinsulinism is a condition that causes individuals to have |
ad |
autosomal dominant |
ABCC8 |
https://ghr.nlm.nih.gov/gene/ABCC8 |
hyperinsulinemia hypoglycemia of infancy |
db |
key |
2014-01 |
2017-12-29 |
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先天性胰岛素过多症 |
condition is more common in certain populations, affecting up to 1 in 2,500 |
abnormally high levels of insulin, which is a hormone that helps control blood |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
infancy hyperinsulinemia hypoglycemia |
GTR |
C0027773 |
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newborns. |
sugar levels. People with this condition have frequent episodes of low blood |
ar |
autosomal recessive |
GCK |
https://ghr.nlm.nih.gov/gene/GCK |
neonatal hyperinsulinism |
db |
key |
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sugar (hypoglycemia). In infants and young children, these episodes are |
related-gene |
gene-symbol |
ghr-page |
persistent hyperinsulinemia hypoglycemia of infancy |
GTR |
C1257959 |
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characterized by a lack of energy (lethargy), irritability, or difficulty |
GLUD1 |
https://ghr.nlm.nih.gov/gene/GLUD1 |
persistent hyperinsulinemic hypoglycemia |
db |
key |
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feeding. Repeated episodes of low blood sugar increase the risk for serious |
related-gene |
gene-symbol |
ghr-page |
PHHI hypoglycemia |
GTR |
C1847555 |
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complications such as breathing difficulties, seizures, intellectual disability, |
HADH |
https://ghr.nlm.nih.gov/gene/HADH |
db |
key |
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vision loss, brain damage, and coma. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1864902 |
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html:p |
The severity of congenital hyperinsulinism varies widely among affected |
HNF1A |
https://ghr.nlm.nih.gov/gene/HNF1A |
db |
key |
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individuals, even among members of the same family. About 60 percent of infants |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1864948 |
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with this condition experience a hypoglycemic episode within the first month of |
HNF4A |
https://ghr.nlm.nih.gov/gene/HNF4A |
db |
key |
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life. Other affected children develop hypoglycemia by early childhood. Unlike |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1864952 |
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typical episodes of hypoglycemia, which occur most often after periods without |
KCNJ11 |
https://ghr.nlm.nih.gov/gene/KCNJ11 |
db |
key |
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food (fasting) or after exercising, episodes of hypoglycemia in people with |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1865290 |
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congenital hyperinsulinism can also occur after eating. |
SLC16A1 |
https://ghr.nlm.nih.gov/gene/SLC16A1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3888018 |
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UCP2 |
https://ghr.nlm.nih.gov/gene/UCP2 |
db |
key |
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GeneReviews |
hi |
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db |
key |
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ICD-10-CM |
E16.1 |
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db |
key |
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MeSH |
D044903 |
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db |
key |
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OMIM |
256450 |
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db |
key |
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OMIM |
601820 |
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db |
key |
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OMIM |
602485 |
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db |
key |
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OMIM |
606762 |
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db |
key |
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OMIM |
609968 |
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db |
key |
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OMIM |
609975 |
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db |
key |
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OMIM |
610021 |
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db |
key |
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Orphanet |
657 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
360339005 |
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Congenital hypothyroidism |
https://ghr.nlm.nih.gov/condition/congenital-hypothyroidism |
Congenital hypothyroidism affects an estimated 1 in 2,000 to 4,000 |
html:p |
Congenital hypothyroidism is a partial or complete loss of function of the |
ad |
autosomal dominant |
DUOX2 |
https://ghr.nlm.nih.gov/gene/DUOX2 |
CH |
db |
key |
2015-09 |
2017-12-29 |
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先天性甲狀腺機能低下症 |
newborns. For reasons that remain unclear, congenital hypothyroidism affects |
thyroid gland (hypothyroidism) that affects infants from birth (congenital). The |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
CHT |
GTR |
C0010308 |
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more than twice as many females as males. |
thyroid gland is a butterfly-shaped tissue in the lower neck. It makes |
ar |
autosomal recessive |
DUOXA2 |
https://ghr.nlm.nih.gov/gene/DUOXA2 |
congenital myxedema |
db |
key |
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iodine-containing hormones that play an important role in regulating growth, |
related-gene |
gene-symbol |
ghr-page |
cretinism |
GTR |
C0342196 |
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brain development, and the rate of chemical reactions in the body (metabolism). |
IYD |
https://ghr.nlm.nih.gov/gene/IYD |
db |
key |
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People with congenital hypothyroidism have lower-than-normal levels of these |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1291299 |
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important hormones. |
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NKX2-5 |
https://ghr.nlm.nih.gov/gene/NKX2-5 |
db |
key |
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html:p |
Congenital hypothyroidism occurs when the thyroid gland fails to develop or |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1563716 |
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function properly. In 80 to 85 percent of cases, the thyroid gland is absent, |
PAX8 |
https://ghr.nlm.nih.gov/gene/PAX8 |
db |
key |
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severely reduced in size (hypoplastic), or abnormally located. These cases are |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1846632 |
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classified as thyroid dysgenesis. In the remainder of cases, a normal-sized or |
SLC5A5 |
https://ghr.nlm.nih.gov/gene/SLC5A5 |
db |
key |
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enlarged thyroid gland (goiter) is present, but production of thyroid hormones |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1848805 |
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is decreased or absent. Most of these cases occur when one of several steps in |
SLC26A4 |
https://ghr.nlm.nih.gov/gene/SLC26A4 |
db |
key |
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the hormone synthesis process is impaired; these cases are classified as thyroid |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3493776 |
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dyshormonogenesis. Less commonly, reduction or absence of thyroid hormone |
TG |
https://ghr.nlm.nih.gov/gene/TG |
db |
key |
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production is caused by impaired stimulation of the production process (which is |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
E03.0 |
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normally done by a structure at the base of the brain called the pituitary |
THRA |
https://ghr.nlm.nih.gov/gene/THRA |
db |
key |
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gland), even though the process itself is unimpaired. These cases are classified |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
E03.1 |
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as central (or pituitary) hypothyroidism. |
|
TPO |
https://ghr.nlm.nih.gov/gene/TPO |
db |
key |
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html:p |
Signs and symptoms of congenital hypothyroidism result from the shortage of |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
E03.8 |
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thyroid hormones. Affected babies may show no features of the condition, |
TRHR |
https://ghr.nlm.nih.gov/gene/TRHR |
db |
key |
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although some babies with congenital hypothyroidism are less active and sleep |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
E03.9 |
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more than normal. They may have difficulty feeding and experience constipation. |
TSHB |
https://ghr.nlm.nih.gov/gene/TSHB |
db |
key |
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If untreated, congenital hypothyroidism can lead to intellectual disability and |
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D003409 |
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slow growth. In the United States and many other countries, all hospitals test |
TSHR |
https://ghr.nlm.nih.gov/gene/TSHR |
db |
key |
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newborns for congenital hypothyroidism. If treatment begins in the first two |
OMIM |
218700 |
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weeks after birth, infants usually develop normally. |
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html:p |
Congenital hypothyroidism can also occur as part of syndromes that affect other |
OMIM |
274400 |
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organs and tissues in the body. These forms of the condition are described as |
db |
key |
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syndromic. Some common forms of syndromic hypothyroidism include Pendred |
OMIM |
274500 |
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syndrome, Bamforth-Lazarus syndrome, and brain-lung-thyroid syndrome. |
db |
key |
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OMIM |
274900 |
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db |
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OMIM |
275200 |
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db |
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OMIM |
607200 |
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db |
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Orphanet |
442 |
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db |
key |
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SNOMED CT |
190268003 |
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db |
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SNOMED CT |
237515009 |
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db |
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SNOMED CT |
278503003 |
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db |
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SNOMED CT |
367524008 |
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db |
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SNOMED CT |
64491003 |
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db |
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related-gene-list |
|
SNOMED CT |
75065003 |
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Congenital insensitivity to pain |
https://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain |
Congenital insensitivity to pain is a rare condition; about 20 cases have |
html:p |
Congenital insensitivity to pain is a condition that inhibits the ability to |
ar |
autosomal recessive |
SCN9A |
https://ghr.nlm.nih.gov/gene/SCN9A |
asymbolia for pain |
db |
key |
2012-11 |
2017-12-29 |
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先天性痛不敏感症 |
been reported in the scientific literature. |
perceive physical pain. From birth, affected individuals never feel pain in any |
channelopathy-associated insensitivity to pain |
GTR |
C1855739 |
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(peritheral neuropathy) |
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part of their body when injured. People with this condition can feel the |
CIP |
db |
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difference between sharp and dull and hot and cold, but cannot sense, for |
congenital analgesia |
MeSH |
D000699 |
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example, that a hot beverage is burning their tongue. This lack of pain |
congenital indifference to pain |
db |
key |
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awareness often leads to an accumulation of wounds, bruises, broken bones, and |
congenital pain indifference |
OMIM |
243000 |
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other health issues that may go undetected. Young children with congenital |
indifference to pain, congenital, autosomal recessive |
db |
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insensitivity to pain may have mouth or finger wounds due to repeated |
pain insensitivity, congenital |
Orphanet |
88642 |
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self-biting and may also experience multiple burn-related injuries. These |
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repeated injuries often lead to a reduced life expectancy in people with |
|
SNOMED CT |
403605007 |
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congenital insensitivity to pain. Many people with congenital insensitivity to |
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pain also have a complete loss of the sense of smell (anosmia). |
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html:p |
Congenital insensitivity to pain is considered a form of peripheral neuropathy |
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because it affects the peripheral nervous system, which connects the brain and |
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spinal cord to muscles and to cells that detect sensations such as touch, smell, |
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and pain. |
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related-gene-list |
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Congenital insensitivity to pain with anhidrosis |
https://ghr.nlm.nih.gov/condition/congenital-insensitivity-to-pain-with-anhidros |
CIPA is a rare condition; however, the prevalence is unknown. |
html:p |
Congenital insensitivity to pain with anhidrosis (CIPA) has two characteristic |
ar |
autosomal recessive |
NTRK1 |
https://ghr.nlm.nih.gov/gene/NTRK1 |
CIPA |
db |
key |
2011-05 |
2017-12-29 |
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先天性痛不敏感症合併無汗症 |
features: the inability to feel pain and temperature, and decreased or absent |
hereditary insensitivity to pain with anhidrosis |
GTR |
C0020074 |
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sweating (anhidrosis). This condition is also known as hereditary sensory and |
hereditary sensory and autonomic neuropathy type IV |
db |
key |
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autonomic neuropathy type IV. The signs and symptoms of CIPA appear early, |
hereditary sensory and autonomic neuropathy, type 4 |
GeneReviews |
hsan4 |
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usually at birth or during infancy, but with careful medical attention, affected |
HSAN type IV |
db |
key |
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individuals can live into adulthood. |
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HSAN4 |
MeSH |
D009477 |
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html:p |
An inability to feel pain and temperature often leads to repeated severe |
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db |
key |
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injuries. Unintentional self-injury is common in people with CIPA, typically by |
OMIM |
256800 |
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biting the tongue, lips, or fingers, which may lead to spontaneous amputation of |
db |
key |
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the affected area. In addition, people with CIPA heal slowly from skin and bone |
Orphanet |
642 |
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injuries. Repeated trauma can lead to chronic bone infections (osteomyelitis) |
db |
key |
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or a condition called Charcot joints, in which the bones and tissue surrounding |
SNOMED CT |
62985007 |
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joints are destroyed. |
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html:p |
Normally, sweating helps cool the body temperature. However, in people with |
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CIPA, anhidrosis often causes recurrent, extremely high fevers (hyperpyrexia) |
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and seizures brought on by high temperature (febrile seizures). |
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html:p |
In addition to the characteristic features, there are other signs and symptoms |
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of CIPA. Many affected individuals have thick, leathery skin (lichenification) |
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on the palms of their hands or misshapen fingernails or toenails. They can also |
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have patches on their scalp where hair does not grow (hypotrichosis). About half |
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of people with CIPA show signs of hyperactivity or emotional instability, and |
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many affected individuals have intellectual disability. Some people with CIPA |
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have weak muscle tone (hypotonia) when they are young, but muscle strength and |
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tone become more normal as they get older. |
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Congenital Interstitial Cell of Cajal Hyperplasia With Neuronal Intestinal Dysplasia |
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先天性Cajal氏間質細胞增生合併腸道神經元發育異常 |
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related-gene-list |
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Congenital leptin deficiency |
https://ghr.nlm.nih.gov/condition/congenital-leptin-deficiency |
Congenital leptin deficiency is a rare disorder. Only a few dozen cases |
html:p |
Congenital leptin deficiency is a condition that causes severe obesity beginning |
ar |
autosomal recessive |
LEP |
https://ghr.nlm.nih.gov/gene/LEP |
LEPD |
db |
key |
2013-12 |
2017-12-29 |
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have been reported in the medical literature. |
in the first few months of life. Affected individuals are of normal weight at |
leptin deficiency |
GTR |
C3554224 |
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birth, but they are constantly hungry and quickly gain weight. Without |
obesity due to congenital leptin deficiency |
db |
key |
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treatment, the extreme hunger continues and leads to chronic excessive eating |
obesity, morbid, due to leptin deficiency |
MeSH |
D009767 |
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(hyperphagia) and obesity. Beginning in early childhood, affected individuals |
obesity, morbid, nonsyndromic 1 |
db |
key |
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develop abnormal eating behaviors such as fighting with other children over |
obesity, severe, due to leptin deficiency |
OMIM |
614962 |
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food, hoarding food, and eating in secret. |
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db |
key |
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html:p |
People with congenital leptin deficiency also have hypogonadotropic |
|
Orphanet |
66628 |
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hypogonadism, which is a condition caused by reduced production of hormones that |
db |
key |
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direct sexual development. Without treatment, affected individuals experience |
SNOMED CT |
700150001 |
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delayed puberty or do not go through puberty, and may be unable to conceive |
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children (infertile). |
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related-gene-list |
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Congenital mirror movement disorder |
https://ghr.nlm.nih.gov/condition/congenital-mirror-movement-disorder |
Congenital mirror movement disorder is a very rare disorder. Its prevalence |
html:p |
Congenital mirror movement disorder is a condition in which intentional |
ad |
autosomal dominant |
DCC |
https://ghr.nlm.nih.gov/gene/DCC |
bimanual synergia |
db |
key |
2015-04 |
2017-12-29 |
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is thought to be less than 1 in 1 million. Researchers suggest that some mildly |
movements of one side of the body are mirrored by involuntary movements of the |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
bimanual synkinesis |
GTR |
CN201638 |
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affected individuals may never be diagnosed. |
other side. For example, when an affected individual makes a fist with the right |
ar |
autosomal recessive |
RAD51 |
https://ghr.nlm.nih.gov/gene/RAD51 |
CMM |
db |
key |
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hand, the left hand makes a similar movement. The mirror movements in this |
congenital mirror movements |
GeneReviews |
mirror |
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disorder primarily involve the upper limbs, especially the hands and fingers. |
mirror movements |
db |
key |
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This pattern of movements is present from infancy or early childhood and usually |
MeSH |
D009069 |
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persists throughout life, without other associated signs and symptoms. |
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db |
key |
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Intelligence and lifespan are not affected. |
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OMIM |
157600 |
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html:p |
People with congenital mirror movement disorder can have some difficulty with |
db |
key |
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certain activities of daily living, particularly with those requiring different |
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OMIM |
614508 |
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movements in each hand, such as typing on a keyboard. They may experience |
db |
key |
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discomfort or pain in the upper limbs during prolonged use of the hands. |
|
Orphanet |
238722 |
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html:p |
The extent of the mirror movements in this disorder can vary, even within the |
db |
key |
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same family. In most cases, the involuntary movements are noticeable but less |
SNOMED CT |
229247004 |
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pronounced than the corresponding voluntary movements. The extent of the |
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movements typically stay the same throughout the lifetime of an affected |
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individual. |
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html:p |
Mirror movements can also occur in people who do not have congenital mirror |
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movement disorder. Mild mirror movements are common during the normal |
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development of young children and typically disappear before age 7. They can |
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also develop later in life in people with neurodegenerative disorders such as |
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Parkinson disease. Mirror movements may also be present in certain other |
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conditions with a wider range of signs and symptoms (syndromes). |
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Congenittal muscular dystrophy, CMD |
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先天性肌肉萎縮症 |
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related-gene-list |
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Congenital myasthenic syndrome |
https://ghr.nlm.nih.gov/condition/congenital-myasthenic-syndrome |
The prevalence of congenital myasthenic syndrome is unknown. At least 600 |
html:p |
Congenital myasthenic syndrome is a group of conditions characterized by muscle |
ad |
autosomal dominant |
AGRN |
https://ghr.nlm.nih.gov/gene/AGRN |
CMS |
db |
key |
2011-11 |
2017-12-29 |
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先天肌無力症 |
families with affected individuals have been described in the scientific |
weakness (myasthenia) that worsens with physical exertion. The muscle weakness |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
congenital myasthenia |
GTR |
C0393929 |
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(muscle) |
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literature. |
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typically begins in early childhood but can also appear in adolescence or |
ar |
autosomal recessive |
CHAT |
https://ghr.nlm.nih.gov/gene/CHAT |
congenital myasthenic syndromes |
db |
key |
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adulthood. Facial muscles, including muscles that control the eyelids, muscles |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0751882 |
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that move the eyes, and muscles used for chewing and swallowing, are most |
CHRNA1 |
https://ghr.nlm.nih.gov/gene/CHRNA1 |
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commonly affected. However, any of the muscles used for movement (skeletal |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0751885 |
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muscles) can be affected in this condition. Due to muscle weakness, affected |
CHRNB1 |
https://ghr.nlm.nih.gov/gene/CHRNB1 |
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infants may have feeding difficulties. Development of motor skills such as |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1837091 |
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crawling or walking may be delayed. The severity of the myasthenia varies |
CHRND |
https://ghr.nlm.nih.gov/gene/CHRND |
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greatly, with some people experiencing minor weakness and others having such |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1837122 |
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severe weakness that they are unable to walk. |
CHRNE |
https://ghr.nlm.nih.gov/gene/CHRNE |
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html:p |
Some individuals have episodes of breathing problems that may be triggered by |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1850792 |
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fevers or infection. Severely affected individuals may also experience short |
COLQ |
https://ghr.nlm.nih.gov/gene/COLQ |
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pauses in breathing (apnea) that can lead to a bluish appearance of the skin or |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1864233 |
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lips (cyanosis). |
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DOK7 |
https://ghr.nlm.nih.gov/gene/DOK7 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C3502630 |
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GFPT1 |
https://ghr.nlm.nih.gov/gene/GFPT1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
CN119608 |
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MUSK |
https://ghr.nlm.nih.gov/gene/MUSK |
db |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
CN228621 |
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PLEC |
https://ghr.nlm.nih.gov/gene/PLEC |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
cms |
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RAPSN |
https://ghr.nlm.nih.gov/gene/RAPSN |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
G70.2 |
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SCN4A |
https://ghr.nlm.nih.gov/gene/SCN4A |
db |
key |
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MeSH |
D020294 |
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db |
key |
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OMIM |
254210 |
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db |
key |
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OMIM |
254300 |
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db |
key |
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OMIM |
601462 |
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db |
key |
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OMIM |
603034 |
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db |
key |
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OMIM |
608930 |
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db |
key |
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OMIM |
608931 |
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db |
key |
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OMIM |
610542 |
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db |
key |
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OMIM |
614198 |
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db |
key |
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OMIM |
614198 |
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db |
key |
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Orphanet |
590 |
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db |
key |
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SNOMED CT |
230670003 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
230672006 |
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Congenital nephrotic syndrome |
https://ghr.nlm.nih.gov/condition/congenital-nephrotic-syndrome |
Congenital nephrotic syndrome affects 1 to 3 per 100,000 children |
html:p |
Congenital nephrotic syndrome is a kidney condition that begins in infancy and |
ar |
autosomal recessive |
LAMB2 |
https://ghr.nlm.nih.gov/gene/LAMB2 |
familial nephrotic syndrome |
db |
key |
2016-07 |
2017-12-29 |
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先天性腎病症群 |
worldwide. In Finland, where this condition is particularly common, congenital |
typically leads to irreversible kidney failure (end-stage renal disease) by |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0403399 |
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(renal) |
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nephrotic syndrome is estimated to affect 1 in 10,000 children. |
early childhood. Children with congenital nephrotic syndrome begin to have |
NPHS1 |
https://ghr.nlm.nih.gov/gene/NPHS1 |
db |
key |
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symptoms of the condition between birth and 3 months. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
CN043611 |
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html:p |
The features of congenital nephrotic syndrome are caused by failure of the |
NPHS2 |
https://ghr.nlm.nih.gov/gene/NPHS2 |
db |
key |
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kidneys to filter waste products from the blood and remove them in urine. Signs |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
N04 |
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and symptoms of this condition are excessive protein in the urine (proteinuria), |
PLCE1 |
https://ghr.nlm.nih.gov/gene/PLCE1 |
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increased cholesterol in the blood (hypercholesterolemia), an abnormal buildup |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D009404 |
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of fluid in the abdominal cavity (ascites), and swelling (edema). Affected |
WT1 |
https://ghr.nlm.nih.gov/gene/WT1 |
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individuals may also have blood in the urine (hematuria), which can lead to a |
OMIM |
256300 |
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reduced number of red blood cells (anemia) in the body, abnormal blood clotting, |
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or reduced amounts of certain white blood cells. Low white blood cell counts |
OMIM |
600995 |
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can lead to a weakened immune system and frequent infections in people with |
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congenital nephrotic syndrome. |
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Orphanet |
839 |
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html:p |
Children with congenital nephrotic syndrome typically develop end-stage renal |
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disease between ages 2 and 8, although with treatment, some may not have kidney |
SNOMED CT |
48796009 |
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failure until adolescence or early adulthood. |
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related-gene-list |
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Congenital plasminogen deficiency |
https://ghr.nlm.nih.gov/condition/congenital-plasminogen-deficiency |
The prevalence of congenital plasminogen deficiency has been estimated at |
html:p |
Congenital plasminogen deficiency is a disorder that results in inflamed growths |
ar |
autosomal recessive |
PLG |
https://ghr.nlm.nih.gov/gene/PLG |
hypoplasminogenemia |
db |
key |
2012-08 |
2017-12-29 |
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低纤溶酶原症 |
1.6 per one million people. This condition is believed to be underdiagnosed, |
on the mucous membranes, which are the moist tissues that line body openings |
plasminogen deficiency, type I |
GTR |
C1968804 |
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because growths in one area are often not recognized as being a feature of a |
such as the eyelids and the inside of the mouth. Development of the growths are |
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disorder that affects many body systems. Mild cases likely never come to medical |
usually triggered by infections or injury, but they may also occur spontaneously |
ICD-10-CM |
H10.51 |
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attention. |
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in the absence of known triggers. The growths may recur after being removed. |
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html:p |
Congenital plasminogen deficiency most often affects the conjunctiva, which are |
ICD-10-CM |
H10.511 |
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the mucous membranes that protect the white part of the eye (the sclera) and |
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line the eyelids. A characteristic feature of this disorder is ligneous |
|
ICD-10-CM |
H10.512 |
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conjunctivitis, in which a buildup of a protein called fibrin causes |
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inflammation of the conjunctiva (conjunctivitis) and leads to thick, woody |
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ICD-10-CM |
H10.513 |
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(ligneous), inflamed growths that are yellow, white, or red. Ligneous |
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conjunctivitis most often occurs on the inside of the eyelids. However, in about |
ICD-10-CM |
H10.519 |
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one-third of cases, ligneous conjunctivitis over the sclera grows onto the |
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cornea, which is the clear covering that protects the colored part of the eye |
MeSH |
D020147 |
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(the iris) and pupil. Such growths can tear the cornea or cause scarring. These |
db |
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corneal problems as well as obstruction by growths inside the eyelid can lead to |
OMIM |
217090 |
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vision loss. |
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html:p |
People with congenital plasminogen deficiency may also develop ligneous growths |
Orphanet |
722 |
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on other mucous membranes, including the inside of the mouth and the gums; the |
db |
key |
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lining of the nasal cavity; and in females, the vagina. Growths on the mucous |
Orphanet |
97231 |
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membranes that line the gastrointestinal tract may result in ulcers. The growths |
db |
key |
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may also develop in the windpipe, which can cause life-threatening airway |
SNOMED CT |
403435005 |
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obstruction, especially in children. In a small number of cases, affected |
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individuals are born with impaired drainage of the fluid that surrounds and |
SNOMED CT |
95841006 |
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protects the brain and spinal cord (the cerebrospinal fluid or CSF), resulting |
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in a buildup of this fluid in the skull (occlusive hydrocephalus). It is unclear |
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how this feature is related to the other signs and symptoms of congenital |
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plasminogen deficiency. |
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related-gene-list |
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Congenital stromal corneal dystrophy |
https://ghr.nlm.nih.gov/condition/congenital-stromal-corneal-dystrophy |
Congenital stromal corneal dystrophy is probably very rare; only a few |
html:p |
Congenital stromal corneal dystrophy is an inherited eye disorder. This |
ad |
autosomal dominant |
DCN |
https://ghr.nlm.nih.gov/gene/DCN |
congenital hereditary stromal dystrophy of the cornea |
db |
key |
2009-08 |
2017-12-29 |
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(visual) |
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affected families have been reported in the medical literature. |
condition primarily affects the cornea, which is the clear outer covering of the |
congenital stromal dystrophy of the cornea |
GTR |
C1864738 |
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eye. In people with this condition, the cornea appears cloudy and may have an |
corneal dystrophy, congenital stromal |
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irregular surface. These corneal changes lead to visual impairment, including |
CSCD |
GeneReviews |
csc-dys |
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blurring, glare, and a loss of sharp vision (reduced visual acuity). Visual |
DACS |
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impairment is often associated with additional eye abnormalities, including |
decorin-associated congenital stromal corneal dystrophy |
MeSH |
D003317 |
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"lazy eye" (amblyopia), eyes that do not look in the same direction |
dystrophia corneae parenchymatosa congenita |
db |
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(strabismus), involuntary eye movements (nystagmus), and increased sensitivity |
OMIM |
610048 |
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to light (photophobia). |
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Orphanet |
101068 |
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db |
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related-gene-list |
|
SNOMED CT |
702359002 |
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Congenital sucrase-isomaltase deficiency |
https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency |
The prevalence of congenital sucrase-isomaltase deficiency is estimated to |
html:p |
Congenital sucrase-isomaltase deficiency is a disorder that affects a person's |
ar |
autosomal recessive |
SI |
https://ghr.nlm.nih.gov/gene/SI |
congenital sucrose intolerance |
db |
key |
2008-07 |
2017-12-29 |
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先天性蔗糖酶 - 異麥芽糖酶缺乏症 |
be 1 in 5,000 people of European descent. This condition is much more prevalent |
ability to digest certain sugars. People with this condition cannot break down |
congenital sucrose-isomaltose malabsorption |
GTR |
C1283620 |
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(Sugar metabolism) |
in the native populations of Greenland, Alaska, and Canada, where as many as 1 |
the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also |
CSID |
db |
key |
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in 20 people may be affected. |
known as table sugar) and maltose (the sugar found in grains) are called |
disaccharide intolerance I |
ICD-10-CM |
E74.31 |
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disaccharides because they are made of two simple sugars. Disaccharides are |
SI deficiency |
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key |
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broken down into simple sugars during digestion. Sucrose is broken down into |
sucrase-isomaltase deficiency |
MeSH |
D002239 |
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glucose and another simple sugar called fructose, and maltose is broken down |
db |
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into two glucose molecules. People with congenital sucrase-isomaltase |
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OMIM |
222900 |
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deficiency cannot break down the sugars sucrose and maltose, and other compounds |
db |
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made from these sugar molecules (carbohydrates). |
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Orphanet |
35122 |
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html:p |
Congenital sucrase-isomaltase deficiency usually becomes apparent after an |
db |
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infant is weaned and starts to consume fruits, juices, and grains. After |
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SNOMED CT |
78373000 |
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ingestion of sucrose or maltose, an affected child will typically experience |
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stomach cramps, bloating, excess gas production, and diarrhea. These digestive |
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problems can lead to failure to gain weight and grow at the expected rate |
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(failure to thrive) and malnutrition. Most affected children are better able to |
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tolerate sucrose and maltose as they get older. |
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Congenital Varicella Syndrome |
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先天性水痘症候群 |
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related-gene-list |
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Core binding factor acute myeloid leukemia |
https://ghr.nlm.nih.gov/condition/core-binding-factor-acute-myeloid-leukemia |
Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals |
html:p |
Core binding factor acute myeloid leukemia (CBF-AML) is one form of a cancer of |
n |
not inherited |
CBFB |
https://ghr.nlm.nih.gov/gene/CBFB |
CBF acute myeloid leukemia |
db |
key |
2013-11 |
2017-12-29 |
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(Leukemia) |
each year. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases |
the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal |
related-gene |
gene-symbol |
ghr-page |
CBF-AML |
GTR |
C0023467 |
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in adults. |
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bone marrow, early blood cells called hematopoietic stem cells develop into |
FLT3 |
https://ghr.nlm.nih.gov/gene/FLT3 |
core-binding factor AML |
db |
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several types of blood cells: white blood cells (leukocytes) that protect the |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D015470 |
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body from infection, red blood cells (erythrocytes) that carry oxygen, and blood |
KIT |
https://ghr.nlm.nih.gov/gene/KIT |
db |
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cell fragments called platelets (thrombocytes) that are involved in blood |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
601626 |
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clotting. In acute myeloid leukemia, the bone marrow makes large numbers of |
KRAS |
https://ghr.nlm.nih.gov/gene/KRAS |
db |
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abnormal, immature white blood cells called myeloid blasts. Instead of |
related-gene |
gene-symbol |
ghr-page |
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Orphanet |
519 |
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developing into normal white blood cells, the myeloid blasts develop into |
MYH11 |
https://ghr.nlm.nih.gov/gene/MYH11 |
db |
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cancerous leukemia cells. The large number of abnormal cells in the bone marrow |
related-gene |
gene-symbol |
ghr-page |
|
SNOMED CT |
702446006 |
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interferes with the production of functional white blood cells, red blood cells, |
NRAS |
https://ghr.nlm.nih.gov/gene/NRAS |
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and platelets. |
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related-gene |
gene-symbol |
ghr-page |
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html:p |
People with CBF-AML have a shortage of all types of mature blood cells: a |
RUNX1 |
https://ghr.nlm.nih.gov/gene/RUNX1 |
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shortage of white blood cells (leukopenia) leads to increased susceptibility to |
related-gene |
gene-symbol |
ghr-page |
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infections, a low number of red blood cells (anemia) causes fatigue and |
RUNX1T1 |
https://ghr.nlm.nih.gov/gene/RUNX1T1 |
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weakness, and a reduction in the amount of platelets (thrombocytopenia) can |
related-chromosome |
name |
ghr-page |
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result in easy bruising and abnormal bleeding. Other symptoms of CBF-AML may |
8 |
https://ghr.nlm.nih.gov/chromosome/8 |
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include fever and weight loss. |
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related-chromosome |
name |
ghr-page |
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html:p |
While acute myeloid leukemia is generally a disease of older adults, CBF-AML |
16 |
https://ghr.nlm.nih.gov/chromosome/16 |
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often begins in young adulthood and can occur in childhood. Compared to other |
related-chromosome |
name |
ghr-page |
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forms of acute myeloid leukemia, CBF-AML has a relatively good prognosis: about |
21 |
https://ghr.nlm.nih.gov/chromosome/21 |
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90 percent of individuals with CBF-AML recover from their disease following |
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treatment, compared with 25 to 40 percent of those with other forms of acute |
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myeloid leukemia. However, the disease recurs in approximately half of them |
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after successful treatment of the initial occurrence. |
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related-gene-list |
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Cornelia de Lange syndrome |
https://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome |
Although the exact incidence is unknown, Cornelia de Lange syndrome likely |
html:p |
Cornelia de Lange syndrome is a developmental disorder that affects many parts |
ad |
autosomal dominant |
HDAC8 |
https://ghr.nlm.nih.gov/gene/HDAC8 |
BDLS |
db |
key |
2015-09 |
2017-12-29 |
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De Lange syndrome |
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affects 1 in 10,000 to 30,000 newborns. The condition is probably underdiagnosed |
of the body. The features of this disorder vary widely among affected |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Brachmann-de Lange syndrome |
GTR |
C0270972 |
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|
de Lange 症候群 |
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because affected individuals with mild or uncommon features may never be |
individuals and range from relatively mild to severe. |
xr |
X-linked recessive |
NIPBL |
https://ghr.nlm.nih.gov/gene/NIPBL |
CdLS |
db |
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狄蘭氏症候群 |
recognized as having Cornelia de Lange syndrome. |
html:p |
Cornelia de Lange syndrome is characterized by slow growth before and after |
related-gene |
gene-symbol |
ghr-page |
de Lange syndrome |
GTR |
CN239271 |
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(developmental) |
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birth leading to short stature; intellectual disability that is usually moderate |
RAD21 |
https://ghr.nlm.nih.gov/gene/RAD21 |
typus degenerativus amstelodamensis |
db |
key |
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to severe; and abnormalities of bones in the arms, hands, and fingers. Most |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
cdls |
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people with Cornelia de Lange syndrome also have distinctive facial features, |
SMC1A |
https://ghr.nlm.nih.gov/gene/SMC1A |
db |
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including arched eyebrows that often meet in the middle (synophrys), long |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D003635 |
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eyelashes, low-set ears, small and widely spaced teeth, and a small and upturned |
SMC3 |
https://ghr.nlm.nih.gov/gene/SMC3 |
db |
key |
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nose. Many affected individuals also have behavior problems similar to autism, |
OMIM |
122470 |
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a developmental condition that affects communication and social interaction. |
db |
key |
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html:p |
Additional signs and symptoms of Cornelia de Lange syndrome can include |
OMIM |
300590 |
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excessive body hair (hypertrichosis), an unusually small head (microcephaly), |
db |
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hearing loss, and problems with the digestive tract. Some people with this |
OMIM |
300882 |
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condition are born with an opening in the roof of the mouth called a cleft |
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palate. Seizures, heart defects, and eye problems have also been reported in |
OMIM |
610759 |
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people with this condition. |
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OMIM |
614701 |
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db |
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Orphanet |
199 |
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related-gene-list |
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SNOMED CT |
40354009 |
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Corticosteroid-binding globulin deficiency |
https://ghr.nlm.nih.gov/condition/corticosteroid-binding-globulin-deficiency |
The prevalence of corticosteroid-binding globulin deficiency is unknown, |
html:p |
Corticosteroid-binding globulin deficiency is a condition with subtle signs and |
ar |
autosomal recessive |
SERPINA6 |
https://ghr.nlm.nih.gov/gene/SERPINA6 |
CBG deficiency |
db |
key |
2014-03 |
2017-12-29 |
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皮質類固醇結合球蛋白缺乏症 |
but it is thought to be a rare disorder. However, because some people with the |
symptoms, the most frequent being extreme tiredness (fatigue), especially after |
transcortin deficiency |
GTR |
C1852529 |
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disorder have mild or no symptoms, it is likely that corticosteroid-binding |
physical exertion. Many people with this condition have unusually low blood |
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globulin deficiency is underdiagnosed. |
pressure (hypotension). Some affected individuals have a fatty liver or |
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MeSH |
D030342 |
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experience chronic pain, particularly in their muscles. These features vary |
db |
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among affected individuals, even those within the same family. |
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OMIM |
611489 |
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html:p |
Many people with corticosteroid-binding globulin deficiency have only one or two |
db |
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of these features; others have no signs and symptoms of the disorder and are |
SNOMED CT |
237768001 |
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only diagnosed after a relative is found to be affected. |
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html:p |
Some people with corticosteroid-binding globulin deficiency also have a |
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condition called chronic fatigue syndrome. The features of chronic fatigue |
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syndrome are prolonged fatigue that interferes with daily activities, as well as |
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general symptoms, such as sore throat or headaches. |
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related-gene-list |
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Corticosterone methyloxidase deficiency |
https://ghr.nlm.nih.gov/condition/corticosterone-methyloxidase-deficiency |
Corticosterone methyloxidase deficiency is a rare disorder; its prevalence |
html:p |
Corticosterone methyloxidase deficiency, also known as aldosterone synthase |
ar |
autosomal recessive |
CYP11B2 |
https://ghr.nlm.nih.gov/gene/CYP11B2 |
18-hydroxylase deficiency |
db |
key |
2013-11 |
2017-12-29 |
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皮质酮甲氧ase酶缺乏症 |
is unknown. Researchers have described two types of the condition: Type I is |
deficiency, is a disorder characterized by excessive amounts of sodium released |
18-oxidase deficiency |
GTR |
C3463917 |
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more common in the Amish population of Lancaster, Pennsylvania, while type II is |
in the urine (salt wasting), along with insufficient release of potassium in the |
aldosterone deficiency |
db |
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more common in people of Iranian Jewish ancestry. The two types have similar |
urine, usually beginning in the first few weeks of life. This imbalance leads |
aldosterone deficiency due to deficiency of steroid 18-hydroxylase |
GTR |
CN074214 |
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signs and symptoms but can be distinguished by laboratory testing. |
to low levels of sodium and high levels of potassium in the blood (hyponatremia |
aldosterone deficiency due to deficiency of steroid 18-oxidase |
db |
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and hyperkalemia, respectively). Individuals with corticosterone methyloxidase |
aldosterone synthase deficiency |
MeSH |
D006994 |
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deficiency can also have high levels of acid in the blood (metabolic acidosis). |
CMO deficiency |
db |
key |
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html:p |
The hyponatremia, hyperkalemia, and metabolic acidosis associated with |
congenital hypoaldosteronism |
OMIM |
203400 |
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corticosterone methyloxidase deficiency can cause nausea, vomiting, dehydration, |
corticosterone 18-monooxygenase deficiency |
db |
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low blood pressure, extreme tiredness (fatigue), and muscle weakness. Affected |
corticosterone methyl oxidase deficiency |
OMIM |
610600 |
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infants often experience failure to thrive, which means they do not gain weight |
familial hyperreninemic hypoaldosteronism |
db |
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and grow at the expected rate. Severe cases of corticosterone methyloxidase |
steroid 18-hydroxylase deficiency |
Orphanet |
427 |
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deficiency can result in seizures and coma and can be life-threatening. However, |
steroid 18-oxidase deficiency |
db |
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affected individuals who survive infancy generally have a normal life |
Visser-Cost syndrome |
SNOMED CT |
47757001 |
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expectancy, and the signs and symptoms of the disorder typically become milder |
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or disappear by adulthood. |
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related-gene-list |
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Costeff syndrome |
https://ghr.nlm.nih.gov/condition/costeff-syndrome |
Costeff syndrome affects an estimated 1 in 10,000 individuals in the Iraqi |
html:p |
Costeff syndrome is a condition characterized by vision loss, movement problems, |
ar |
autosomal recessive |
OPA3 |
https://ghr.nlm.nih.gov/gene/OPA3 |
3-methylglutaconic aciduria type 3 |
db |
key |
2014-07 |
2017-12-29 |
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Jewish population, in which at least 40 cases have been described. Outside this |
and intellectual disability. People with Costeff syndrome have degeneration |
3-methylglutaconic aciduria type III |
GTR |
C0574084 |
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population, only a few affected individuals have been identified. |
(atrophy) of the optic nerves, which carry information from the eyes to the |
autosomal recessive OPA3 |
db |
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brain. This optic nerve atrophy often begins in infancy or early childhood and |
autosomal recessive optic atrophy 3 |
GeneReviews |
mga3 |
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results in vision loss that worsens over time. Some affected individuals have |
Costeff optic atrophy syndrome |
db |
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rapid and involuntary eye movements (nystagmus) or eyes that do not look in the |
infantile optic atrophy with chorea and spastic paraplegia |
ICD-10-CM |
E71.111 |
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same direction (strabismus). |
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Iraqi Jewish optic atrophy plus |
db |
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html:p |
Movement problems in people with Costeff syndrome develop in late childhood and |
MGA, type III |
MeSH |
D008661 |
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include muscle stiffness (spasticity), impaired muscle coordination (ataxia), |
MGA3 |
db |
key |
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and involuntary jerking movements (choreiform movements). As a result of these |
OPA3 defect |
OMIM |
258501 |
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movement difficulties, individuals with Costeff syndrome may require wheelchair |
optic atrophy plus syndrome |
db |
key |
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assistance. |
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Orphanet |
67047 |
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html:p |
While some people with Costeff syndrome have intellectual disability that ranges |
db |
key |
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from mild to moderate, many people with this condition have normal |
|
SNOMED CT |
297232009 |
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intelligence. |
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Costeff syndrome is associated with increased levels of a substance called |
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3-methylglutaconic acid in the urine. The amount of the acid does not appear to |
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influence the signs and symptoms of the condition. Costeff syndrome is one of a |
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group of metabolic disorders that can be diagnosed by the presence of increased |
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levels of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People |
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with Costeff syndrome also have high urine levels of another acid called |
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3-methylglutaric acid. |
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related-gene-list |
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Costello syndrome |
https://ghr.nlm.nih.gov/condition/costello-syndrome |
This condition is very rare; it probably affects 200 to 300 people |
html:p |
Costello syndrome is a disorder that affects many parts of the body. This |
ad |
autosomal dominant |
HRAS |
https://ghr.nlm.nih.gov/gene/HRAS |
faciocutaneoskeletal syndrome |
db |
key |
2012-07 |
2017-12-29 |
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克斯提洛氏彈性蛋白缺陷症(小黑人症) |
worldwide. Reported estimates of Costello syndrome prevalence range from 1 in |
condition is characterized by delayed development and intellectual disability, |
FCS syndrome |
GTR |
C0587248 |
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300,000 to 1 in 1.25 million people. |
loose folds of skin (which are especially noticeable on the hands and feet), |
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unusually flexible joints, and distinctive facial features including a large |
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GeneReviews |
costello |
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mouth. Heart problems are common, including an abnormal heartbeat (arrhythmia), |
db |
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structural heart defects, and a type of heart disease that enlarges and weakens |
MeSH |
D056685 |
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the heart muscle (hypertrophic cardiomyopathy). Infants with Costello syndrome |
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may be larger than average at birth, but most have difficulty feeding and grow |
OMIM |
218040 |
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more slowly than other children. People with this condition have relatively |
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short stature and may have reduced growth hormone levels. Other signs and |
Orphanet |
3071 |
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symptoms of Costello syndrome can include tight Achilles tendons (which connect |
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the calf muscles to the heel), weak muscle tone (hypotonia), a structural |
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SNOMED CT |
309776008 |
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abnormality of the brain called a Chiari I malformation, skeletal abnormalities, |
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dental problems, and problems with vision. |
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html:p |
Beginning in early childhood, people with Costello syndrome are at an increased |
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risk of developing certain cancerous and noncancerous tumors. The most common |
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noncancerous tumors associated with this condition are papillomas, which are |
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small, wart-like growths that usually develop around the nose and mouth or near |
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the anus. The most common cancerous tumor associated with Costello syndrome is a |
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childhood cancer called rhabdomyosarcoma, which begins in muscle tissue. |
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Neuroblastoma, a tumor that arises in developing nerve cells, also has been |
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reported in children and adolescents with this syndrome. In addition, some |
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teenagers with Costello syndrome have developed transitional cell carcinoma, a |
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form of bladder cancer that is usually seen in older adults. |
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html:p |
The signs and symptoms of Costello syndrome overlap significantly with those of |
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two other genetic conditions, cardiofaciocutaneous syndrome (CFC syndrome) and |
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Noonan syndrome. In affected infants, it can be difficult to tell the three |
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conditions apart based on their physical features. However, the conditions can |
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be distinguished by their genetic cause and by specific patterns of signs and |
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symptoms that develop later in childhood. |
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inheritance-pattern-list |
related-gene-list |
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Cowden syndrome |
https://ghr.nlm.nih.gov/condition/cowden-syndrome |
Although the exact prevalence of Cowden syndrome is unknown, researchers |
html:p |
Cowden syndrome is a disorder characterized by multiple noncancerous, tumor-like |
ad |
autosomal dominant |
ghr-page |
CD |
db-key |
db |
key |
2012-10 |
2017-12-29 |
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Cowden综合症 |
estimate that it affects about 1 in 200,000 people. |
growths called hamartomas and an increased risk of developing certain cancers. |
related-gene |
https://ghr.nlm.nih.gov/gene/KLLN |
Cowden disease |
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GTR |
C0018553 |
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html:p |
Almost everyone with Cowden syndrome develops hamartomas. These growths are most |
ghr-page |
Cowden's disease |
db-key |
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commonly found on the skin and mucous membranes (such as the lining of the |
related-gene |
https://ghr.nlm.nih.gov/gene/PTEN |
Cowden's syndrome |
GTR |
C3552552 |
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mouth and nose), but they can also occur in the intestine and other parts of the |
ghr-page |
CS |
db-key |
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body. The growth of hamartomas on the skin and mucous membranes typically |
related-gene |
https://ghr.nlm.nih.gov/gene/SDHB |
MHAM |
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GTR |
CN072330 |
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becomes apparent by a person's late twenties. |
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ghr-page |
multiple hamartoma syndrome |
db-key |
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html:p |
Cowden syndrome is associated with an increased risk of developing several types |
https://ghr.nlm.nih.gov/gene/SDHD |
|
GeneReviews |
phts |
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of cancer, particularly cancers of the breast, a gland in the lower neck called |
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the thyroid, and the lining of the uterus (the endometrium). Other cancers that |
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ICD-10-CM |
Q85.8 |
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have been identified in people with Cowden syndrome include colorectal cancer, |
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db-key |
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kidney cancer, and a form of skin cancer called melanoma. Compared with the |
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MeSH |
D006223 |
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general population, people with Cowden syndrome develop these cancers at younger |
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db-key |
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ages, often beginning in their thirties or forties. Other diseases of the |
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OMIM |
158350 |
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breast, thyroid, and endometrium are also common in Cowden syndrome. Additional |
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db-key |
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signs and symptoms can include an enlarged head (macrocephaly) and a rare, |
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OMIM |
612359 |
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noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of |
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db-key |
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affected individuals have delayed development or intellectual disability. |
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Orphanet |
201 |
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html:p |
The features of Cowden syndrome overlap with those of another disorder called |
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db-key |
db |
key |
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Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome |
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Orphanet |
65285 |
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also develop hamartomas and other noncancerous tumors. Both conditions can be |
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html:i |
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SNOMED CT |
58037000 |
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PTEN |
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hamartoma tumor syndrome instead of two distinct conditions. |
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html:p |
Some people have some of the characteristic features of Cowden syndrome, |
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particularly the cancers associated with this condition, but do not meet the |
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strict criteria for a diagnosis of Cowden syndrome. These individuals are often |
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described as having Cowden-like syndrome. |
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related-gene-list |
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Cranioectodermal dysplasia |
https://ghr.nlm.nih.gov/condition/cranioectodermal-dysplasia |
Cranioectodermal dysplasia is a rare condition with an unknown prevalence. |
html:p |
Cranioectodermal dysplasia is a disorder that affects many parts of the body. |
ar |
autosomal recessive |
IFT43 |
https://ghr.nlm.nih.gov/gene/IFT43 |
CED |
db |
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2013-11 |
2017-12-29 |
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顱骨發育不良 |
Approximately 40 cases of this condition have been described in the medical |
The most common features involve bone abnormalities and abnormal development of |
related-gene |
gene-symbol |
ghr-page |
Sensenbrenner syndrome |
GTR |
C0432235 |
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literature. |
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certain tissues known as ectodermal tissues, which include the skin, hair, |
IFT122 |
https://ghr.nlm.nih.gov/gene/IFT122 |
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nails, and teeth. The signs and symptoms of this condition vary among affected |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3150874 |
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individuals, even among members of the same family. |
WDR19 |
https://ghr.nlm.nih.gov/gene/WDR19 |
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html:p |
Distinctive abnormalities of the skull and face are common in people with |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3279807 |
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cranioectodermal dysplasia. Most affected individuals have a prominent forehead |
WDR35 |
https://ghr.nlm.nih.gov/gene/WDR35 |
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(frontal bossing) and an elongated head (dolichocephaly) due to abnormal fusion |
GTR |
C3280616 |
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of certain skull bones (sagittal craniosynostosis). A variety of facial |
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abnormalities can occur in people with this condition; these include low-set |
GeneReviews |
ce-dysp |
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ears that may also be rotated backward, an increased distance between the inner |
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corners of the eyes (telecanthus), and outside corners of the eyes that point |
MeSH |
D000015 |
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upward or downward (upslanting or downslanting palpebral fissures) among others. |
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html:p |
Development of bones in the rest of the skeleton is also affected in this |
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MeSH |
D004476 |
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condition. Abnormalities in the long bones of the arms and legs (metaphyseal |
db |
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dysplasia) lead to short limbs and short stature. In addition, affected |
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OMIM |
218330 |
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individuals often have short fingers (brachydactyly). Some people with this |
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condition have short rib bones and a narrow rib cage, which can cause breathing |
OMIM |
613610 |
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problems, especially in affected newborns. |
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html:p |
Abnormal development of ectodermal tissues in people with cranioectodermal |
OMIM |
614099 |
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dysplasia can lead to sparse hair, small or missing teeth, short fingernails and |
db |
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toenails, and loose skin. |
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OMIM |
614378 |
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html:p |
Cranioectodermal dysplasia can affect additional organs and tissues in the body. |
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A kidney disorder known as nephronophthisis occurs in many people with this |
Orphanet |
1515 |
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condition, and it can lead to a life-threatening failure of kidney function |
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known as end-stage renal disease. Abnormalities of the liver, heart, or eyes |
SNOMED CT |
254093009 |
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also occur in people with cranioectodermal dysplasia. |
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related-gene-list |
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Craniofacial-deafness-hand syndrome |
https://ghr.nlm.nih.gov/condition/craniofacial-deafness-hand-syndrome |
Craniofacial-deafness-hand syndrome is an extremely rare condition. Only a |
html:p |
Craniofacial-deafness-hand syndrome is characterized by distinctive facial |
ad |
autosomal dominant |
PAX3 |
https://ghr.nlm.nih.gov/gene/PAX3 |
CDHS |
db |
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2012-08 |
2017-12-29 |
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few cases have been reported in the scientific literature. |
features, profound hearing loss, and hand abnormalities. |
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GTR |
C1852510 |
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html:p |
The distinctive facial features of people with craniofacial-deafness-hand |
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syndrome result from a variety of developmental abnormalities involving the |
MeSH |
D006319 |
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skull (cranium) and face. Affected individuals often have underdeveloped or |
db |
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absent nasal bones resulting in a small nose, thin nostrils, and a flattened |
MeSH |
D019465 |
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mid-face with a flat nasal bridge. Individuals with this condition typically |
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also have widely spaced eyes (ocular hypertelorism), narrowed openings of the |
OMIM |
122880 |
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eyes (narrowed palpebral fissures), a small upper jaw (hypoplastic maxilla), |
db |
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and a small mouth with pursed lips. |
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Orphanet |
1529 |
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html:p |
People with this condition also have profound hearing loss that is caused by |
db |
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abnormalities in the inner ear (sensorineural deafness). Hearing loss in these |
SNOMED CT |
702362004 |
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individuals is present from birth. |
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html:p |
In affected individuals, a common abnormality of the muscles in the hand is a |
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malformation in which all of the fingers are angled outward toward the fifth |
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finger (ulnar deviation). People with craniofacial-deafness-hand syndrome may |
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also have permanently bent third, fourth, and fifth fingers (camptodactyly), |
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which can limit finger movement and lead to joint deformities called |
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contractures. Contractures in the wrist can further impair hand movements. |
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synonym-list |
db-key-list |
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Craniofacial microsomia |
https://ghr.nlm.nih.gov/condition/craniofacial-microsomia |
Craniofacial microsomia has been estimated to occur in between 1 in 5,600 |
html:p |
Craniofacial microsomia is a term used to describe a spectrum of abnormalities |
ad |
autosomal dominant |
synonym |
auriculobranchiogenic dysplasia |
key |
2017-12-29 |
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颅面短小 |
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and 1 in 26,550 newborns. However, this range may be an underestimate because |
that primarily affect the development of the skull (cranium) and face before |
code |
memo |
synonym |
CFM |
db-key |
C0265240 |
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not all medical professionals agree on the criteria for diagnosis of this |
birth. Microsomia means abnormal smallness of body structures. Most people with |
ar |
autosomal recessive |
synonym |
facioauriculovertebral dysplasia |
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condition, and because mild cases may never come to medical attention. For |
craniofacial microsomia have differences in the size and shape of facial |
synonym |
FAV |
db-key |
m-hfm-ov |
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reasons that are unclear, the disorder occurs about 50 percent more often in |
structures between the right and left sides of the face (facial asymmetry). In |
synonym |
first and second branchial arch syndrome |
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males than in females. |
about two-thirds of cases, both sides of the face have abnormalities, which |
synonym |
first and second pharyngeal arch syndromes |
db-key |
D006053 |
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usually differ from one side to the other. Other individuals with craniofacial |
synonym |
Goldenhar-Gorlin syndrome |
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microsomia are affected on only one side of the face. The facial characteristics |
synonym |
Goldenhar syndrome |
db-key |
D019465 |
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in craniofacial microsomia typically include underdevelopment of one side of |
synonym |
hemifacial microsomia |
key |
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the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause |
synonym |
HFM |
db-key |
164210 |
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dental problems and difficulties with feeding and speech. In cases of severe |
synonym |
lateral facial dysplasia |
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mandibular hypoplasia, breathing may also be affected. |
synonym |
OAV complex |
db-key |
374 |
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html:p |
People with craniofacial microsomia usually have ear abnormalities affecting one |
synonym |
OAVS |
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or both ears, typically to different degrees. They may have growths of skin |
synonym |
oculoauriculovertebral spectrum |
db-key |
109393007 |
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(skin tags) in front of the ear (preauricular tags), an underdeveloped or absent |
synonym |
oral-mandibular-auricular syndrome |
key |
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external ear (microtia or anotia), or a closed or absent ear canal; these |
synonym |
otomandibular dysostosis |
db-key |
205418005 |
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abnormalities may lead to hearing loss. Eye problems are less common in |
synonym |
unilateral intrauterine facial necrosis |
key |
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craniofacial microsomia, but some affected individuals have an unusually small |
synonym |
unilateral mandibulofacial dysostosis |
db-key |
254025006 |
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eyeball (microphthalmia) or other eye abnormalities that result in vision loss. |
key |
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html:p |
Abnormalities in other parts of the body, such as malformed bones of the spine |
db-key |
254026007 |
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(vertebrae), abnormally shaped kidneys, and heart defects, may also occur in |
key |
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people with craniofacial microsomia. |
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db-key |
367462009 |
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html:p |
Many other terms have been used for craniofacial microsomia. These other names |
key |
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generally refer to forms of craniofacial microsomia with specific combinations |
703973009 |
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of signs and symptoms, although sometimes they are used interchangeably. |
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Hemifacial microsomia often refers to craniofacial microsomia with maxillary or |
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mandibular hypoplasia. People with hemifacial microsomia and noncancerous |
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(benign) growths in the eye called epibulbar dermoids may be said to have |
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Goldenhar syndrome or oculoauricular dysplasia. |
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related-gene-list |
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Craniometaphyseal dysplasia |
https://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia |
Craniometaphyseal dysplasia is a very rare disorder; its incidence is |
html:p |
Craniometaphyseal dysplasia is a rare condition characterized by progressive |
ad |
autosomal dominant |
ANKH |
https://ghr.nlm.nih.gov/gene/ANKH |
Autosomal dominant craniometaphyseal dysplasia |
db |
key |
2009-02 |
2017-12-29 |
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顱骨幹骺端發育不良 |
unknown. |
thickening of bones in the skull (cranium) and abnormalities at the ends of long |
code |
memo |
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Autosomal recessive craniometaphyseal dysplasia |
GTR |
C1852502 |
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bones in the limbs (metaphyseal dysplasia). Except in the most severe cases, |
ar |
autosomal recessive |
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CMD |
db |
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the lifespan of people with craniometaphyseal dysplasia is normal. |
CMDD |
GTR |
C1857496 |
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html:p |
Bone overgrowth in the head causes many of the signs and symptoms of |
CMDJ |
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craniometaphyseal dysplasia. Affected individuals typically have distinctive |
CMDR |
GeneReviews |
cranio-md |
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facial features such as a wide nasal bridge, a prominent forehead, wide-set eyes |
Craniometaphyseal dysplasia, Jackson type |
db |
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(hypertelorism), and a prominent jaw. Excessive new bone formation |
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MeSH |
D009139 |
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(hyperostosis) in the jaw can delay teething (dentition) or result in absent |
db |
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(non-erupting) teeth. Infants with this condition may have breathing or feeding |
OMIM |
123000 |
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problems caused by narrow nasal passages. In severe cases, abnormal bone growth |
db |
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can compress the nerves that emerge from the brain and extend to various areas |
Orphanet |
1522 |
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of the head and neck (cranial nerves). Compression of the cranial nerves can |
db |
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lead to paralyzed facial muscles (facial nerve palsy), blindness, or deafness. |
SNOMED CT |
254134004 |
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html:p |
The x-rays of individuals with craniometaphyseal dysplasia show unusually shaped |
db |
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long bones, particularly the large bones in the legs. The ends of these bones |
SNOMED CT |
254135003 |
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(metaphyses) are wider and appear less dense in people with this condition. |
db |
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html:p |
There are two types of craniometaphyseal dysplasia, which are distinguished by |
SNOMED CT |
36601008 |
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their pattern of inheritance. They are known as the autosomal dominant and |
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autosomal recessive types. Autosomal recessive craniometaphyseal dysplasia is |
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typically more severe than the autosomal dominant form. |
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related-gene-list |
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Cri-du-chat syndrome |
https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome |
Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. |
html:p |
Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a |
n |
not inherited |
CTNND2 |
https://ghr.nlm.nih.gov/gene/CTNND2 |
5p deletion syndrome |
db |
key |
2014-02 |
2017-12-29 |
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貓哭症 |
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This condition is found in people of all ethnic backgrounds. |
chromosomal condition that results when a piece of chromosome 5 is missing. |
related-chromosome |
name |
ghr-page |
5p- syndrome |
GTR |
C0010314 |
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5p deletion syndrome |
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Infants with this condition often have a high-pitched cry that sounds like that |
5 |
https://ghr.nlm.nih.gov/chromosome/5 |
cat cry syndrome |
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of a cat. The disorder is characterized by intellectual disability and delayed |
chromosome 5p- syndrome |
ICD-10-CM |
Q93.4 |
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development, small head size (microcephaly), low birth weight, and weak muscle |
monosomy 5p |
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tone (hypotonia) in infancy. Affected individuals also have distinctive facial |
MeSH |
D003410 |
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features, including widely set eyes (hypertelorism), low-set ears, a small jaw, |
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and a rounded face. Some children with cri-du-chat syndrome are born with a |
OMIM |
123450 |
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heart defect. |
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Orphanet |
281 |
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related-gene-list |
|
SNOMED CT |
70173007 |
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Crigler-Najjar syndrome |
https://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome |
Crigler-Najjar syndrome is estimated to affect fewer than 1 in 1 million |
html:p |
Crigler-Najjar syndrome is a severe condition characterized by high levels of a |
ar |
autosomal recessive |
UGT1A1 |
https://ghr.nlm.nih.gov/gene/UGT1A1 |
Crigler Najjar syndrome |
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2012-02 |
2017-12-29 |
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克果納傑氏症 |
newborns worldwide. |
toxic substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is |
familial nonhemolytic unconjugated hyperbilirubinemia |
GTR |
C0010324 |
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produced when red blood cells are broken down. This substance is removed from |
hereditary unconjugated hyperbilirubinemia |
db |
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the body only after it undergoes a chemical reaction in the liver, which |
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GTR |
C2931132 |
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converts the toxic form of bilirubin (called unconjugated bilirubin) to a |
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nontoxic form called conjugated bilirubin. People with Crigler-Najjar syndrome |
GTR |
CN119421 |
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have a buildup of unconjugated bilirubin in their blood (unconjugated |
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hyperbilirubinemia). |
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ICD-10-CM |
E80.5 |
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html:p |
Bilirubin has an orange-yellow tint, and hyperbilirubinemia causes yellowing of |
db |
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the skin and whites of the eyes (jaundice). In Crigler-Najjar syndrome, jaundice |
MeSH |
D003414 |
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is apparent at birth or in infancy. Severe unconjugated hyperbilirubinemia can |
db |
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lead to a condition called kernicterus, which is a form of brain damage caused |
OMIM |
218800 |
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by the accumulation of unconjugated bilirubin in the brain and nerve tissues. |
db |
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Babies with kernicterus are often extremely tired (lethargic) and may have weak |
OMIM |
606785 |
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muscle tone (hypotonia). These babies may experience episodes of increased |
db |
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muscle tone (hypertonia) and arching of their backs. Kernicterus can lead to |
Orphanet |
205 |
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other neurological problems, including involuntary writhing movements of the |
db |
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body (choreoathetosis), hearing problems, or intellectual disability. |
|
Orphanet |
79234 |
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html:p |
Crigler-Najjar syndrome is divided into two types. Type 1 (CN1) is very severe, |
db |
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and affected individuals can die in childhood due to kernicterus, although with |
Orphanet |
79235 |
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proper treatment, they may survive longer. Type 2 (CN2) is less severe. People |
db |
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with CN2 are less likely to develop kernicterus, and most affected individuals |
SNOMED CT |
28259009 |
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survive into adulthood. |
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SNOMED CT |
68067009 |
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db |
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related-gene-list |
|
SNOMED CT |
8933000 |
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Critical congenital heart disease |
https://ghr.nlm.nih.gov/condition/critical-congenital-heart-disease |
Heart defects are the most common type of birth defect, accounting for more |
html:p |
Critical congenital heart disease (CCHD) is a term that refers to a group of |
u |
pattern unknown |
CFC1 |
https://ghr.nlm.nih.gov/gene/CFC1 |
CCHD |
db |
key |
2017-11 |
2017-12-29 |
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重症先天性心脏 |
than 30 percent of all infant deaths due to birth defects. CCHD represents some |
serious heart defects that are present from birth. These abnormalities result |
related-gene |
gene-symbol |
ghr-page |
critical congenital heart defects |
GTR |
C0013481 |
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(heart) |
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of the most serious types of heart defects. About 7,200 newborns, or 18 per |
from problems with the formation of one or more parts of the heart during the |
FOXH1 |
https://ghr.nlm.nih.gov/gene/FOXH1 |
db |
key |
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10,000, in the United States are diagnosed with CCHD each year. |
early stages of embryonic development. CCHD prevents the heart from pumping |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0039685 |
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blood effectively or reduces the amount of oxygen in the blood. As a result, |
GATA4 |
https://ghr.nlm.nih.gov/gene/GATA4 |
db |
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organs and tissues throughout the body do not receive enough oxygen, which can |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0040761 |
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lead to organ damage and life-threatening complications. Individuals with CCHD |
GATA6 |
https://ghr.nlm.nih.gov/gene/GATA6 |
db |
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usually require surgery soon after birth. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0041207 |
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html:p |
Although babies with CCHD may appear healthy for the first few hours or days of |
GDF1 |
https://ghr.nlm.nih.gov/gene/GDF1 |
db |
key |
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life, signs and symptoms soon become apparent. These can include an abnormal |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0152021 |
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heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low |
GJA1 |
https://ghr.nlm.nih.gov/gene/GJA1 |
db |
key |
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blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0152101 |
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a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If |
HAND1 |
https://ghr.nlm.nih.gov/gene/HAND1 |
db |
key |
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untreated, CCHD can lead to shock, coma, and death. However, most people with |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0243002 |
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CCHD now survive past infancy due to improvements in early detection, diagnosis, |
MED13L |
https://ghr.nlm.nih.gov/gene/MED13L |
db |
key |
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and treatment. |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C0344975 |
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html:p |
Some people with treated CCHD have few related health problems later in life. |
NKX2-5 |
https://ghr.nlm.nih.gov/gene/NKX2-5 |
db |
key |
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However, long-term effects of CCHD can include delayed development and reduced |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0344976 |
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stamina during exercise. Adults with these heart defects have an increased risk |
NKX2-6 |
https://ghr.nlm.nih.gov/gene/NKX2-6 |
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of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3151220 |
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premature death. |
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NOTCH1 |
https://ghr.nlm.nih.gov/gene/NOTCH1 |
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html:p |
Each of the heart defects associated with CCHD affects the flow of blood into, |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3151221 |
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out of, or through the heart. Some of the heart defects involve structures |
SMAD6 |
https://ghr.nlm.nih.gov/gene/SMAD6 |
db |
key |
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within the heart itself, such as the two lower chambers of the heart (the |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3280795 |
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ventricles) or the valves that control blood flow through the heart. Others |
ZFPM2 |
https://ghr.nlm.nih.gov/gene/ZFPM2 |
db |
key |
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affect the structure of the large blood vessels leading into and out of the |
|
ICD-10-CM |
Q20.1 |
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heart (including the aorta and pulmonary artery). Still others involve a |
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combination of these structural abnormalities. |
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ICD-10-CM |
Q21.3 |
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html:p |
People with CCHD have one or more specific heart defects. The heart defects |
db |
key |
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classified as CCHD include coarctation of the aorta, double-outlet right |
|
ICD-10-CM |
Q22.0 |
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ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic |
db |
key |
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left heart syndrome, interrupted aortic arch, pulmonary atresia with intact |
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ICD-10-CM |
Q22.4 |
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septum, single ventricle, total anomalous pulmonary venous connection, tetralogy |
db |
key |
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of Fallot, tricuspid atresia, and truncus arteriosus. |
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ICD-10-CM |
Q22.5 |
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db |
key |
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ICD-10-CM |
Q23.4 |
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db |
key |
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ICD-10-CM |
Q25.1 |
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db |
key |
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MeSH |
D006330 |
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db |
key |
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OMIM |
106700 |
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db |
key |
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OMIM |
120000 |
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db |
key |
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OMIM |
178370 |
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db |
key |
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OMIM |
187500 |
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db |
key |
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OMIM |
217095 |
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db |
key |
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OMIM |
224700 |
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db |
key |
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OMIM |
241550 |
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db |
key |
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OMIM |
265150 |
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db |
key |
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OMIM |
605067 |
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db |
key |
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OMIM |
605376 |
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db |
key |
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OMIM |
608808 |
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db |
key |
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OMIM |
613854 |
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db |
key |
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OMIM |
614435 |
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db |
key |
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Orphanet |
1207 |
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db |
key |
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Orphanet |
1208 |
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db |
key |
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Orphanet |
1209 |
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db |
key |
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Orphanet |
2248 |
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db |
key |
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Orphanet |
3303 |
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db |
key |
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Orphanet |
3384 |
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db |
key |
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SNOMED CT |
17394001 |
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db |
key |
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SNOMED CT |
204296002 |
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db |
key |
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SNOMED CT |
204354004 |
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db |
key |
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SNOMED CT |
204357006 |
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db |
key |
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SNOMED CT |
218728005 |
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db |
key |
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SNOMED CT |
253443005 |
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db |
key |
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SNOMED CT |
253590009 |
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db |
key |
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SNOMED CT |
253591008 |
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db |
key |
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SNOMED CT |
26146002 |
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db |
key |
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SNOMED CT |
39905002 |
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db |
key |
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SNOMED CT |
399228007 |
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db |
key |
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SNOMED CT |
443379009 |
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db |
key |
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SNOMED CT |
447832002 |
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db |
key |
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SNOMED CT |
447914003 |
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db |
key |
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SNOMED CT |
448599000 |
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db |
key |
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SNOMED CT |
448794008 |
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db |
key |
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SNOMED CT |
45503006 |
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db |
key |
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SNOMED CT |
61959006 |
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db |
key |
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SNOMED CT |
62067003 |
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db |
key |
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SNOMED CT |
63042009 |
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db |
key |
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SNOMED CT |
719955006 |
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db |
key |
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SNOMED CT |
7305005 |
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db |
key |
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SNOMED CT |
7484005 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
86299006 |
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Crohn disease |
https://ghr.nlm.nih.gov/condition/crohn-disease |
Crohn disease is most common in western Europe and North America, where it |
html:p |
Crohn disease is a complex, long-lasting (chronic) disorder that primarily |
u |
pattern unknown |
ATG16L1 |
https://ghr.nlm.nih.gov/gene/ATG16L1 |
colitis, granulomatous |
db |
key |
2017-12 |
2017-12-29 |
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|
克罗恩病 |
|
has a prevalence of 100 to 300 per 100,000 people. More than half a million |
affects the digestive system. This condition involves an abnormal immune |
related-gene |
gene-symbol |
ghr-page |
Crohn's disease |
GTR |
C0678202 |
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|
克隆氏症 |
|
Americans are currently affected by this disorder. Crohn disease occurs more |
response that causes excess inflammation. It most often affects the intestinal |
HLA-DRB1 |
https://ghr.nlm.nih.gov/gene/HLA-DRB1 |
Crohn's enteritis |
db |
key |
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|
(Digestive) |
often in people of northern European ancestry and those of eastern and central |
walls, particularly in the lower part of the small intestine (the ileum) and |
related-gene |
gene-symbol |
ghr-page |
enteritis, granulomatous |
GTR |
CN043071 |
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European (Ashkenazi) Jewish descent than among people of other ethnic |
portions of the large intestine (the colon). However, inflammation can occur in |
IL10 |
https://ghr.nlm.nih.gov/gene/IL10 |
enteritis, regional |
db |
key |
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|
backgrounds. For reasons that are not clear, the prevalence of Crohn disease has |
any part of the digestive system, from the mouth to the anus. The inflamed |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
K50 |
|
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|
been increasing in the United States and some other parts of the world. |
tissues become thick and swollen, and the inner surfaces of the digestive system |
IL12B |
https://ghr.nlm.nih.gov/gene/IL12B |
db |
key |
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may develop open sores (ulcers). |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
K50.0 |
|
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html:p |
Crohn disease most commonly appears in a person's late teens or twenties, |
IL23R |
https://ghr.nlm.nih.gov/gene/IL23R |
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key |
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although the disease can begin at any age. Signs and symptoms tend to flare up |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
K50.00 |
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multiple times throughout life. The most common features of this condition are |
IRGM |
https://ghr.nlm.nih.gov/gene/IRGM |
db |
key |
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persistent diarrhea, abdominal pain and cramping, loss of appetite, weight loss, |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
K50.01 |
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and fever. Some people with Crohn disease have blood in the stool from inflamed |
JAK2 |
https://ghr.nlm.nih.gov/gene/JAK2 |
db |
key |
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tissues in the intestine; over time, chronic bleeding can lead to a low number |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
K50.1 |
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of red blood cells (anemia). In some cases, Crohn disease can also cause |
LRRK2 |
https://ghr.nlm.nih.gov/gene/LRRK2 |
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key |
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inflammation affecting the joints, eyes, or skin. |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
K50.8 |
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html:p |
Intestinal blockage is a common complication of Crohn disease. Blockages are |
MUC2 |
https://ghr.nlm.nih.gov/gene/MUC2 |
db |
key |
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caused by swelling or a buildup of scar tissue in the intestinal walls. Some |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
K50.9 |
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affected individuals also develop fistulae, which are abnormal connections |
NOD2 |
https://ghr.nlm.nih.gov/gene/NOD2 |
db |
key |
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between the intestine and other tissues. Fistulae occur when ulcers break |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
K50.10 |
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through the intestinal wall and passages form between loops of the intestine or |
SLC22A4 |
https://ghr.nlm.nih.gov/gene/SLC22A4 |
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key |
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between the intestine and nearby structures (such as the bladder, vagina, or |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
K50.011 |
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skin). |
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SLC22A5 |
https://ghr.nlm.nih.gov/gene/SLC22A5 |
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key |
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html:p |
Crohn disease is one common form of inflammatory bowel disease (IBD). Another |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
K50.11 |
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type of IBD, ulcerative colitis, also causes chronic inflammation of the |
STAT3 |
https://ghr.nlm.nih.gov/gene/STAT3 |
db |
key |
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intestinal lining. Unlike Crohn disease, which can affect any part of the |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
K50.012 |
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digestive system, ulcerative colitis typically causes inflammation only in the |
TYK2 |
https://ghr.nlm.nih.gov/gene/TYK2 |
db |
key |
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colon. |
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ICD-10-CM |
K50.013 |
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ICD-10-CM |
K50.014 |
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ICD-10-CM |
K50.018 |
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ICD-10-CM |
K50.019 |
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ICD-10-CM |
K50.80 |
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ICD-10-CM |
K50.81 |
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ICD-10-CM |
K50.90 |
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ICD-10-CM |
K50.91 |
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db |
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ICD-10-CM |
K50.111 |
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ICD-10-CM |
K50.112 |
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ICD-10-CM |
K50.113 |
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ICD-10-CM |
K50.114 |
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ICD-10-CM |
K50.118 |
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ICD-10-CM |
K50.119 |
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ICD-10-CM |
K50.811 |
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ICD-10-CM |
K50.812 |
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ICD-10-CM |
K50.813 |
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db |
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ICD-10-CM |
K50.814 |
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ICD-10-CM |
K50.818 |
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db |
key |
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ICD-10-CM |
K50.819 |
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db |
key |
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ICD-10-CM |
K50.911 |
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db |
key |
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ICD-10-CM |
K50.912 |
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db |
key |
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ICD-10-CM |
K50.913 |
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db |
key |
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ICD-10-CM |
K50.914 |
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db |
key |
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ICD-10-CM |
K50.918 |
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db |
key |
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ICD-10-CM |
K50.919 |
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db |
key |
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MeSH |
D003424 |
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db |
key |
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OMIM |
191390 |
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db |
key |
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OMIM |
266600 |
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db |
key |
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OMIM |
601458 |
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db |
key |
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OMIM |
604519 |
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db |
key |
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OMIM |
605225 |
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db |
key |
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OMIM |
606348 |
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db |
key |
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OMIM |
606668 |
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db |
key |
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OMIM |
606674 |
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db |
key |
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|
OMIM |
606675 |
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db |
key |
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|
OMIM |
608448 |
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db |
key |
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OMIM |
611081 |
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db |
key |
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|
OMIM |
612241 |
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db |
key |
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|
OMIM |
612244 |
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db |
key |
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|
OMIM |
612245 |
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db |
key |
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|
OMIM |
612255 |
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db |
key |
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|
OMIM |
612259 |
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db |
key |
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|
OMIM |
612261 |
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db |
key |
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|
|
OMIM |
612262 |
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db |
key |
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|
OMIM |
612278 |
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db |
key |
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|
OMIM |
612288 |
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db |
key |
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|
OMIM |
612354 |
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db |
key |
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|
OMIM |
612380 |
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db |
key |
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OMIM |
612381 |
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db |
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OMIM |
612566 |
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db |
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OMIM |
612567 |
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db |
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OMIM |
612796 |
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db |
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OMIM |
613148 |
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db |
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Orphanet |
206 |
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db |
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SNOMED CT |
34000006 |
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SNOMED CT |
38106008 |
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SNOMED CT |
50440006 |
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related-gene-list |
|
SNOMED CT |
52457000 |
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Crouzon syndrome |
https://ghr.nlm.nih.gov/condition/crouzon-syndrome |
Crouzon syndrome is seen in about 16 per million newborns. It is the most |
html:p |
Crouzon syndrome is a genetic disorder characterized by the premature fusion of |
ad |
autosomal dominant |
FGFR2 |
https://ghr.nlm.nih.gov/gene/FGFR2 |
Craniofacial dysarthrosis |
db |
key |
2008-02 |
2017-12-29 |
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克魯松氏症候群 |
common craniosynostosis syndrome. |
certain skull bones (craniosynostosis). This early fusion prevents the skull |
Craniofacial Dysostosis |
GTR |
C0010273 |
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from growing normally and affects the shape of the head and face. |
Craniofacial dysostosis syndrome |
db |
key |
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html:p |
Many features of Crouzon syndrome result from the premature fusion of the skull |
Craniofacial dysostosis, type 1; CFD1 |
GeneReviews |
craniosynostosis |
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bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision |
Crouzon craniofacial dysostosis |
db |
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problems caused by shallow eye sockets; eyes that do not point in the same |
Crouzon's Disease |
ICD-10-CM |
Q75.1 |
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direction (strabismus); a beaked nose; and an underdeveloped upper jaw. In |
Crouzons Disease |
db |
key |
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addition, people with Crouzon syndrome may have dental problems and hearing |
MeSH |
D003394 |
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loss, which is sometimes accompanied by narrow ear canals. A few people with |
db |
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Crouzon syndrome have an opening in the lip and the roof of the mouth (cleft lip |
OMIM |
123500 |
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and palate). The severity of these signs and symptoms varies among affected |
db |
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people. People with Crouzon syndrome are usually of normal intelligence. |
Orphanet |
207 |
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db |
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related-gene-list |
|
SNOMED CT |
28861008 |
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Crouzon syndrome with acanthosis nigricans |
https://ghr.nlm.nih.gov/condition/crouzon-syndrome-with-acanthosis-nigricans |
Crouzon syndrome with acanthosis nigricans is rare; this condition occurs |
html:p |
Crouzon syndrome with acanthosis nigricans is a disorder characterized by the |
ad |
autosomal dominant |
FGFR3 |
https://ghr.nlm.nih.gov/gene/FGFR3 |
CAN |
db |
key |
2017-03 |
2017-12-29 |
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in about 1 person per million. For unknown reasons, it affects females more than |
premature joining of certain bones of the skull (craniosynostosis) during |
Crouzonodermoskeletal syndrome |
GTR |
C2677099 |
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twice as often as males. |
development and a skin condition called acanthosis nigricans. |
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db |
key |
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html:p |
The signs and symptoms of Crouzon syndrome with acanthosis nigricans overlap |
GeneReviews |
craniosynostosis |
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with those of a similar condition called Crouzon syndrome. Both conditions |
db |
key |
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involve premature fusion of the skull bones, which affects the shape of the head |
ICD-10-CM |
Q75.1 |
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and face. Other common features of both conditions include wide-set, bulging |
db |
key |
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eyes due to shallow eye sockets; eyes that do not point in the same direction |
MeSH |
D000052 |
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(strabismus); a small, beaked nose; and a flat or sunken appearance of the |
db |
key |
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middle of the face (midface hypoplasia). Less common features that can occur in |
MeSH |
D003394 |
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either disorder include an opening in the roof of the mouth (cleft palate), |
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db |
key |
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dental problems, or hearing loss. People with Crouzon syndrome or Crouzon |
MeSH |
D003398 |
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syndrome with acanthosis nigricans usually have normal intelligence. |
|
db |
key |
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html:p |
Crouzon syndrome with acanthosis nigricans is distinguished from Crouzon |
OMIM |
612247 |
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syndrome by several features, including skin abnormalities. Acanthosis nigricans |
db |
key |
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is a skin condition characterized by thick, dark, velvety skin in body folds |
Orphanet |
93262 |
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and creases, including the neck and underarms. People with Crouzon syndrome with |
db |
key |
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acanthosis nigricans may also have other skin abnormalities; for example, scars |
SNOMED CT |
702361006 |
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in the thick, dark areas of skin are flat and pale. These scars are usually |
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from surgical procedures that are commonly needed in affected individuals. |
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Additionally, in some people with the condition, one or both nasal passages are |
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narrowed (choanal stenosis) or completely blocked (choanal atresia), which can |
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cause difficulty breathing. A buildup of fluid in the brain (hydrocephalus) can |
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also occur. Nasal passage abnormalities and hydrocephalus are rare in Crouzon |
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syndrome. Less common features of Crouzon syndrome with acanthosis nigricans |
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include subtle changes in the bones of the spine (vertebrae), abnormalities of |
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the finger bones, and noncancerous growths in the jaw called cementomas. |
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related-gene-list |
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Cryptogenic cirrhosis |
https://ghr.nlm.nih.gov/condition/cryptogenic-cirrhosis |
Cirrhosis affects more than 600,000 people in the United States; |
html:p |
Cryptogenic cirrhosis is a condition that impairs liver function. People with |
ad |
autosomal dominant |
KRT8 |
https://ghr.nlm.nih.gov/gene/KRT8 |
cirrhosis, cryptogenic |
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2016-03 |
2017-12-29 |
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隐源性肝硬化 |
cryptogenic cirrhosis likely accounts for 5 to 30 percent of these cases. |
this condition develop irreversible liver disease caused by scarring of the |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0267809 |
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隱源性肝硬化 |
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liver (cirrhosis), typically in mid- to late adulthood. |
n |
not inherited |
KRT18 |
https://ghr.nlm.nih.gov/gene/KRT18 |
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(Liver) |
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The liver is a part of the digestive system that helps break down food, store |
code |
memo |
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GTR |
C1861556 |
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energy, and remove waste products, including toxins. Minor damage to the liver |
u |
pattern unknown |
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can be repaired by the body. However, severe or long-term damage can lead to the |
ICD-10-CM |
K74.69 |
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replacement of normal liver tissue with scar tissue. |
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In the early stages of cryptogenic cirrhosis, people often have no symptoms |
MeSH |
D008103 |
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because the liver has enough normal tissue to function. Signs and symptoms |
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become apparent as more of the liver is replaced by scar tissue. Affected |
OMIM |
215600 |
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individuals can experience fatigue, weakness, loss of appetite, weight loss, |
db |
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nausea, swelling (edema), enlarged blood vessels, and yellowing of the skin and |
SNOMED CT |
89580002 |
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whites of the eyes (jaundice). |
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html:p |
People with cryptogenic cirrhosis may develop high blood pressure in the vein |
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that supplies blood to the liver (portal hypertension). Cryptogenic cirrhosis |
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can lead to type 2 diabetes, although the mechanism is unclear. Some people with |
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cryptogenic cirrhosis develop cancer of the liver (hepatocellular cancer). |
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synonym-list |
db-key-list |
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Cushing disease |
https://ghr.nlm.nih.gov/condition/cushing-disease |
Cushing disease is estimated to occur in 10 to 15 per million people |
html:p |
Cushing disease is caused by elevated levels of a hormone called cortisol, which |
u |
pattern unknown |
synonym |
pituitary ACTH hypersecretion |
key |
2017-12-29 |
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庫興氏症候群 |
worldwide. For reasons that are unclear, Cushing disease affects females more |
leads to a wide variety of signs and symptoms. This condition usually occurs in |
synonym |
pituitary Cushing syndrome |
db-key |
C0221406 |
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often than males. |
adults between the ages of 20 and 50; however, children may also be affected. |
synonym |
pituitary-dependant Cushing syndrome |
key |
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The first sign of this condition is usually weight gain around the trunk and in |
synonym |
pituitary-dependant hypercortisolism |
db-key |
E24.0 |
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the face. Affected individuals may get stretch marks (striae) on their thighs |
synonym |
pituitary-dependant hypercortisolism disorder |
key |
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and abdomen and bruise easily. Individuals with Cushing disease can develop a |
db-key |
D047748 |
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hump on their upper back caused by abnormal deposits of fat. People with this |
key |
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condition can have muscle weakness, severe tiredness, and progressively thin and |
db-key |
219090 |
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brittle bones that are prone to fracture (osteoporosis). They also have a |
key |
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weakened immune system and are at an increased risk of infections. Cushing |
db-key |
96253 |
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disease can cause mood disorders such as anxiety, irritability, and depression. |
key |
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This condition can also affect a person's concentration and memory. People with |
db-key |
190502001 |
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Cushing disease have an increased chance of developing high blood pressure |
key |
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(hypertension) and diabetes. Women with Cushing disease may experience irregular |
db-key |
237734007 |
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menstruation and have excessive hair growth (hirsutism) on their face, abdomen, |
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and legs. Men with Cushing disease may have erectile dysfunction. Children with |
88803002 |
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Cushing disease typically experience slow growth. |
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related-gene-list |
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Cutis laxa |
https://ghr.nlm.nih.gov/condition/cutis-laxa |
Cutis laxa is a rare disorder. About 200 affected families worldwide have |
html:p |
Cutis laxa is a disorder of connective tissue, which is the tissue that forms |
ad |
autosomal dominant |
ALDH18A1 |
https://ghr.nlm.nih.gov/gene/ALDH18A1 |
dermatolysis |
db |
key |
2017-03 |
2017-12-29 |
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皮膚鬆弛 |
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been reported. |
the body's supportive framework. Connective tissue provides structure and |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
dermatomegaly |
GTR |
C0268350 |
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(Connective tissue) |
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strength to the muscles, joints, organs, and skin. |
ar |
autosomal recessive |
ATP6V0A2 |
https://ghr.nlm.nih.gov/gene/ATP6V0A2 |
db |
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html:p |
The term "cutis laxa" is Latin for loose or lax skin, and this condition is |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0268351 |
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characterized by skin that is sagging and not stretchy (inelastic). The skin |
xr |
X-linked recessive |
ATP7A |
https://ghr.nlm.nih.gov/gene/ATP7A |
db |
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often hangs in loose folds, causing the face and other parts of the body to have |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0268353 |
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a droopy appearance. Extremely wrinkled skin may be particularly noticeable on |
EFEMP2 |
https://ghr.nlm.nih.gov/gene/EFEMP2 |
db |
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the neck and in the armpits and groin. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0268355 |
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html:p |
Cutis laxa can also affect connective tissue in other parts of the body, |
ELN |
https://ghr.nlm.nih.gov/gene/ELN |
db |
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including the heart, blood vessels, joints, intestines, and lungs. The disorder |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
cutis-laxa |
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can cause heart problems and abnormal narrowing, bulging, or tearing of critical |
FBLN5 |
https://ghr.nlm.nih.gov/gene/FBLN5 |
db |
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arteries. Affected individuals may have soft out-pouchings in the lower abdomen |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
efemp2-cutis-laxa |
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(inguinal hernia) or around the belly button (umbilical hernia). Pouches called |
LTBP4 |
https://ghr.nlm.nih.gov/gene/LTBP4 |
db |
key |
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diverticula can also develop in the walls of certain organs, such as the |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
fbln5-cutis-laxa |
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bladder and intestines. During childhood, some people with cutis laxa develop a |
PYCR1 |
https://ghr.nlm.nih.gov/gene/PYCR1 |
db |
key |
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lung disease called emphysema, which can make it difficult to breathe. Depending |
GeneReviews |
menkes |
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on which organs and tissues are affected, the signs and symptoms of cutis laxa |
db |
key |
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can range from mild to life-threatening. |
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MeSH |
D003483 |
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html:p |
Researchers have described several different forms of cutis laxa. The forms are |
db |
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often distinguished by their pattern of inheritance: autosomal dominant, |
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OMIM |
123700 |
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autosomal recessive, or X-linked. In general, the autosomal recessive forms of |
db |
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cutis laxa tend to be more severe than the autosomal dominant forms. In addition |
OMIM |
219100 |
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to the features described above, some people with autosomal recessive cutis |
db |
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laxa have delayed development, intellectual disability, seizures, and problems |
OMIM |
219150 |
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with movement that can worsen over time. |
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db |
key |
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html:p |
The X-linked form of cutis laxa is often called occipital horn syndrome. This |
OMIM |
219200 |
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form of the disorder is considered a mild type of Menkes syndrome, which is a |
db |
key |
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condition that affects copper levels in the body. In addition to sagging and |
OMIM |
304150 |
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inelastic skin, occipital horn syndrome is characterized by wedge-shaped calcium |
db |
key |
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deposits in a bone at the base of the skull (the occipital bone), coarse hair, |
OMIM |
612940 |
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and loose joints. |
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db |
key |
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OMIM |
613177 |
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db |
key |
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OMIM |
614100 |
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db |
key |
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OMIM |
614434 |
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db |
key |
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OMIM |
614437 |
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db |
key |
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OMIM |
614438 |
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db |
key |
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OMIM |
616603 |
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db |
key |
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Orphanet |
209 |
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db |
key |
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Orphanet |
228285 |
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db |
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SNOMED CT |
58588007 |
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db |
key |
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SNOMED CT |
59399004 |
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db |
key |
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SNOMED CT |
59451000 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
73856006 |
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Cyclic neutropenia |
https://ghr.nlm.nih.gov/condition/cyclic-neutropenia |
Cyclic neutropenia is a rare condition and is estimated to occur in 1 in 1 |
html:p |
Cyclic neutropenia is a disorder that causes frequent infections and other |
ad |
autosomal dominant |
ELANE |
https://ghr.nlm.nih.gov/gene/ELANE |
cyclic hematopoesis |
db |
key |
2017-09 |
2017-12-29 |
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週期性嗜中性白血球減少症 |
million individuals worldwide. |
health problems in affected individuals. People with this condition have |
cyclic leucopenia |
GTR |
C0221023 |
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recurrent episodes of neutropenia during which there is a shortage (deficiency) |
periodic neutropenia |
db |
key |
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of neutrophils. Neutrophils are a type of white blood cell that plays a role in |
GeneReviews |
cyclic-n |
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inflammation and in fighting infection. The episodes of neutropenia are apparent |
db |
key |
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at birth or soon afterward. For most affected individuals, neutropenia recurs |
ICD-10-CM |
D70.4 |
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every 21 days and lasts about 3 to 5 days. |
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db |
key |
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html:p |
Neutropenia makes it more difficult for the body to fight off pathogens such as |
MeSH |
D009503 |
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bacteria and viruses, so people with cyclic neutropenia typically develop |
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db |
key |
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recurrent infections of the sinuses, respiratory tract, and skin. Additionally, |
OMIM |
162800 |
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people with this condition often develop open sores (ulcers) in the mouth and |
db |
key |
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colon, inflammation of the throat (pharyngitis) and gums (gingivitis), recurrent |
Orphanet |
2686 |
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fever, or abdominal pain. People with cyclic neutropenia have these health |
db |
key |
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problems only during episodes of neutropenia. At times when their neutrophil |
SNOMED CT |
191347008 |
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levels are normal, they are not at an increased risk of infection and |
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inflammation. |
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related-gene-list |
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Cyclic vomiting syndrome |
https://ghr.nlm.nih.gov/condition/cyclic-vomiting-syndrome |
The exact prevalence of cyclic vomiting syndrome is unknown; estimates |
html:p |
Cyclic vomiting syndrome is a disorder that causes recurrent episodes of nausea, |
m |
mitochondrial |
mitochondrial DNA |
https://ghr.nlm.nih.gov/mitochondrial-dna |
abdominal migraine |
db |
key |
2014-03 |
2017-12-29 |
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週期性嘔吐症候 |
range from 4 to 2,000 per 100,000 children. The condition is diagnosed less |
vomiting, and tiredness (lethargy). This condition is diagnosed most often in |
code |
memo |
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CVS |
GTR |
C0152164 |
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frequently in adults, although recent studies suggest that the condition may |
young children, but it can affect people of any age. |
u |
pattern unknown |
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cyclical vomiting |
db |
key |
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begin in adulthood as commonly as it begins in childhood. |
html:p |
The episodes of nausea, vomiting, and lethargy last anywhere from an hour to 10 |
cyclical vomiting syndrome |
ICD-10-CM |
G43.A |
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days. An affected person may vomit several times per hour, potentially leading |
periodic vomiting |
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to a dangerous loss of fluids (dehydration). Additional symptoms can include |
ICD-10-CM |
G43.A0 |
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unusually pale skin (pallor), abdominal pain, diarrhea, headache, fever, and an |
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increased sensitivity to light (photophobia) or to sound (phonophobia). In most |
ICD-10-CM |
G43.A1 |
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affected people, the signs and symptoms of each attack are quite similar. These |
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attacks can be debilitating, making it difficult for an affected person to go to |
MeSH |
D014839 |
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work or school. |
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Episodes of nausea, vomiting, and lethargy can occur regularly or apparently at |
OMIM |
500007 |
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random, or can be triggered by a variety of factors. The most common triggers |
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are emotional excitement and infections. Other triggers can include periods |
SNOMED CT |
18773000 |
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without eating (fasting), temperature extremes, lack of sleep, overexertion, |
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allergies, ingesting certain foods or alcohol, and menstruation. |
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html:p |
If the condition is not treated, episodes usually occur four to 12 times per |
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year. Between attacks, vomiting is absent, and nausea is either absent or much |
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reduced. However, many affected people experience other symptoms during and |
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between episodes, including pain, lethargy, digestive disorders such as |
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gastroesophageal reflux and irritable bowel syndrome, and fainting spells |
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(syncope). People with cyclic vomiting syndrome are also more likely than people |
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without the disorder to experience depression, anxiety, and panic disorder. It |
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is unclear whether these health conditions are directly related to nausea and |
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vomiting. |
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html:p |
Cyclic vomiting syndrome is often considered to be a variant of migraines, which |
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are severe headaches often associated with pain, nausea, vomiting, and extreme |
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sensitivity to light and sound. Cyclic vomiting syndrome is likely the same as |
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or closely related to a condition called abdominal migraine, which is |
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characterized by attacks of stomach pain and cramping. Attacks of nausea, |
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vomiting, or abdominal pain in childhood may be replaced by migraine headaches |
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as an affected person gets older. Many people with cyclic vomiting syndrome or |
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abdominal migraine have a family history of migraines. |
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html:p |
Most people with cyclic vomiting syndrome have normal intelligence, although |
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some affected people have developmental delay or intellectual disability. Autism |
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spectrum disorders, which affect communication and social interaction, have |
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also been associated with cyclic vomiting syndrome. Additionally, muscle |
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weakness (myopathy) and seizures are possible. People with any of these |
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additional features are said to have cyclic vomiting syndrome plus. |
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related-gene-list |
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Cystic fibrosis |
https://ghr.nlm.nih.gov/condition/cystic-fibrosis |
Cystic fibrosis is a common genetic disease within the white population in |
html:p |
Cystic fibrosis is an inherited disease characterized by the buildup of thick, |
ar |
autosomal recessive |
CFTR |
https://ghr.nlm.nih.gov/gene/CFTR |
CF |
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2012-08 |
2017-12-29 |
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囊性纤维化症 |
the United States. The disease occurs in 1 in 2,500 to 3,500 white newborns. |
sticky mucus that can damage many of the body's organs. The disorder's most |
cystic fibrosis of pancreas |
GTR |
C0010674 |
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Cystic fibrosis is less common in other ethnic groups, affecting about 1 in |
common signs and symptoms include progressive damage to the respiratory system |
fibrocystic disease of pancreas |
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17,000 African Americans and 1 in 31,000 Asian Americans. |
and chronic digestive system problems. The features of the disorder and their |
mucoviscidosis |
GeneReviews |
cf |
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severity varies among affected individuals. |
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html:p |
Mucus is a slippery substance that lubricates and protects the linings of the |
ICD-10-CM |
E84 |
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airways, digestive system, reproductive system, and other organs and tissues. |
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In people with cystic fibrosis, the body produces mucus that is abnormally thick |
ICD-10-CM |
E84.0 |
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and sticky. This abnormal mucus can clog the airways, leading to severe |
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problems with breathing and bacterial infections in the lungs. These infections |
ICD-10-CM |
E84.1 |
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cause chronic coughing, wheezing, and inflammation. Over time, mucus buildup and |
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infections result in permanent lung damage, including the formation of scar |
ICD-10-CM |
E84.8 |
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tissue (fibrosis) and cysts in the lungs. |
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html:p |
Most people with cystic fibrosis also have digestive problems. Some affected |
ICD-10-CM |
E84.9 |
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babies have meconium ileus, a blockage of the intestine that occurs shortly |
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after birth. Other digestive problems result from a buildup of thick, sticky |
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ICD-10-CM |
E84.11 |
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mucus in the pancreas. The pancreas is an organ that produces insulin (a hormone |
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that helps control blood sugar levels). It also makes enzymes that help digest |
ICD-10-CM |
E84.19 |
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food. In people with cystic fibrosis, mucus blocks the ducts of the pancreas, |
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reducing the production of insulin and preventing digestive enzymes from |
ICD-10-CM |
Z14.1 |
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reaching the intestines to aid digestion. Problems with digestion can lead to |
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diarrhea, malnutrition, poor growth, and weight loss. In adolescence or |
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MeSH |
D003550 |
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adulthood, a shortage of insulin can cause a form of diabetes known as cystic |
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fibrosis-related diabetes mellitus (CFRDM). |
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OMIM |
219700 |
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html:p |
Cystic fibrosis used to be considered a fatal disease of childhood. With |
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improved treatments and better ways to manage the disease, many people with |
Orphanet |
586 |
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cystic fibrosis now live well into adulthood. Adults with cystic fibrosis |
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experience health problems affecting the respiratory, digestive, and |
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SNOMED CT |
190905008 |
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reproductive systems. Most men with cystic fibrosis have congenital bilateral |
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absence of the vas deferens (CBAVD), a condition in which the tubes that carry |
SNOMED CT |
235978006 |
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sperm (the vas deferens) are blocked by mucus and do not develop properly. Men |
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with CBAVD are unable to father children (infertile) unless they undergo |
SNOMED CT |
86555001 |
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fertility treatment. Women with cystic fibrosis may experience complications in |
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pregnancy. |
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related-gene-list |
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Cystinosis |
https://ghr.nlm.nih.gov/condition/cystinosis |
Cystinosis affects approximately 1 in 100,000 to 200,000 newborns |
html:p |
Cystinosis is a condition characterized by accumulation of the amino acid |
ar |
autosomal recessive |
CTNS |
https://ghr.nlm.nih.gov/gene/CTNS |
cystine storage disease |
db |
key |
2013-05 |
2017-12-29 |
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胱胺酸症 |
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worldwide. The incidence is higher in the province of Brittany, France, where |
cystine (a building block of proteins) within cells. Excess cystine damages |
GTR |
C0010690 |
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the disorder affects 1 in 26,000 individuals. |
cells and often forms crystals that can build up and cause problems in many |
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organs and tissues. The kidneys and eyes are especially vulnerable to damage; |
GTR |
C0268626 |
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the muscles, thyroid, pancreas, and testes may also be affected. |
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html:p |
There are three distinct types of cystinosis. In order of decreasing severity, |
GTR |
C1857413 |
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they are nephropathic cystinosis, intermediate cystinosis, and non-nephropathic |
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or ocular cystinosis. |
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GeneReviews |
ctns |
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html:p |
Nephropathic cystinosis begins in infancy, causing poor growth and a particular |
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type of kidney damage (renal Fanconi syndrome) in which certain molecules that |
ICD-10-CM |
E72.04 |
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should be reabsorbed into the bloodstream are instead eliminated in the urine. |
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The kidney problems lead to the loss of important minerals, salts, fluids, and |
MeSH |
D003554 |
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many other nutrients. The loss of nutrients impairs growth and may result in |
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soft, bowed bones (hypophosphatemic rickets), especially in the legs. The |
OMIM |
219750 |
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nutrient imbalances in the body lead to increased urination, thirst, |
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dehydration, and abnormally acidic blood (acidosis). By about the age of 2, |
OMIM |
219800 |
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cystine crystals may be present in the clear covering of the eye (cornea). The |
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buildup of these crystals in the eye causes pain and an increased sensitivity to |
OMIM |
219900 |
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light (photophobia). Untreated children will experience complete kidney |
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failure by about the age of 10. Other signs and symptoms that may occur in |
Orphanet |
213 |
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untreated people, especially after adolescence, include muscle deterioration, |
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blindness, inability to swallow, diabetes, thyroid and nervous system problems, |
SNOMED CT |
190681003 |
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and an inability to father children (infertility) in affected men. |
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html:p |
The signs and symptoms of intermediate cystinosis are the same as nephropathic |
SNOMED CT |
22830006 |
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cystinosis, but they occur at a later age. Intermediate cystinosis typically |
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becomes apparent in affected individuals in adolescence. Malfunctioning kidneys |
SNOMED CT |
236466005 |
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and corneal crystals are the main initial features of this disorder. If |
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intermediate cystinosis is left untreated, complete kidney failure will occur, |
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but usually not until the late teens to mid-twenties. |
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html:p |
People with non-nephropathic or ocular cystinosis typically experience |
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photophobia due to cystine crystals in the cornea, but usually do not develop |
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kidney malfunction or most of the other signs and symptoms of cystinosis. Due to |
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the absence of severe symptoms, the age at which this form of cystinosis is |
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diagnosed varies widely. |
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related-gene-list |
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Cystinuria |
https://ghr.nlm.nih.gov/condition/cystinuria |
Cystinuria affects approximately 1 in 10,000 people. |
html:p |
Cystinuria is a condition characterized by the buildup of the amino acid |
ar |
autosomal recessive |
SLC3A1 |
https://ghr.nlm.nih.gov/gene/SLC3A1 |
CSNU |
db |
key |
2014-06 |
2017-12-29 |
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胱氨酸尿症 |
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cystine, a building block of most proteins, in the kidneys and bladder. As the |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0010691 |
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kidneys filter blood to create urine, cystine is normally absorbed back into the |
SLC7A9 |
https://ghr.nlm.nih.gov/gene/SLC7A9 |
db |
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bloodstream. People with cystinuria cannot properly reabsorb cystine into |
ICD-10-CM |
E72.01 |
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their bloodstream, so the amino acid accumulates in their urine. |
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html:p |
As urine becomes more concentrated in the kidneys, the excess cystine forms |
MeSH |
D003555 |
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crystals. Larger crystals become stones that may lodge in the kidneys or in the |
db |
key |
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bladder. Sometimes cystine crystals combine with calcium molecules in the |
OMIM |
220100 |
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kidneys to form large stones. These crystals and stones can create blockages in |
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the urinary tract and reduce the ability of the kidneys to eliminate waste |
|
Orphanet |
214 |
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through urine. The stones also provide sites where bacteria may cause |
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infections. |
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SNOMED CT |
85020001 |
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inheritance-pattern-list |
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Cytochrome c oxidase deficiency |
https://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency |
In Eastern Europe, cytochrome c oxidase deficiency is estimated to occur in |
html:p |
Cytochrome c oxidase deficiency is a genetic condition that can affect several parts of the body, |
ar |
autosomal recessive |
gene-symbol |
synonym |
complex IV deficiency |
db-key |
db |
key |
2012-10 |
2017-12-29 |
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细胞色素C氧化酶缺乏症 |
1 in 35,000 individuals. The prevalence of this condition outside this region |
including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. |
inheritance-pattern |
code |
memo |
COA5 |
synonym |
COX deficiency |
GTR |
C0268237 |
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is unknown. |
Signs and symptoms of cytochrome c oxidase deficiency usually begin before age 2 but can appear later in mildly affected individuals. |
oxidase deficiency usually begin before age 2 but can appear later in mildly |
m |
mitochondrial |
gene-symbol |
synonym |
cytochrome-c oxidase deficiency |
db-key |
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COX6B1 |
synonym |
mitochondrial complex IV deficiency |
GTR |
C1858424 |
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html:p |
The severity of cytochrome c oxidase deficiency varies widely |
gene-symbol |
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among affected individuals, even among those in the same family. |
COX10 |
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MeSH |
D030401 |
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People who are mildly affected tend to have muscle weakness (myopathy) |
gene-symbol |
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and poor muscle tone (hypotonia) with no other related health problems. |
COX14 |
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OMIM |
220110 |
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More severely affected people have problems in multiple body systems, |
gene-symbol |
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often including severe brain dysfunction (encephalomyopathy). |
COX15 |
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OMIM |
604377 |
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Approximately one-quarter of individuals with cytochrome c oxidase |
gene-symbol |
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db-key |
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key |
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deficiency have a type of heart disease that enlarges and weakens the heart |
FASTKD2 |
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Orphanet |
1561 |
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muscle (hypertrophic cardiomyopathy). Another possible feature of this condition |
gene-symbol |
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db-key |
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is an enlarged liver (hepatomegaly), which may lead to liver failure. |
LRPPRC |
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Orphanet |
254905 |
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html:p |
Most individuals with cytochrome c oxidase deficiency have a buildup of a chemical |
gene-symbol |
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db-key |
db |
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called lactic acid in the body (lactic acidosis), which can cause nausea and an |
MT-CO1 |
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SNOMED CT |
67434000 |
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irregular heart rate, and can be life-threatening. |
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gene-symbol |
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MT-CO2 |
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Many people with cytochrome c oxidase deficiency have a specific |
gene-symbol |
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html:p |
group of features known as Leigh syndrome. The signs and symptoms |
MT-CO3 |
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of Leigh syndrome include loss of mental function, movement problems, |
gene-symbol |
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hypertrophic cardiomyopathy, eating difficulties, and brain abnormalities. |
SCO1 |
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Cytochrome c oxidase deficiency is one of the many causes of Leigh syndrome. |
gene-symbol |
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SCO2 |
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gene-symbol |
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SURF1 |
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gene-symbol |
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TACO1 |
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name |
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related-gene-list |
mitochondrial DNA |
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Cytochrome P450 oxidoreductase deficiency |
https://ghr.nlm.nih.gov/condition/cytochrome-p450-oxidoreductase-deficiency |
The prevalence of cytochrome P450 oxidoreductase deficiency is unknown. |
html:p |
Cytochrome P450 oxidoreductase deficiency is a disorder of hormone production. |
ar |
autosomal recessive |
POR |
https://ghr.nlm.nih.gov/gene/POR |
Antley-Bixler syndrome |
db |
key |
2014-03 |
2017-12-29 |
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細胞色素P450氧化還原酶缺乏症 |
About 65 cases have been reported worldwide.Researchers suspect that cytochrome |
This condition specifically affects steroid hormones, which are needed for |
Antley-Bixler syndrome-like phenotype with disordered steroidogenesis |
GTR |
C1860042 |
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Antley Bixler syndrome |
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P450 oxidoreductase deficiency is underdiagnosed and that mild cases of this |
normal development and reproduction. The hormonal changes associated with |
Antley-Bixler syndrome with disordered steroidogenesis |
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Antley Bixler症候群 |
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disorder may be relatively common. Because the signs and symptoms can be |
cytochrome P450 oxidoreductase deficiency can affect the development of the |
combined partial deficiency of 17-hydroxylase and 21-hydroxylase |
GeneReviews |
abs |
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difficult to detect, people with mild cytochrome P450 oxidoreductase deficiency |
reproductive system, skeleton, and other parts of the body. These signs and |
congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 |
db |
key |
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may never come to medical attention. |
symptoms are usually present at birth or become apparent in early childhood. |
deficiency |
MeSH |
D054882 |
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html:p |
The signs and symptoms of cytochrome P450 oxidoreductase deficiency vary from |
POR deficiency |
db |
key |
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mild to severe. Signs and symptoms of mild cases can include a failure to begin |
PORD |
OMIM |
201750 |
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menstruation by age 16 (primary amenorrhea), an inability to have biological |
db |
key |
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children (infertility) in both men and women, and a condition called polycystic |
Orphanet |
63269 |
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ovarian syndrome (PCOS). PCOS is characterized by a hormonal imbalance in women |
db |
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that can lead to irregular menstruation, acne, excess body hair (hirsutism), and |
SNOMED CT |
62964007 |
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weight gain. |
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html:p |
People with moderate cases of cytochrome P450 oxidoreductase deficiency may have |
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external genitalia that do not look clearly male or female (ambiguous |
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genitalia), and they may have infertility. People with moderate cytochrome P450 |
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oxidoreductase deficiency usually do not have skeletal abnormalities. |
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html:p |
The severe form of cytochrome P450 oxidoreductase deficiency is sometimes called |
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Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis. |
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Hormonal changes in affected males and females lead to the development of |
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ambiguous genitalia or other genital abnormalities, as well as infertility. |
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Severe cases are also characterized by skeletal abnormalities, particularly |
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involving bones of the head and face. These include premature fusion of the |
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skull bones (craniosynostosis), a flattened mid-face, a prominent forehead, and |
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low-set ears. Other skeletal abnormalities can include joint deformities |
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(contractures) that limit movement; unusually long, slender fingers |
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(arachnodactyly); bowing of the thigh bones; and radiohumeral synostosis, which |
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is a bone abnormality that locks the elbows in a bent position. A blockage of |
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the nasal passages (choanal atresia), intellectual disability, and delayed |
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development are also associated with the severe form of the disorder. |
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html:p |
Some women who are pregnant with fetuses affected by cytochrome P450 |
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oxidoreductase deficiency experience mild symptoms of the disorder even though |
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they themselves do not have the disorder. They may develop excessive body hair |
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growth (hirsutism), acne, and a deep voice. These changes go away soon after |
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delivery. |
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related-gene-list |
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Cytogenetically normal acute myeloid leukemia |
https://ghr.nlm.nih.gov/condition/cytogenetically-normal-acute-myeloid-leukemia |
Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals |
html:p |
Cytogenetically normal acute myeloid leukemia (CN-AML) is one form of a cancer |
ad |
autosomal dominant |
CEBPA |
https://ghr.nlm.nih.gov/gene/CEBPA |
acute myelogenous leukemia with normal karyotype |
db |
key |
2014-01 |
2017-12-29 |
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急性骨髓性白血病 |
each year. Forty to 50 percent of people with acute myeloid leukemia have |
of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
CN-AML |
GTR |
C0023467 |
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(Leukemia) |
CN-AML. |
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normal bone marrow, early blood cells called hematopoietic stem cells develop |
n |
not inherited |
DNMT3A |
https://ghr.nlm.nih.gov/gene/DNMT3A |
NK-AML |
db |
key |
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into several types of blood cells: white blood cells (leukocytes) that protect |
related-gene |
gene-symbol |
ghr-page |
normal karyotype acute myeloid leukemia |
MeSH |
D015470 |
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the body from infection, red blood cells (erythrocytes) that carry oxygen, and |
FLT3 |
https://ghr.nlm.nih.gov/gene/FLT3 |
db |
key |
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cell fragments called platelets (thrombocytes) that are involved in blood |
related-gene |
gene-symbol |
ghr-page |
|
Orphanet |
519 |
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clotting. In acute myeloid leukemia, the bone marrow makes large numbers of |
IDH1 |
https://ghr.nlm.nih.gov/gene/IDH1 |
db |
key |
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abnormal, immature white blood cells called myeloid blasts. Instead of |
related-gene |
gene-symbol |
ghr-page |
|
SNOMED CT |
703387000 |
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developing into normal white blood cells, the myeloid blasts develop into |
IDH2 |
https://ghr.nlm.nih.gov/gene/IDH2 |
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cancerous leukemia cells. The large number of abnormal cells in the bone marrow |
related-gene |
gene-symbol |
ghr-page |
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interferes with the production of functional white blood cells, red blood cells, |
KMT2A |
https://ghr.nlm.nih.gov/gene/KMT2A |
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and platelets. |
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related-gene |
gene-symbol |
ghr-page |
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html:p |
People with CN-AML have a shortage of all types of mature blood cells: a |
NPM1 |
https://ghr.nlm.nih.gov/gene/NPM1 |
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shortage of white blood cells (leukopenia) leads to increased susceptibility to |
related-gene |
gene-symbol |
ghr-page |
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infections, a low number of red blood cells (anemia) causes fatigue and |
NRAS |
https://ghr.nlm.nih.gov/gene/NRAS |
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weakness, and a reduction in the amount of platelets (thrombocytopenia) can |
related-gene |
gene-symbol |
ghr-page |
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result in easy bruising and abnormal bleeding. Other symptoms of CN-AML may |
RUNX1 |
https://ghr.nlm.nih.gov/gene/RUNX1 |
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include fever and weight loss. |
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related-gene |
gene-symbol |
ghr-page |
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html:p |
The age at which CN-AML begins ranges from childhood to late adulthood. CN-AML |
WT1 |
https://ghr.nlm.nih.gov/gene/WT1 |
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is said to be an intermediate-risk cancer because the prognosis varies: some |
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affected individuals respond well to normal treatment while others may require |
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stronger treatments. The age at which the condition begins and the prognosis are |
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affected by the specific genetic factors involved in the condition. |
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related-gene-list |
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Czech dysplasia |
https://ghr.nlm.nih.gov/condition/czech-dysplasia |
The prevalence of Czech dysplasia is unknown; at least 11 families have |
html:p |
Czech dysplasia is an inherited condition that affects joint function and bone |
ad |
autosomal dominant |
COL2A1 |
https://ghr.nlm.nih.gov/gene/COL2A1 |
Czech dysplasia, metatarsal type |
db |
key |
2008-07 |
2017-12-29 |
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been affected. Most of these families reside in the Czech Republic. |
development. People with this condition have joint pain (osteoarthritis) that |
progressive pseudorheumatoid dysplasia with hypoplastic toes |
GTR |
C1836683 |
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begins in adolescence or early adulthood. The joint pain mainly affects the |
spondyloarthropathy with short third and fourth toes |
db |
key |
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hips, knees, shoulders, and spine and may impair mobility. People with Czech |
MeSH |
D010009 |
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dysplasia often have shortened bones in their third and fourth toes, which make |
db |
key |
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their first two toes appear unusually long. Affected individuals may have |
|
OMIM |
609162 |
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flattened bones of the spine (platyspondyly) or an abnormal spinal curvature, |
db |
key |
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such as a rounded upper back that also curves to the side (kyphoscoliosis). |
Orphanet |
137678 |
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Some people with Czech dysplasia have progressive hearing loss. |
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db |
key |
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related-gene-list |
|
SNOMED CT |
389159004 |
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D-bifunctional protein deficiency |
https://ghr.nlm.nih.gov/condition/d-bifunctional-protein-deficiency |
D-bifunctional protein deficiency is estimated to affect 1 in 100,000 |
html:p |
D-bifunctional protein deficiency is a disorder that causes deterioration of |
ar |
autosomal recessive |
HSD17B4 |
https://ghr.nlm.nih.gov/gene/HSD17B4 |
17-beta-hydroxysteroid dehydrogenase IV deficiency |
db |
key |
2014-04 |
2017-12-29 |
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D-雙功能蛋白質缺乏症 |
newborns. |
nervous system functions (neurodegeneration) beginning in infancy. Newborns with |
bifunctional peroxisomal enzyme deficiency |
GTR |
C0342870 |
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D-bifunctional protein deficiency have weak muscle tone (hypotonia) and |
DBP deficiency |
db |
key |
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seizures. Most babies with this condition never acquire any developmental |
PBFE deficiency |
GeneReviews |
leukodys-ov |
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skills. Some may reach very early developmental milestones such as the ability |
peroxisomal bifunctional enzyme deficiency |
db |
key |
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to follow movement with their eyes or control their head movement, but they |
pseudo-Zellweger syndrome |
ICD-10-CM |
E71.541 |
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experience a gradual loss of these skills (developmental regression) within a |
Zellweger-like syndrome |
db |
key |
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few months. As the condition gets worse, affected children develop exaggerated |
MeSH |
D018901 |
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reflexes (hyperreflexia), increased muscle tone (hypertonia), more severe and |
db |
key |
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recurrent seizures (epilepsy), and loss of vision and hearing. Most children |
OMIM |
261515 |
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with D-bifunctional protein deficiency do not survive past the age of 2. A small |
db |
key |
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number of individuals with this disorder are somewhat less severely affected. |
SNOMED CT |
238068007 |
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They may acquire additional basic skills, such as voluntary hand movements or |
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unsupported sitting, before experiencing developmental regression, and they may |
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survive longer into childhood than more severely affected individuals. |
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html:p |
Individuals with D-bifunctional protein deficiency may have unusual facial |
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features, including a high forehead, widely spaced eyes (hypertelorism), a |
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lengthened area between the nose and mouth (philtrum), and a high arch of the |
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hard palate at the roof of the mouth. Affected infants may also have an |
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unusually large space between the bones of the skull (fontanelle). An enlarged |
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liver (hepatomegaly) occurs in about half of affected individuals. Because these |
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features are similar to those of another disorder called Zellweger syndrome |
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(part of a group of disorders called the Zellweger spectrum), D-bifunctional |
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protein deficiency is sometimes called pseudo-Zellweger syndrome. |
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related-gene-list |
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Dandy-Walker malformation |
https://ghr.nlm.nih.gov/condition/dandy-walker-malformation |
Dandy-Walker malformation is estimated to affect 1 in 10,000 to 30,000 |
html:p |
Dandy-Walker malformation affects brain development, primarily development of |
u |
pattern unknown |
FOXC1 |
https://ghr.nlm.nih.gov/gene/FOXC1 |
Dandy-Walker complex |
db |
key |
2015-10 |
2017-12-29 |
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Dandy-Walker氏症候群 |
newborns. |
the cerebellum, which is the part of the brain that coordinates movement. In |
related-gene |
gene-symbol |
ghr-page |
Dandy-Walker cyst |
GTR |
C0010964 |
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individuals with this condition, various parts of the cerebellum develop |
ZIC1 |
https://ghr.nlm.nih.gov/gene/ZIC1 |
Dandy-Walker deformity |
db |
key |
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abnormally, resulting in malformations that can be observed with medical |
related-gene |
gene-symbol |
ghr-page |
Dandy-Walker syndrome |
ICD-10-CM |
Q03.1 |
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imaging. The central part of the cerebellum (the vermis) is absent or very small |
ZIC4 |
https://ghr.nlm.nih.gov/gene/ZIC4 |
DWM |
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key |
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and may be abnormally positioned. The right and left sides of the cerebellum |
DWS |
MeSH |
D003616 |
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may be small as well. In affected individuals, a fluid-filled cavity between the |
hydrocephalus, internal, Dandy-Walker type |
db |
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brainstem and the cerebellum (the fourth ventricle) and the part of the skull |
hydrocephalus, noncommunicating, Dandy-Walker type |
OMIM |
220200 |
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that contains the cerebellum and the brainstem (the posterior fossa) are |
Luschka-Magendie foramina atresia |
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abnormally large. These abnormalities often result in problems with movement, |
Orphanet |
217 |
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coordination, intellect, mood, and other neurological functions. |
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html:p |
In the majority of individuals with Dandy-Walker malformation, signs and |
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SNOMED CT |
14447001 |
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symptoms caused by abnormal brain development are present at birth or develop |
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within the first year of life. Some children have a buildup of fluid in the |
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brain (hydrocephalus) that may cause increased head size (macrocephaly). Up to |
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half of affected individuals have intellectual disability that ranges from mild |
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to severe, and those with normal intelligence may have learning disabilities. |
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Children with Dandy-Walker malformation often have delayed development, |
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particularly a delay in motor skills such as crawling, walking, and coordinating |
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movements. People with Dandy-Walker malformation may experience muscle |
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stiffness and partial paralysis of the lower limbs (spastic paraplegia), and |
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they may also have seizures. While rare, hearing and vision problems can be |
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features of this condition. |
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html:p |
Less commonly, other brain abnormalities have been reported in people with |
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Dandy-Walker malformation. These abnormalities include an underdeveloped or |
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absent tissue connecting the left and right halves of the brain (agenesis of the |
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corpus callosum), a sac-like protrusion of the brain through an opening at the |
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back of the skull (occipital encephalocele), or a failure of some nerve cells |
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(neurons) to migrate to their proper location in the brain during development. |
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These additional brain malformations are associated with more severe signs and |
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symptoms. |
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html:p |
Dandy-Walker malformation typically affects only the brain, but problems in |
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other systems can include heart defects, malformations of the urogenital tract, |
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extra fingers or toes (polydactyly) or fused fingers or toes (syndactyly), or |
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abnormal facial features. |
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html:p |
In 10 to 20 percent of people with Dandy-Walker malformation, signs and symptoms |
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of the condition do not appear until late childhood or into adulthood. These |
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individuals typically have a different range of features than those affected in |
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infancy, including headaches, an unsteady walking gait, paralysis of facial |
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muscles (facial palsy), increased muscle tone, muscle spasms, and mental and |
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behavioral changes. Rarely, people with Dandy-Walker malformation have no health |
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problems related to the condition. |
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html:p |
Problems related to hydrocephalus or complications of its treatment are the most |
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common cause of death in people with Dandy-Walker malformation. |
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related-gene-list |
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Danon disease |
https://ghr.nlm.nih.gov/condition/danon-disease |
Danon disease is a rare condition, but the exact prevalence is unknown. |
html:p |
Danon disease is a condition characterized by weakening of the heart muscle |
xd |
X-linked dominant |
LAMP2 |
https://ghr.nlm.nih.gov/gene/LAMP2 |
glycogen storage disease type 2B |
db |
key |
2015-03 |
2017-12-29 |
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Danon 病 |
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(cardiomyopathy); weakening of the muscles used for movement, called skeletal |
glycogen storage disease type IIb |
GTR |
C0878677 |
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muscles, (myopathy); and intellectual disability. Males with Danon disease |
lysosomal glycogen storage disease with normal acid maltase |
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usually develop the condition earlier than females and are more severely |
MeSH |
D052120 |
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affected. Signs and symptoms begin in childhood or adolescence in most affected |
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males and in early adulthood in most affected females. Affected males, on |
OMIM |
300257 |
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average, live to age 19, while affected females live to an average age of 34. |
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html:p |
Cardiomyopathy is the most common symptom of Danon disease and occurs in all |
Orphanet |
34587 |
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males with the condition. Most affected men have hypertrophic cardiomyopathy, |
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which is a thickening of the heart muscle that may make it harder for the heart |
SNOMED CT |
419097006 |
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to pump blood. Other affected males have dilated cardiomyopathy, which is a |
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condition that weakens and enlarges the heart, preventing it from pumping blood |
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efficiently. Some affected men with hypertrophic cardiomyopathy later develop |
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dilated cardiomyopathy. Either type of cardiomyopathy can lead to heart failure |
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and premature death. Most women with Danon disease also develop cardiomyopathy; |
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of the women who have this feature, about half have hypertrophic cardiomyopathy, |
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and the other half have dilated cardiomyopathy. |
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html:p |
Affected individuals can have other heart-related signs and symptoms, including |
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a sensation of fluttering or pounding in the chest (palpitations), an abnormal |
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heartbeat (arrhythmia), or chest pain. Many affected individuals have |
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abnormalities of the electrical signals that control the heartbeat (conduction |
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abnormalities). People with Danon disease are often affected by a specific |
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conduction abnormality known as cardiac preexcitation. The type of cardiac |
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preexcitation most often seen in people with Danon disease is called the |
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Wolff-Parkinson-White syndrome pattern. |
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html:p |
Skeletal myopathy occurs in most men with Danon disease and about half of |
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affected women. The weakness typically occurs in the muscles of the upper arms, |
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shoulders, neck, and upper thighs. Many males with Danon disease have elevated |
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levels of an enzyme called creatine kinase in their blood, which often indicates |
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muscle disease. |
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html:p |
Most men with Danon disease, but only a small percentage of affected women, have |
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intellectual disability. If present, the disability is usually mild. |
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html:p |
There can be other signs and symptoms of the condition in addition to the three |
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characteristic features. Several affected individuals have had gastrointestinal |
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disease, breathing problems, or visual abnormalities. |
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related-gene-list |
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Darier disease |
https://ghr.nlm.nih.gov/condition/darier-disease |
The worldwide prevalence of Darier disease is unknown. The prevalence of |
html:p |
Darier disease is a skin condition characterized by wart-like blemishes on the |
ad |
autosomal dominant |
ATP2A2 |
https://ghr.nlm.nih.gov/gene/ATP2A2 |
Darier-White disease |
db |
key |
2008-03 |
2017-12-29 |
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Darier’s disease |
Darier disease is estimated to be 1 in 30,000 people in Scotland, 1 in 36,000 |
body. The blemishes are usually yellowish in color, hard to the touch, mildly |
Darier's Disease |
GTR |
C0022595 |
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Darier氏病 |
people in northern England, and 1 in 100,000 people in Denmark. |
greasy, and can emit a strong odor. The most common sites for blemishes are the |
Keratosis Follicularis |
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key |
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毛囊角化症 |
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scalp, forehead, upper arms, chest, back, knees, elbows, and behind the ear. |
MeSH |
D007644 |
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The mucous membranes can also be affected, with blemishes on the roof of the |
db |
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mouth (palate), tongue, inside of the cheek, gums, and throat. Other features |
OMIM |
124200 |
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of Darier disease include nail abnormalities, such as red and white streaks in |
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the nails with an irregular texture, and small pits in the palms of the hands |
Orphanet |
218 |
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and soles of the feet. |
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html:p |
The wart-like blemishes characteristic of Darier disease usually appear in late |
SNOMED CT |
239110000 |
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childhood to early adulthood. The severity of the disease varies over time; |
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affected people experience flare-ups alternating with periods when they have |
SNOMED CT |
400018004 |
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fewer blemishes. The appearance of the blemishes is influenced by environmental |
db |
key |
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factors. Most people with Darier disease will develop more blemishes during |
SNOMED CT |
403783009 |
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the summertime when they are exposed to heat and humidity. UV light; minor |
db |
key |
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injury or friction, such as rubbing or scratching; and ingestion of certain |
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SNOMED CT |
403784003 |
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medications can also cause an increase in blemishes. |
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html:p |
On occasion, people with Darier disease may have neurological disorders such as |
SNOMED CT |
403785002 |
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mild intellectual disability, epilepsy, and depression. Learning and behavior |
db |
key |
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difficulties have also been reported in people with Darier disease. Researchers |
SNOMED CT |
403786001 |
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do not know if these conditions, which are common in the general population, |
db |
key |
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are associated with the genetic changes that cause Darier disease, or if they |
SNOMED CT |
403787005 |
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are coincidental. Some researchers believe that behavioral problems might be |
db |
key |
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linked to the social stigma experienced by people with numerous skin blemishes. |
SNOMED CT |
48611009 |
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html:p |
A form of Darier disease known as the linear or segmental form is characterized |
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by blemishes on localized areas of the skin. The blemishes are not as |
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widespread as they are in typical Darier disease. Some people with the linear |
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form of this condition have the nail abnormalities that are seen in people with |
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classic Darier disease, but these abnormalities occur only on one side of the |
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body. |
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related-gene-list |
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Deafness and myopia syndrome |
https://ghr.nlm.nih.gov/condition/deafness-and-myopia-syndrome |
The prevalence of deafness and myopia syndrome is unknown. Only a few |
html:p |
Deafness and myopia syndrome is a disorder that causes problems with both |
ar |
autosomal recessive |
SLITRK6 |
https://ghr.nlm.nih.gov/gene/SLITRK6 |
deafness and myopia |
db |
key |
2015-11 |
2017-12-29 |
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affected families have been described in the medical literature. |
hearing and vision. People with this disorder have moderate to profound hearing |
deafness, cochlear, plus |
GTR |
C1857342 |
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loss in both ears that may worsen over time. The hearing loss may be described |
DFNMYP |
db |
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as sensorineural, meaning that it is related to changes in the inner ear, or it |
high myopia and sensorineural deafness |
GeneReviews |
dfn-myop |
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may be caused by auditory neuropathy, which is a problem with the transmission |
high myopia-sensorineural deafness syndrome |
db |
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of sound (auditory) signals from the inner ear to the brain. The hearing loss is |
myopia and deafness |
MeSH |
D006319 |
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either present at birth (congenital) or begins in infancy, before the child |
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learns to speak (prelingual). |
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MeSH |
D009216 |
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html:p |
Affected individuals also have severe nearsightedness (high myopia). These |
db |
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individuals are able to see nearby objects clearly, but objects that are farther |
OMIM |
221200 |
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away appear blurry. The myopia is usually diagnosed by early childhood. |
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Orphanet |
363396 |
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related-gene-list |
|
SNOMED CT |
720506002 |
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Deafness-dystonia-optic neuronopathy syndrome |
https://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome |
DDON syndrome is a rare disorder; it has been reported in fewer than 70 |
html:p |
Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as |
xr |
X-linked recessive |
TIMM8A |
https://ghr.nlm.nih.gov/gene/TIMM8A |
Deafness-dystonia syndrome |
db |
key |
2008-09 |
2017-12-29 |
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people worldwide. |
Mohr-Tranebjærg syndrome, is characterized by hearing loss that begins early in |
Mohr-Tranebjærg syndrome |
GTR |
C0796074 |
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life, problems with movement, impaired vision, and behavior problems. This |
db |
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condition occurs almost exclusively in males. |
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GeneReviews |
ddon |
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html:p |
The first symptom of DDON syndrome is hearing loss caused by nerve damage in the |
db |
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inner ear (sensorineural hearing loss), which begins in early childhood. The |
MeSH |
D040181 |
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hearing impairment worsens over time, and most affected individuals have |
db |
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profound hearing loss by age 10. |
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OMIM |
304700 |
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html:p |
People with DDON syndrome typically begin to develop problems with movement |
db |
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during their teens, although the onset of these symptoms varies among affected |
Orphanet |
52368 |
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individuals. Some people experience involuntary tensing of the muscles |
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(dystonia), while others have difficulty coordinating movements (ataxia). The |
SNOMED CT |
702423009 |
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problems with movement usually worsen over time. |
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html:p |
Individuals with DDON syndrome have normal vision during childhood, but they may |
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begin to develop an increased sensitivity to light (photophobia) or other |
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vision problems during their teens. These people often have a slowly progressive |
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reduction in the sharpness of vision (visual acuity) and become legally blind |
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in mid-adulthood. |
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html:p |
People with this condition may also have behavior problems, including changes in |
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personality and aggressive or paranoid behaviors. They also usually develop a |
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gradual decline in thinking and reasoning abilities (dementia) in their forties. |
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The lifespan of individuals with DDON syndrome depends on the severity of the |
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disorder. People with severe cases have survived into their teenage years, while |
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those with milder cases have lived into their sixties. |
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related-gene-list |
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Dementia with Lewy bodies |
https://ghr.nlm.nih.gov/condition/dementia-with-lewy-bodies |
Dementia with Lewy bodies is estimated to affect 1.4 million people in the |
html:p |
Dementia with Lewy bodies is a nervous system disorder characterized by a |
ad |
autosomal dominant |
GBA |
https://ghr.nlm.nih.gov/gene/GBA |
dementia of the Lewy body type |
db |
key |
2017-10 |
2017-12-29 |
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United States. It accounts for about 5 percent of all dementia cases in older |
decline in intellectual function (dementia), a group of movement problems known |
related-gene |
gene-symbol |
ghr-page |
dementia, Lewy body |
GTR |
C0752347 |
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individuals and is the second most common dementia after Alzheimer disease. |
as parkinsonism, visual hallucinations, sudden changes (fluctuations) in |
SNCA |
https://ghr.nlm.nih.gov/gene/SNCA |
diffuse Lewy body disease |
db |
key |
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behavior and intellectual ability, and acting out dreams while asleep (REM sleep |
related-gene |
gene-symbol |
ghr-page |
DLB |
ICD-10-CM |
G31.83 |
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behavior disorder). This condition typically affects older adults, most often |
SNCB |
https://ghr.nlm.nih.gov/gene/SNCB |
LBD |
db |
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developing between ages 50 and 85. The life expectancy of individuals with |
Lewy body dementia |
MeSH |
D020961 |
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dementia with Lewy bodies varies; people typically survive about 5 to 7 years |
Lewy body disease |
db |
key |
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after they are diagnosed. |
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OMIM |
127750 |
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html:p |
REM sleep behavior disorder is usually the first sign of dementia with Lewy |
db |
key |
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bodies. It can occur years before other symptoms appear. Individuals with REM |
SNOMED CT |
80098002 |
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sleep behavior disorder act out their dreams, talking and moving in their sleep. |
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This behavior becomes less pronounced as dementia with Lewy bodies worsens and |
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additional features develop. |
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html:p |
Dementia is often the second major feature to develop in dementia with Lewy |
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bodies. This intellectual decline often leads to impaired ability to perform |
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visual-spatial tasks such as puzzles. Affected individuals may also have poor |
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problem-solving skills (executive functioning), speech difficulties, and reduced |
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inhibitions. Problems with memory typically do not occur until later. |
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html:p |
In people with dementia with Lewy bodies, visual hallucinations typically |
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involve people or animals. Fluctuations in behavior and intellectual ability |
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include sudden changes in attention, thought processes, and mood. Affected |
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individuals might have inconsistent behaviors, unintelligible speech, and brief |
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episodes of altered consciousness that may appear as staring spells. |
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html:p |
Parkinsonism is usually the last major feature to develop in people with |
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dementia with Lewy bodies. In affected individuals, the movement problems |
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typically include tremors, rigidity, unusually slow movement (bradykinesia), and |
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impaired balance and coordination (postural instability). Affected individuals |
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often require walking aids or wheelchair assistance. |
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html:p |
Individuals with dementia with Lewy bodies may also experience a sharp drop in |
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blood pressure upon standing (orthostatic hypotension), fainting episodes |
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(syncope), difficulty controlling the flow of urine (incontinence), or |
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constipation. |
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related-gene-list |
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Dent disease |
https://ghr.nlm.nih.gov/condition/dent-disease |
Dent disease is a rare condition, with about 250 affected families |
html:p |
Dent disease is a chronic kidney disorder that occurs almost exclusively in |
xr |
X-linked recessive |
CLCN5 |
https://ghr.nlm.nih.gov/gene/CLCN5 |
Dent's disease |
db |
key |
2012-09 |
2017-12-29 |
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凹陷疾病 |
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reported. Dent disease 1 is more common than Dent disease 2.Dent disease is |
males. In affected individuals, kidney problems result from damage to structures |
related-gene |
gene-symbol |
ghr-page |
Dents disease |
GTR |
C1845167 |
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likely underdiagnosed because it may not be identified in people with mild signs |
called proximal tubules. Signs and symptoms of this condition appear in early |
OCRL |
https://ghr.nlm.nih.gov/gene/OCRL |
db |
key |
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and symptoms, and because its features overlap with those of other kidney |
childhood and worsen over time. |
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GTR |
C1848336 |
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disorders. |
html:p |
The most frequent sign of Dent disease is the presence of an abnormally large |
db |
key |
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amount of proteins in the urine (tubular proteinuria). Other common signs of the |
GeneReviews |
dent |
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disorder include excess calcium in the urine (hypercalciuria), calcium deposits |
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key |
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in the kidneys (nephrocalcinosis), and kidney stones (nephrolithiasis). Kidney |
MeSH |
D057973 |
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stones can cause abdominal pain and blood in the urine (hematuria). In most |
db |
key |
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affected males, progressive kidney problems lead to end-stage renal disease |
OMIM |
300009 |
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(ESRD) in early to mid-adulthood. ESRD is a life-threatening failure of kidney |
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function that occurs when the kidneys are no longer able to filter fluids and |
OMIM |
300555 |
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waste products from the body effectively. |
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html:p |
Some people with Dent disease develop rickets, a bone disorder that results when |
Orphanet |
1652 |
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the levels of vitamin D and certain minerals (including calcium) in the blood |
db |
key |
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become too low. Rickets can be associated with weakening and softening of the |
SNOMED CT |
444645005 |
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bones, bone pain, bowed legs, and difficulty walking. |
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html:p |
Researchers have described two forms of Dent disease, which are distinguished by |
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their genetic cause and pattern of signs and symptoms. Both forms of Dent |
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disease (type 1 and type 2) are characterized by the features described above, |
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but Dent disease 2 can also be associated with abnormalities unrelated to kidney |
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function. These additional signs and symptoms include mild intellectual |
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disability, weak muscle tone (hypotonia), and clouding of the lens of the eyes |
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(cataract) that is described as subclinical because it does not impair vision. |
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Some researchers consider Dent disease 2 to be a mild variant of a similar |
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disorder called Lowe syndrome. |
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related-gene-list |
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Dentatorubral-pallidoluysian atrophy |
https://ghr.nlm.nih.gov/condition/dentatorubral-pallidoluysian-atrophy |
DRPLA is most common in the Japanese population, where it has an estimated |
html:p |
Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive |
ad |
autosomal dominant |
ATN1 |
https://ghr.nlm.nih.gov/gene/ATN1 |
DRPLA |
db |
key |
2008-11 |
2017-12-29 |
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Dentatorubropallidoluysian atrophy, DRPLA |
incidence of 2 to 7 per million people. This condition has also been seen in |
brain disorder that causes involuntary movements, mental and emotional problems, |
Haw River syndrome |
GTR |
C0751781 |
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齒狀紅核蒼白球肌萎縮症 |
families from North America and Europe.Although DRPLA is rare in the United |
and a decline in thinking ability. The average age of onset of DRPLA is 30 |
Myoclonic epilepsy with choreoathetosis |
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key |
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(Brain) |
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States, it has been studied in a large African American family from the Haw |
years, but this condition can appear anytime from infancy to mid-adulthood. |
Naito-Oyanagi disease |
GeneReviews |
drpla |
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River area of North Carolina. When the family was first identified, researchers |
html:p |
The signs and symptoms of DRPLA differ somewhat between affected children and |
NOD |
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named the disorder Haw River syndrome. Later, researchers determined that Haw |
adults. When DRPLA appears before age 20, it most often involves episodes of |
MeSH |
D020191 |
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River syndrome and DRPLA are the same condition. |
involuntary muscle jerking or twitching (myoclonus), seizures, behavioral |
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key |
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changes, intellectual disability, and problems with balance and coordination |
OMIM |
125370 |
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(ataxia). When DRPLA begins after age 20, the most frequent signs and symptoms |
db |
key |
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are ataxia, uncontrollable movements of the limbs (choreoathetosis), psychiatric |
Orphanet |
101 |
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symptoms such as delusions, and deterioration of intellectual function |
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key |
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(dementia). |
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SNOMED CT |
68116008 |
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related-gene-list |
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Dentinogenesis imperfecta |
https://ghr.nlm.nih.gov/condition/dentinogenesis-imperfecta |
Dentinogenesis imperfecta affects an estimated 1 in 6,000 to 8,000 people. |
html:p |
Dentinogenesis imperfecta is a disorder of tooth development. This condition |
ad |
autosomal dominant |
DSPP |
https://ghr.nlm.nih.gov/gene/DSPP |
DGI |
db |
key |
2017-06 |
2017-12-29 |
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牙本质发育不全症 |
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causes the teeth to be discolored (most often a blue-gray or yellow-brown color) |
hereditary opalescent dentin |
GTR |
C0205730 |
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(Dental) |
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and translucent. Teeth are also weaker than normal, making them prone to rapid |
db |
key |
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wear, breakage, and loss. These problems can affect both primary (baby) teeth |
GTR |
C0399378 |
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and permanent teeth. |
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key |
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html:p |
Researchers have described three types of dentinogenesis imperfecta with similar |
ICD-10-CM |
Q78.0 |
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dental abnormalities. Type I occurs in people who have osteogenesis imperfecta, |
db |
key |
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a genetic condition in which bones are brittle and easily broken. |
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MeSH |
D003811 |
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Dentinogenesis imperfecta type II and type III usually occur in people without |
db |
key |
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other inherited disorders. A few older individuals with type II have had |
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OMIM |
125420 |
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progressive high-frequency hearing loss in addition to dental abnormalities, but |
db |
key |
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it is not known whether this hearing loss is related to dentinogenesis |
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OMIM |
125490 |
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imperfecta. |
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db |
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html:p |
Some researchers believe that dentinogenesis imperfecta type II and type III, |
OMIM |
125500 |
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along with a condition called dentin dysplasia type II, are actually forms of a |
db |
key |
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single disorder. The signs and symptoms of dentin dysplasia type II are very |
Orphanet |
1653 |
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similar to those of dentinogenesis imperfecta. However, dentin dysplasia type |
db |
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II affects the primary teeth much more than the permanent teeth. |
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Orphanet |
166260 |
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db |
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Orphanet |
166265 |
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db |
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Orphanet |
49042 |
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db |
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SNOMED CT |
196286005 |
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db |
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SNOMED CT |
234969005 |
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db |
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related-gene-list |
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SNOMED CT |
234970006 |
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Denys-Drash syndrome |
https://ghr.nlm.nih.gov/condition/denys-drash-syndrome |
The prevalence of Denys-Drash syndrome is unknown; at least 150 affected |
html:p |
Denys-Drash syndrome is a condition that affects the kidneys and genitalia. |
ad |
autosomal dominant |
WT1 |
https://ghr.nlm.nih.gov/gene/WT1 |
DDS |
db |
key |
2013-03 |
2017-12-29 |
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Denys-Drash症候群 |
individuals have been reported in the scientific literature. |
html:p |
Denys-Drash syndrome is characterized by kidney disease that begins within the |
Drash syndrome |
GTR |
C0950121 |
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Wilms tumor |
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first few months of life. Affected individuals have a condition called diffuse |
nephropathy, Wilms tumor, and genital anomalies |
db |
key |
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威爾姆氏腫瘤 |
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glomerulosclerosis, in which scar tissue forms throughout glomeruli, which are |
Wilms tumor and pseudohermaphroditism |
GeneReviews |
wilms-ov |
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(Renal) |
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the tiny blood vessels in the kidneys that filter waste from blood. In people |
db |
key |
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with Denys-Drash syndrome, this condition often leads to kidney failure in |
MeSH |
D030321 |
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childhood. People with Denys-Drash syndrome have an estimated 90 percent chance |
db |
key |
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of developing a rare form of kidney cancer known as Wilms tumor. Affected |
OMIM |
194080 |
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individuals may develop multiple tumors in one or both kidneys. |
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key |
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html:p |
Although males with Denys-Drash syndrome have the typical male chromosome |
Orphanet |
220 |
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pattern (46,XY), they have gonadal dysgenesis, in which external genitalia do |
db |
key |
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not look clearly male or clearly female (ambiguous genitalia) or the genitalia |
SNOMED CT |
236385009 |
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appear completely female. The testes of affected males are undescended, which |
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means they are abnormally located in the pelvis, abdomen, or groin. As a result, |
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males with Denys-Drash are typically unable to have biological children |
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(infertile). |
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html:p |
Affected females usually have normal genitalia and have only the kidney features |
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of the condition. Because they do not have all the features of the condition, |
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females are usually given the diagnosis of isolated nephrotic syndrome. |
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related-gene-list |
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Deoxyguanosine kinase deficiency |
https://ghr.nlm.nih.gov/condition/deoxyguanosine-kinase-deficiency |
The prevalence of deoxyguanosine kinase deficiency is unknown. |
html:p |
Deoxyguanosine kinase deficiency is an inherited disorder that can cause liver |
ar |
autosomal recessive |
DGUOK |
https://ghr.nlm.nih.gov/gene/DGUOK |
DGUOK-related mitochondrial DNA depletion syndrome |
db |
key |
2009-12 |
2017-12-29 |
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脫氧鳥苷激酶缺乏症 |
Approximately 100 affected individuals have been identified. |
disease and neurological problems. Researchers have described two forms of this |
hepatocerebral mitochondrial DNA depletion syndrome |
GTR |
C3151513 |
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disorder. The majority of affected individuals have the more severe form, which |
mitochondrial DNA depletion syndrome, hepatocerebral form |
db |
key |
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is called hepatocerebral because of the serious problems it causes in the liver |
GeneReviews |
dguok-mtddepl |
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and brain. |
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db |
key |
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html:p |
Newborns with the hepatocerebral form of deoxyguanosine kinase deficiency may |
MeSH |
D028361 |
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have a buildup of lactic acid in the body (lactic acidosis) within the first few |
db |
key |
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days after birth. They may also have weakness, behavior changes such as poor |
OMIM |
251880 |
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feeding and decreased activity, and vomiting. Affected newborns sometimes have |
db |
key |
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low blood sugar (hypoglycemia) as a result of liver dysfunction. During the |
Orphanet |
35698 |
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first few weeks of life they begin showing other signs of liver disease which |
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may result in liver failure. They also develop progressive neurological problems |
SNOMED CT |
237995002 |
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including very weak muscle tone (severe hypotonia), abnormal eye movements |
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(nystagmus) and the loss of skills they had previously acquired (developmental |
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regression). Children with this form of the disorder usually do not survive past |
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the age of 2 years. |
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Some individuals with deoxyguanosine kinase deficiency have a milder form of the |
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disorder without severe neurological problems. Liver disease is the primary |
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symptom of this form of the disorder, generally becoming evident during infancy |
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or childhood. Occasionally it first appears after an illness such as a viral |
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infection. Affected individuals may also develop kidney problems. Mild hypotonia |
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is the only neurological effect associated with this form of the disorder. |
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related-gene-list |
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Dermatofibrosarcoma protuberans |
https://ghr.nlm.nih.gov/condition/dermatofibrosarcoma-protuberans |
Dermatofibrosarcoma protuberans is estimated to occur in 1 in 100,000 to 1 |
html:p |
Dermatofibrosarcoma protuberans is a rare type of cancer that causes a tumor in |
n |
not inherited |
COL1A1 |
https://ghr.nlm.nih.gov/gene/COL1A1 |
Darier-Ferrand tumor |
db |
key |
2011-09 |
2017-12-29 |
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隆突性皮膚纖維肉瘤 |
in 1 million people per year. |
the deep layers of skin. This condition is a type of soft tissue sarcoma, which |
related-gene |
gene-symbol |
ghr-page |
Darier-Hoffmann tumor |
GTR |
C0392784 |
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(Cancer) |
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are cancers that affect skin, fat, muscle, and similar tissues. |
PDGFB |
https://ghr.nlm.nih.gov/gene/PDGFB |
dermatofibrosarcoma |
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html:p |
In dermatofibrosarcoma protuberans, the tumor most often starts as a small, firm |
related-chromosome |
name |
ghr-page |
DFSP |
MeSH |
D018223 |
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patch of skin, usually 1 to 5 centimeters in diameter, that is usually |
17 |
https://ghr.nlm.nih.gov/chromosome/17 |
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purplish, reddish, or flesh-colored. The tumor typically grows slowly and can |
related-chromosome |
name |
ghr-page |
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OMIM |
607907 |
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become a raised nodule. Occasionally, the tumor begins as a flat or depressed |
22 |
https://ghr.nlm.nih.gov/chromosome/22 |
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patch of skin (plaque). Tumors are most commonly found on the torso and can also |
Orphanet |
31112 |
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be found on the arms, legs, head, or neck. Affected individuals usually first |
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show signs of this condition in their thirties, but the age at which a tumor |
SNOMED CT |
276799004 |
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appears varies widely. |
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html:p |
In dermatofibrosarcoma protuberans, the tumor has a tendency to return after |
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being removed. However, it does not often spread to other parts of the body |
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(metastasize). |
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html:p |
There are several variants of dermatofibrosarcoma protuberans in which different |
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cell types are involved in the tumor. Bednar tumors, often called pigmented |
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dermatofibrosarcoma protuberans, contain dark-colored (pigmented) cells called |
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melanin-containing dendritic cells. Myxoid dermatofibrosarcoma protuberans |
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tumors contain an abnormal type of connective tissue known as myxoid stroma. |
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Giant cell fibroblastoma, which is sometimes referred to as juvenile |
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dermatofibrosarcoma protuberans because it typically affects children and |
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adolescents, is characterized by giant cells in the tumor. |
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html:p |
Rarely, the tumors involved in the different types of dermatofibrosarcoma |
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protuberans can have regions that look similar to fibrosarcoma, a more |
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aggressive type of soft tissue sarcoma. In these cases, the condition is called |
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fibrosarcomatous dermatofibrosarcoma protuberans or FS-DFSP. FS-DFSP tumors are |
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more likely to metastasize than tumors in the other types of dermatofibrosarcoma |
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protuberans. |
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related-gene-list |
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Desmoid tumor |
https://ghr.nlm.nih.gov/condition/desmoid-tumor |
Desmoid tumors are rare, affecting an estimated 1 to 2 per 500,000 people |
html:p |
A desmoid tumor is an abnormal growth that arises from connective tissue, which |
ad |
autosomal dominant |
APC |
https://ghr.nlm.nih.gov/gene/APC |
aggressive fibromatosis |
db |
key |
2013-03 |
2017-12-29 |
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纖維類瘤 |
|
worldwide. In the United States, 900 to 1,500 new cases are diagnosed per year. |
is the tissue that provides strength and flexibility to structures such as |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
deep fibromatosis |
GTR |
C1851124 |
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(Tumor) |
|
Sporadic desmoid tumors are more common than those associated with familial |
bones, ligaments, and muscles. Typically, a single tumor develops, although some |
ar |
autosomal recessive |
CTNNB1 |
https://ghr.nlm.nih.gov/gene/CTNNB1 |
desmoid fibromatosis |
db |
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adenomatous polyposis. |
people have multiple tumors. The tumors can occur anywhere in the body. Tumors |
familial infiltrative fibromatosis |
MeSH |
D018222 |
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that form in the abdominal wall are called abdominal desmoid tumors; those that |
hereditary desmoid disease |
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arise from the tissue that connects the abdominal organs are called |
musculoaponeurotic fibromatosis |
OMIM |
135290 |
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intra-abdominal desmoid tumors; and tumors found in other regions of the body |
db |
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are called extra-abdominal desmoid tumors. Extra-abdominal tumors occur most |
SNOMED CT |
47284001 |
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often in the shoulders, upper arms, and upper legs. |
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html:p |
Desmoid tumors are fibrous, much like scar tissue. They are generally not |
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considered cancerous (malignant) because they do not spread to other parts of |
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the body (metastasize); however, they can aggressively invade the surrounding |
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tissue and can be very difficult to remove surgically. These tumors often recur, |
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even after apparently complete removal. |
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html:p |
The most common symptom of desmoid tumors is pain. Other signs and symptoms, |
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which are often caused by growth of the tumor into surrounding tissue, vary |
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based on the size and location of the tumor. Intra-abdominal desmoid tumors can |
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block the bowel, causing constipation. Extra-abdominal desmoid tumors can |
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restrict the movement of affected joints and cause limping or difficulty moving |
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the arms or legs. |
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html:p |
Desmoid tumors occur frequently in people with an inherited form of colon cancer |
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called familial adenomatous polyposis (FAP). These individuals typically |
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develop intra-abdominal desmoid tumors in addition to abnormal growths (called |
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polyps) and cancerous tumors in the colon. Desmoid tumors that are not part of |
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an inherited condition are described as sporadic. |
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related-gene-list |
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Desmosterolosis |
https://ghr.nlm.nih.gov/condition/desmosterolosis |
The prevalence of desmosterolosis is unknown; at least 10 affected |
html:p |
Desmosterolosis is a condition that is characterized by neurological problems, |
ar |
autosomal recessive |
DHCR24 |
https://ghr.nlm.nih.gov/gene/DHCR24 |
deficiency of 3beta-hydroxysterol delta24-reductase |
db |
key |
2014-08 |
2017-12-29 |
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individuals have been described in the scientific literature. |
such as brain abnormalities and developmental delay, and can also include other |
GTR |
C1865596 |
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signs and symptoms. |
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html:p |
Children with desmosterolosis have delayed speech and motor skills (such as |
MeSH |
D008052 |
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sitting and walking). Later in childhood, some affected individuals are able to |
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walk with support; verbal communication is often limited to a few words or |
OMIM |
602398 |
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phrases. Common brain abnormalities in desmosterolosis include malformation of |
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the tissue that connects the left and right halves of the brain (the corpus |
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Orphanet |
35107 |
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callosum) and loss of white matter, which consists of nerve fibers covered by a |
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fatty substance called myelin. |
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SNOMED CT |
709490002 |
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html:p |
People with desmosterolosis commonly have muscle stiffness (spasticity) and |
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stiff, rigid joints (arthrogryposis) affecting their hands and feet. Other |
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features seen in some affected individuals include short stature, abnormal head |
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size (either larger or smaller than normal), a small lower jaw (micrognathia), |
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an opening in the roof of the mouth (cleft palate), involuntary eye movements |
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(nystagmus) or eyes that do not look in the same direction (strabismus), heart |
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defects, and seizures. |
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related-gene-list |
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Diamond-Blackfan anemia, DBA |
https://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia |
Diamond-Blackfan anemia affects approximately 5 to 7 per million liveborn |
html:p |
Diamond-Blackfan anemia is a disorder of the bone marrow. The major function of |
ad |
autosomal dominant |
RPL5 |
https://ghr.nlm.nih.gov/gene/RPL5 |
Aase-Smith syndrome II |
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key |
2012-02 |
2017-12-29 |
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先天性纯红血球再生障碍性贫血 |
infants worldwide. |
bone marrow is to produce new blood cells. In Diamond-Blackfan anemia, the bone |
related-gene |
gene-symbol |
ghr-page |
Aase syndrome |
GTR |
C0265265 |
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(Blood) |
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marrow malfunctions and fails to make enough red blood cells, which carry oxygen |
RPL11 |
https://ghr.nlm.nih.gov/gene/RPL11 |
BDA |
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to the body's tissues. The resulting shortage of red blood cells (anemia) |
related-gene |
gene-symbol |
ghr-page |
BDS |
GTR |
C1260899 |
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usually becomes apparent during the first year of life. Symptoms of anemia |
RPL35A |
https://ghr.nlm.nih.gov/gene/RPL35A |
Blackfan Diamond anemia |
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include fatigue, weakness, and an abnormally pale appearance (pallor). |
related-gene |
gene-symbol |
ghr-page |
Blackfan-Diamond disease |
GTR |
C1853666 |
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html:p |
People with Diamond-Blackfan anemia have an increased risk of several serious |
RPS7 |
https://ghr.nlm.nih.gov/gene/RPS7 |
Blackfan-Diamond syndrome |
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complications related to their malfunctioning bone marrow. Specifically, they |
related-gene |
gene-symbol |
ghr-page |
chronic congenital agenerative anemia |
GTR |
C1857719 |
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have a higher-than-average chance of developing myelodysplastic syndrome (MDS), |
RPS10 |
https://ghr.nlm.nih.gov/gene/RPS10 |
congenital erythroid hypoplastic anemia |
db |
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which is a disorder in which immature blood cells fail to develop normally. |
related-gene |
gene-symbol |
ghr-page |
congenital hypoplastic anemia of Blackfan and Diamond |
GTR |
C2675511 |
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Affected individuals also have an increased risk of developing certain cancers, |
RPS17 |
https://ghr.nlm.nih.gov/gene/RPS17 |
congenital pure red cell anemia |
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including a cancer of blood-forming tissue known as acute myeloid leukemia (AML) |
related-gene |
gene-symbol |
ghr-page |
congenital pure red cell aplasia |
GTR |
C2675512 |
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and a type of bone cancer called osteosarcoma. |
RPS19 |
https://ghr.nlm.nih.gov/gene/RPS19 |
DBA |
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html:p |
Approximately half of individuals with Diamond-Blackfan anemia have physical |
related-gene |
gene-symbol |
ghr-page |
erythrogenesis imperfecta |
GTR |
C2675859 |
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abnormalities. They may have an unusually small head size (microcephaly) and a |
RPS24 |
https://ghr.nlm.nih.gov/gene/RPS24 |
hypoplastic congenital anemia |
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low frontal hairline, along with distinctive facial features such as wide-set |
related-gene |
gene-symbol |
ghr-page |
inherited erythroblastopenia |
GTR |
C2675860 |
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eyes (hypertelorism); droopy eyelids (ptosis); a broad, flat bridge of the nose; |
RPS26 |
https://ghr.nlm.nih.gov/gene/RPS26 |
pure hereditary red cell aplasia |
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small, low-set ears; and a small lower jaw (micrognathia). Affected individuals |
GTR |
C2750080 |
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may also have an opening in the roof of the mouth (cleft palate) with or |
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without a split in the upper lip (cleft lip). They may have a short, webbed |
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GTR |
C2750081 |
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neck; shoulder blades which are smaller and higher than usual; and abnormalities |
db |
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of their hands, most commonly malformed or absent thumbs. About one-third of |
GeneReviews |
diamond-b |
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affected individuals have slow growth leading to short stature. |
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html:p |
Other features of Diamond-Blackfan anemia may include eye problems such as |
ICD-10-CM |
D61.01 |
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clouding of the lens of the eyes (cataracts), increased pressure in the eyes |
db |
key |
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(glaucoma), or eyes that do not look in the same direction (strabismus). |
MeSH |
D029503 |
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Affected individuals may also have kidney abnormalities; structural defects of |
db |
key |
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the heart; and, in males, the opening of the urethra on the underside of the |
OMIM |
105650 |
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penis (hypospadias). |
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html:p |
The severity of Diamond-Blackfan anemia may vary, even within the same family. |
OMIM |
606129 |
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Increasingly, individuals with "non-classical" Diamond-Blackfan anemia have been |
db |
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identified. This form of the disorder typically has less severe symptoms that |
OMIM |
610629 |
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may include mild anemia beginning in adulthood. |
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OMIM |
612527 |
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db |
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OMIM |
612528 |
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db |
key |
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OMIM |
612561 |
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db |
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OMIM |
612562 |
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db |
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OMIM |
612563 |
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db |
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OMIM |
613308 |
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db |
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OMIM |
613309 |
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db |
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Orphanet |
124 |
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db |
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SNOMED CT |
191240007 |
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db |
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SNOMED CT |
71988008 |
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db |
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related-gene-list |
|
SNOMED CT |
88854002 |
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Diastrophic dysplasia |
https://ghr.nlm.nih.gov/condition/diastrophic-dysplasia |
Although the exact prevalence of diastrophic dysplasia is unknown, |
html:p |
Diastrophic dysplasia is a disorder of cartilage and bone development. Affected |
ar |
autosomal recessive |
SLC26A2 |
https://ghr.nlm.nih.gov/gene/SLC26A2 |
Diastrophic dwarfism |
db |
key |
2008-02 |
2017-12-29 |
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|
軟骨生成不全 |
researchers estimate that it affects about 1 in 500,000 newborns in the United |
individuals have short stature with very short arms and legs. Most also have |
DTD |
GTR |
C0220726 |
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(bone and cartilage) |
States. This condition is more common in Finland, where it affects about 1 in |
early-onset joint pain (osteoarthritis) and joint deformities called |
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33,000 newborns. |
contractures, which restrict movement. These joint problems often make it |
GeneReviews |
diastrophic-d |
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difficult to walk and tend to worsen with age. Additional features of |
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diastrophic dysplasia include an inward- and upward-turning foot (clubfoot), |
ICD-10-CM |
Q77.5 |
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progressive abnormal curvature of the spine, and unusually positioned thumbs |
db |
key |
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(hitchhiker thumbs). About half of infants with diastrophic dysplasia are born |
MeSH |
D010009 |
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with an opening in the roof of the mouth (a cleft palate). Swelling of the |
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external ears is also common in newborns and can lead to thickened, deformed |
OMIM |
222600 |
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ears. |
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html:p |
The signs and symptoms of diastrophic dysplasia are similar to those of another |
Orphanet |
628 |
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skeletal disorder called atelosteogenesis type 2; however, diastrophic dysplasia |
db |
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tends to be less severe. Although some affected infants have breathing |
|
SNOMED CT |
58561002 |
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problems, most people with diastrophic dysplasia live into adulthood. |
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inheritance-pattern-list |
related-gene-list |
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DICER1 syndrome |
https://ghr.nlm.nih.gov/condition/dicer1-syndrome |
DICER1 syndrome is a rare condition; its prevalence is unknown. |
html:p |
DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous |
ad |
autosomal dominant |
ghr-page |
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome |
db-key |
db |
key |
2016-05 |
2017-12-29 |
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and noncancerous (benign) tumors, most commonly certain types of tumors |
https://ghr.nlm.nih.gov/gene/DICER1 |
pleuropulmonary blastoma familial tumor and dysplasia syndrome |
GTR |
C1266144 |
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that occur in the lungs, kidneys, ovaries, and thyroid (a butterfly-shaped gland |
pleuropulmonary blastoma family tumor susceptibility syndrome |
db-key |
db |
key |
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in the lower neck). Affected individuals can develop one or more types of tumors, |
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GeneReviews |
pp-blastoma |
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and members of the same family can have different types. However, the risk of |
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db-key |
db |
key |
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tumor formation in individuals with DICER1 syndrome is only moderately increased |
|
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MeSH |
D009386 |
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compared with tumor risk in the general population; most individuals with genetic |
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db-key |
db |
key |
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changes associated with this condition never develop tumors. |
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OMIM |
138800 |
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html:p |
People with DICER1 syndrome who develop tumors most commonly develop |
|
db-key |
db |
key |
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pleuropulmonary blastoma, which is characterized by tumors that grow in lung |
|
|
OMIM |
601200 |
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tissue or in the outer covering of the lungs (the pleura). These tumors occur in infants |
|
db-key |
db |
key |
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and young children and are rare in adults. Pleuropulmonary blastoma is classified as |
|
|
Orphanet |
284343 |
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one of three types on the basis of tumor characteristics: in type I, the growths are |
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db-key |
db |
key |
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composed of air-filled pockets called cysts; in type II, the growths contain both |
|
|
SNOMED CT |
702411003 |
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cysts and solid tumors (or nodules); and in type III, the growth is a solid tumor that |
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can fill a large portion of the chest. Pleuropulmonary blastoma is considered cancerous, |
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and types II and III can spread (metastasize), often to the brain, liver, or bones. |
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Individuals with pleuropulmonary blastoma may also develop an abnormal |
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accumulation of air in the chest cavity that can lead to the collapse of a lung (pneumothorax). |
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Cystic nephroma, which involves multiple benign fluid-filled cysts in the kidneys, |
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can also occur; in people with DICER1 syndrome, the cysts develop early in childhood. |
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html:p |
DICER1 syndrome is also associated with tumors in the ovaries known as Sertoli-Leydig cell |
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tumors, which typically develop in affected women in their teens or twenties. Some |
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Sertoli-Leydig cell tumors release the male sex hormone testosterone; in these cases, affected |
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women may develop facial hair, a deep voice, and other male characteristics. Some affected women |
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have irregular menstrual cycles. Sertoli-Leydig cell tumors usually do not metastasize. |
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html:p |
People with DICER1 syndrome are also at risk of multinodular goiter, which is |
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enlargement of the thyroid gland caused by the growth of multiple fluid-filled or solid tumors |
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(both referred to as nodules). The nodules are generally slow-growing and benign. Despite |
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the growths, the thyroid's function is often normal. Rarely, individuals with DICER1 syndrome |
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develop thyroid cancer (thyroid carcinoma). |
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Diffuse Non-epidermolytic Palmoplantar Keratoderma type Unna-Thost |
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Unna-Throst 型非表皮分解掌蹠角化症 |
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related-gene-list |
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Dihydrolipoamide dehydrogenase deficiency |
https://ghr.nlm.nih.gov/condition/dihydrolipoamide-dehydrogenase-deficiency |
Dihydrolipoamide dehydrogenase deficiency occurs in an estimated 1 in |
html:p |
Dihydrolipoamide dehydrogenase deficiency is a severe condition that can affect |
ar |
autosomal recessive |
DLD |
https://ghr.nlm.nih.gov/gene/DLD |
dihydrolipoyl dehydrogenase deficiency |
db |
key |
2014-09 |
2017-12-29 |
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脱氢酶(缺陷) |
35,000 to 48,000 individuals of Ashkenazi Jewish descent. This population |
several body systems. Signs and symptoms of this condition usually appear |
DLD deficiency |
GTR |
CN043137 |
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typically has liver disease as the primary symptom. In other populations, the |
shortly after birth, and they can vary widely among affected individuals. |
E3 deficiency |
db |
key |
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prevalence of dihydrolipoamide dehydrogenase deficiency is unknown, but the |
html:p |
A common feature of dihydrolipoamide dehydrogenase deficiency is a potentially |
lactic acidosis due to LAD deficiency |
GeneReviews |
dld-def |
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condition is likely rare. |
life-threatening buildup of lactic acid in tissues (lactic acidosis), which can |
lactic acidosis due to lipoamide dehydrogenase deficiency |
db |
key |
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cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. |
lipoamide dehydrogenase deficiency |
MeSH |
D028361 |
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Neurological problems are also common in this condition; the first symptoms in |
maple syrup urine disease, type III |
db |
key |
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affected infants are often decreased muscle tone (hypotonia) and extreme |
OMIM |
246900 |
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tiredness (lethargy). As the problems worsen, affected infants can have |
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key |
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difficulty feeding, decreased alertness, and seizures. Liver problems can also |
Orphanet |
2394 |
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occur in dihydrolipoamide dehydrogenase deficiency, ranging from an enlarged |
db |
key |
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liver (hepatomegaly) to life-threatening liver failure. In some affected people, |
SNOMED CT |
29914000 |
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liver disease, which can begin anytime from infancy to adulthood, is the |
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primary symptom. The liver problems are usually associated with recurrent |
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vomiting and abdominal pain. Rarely, people with dihydrolipoamide dehydrogenase |
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deficiency experience weakness of the muscles used for movement (skeletal |
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muscles), particularly during exercise; droopy eyelids; or a weakened heart |
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muscle (cardiomyopathy). Other features of this condition include excess ammonia |
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in the blood (hyperammonemia), a buildup of molecules called ketones in the |
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body (ketoacidosis), or low blood sugar levels (hypoglycemia). |
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html:p |
Typically, the signs and symptoms of dihydrolipoamide dehydrogenase deficiency |
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occur in episodes that may be triggered by fever, injury, or other stresses on |
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the body. Affected individuals are usually symptom-free between episodes. Many |
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infants with this condition do not survive the first few years of life because |
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of the severity of these episodes. Affected individuals who survive past early |
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childhood often have delayed growth and neurological problems, including |
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intellectual disability, muscle stiffness (spasticity), difficulty coordinating |
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movements (ataxia), and seizures. |
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related-gene-list |
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Dihydropyrimidinase deficiency |
https://ghr.nlm.nih.gov/condition/dihydropyrimidinase-deficiency |
Dihydropyrimidinase deficiency is thought to be a rare disorder. Only a few |
html:p |
Dihydropyrimidinase deficiency is a disorder that can cause neurological and |
ar |
autosomal recessive |
DPYS |
https://ghr.nlm.nih.gov/gene/DPYS |
dihydropyrimidinuria |
db |
key |
2014-09 |
2017-12-29 |
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二氫嘧啶酶缺乏症 |
dozen affected individuals have been described in the medical literature. |
gastrointestinal problems in some affected individuals. Other people with |
dihydrouracil amidohydrolase deficiency |
GTR |
C0342803 |
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dihydropyrimidinase deficiency have no signs or symptoms related to the |
DPH deficiency |
db |
key |
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disorder, and in these individuals the condition can be diagnosed only by |
DPYS deficiency |
MeSH |
D011686 |
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laboratory testing. |
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db |
key |
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html:p |
The neurological abnormalities that occur most often in people with |
|
OMIM |
222748 |
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dihydropyrimidinase deficiency are intellectual disability, seizures, and weak |
db |
key |
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muscle tone (hypotonia). An abnormally small head size (microcephaly) and |
Orphanet |
38874 |
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autistic behaviors that affect communication and social interaction also occur |
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in some individuals with this condition. |
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SNOMED CT |
238014002 |
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html:p |
Gastrointestinal problems that occur in dihydropyrimidinase deficiency include |
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backflow of acidic stomach contents into the esophagus (gastroesophageal reflux) |
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and recurrent episodes of vomiting (cyclic vomiting). Affected individuals can |
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also have deterioration (atrophy) of the small, finger-like projections (villi) |
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that line the small intestine and provide a large surface area with which to |
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absorb nutrients. This condition, called villous atrophy, can lead to difficulty |
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absorbing nutrients from foods (malabsorption), resulting in a failure to grow |
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and gain weight at the expected rate (failure to thrive). |
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html:p |
People with dihydropyrimidinase deficiency, including those who otherwise |
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exhibit no symptoms, may be vulnerable to severe, potentially life-threatening |
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toxic reactions to certain drugs called fluoropyrimidines that are used to treat |
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cancer. Common examples of these drugs are 5-fluorouracil and capecitabine. |
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These drugs may not be broken down efficiently and can build up to toxic levels |
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in the body (fluoropyrimidine toxicity), leading to drug reactions including |
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gastrointestinal problems, blood abnormalities, and other signs and symptoms. |
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related-gene-list |
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Dihydropyrimidine dehydrogenase deficiency |
https://ghr.nlm.nih.gov/condition/dihydropyrimidine-dehydrogenase-deficiency |
Severe dihydropyrimidine dehydrogenase deficiency, with its early-onset |
html:p |
Dihydropyrimidine dehydrogenase deficiency is a disorder characterized by a wide |
ad |
autosomal dominant |
DPYD |
https://ghr.nlm.nih.gov/gene/DPYD |
dihydropyrimidinuria |
db |
key |
2015-09 |
2017-12-29 |
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二氫嘧啶脫氫酶缺乏症 |
neurological symptoms, is a rare disorder. Its prevalence is unknown. However, |
range of severity, with neurological problems in some individuals and no signs |
code |
memo |
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DPD deficiency |
GTR |
C2720286 |
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between 2 and 8 percent of the general population may be vulnerable to toxic |
or symptoms in others. |
ar |
autosomal recessive |
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familial pyrimidemia |
db |
key |
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reactions to fluoropyrimidine drugs caused by otherwise asymptomatic |
html:p |
In people with severe dihydropyrimidine dehydrogenase deficiency, the disorder |
hereditary thymine-uraciluria |
MeSH |
D054067 |
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dihydropyrimidine dehydrogenase deficiency. |
becomes apparent in infancy. These affected individuals have neurological |
db |
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problems such as recurrent seizures (epilepsy), intellectual disability, a small |
OMIM |
274270 |
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head size (microcephaly), increased muscle tone (hypertonia), delayed |
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development of motor skills such as walking, and autistic behaviors that affect |
Orphanet |
1675 |
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communication and social interaction. Other affected individuals are |
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key |
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asymptomatic, which means they do not have any signs or symptoms of the |
SNOMED CT |
77365006 |
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condition. Individuals with asymptomatic dihydropyrimidine dehydrogenase |
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deficiency may be identified only by laboratory testing. |
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html:p |
People with dihydropyrimidine dehydrogenase deficiency, including those who |
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otherwise exhibit no symptoms, are vulnerable to severe, potentially |
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life-threatening toxic reactions to certain drugs called fluoropyrimidines that |
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are used to treat cancer. Common examples of these drugs are 5-fluorouracil and |
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capecitabine. These drugs are not broken down efficiently by people with |
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dihydropyrimidine dehydrogenase deficiency and build up to toxic levels in the |
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body (fluoropyrimidine toxicity). Severe inflammation and ulceration of the |
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lining of the gastrointestinal tract (mucositis) may occur, which can lead to |
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signs and symptoms including mouth sores, abdominal pain, bleeding, nausea, |
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vomiting, and diarrhea. Fluoropyrimidine toxicity may also lead to low numbers |
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of white blood cells (neutropenia), which increases the risk of infections. It |
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can also be associated with low numbers of platelets in the blood |
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(thrombocytopenia), which impairs blood clotting and may lead to abnormal |
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bleeding (hemorrhage). Redness, swelling, numbness, and peeling of the skin on |
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the palms and soles (hand-foot syndrome); shortness of breath; and hair loss may |
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also occur. |
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related-gene-list |
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Dilated cardiomyopathy with ataxia syndrome |
https://ghr.nlm.nih.gov/condition/dilated-cardiomyopathy-with-ataxia-syndrome |
DCMA syndrome is a very rare disorder. Approximately 30 cases have been |
html:p |
Dilated cardiomyopathy with ataxia (DCMA) syndrome is an inherited condition |
ar |
autosomal recessive |
DNAJC19 |
https://ghr.nlm.nih.gov/gene/DNAJC19 |
3-methylglutaconic aciduria type V |
db |
key |
2014-07 |
2017-12-29 |
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identified in the Dariusleut Hutterite population of the Great Plains region of |
characterized by heart problems, movement difficulties, and other features |
DCMA |
GTR |
C1857776 |
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Canada. Only a few affected individuals have been identified outside this |
affecting multiple body systems. |
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DCMA syndrome |
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population. |
html:p |
Beginning in infancy to early childhood, most people with DCMA syndrome develop |
DNAJC19 defect |
ICD-10-CM |
E71.111 |
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dilated cardiomyopathy, which is a condition that weakens and enlarges the |
MGA type V |
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key |
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heart, preventing it from pumping blood efficiently. Some affected individuals |
MGA5 |
MeSH |
D008661 |
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also have long QT syndrome, which is a heart condition that causes the cardiac |
MGCA5 |
db |
key |
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muscle to take longer than usual to recharge between beats. The irregular |
OMIM |
610198 |
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heartbeats (arrhythmia) can lead to fainting (syncope) or cardiac arrest and |
db |
key |
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sudden death. Rarely, heart problems improve over time; however, in most cases |
Orphanet |
66634 |
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of DCMA syndrome, affected individuals do not survive past childhood due to |
db |
key |
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heart failure. A small percentage of people with DCMA syndrome have no heart |
SNOMED CT |
711412004 |
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problems at all. |
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html:p |
By age 2, children with DCMA syndrome have problems with coordination and |
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balance (ataxia). These movement problems can result in delay of motor skills |
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such as standing and walking, but most older children with DCMA syndrome can |
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walk without support. |
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html:p |
In addition to heart problems and movement difficulties, most individuals with |
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DCMA syndrome grow slowly before and after birth, which leads to short stature. |
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Additionally, many affected individuals have mild intellectual disability. Many |
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males with DCMA syndrome have genital abnormalities such as undescended testes |
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(cryptorchidism) or the urethra opening on the underside of the penis |
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(hypospadias). Other common features of DCMA syndrome include unusually small |
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red blood cells (microcytic anemia), which can cause pale skin; an abnormal |
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buildup of fats in the liver (hepatic steatosis), which can damage the liver; |
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and the degeneration of nerve cells that carry visual information from the eyes |
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to the brain (optic nerve atrophy), which can lead to vision loss. |
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html:p |
DCMA syndrome is associated with increased levels of a substance called |
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3-methylglutaconic acid in the urine. The amount of acid does not appear to |
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influence the signs and symptoms of the condition. DCMA syndrome is one of a |
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group of metabolic disorders that can be diagnosed by the presence of increased |
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levels of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People |
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with DCMA syndrome also have high urine levels of another acid called |
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3-methylglutaric acid. |
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Disorder of leucine catabolism |
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白胺酸代謝異常 |
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related-gene-list |
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Distal 18q deletion syndrome |
https://ghr.nlm.nih.gov/condition/distal-18q-deletion-syndrome |
Deletions from the q arm of chromosome 18 occur in an estimated 1 in 40,000 |
html:p |
Distal 18q deletion syndrome is a chromosomal condition that occurs when a piece |
ad |
autosomal dominant |
TCF4 |
https://ghr.nlm.nih.gov/gene/TCF4 |
18q deletion syndrome |
db |
key |
2017-02 |
2017-12-29 |
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newborns worldwide. Most of these deletions occur in the distal region of the q |
of the long (q) arm of chromosome 18 is missing. The term "distal" means that |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
18q- syndrome |
GTR |
C0432443 |
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arm, leading to distal 18q deletion syndrome. |
the missing piece occurs near one end of the chromosome. Distal 18q deletion |
n |
not inherited |
TSHZ1 |
https://ghr.nlm.nih.gov/gene/TSHZ1 |
chromosome 18 long arm deletion syndrome |
db |
key |
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syndrome can lead to a wide variety of signs and symptoms among affected |
related-chromosome |
name |
ghr-page |
chromosome 18q deletion syndrome |
MeSH |
D025063 |
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individuals. |
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18 |
https://ghr.nlm.nih.gov/chromosome/18 |
chromosome 18q monosomy |
db |
key |
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html:p |
Some common features of distal 18q deletion syndrome include short stature |
chromosome 18q- syndrome |
OMIM |
601808 |
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(often due to growth hormone deficiency), weak muscle tone (hypotonia), hearing |
De Grouchy syndrome |
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loss, and foot abnormalities such as an inward or upward-turning foot (clubfoot) |
del(18q) syndrome |
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or feet with soles that are rounded outward (rocker-bottom feet). Eye movement |
monosomy 18q |
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disorders and other vision problems, an opening in the roof of the mouth (cleft |
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palate), an underactive thyroid gland (hypothyroidism), heart abnormalities that |
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are present from birth (congenital heart defects), kidney problems, genital |
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abnormalities, and skin problems may also occur in this disorder. Some affected |
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individuals have mild facial differences such as deep-set eyes, a flat or sunken |
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appearance of the middle of the face (midface hypoplasia), a wide mouth, and |
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prominent ears. These features are often not noticeable except in a detailed |
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medical evaluation. |
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html:p |
Distal 18q deletion syndrome can also affect the nervous system. A common |
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neurological feature of this disorder is impaired myelin production |
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(dysmyelination). Myelin is a fatty substance that insulates nerve cells and |
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promotes the rapid transmission of nerve impulses. The formation of a protective |
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myelin sheath around nerve cells (myelination) normally begins before birth and |
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continues into adulthood. In people with distal 18q deletion syndrome, myelin |
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production is often delayed and proceeds more slowly than normal; affected |
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individuals may never have normal adult myelin levels. Most people with distal |
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18q deletion syndrome have neurological problems, although it is unclear to what |
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extent these problems are related to the dysmyelination. These problems include |
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delayed development, learning disabilities, and intellectual disability that |
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can range from mild to severe. Seizures; hyperactivity; mood disorders such as |
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anxiety, irritability, and depression; and features of autism spectrum disorders |
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that affect communication and social interaction may also occur. Some affected |
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individuals have an unusually small head size (microcephaly). |
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related-gene-list |
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Distal arthrogryposis type 1 |
https://ghr.nlm.nih.gov/condition/distal-arthrogryposis-type-1 |
Distal arthrogryposis type 1 affects an estimated 1 in 10,000 people |
html:p |
Distal arthrogryposis type 1 is a disorder characterized by joint deformities |
ad |
autosomal dominant |
MYBPC1 |
https://ghr.nlm.nih.gov/gene/MYBPC1 |
AMCD1 |
db |
key |
2017-10 |
2017-12-29 |
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worldwide. |
(contractures) that restrict movement in the hands and feet. The term |
related-gene |
gene-symbol |
ghr-page |
arthrogryposis, distal, type 1 |
GTR |
C0220662 |
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"arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or |
TPM2 |
https://ghr.nlm.nih.gov/gene/TPM2 |
DA1 |
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hooked (gryposis). The characteristic features of this condition include |
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MeSH |
D001176 |
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permanently bent fingers and toes (camptodactyly), overlapping fingers, and a |
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hand deformity in which all of the fingers are angled outward toward the fifth |
OMIM |
108120 |
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finger (ulnar deviation). Clubfoot, which is an inward- and upward-turning foot, |
db |
key |
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is also commonly seen with distal arthrogryposis type 1. The specific hand and |
Orphanet |
1146 |
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foot abnormalities vary among affected individuals. However, this condition |
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key |
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typically does not cause any signs and symptoms affecting other parts of the |
SNOMED CT |
715314008 |
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body. |
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related-gene-list |
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Distal hereditary motor neuropathy, type II |
https://ghr.nlm.nih.gov/condition/distal-hereditary-motor-neuropathy-type-ii |
The prevalence of distal hereditary motor neuropathy, type II is unknown. |
html:p |
Distal hereditary motor neuropathy, type II is a progressive disorder that |
ad |
autosomal dominant |
HSPB1 |
https://ghr.nlm.nih.gov/gene/HSPB1 |
distal hereditary motor neuronopathy, type II |
db |
key |
2009-08 |
2017-12-29 |
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At least 25 affected families have been identified worldwide. |
affects nerve cells in the spinal cord. It results in muscle weakness and |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1834692 |
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affects movement, primarily in the legs. |
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HSPB8 |
https://ghr.nlm.nih.gov/gene/HSPB8 |
db |
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html:p |
Onset of distal hereditary motor neuropathy, type II ranges from the teenage |
GTR |
C2608087 |
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years through mid-adulthood. The initial symptoms of the disorder are cramps or |
db |
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weakness in the muscles of the big toe and later, the entire foot. Over a period |
MeSH |
D009134 |
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of approximately 5 to 10 years, affected individuals experience a gradual loss |
db |
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of muscle tissue (atrophy) in the lower legs. They begin to have trouble walking |
OMIM |
158590 |
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and running, and eventually may have complete paralysis of the lower legs. The |
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thigh muscles may also be affected, although generally this occurs later and is |
OMIM |
608634 |
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less severe. |
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db |
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html:p |
Some individuals with distal hereditary motor neuropathy, type II have weakening |
Orphanet |
139525 |
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of the muscles in the hands and forearms. This weakening is less pronounced |
db |
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than in the lower limbs and does not usually result in paralysis. |
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SNOMED CT |
230247001 |
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related-gene-list |
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Distal hereditary motor neuropathy, type V |
https://ghr.nlm.nih.gov/condition/distal-hereditary-motor-neuropathy-type-v |
The incidence of distal hereditary motor neuropathy, type V is unknown. |
html:p |
Distal hereditary motor neuropathy, type V is a progressive disorder that |
ad |
autosomal dominant |
BSCL2 |
https://ghr.nlm.nih.gov/gene/BSCL2 |
DHMN-V |
db |
key |
2009-08 |
2017-12-29 |
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Only a small number of cases have been reported. |
affects nerve cells in the spinal cord. It results in muscle weakness and |
related-gene |
gene-symbol |
ghr-page |
distal hereditary motor neuronopathy type 5 |
GTR |
C1833308 |
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affects movement of the hands and feet. |
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GARS |
https://ghr.nlm.nih.gov/gene/GARS |
distal hereditary motor neuronopathy, type V |
db |
key |
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html:p |
Symptoms of distal hereditary motor neuropathy, type V usually begin during |
related-gene |
gene-symbol |
ghr-page |
distal spinal muscular atrophy, type V |
GTR |
C3553656 |
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adolescence, but onset varies from infancy to the mid-thirties. Cramps in the |
REEP1 |
https://ghr.nlm.nih.gov/gene/REEP1 |
DSMAV |
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hand brought on by exposure to cold temperatures are often the initial symptom. |
HMN V |
GeneReviews |
cmt2d |
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html:p |
The characteristic features of distal hereditary motor neuropathy, type V are |
spinal muscular atrophy, distal type V |
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weakness and wasting (atrophy) of muscles of the hand, specifically on the thumb |
spinal muscular atrophy, distal, with upper limb predominance |
GeneReviews |
spg17 |
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side of the index finger and in the palm at the base of the thumb. Foot |
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db |
key |
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abnormalities, such as a high arch (pes cavus), are also common, and some |
MeSH |
D009134 |
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affected individuals eventually develop problems with walking (gait |
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db |
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disturbance). People with this disorder have normal life expectancies. |
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OMIM |
600794 |
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db |
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OMIM |
614751 |
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db |
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Orphanet |
139536 |
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db |
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related-gene-list |
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SNOMED CT |
230247001 |
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Distal myopathy 2 |
https://ghr.nlm.nih.gov/condition/distal-myopathy-2 |
The prevalence of distal myopathy 2 is unknown. At least two families with |
html:p |
Distal myopathy 2 is a condition characterized by weakness of specific muscles |
ad |
autosomal dominant |
MATR3 |
https://ghr.nlm.nih.gov/gene/MATR3 |
distal myopathy with vocal cord and pharyngeal signs |
db |
key |
2011-11 |
2017-12-29 |
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the condition have been described in the scientific literature. |
that begins in adulthood. It is a form of muscular dystrophy that specifically |
distal myopathy with vocal cord weakness |
GTR |
C3807521 |
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involves muscles in the throat, lower legs, and forearms. Muscles farther from |
matrin 3 distal myopathy |
db |
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the center of the body, like the muscles of the lower legs and forearms, are |
MPD2 |
MeSH |
D049310 |
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known as distal muscles. |
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myopathia distalis type 2 |
db |
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html:p |
Muscle weakness in the ankles is usually the first symptom of distal myopathy 2. |
VCPDM |
OMIM |
606070 |
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The weakness can also affect muscles in the hands, wrists, and shoulders. At |
vocal cord and pharyngeal weakness with distal myopathy |
db |
key |
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first, the muscle weakness may be on only one side of the body, but both sides |
Orphanet |
600 |
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are eventually involved. This muscle weakness can slowly worsen and make actions |
db |
key |
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like walking and lifting the fingers difficult. |
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SNOMED CT |
702383005 |
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html:p |
Another characteristic feature of distal myopathy 2 is weakness of the vocal |
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cords and throat. This weakness initially causes the voice to sound weak or |
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breathy (hypophonic). Eventually, the voice becomes gurgling, hoarse, and nasal. |
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The weakness can also cause difficulty swallowing (dysphagia). |
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inheritance-pattern-list |
related-gene-list |
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DNMT3A overgrowth syndrome |
https://ghr.nlm.nih.gov/condition/dnmt3a-overgrowth-syndrome |
The prevalence of DNMT3A overgrowth syndrome is unknown. More than 20 |
html:p |
html:i |
|
ad |
autosomal dominant |
DNMT3A |
synonym |
db-key |
db |
key |
2017-09 |
2017-12-29 |
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affected individuals have been described in the medical literature. |
DNMT3A |
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synonym |
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GTR |
C4014545 |
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db-key |
db |
key |
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html:p |
html:i |
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MeSH |
D005877 |
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DNMT3A |
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db-key |
db |
key |
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OMIM |
615879 |
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db-key |
db |
key |
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html:p |
html:i |
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SNOMED CT |
48637007 |
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DNMT3A |
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html:p |
html:i |
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DNMT3A |
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html:p |
html:i |
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DNMT3A |
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inheritance-pattern-list |
related-gene-list |
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DOLK-congenital disorder of glycosylation |
https://ghr.nlm.nih.gov/condition/dolk-congenital-disorder-of-glycosylation |
DOLK-CDG is likely a rare condition; at least 18 cases have been reported |
html:p |
html:i |
-CDG, formerly known as congenital disorder of glycosylation type Im) is an |
ar |
autosomal recessive |
ghr-page |
CDG1M |
db-key |
db |
key |
2016-03 |
2017-12-29 |
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in the scientific literature. |
DOLK |
inherited condition that often affects the heart but can also involve other body |
https://ghr.nlm.nih.gov/gene/DOLK |
congenital disorder of glycosylation, type Im |
GTR |
C1835849 |
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systems. The pattern and severity of this disorder's signs and symptoms vary |
DK1 deficiency |
db-key |
db |
key |
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among affected individuals. |
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dolichol kinase deficiency |
GeneReviews |
cdg |
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html:p |
html:i |
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DOLK-CDG |
db-key |
db |
key |
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DOLK |
-CDG develop a weakened and enlarged heart (dilated cardiomyopathy). Other |
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MeSH |
D018981 |
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frequent signs and symptoms include recurrent seizures; developmental delay; |
db-key |
db |
key |
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poor muscle tone (hypotonia); and dry, scaly skin (ichthyosis). Less commonly, |
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OMIM |
610768 |
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affected individuals can have distinctive facial features, kidney disease, |
db-key |
db |
key |
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hormonal abnormalities, or eye problems. |
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Orphanet |
137 |
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html:p |
Individuals with DOLK-CDG typically do not survive into adulthood, often because of complications |
db-key |
db |
key |
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related to dilated cardiomyopathy, and some do not survive past infancy. |
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SNOMED CT |
718712005 |
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related-gene-list |
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Donnai-Barrow syndrome |
https://ghr.nlm.nih.gov/condition/donnai-barrow-syndrome |
Although its prevalence is unknown, Donnai-Barrow syndrome appears to be a |
html:p |
Donnai-Barrow syndrome is an inherited disorder that affects many parts of the |
ar |
autosomal recessive |
LRP2 |
https://ghr.nlm.nih.gov/gene/LRP2 |
DBS |
db |
key |
2013-04 |
2017-12-29 |
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rare disorder. A few dozen affected individuals have been reported in many |
body. This disorder is characterized by unusual facial features, including |
DBS/FOAR syndrome |
GTR |
C1857277 |
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regions of the world. |
prominent, wide-set eyes with outer corners that point downward; a short bulbous |
diaphragmatic hernia-exomphalos-corpus callosum agenesis |
db |
key |
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nose with a flat nasal bridge; ears that are rotated backward; and a widow's |
Diaphragmatic hernia-exomphalos-hypertelorism syndrome |
GeneReviews |
donnai |
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peak hairline. |
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faciooculoacousticorenal syndrome |
db |
key |
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html:p |
Individuals with Donnai-Barrow syndrome have severe hearing loss caused by |
FOAR syndrome |
MeSH |
D015499 |
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abnormalities of the inner ear (sensorineural hearing loss). In addition, they |
db |
key |
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often experience vision problems, including extreme nearsightedness (high |
OMIM |
222448 |
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myopia), detachment or deterioration of the light-sensitive tissue in the back |
db |
key |
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of the eye (the retina), and progressive vision loss. Some have a gap or split |
Orphanet |
2143 |
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in the colored part of the eye (iris coloboma). |
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db |
key |
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html:p |
In almost all people with Donnai-Barrow syndrome, the tissue connecting the left |
SNOMED CT |
702418009 |
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and right halves of the brain (corpus callosum) is underdeveloped or absent. |
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Affected individuals may also have other structural abnormalities of the brain. |
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They generally have mild to moderate intellectual disability and developmental |
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delay. |
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html:p |
People with Donnai-Barrow syndrome may also have a hole in the muscle that |
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separates the abdomen from the chest cavity (the diaphragm), which is called a |
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congenital diaphragmatic hernia. This potentially serious birth defect allows |
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the stomach and intestines to move into the chest and possibly crowd the |
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developing heart and lungs. An opening in the wall of the abdomen (an |
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omphalocele) that allows the abdominal organs to protrude through the navel may |
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also occur in affected individuals. Occasionally people with Donnai-Barrow |
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syndrome have abnormalities of the intestine, heart, or other organs. |
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related-gene-list |
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Donohue syndrome |
https://ghr.nlm.nih.gov/condition/donohue-syndrome |
Donohue syndrome is estimated to affect less than 1 per million people |
html:p |
Donohue syndrome is a rare disorder characterized by severe insulin resistance, |
ar |
autosomal recessive |
INSR |
https://ghr.nlm.nih.gov/gene/INSR |
Donohue's syndrome |
db |
key |
2014-12 |
2017-12-29 |
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多諾霍綜合症 |
worldwide. Several dozen cases have been reported in the medical literature. |
a condition in which the body's tissues and organs do not respond properly to |
leprechaunism |
GTR |
C0265344 |
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the hormone insulin. Insulin normally helps regulate blood sugar levels by |
leprechaunism syndrome |
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controlling how much sugar (in the form of glucose) is passed from the |
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MeSH |
D056731 |
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bloodstream into cells to be used as energy. Severe insulin resistance leads to |
db |
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problems with regulating blood sugar levels and affects the development and |
OMIM |
246200 |
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function of organs and tissues throughout the body. |
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html:p |
Severe insulin resistance underlies the varied signs and symptoms of Donohue |
Orphanet |
508 |
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syndrome. Individuals with Donohue syndrome are unusually small starting before |
db |
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birth, and affected infants experience failure to thrive, which means they do |
SNOMED CT |
111307005 |
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not grow and gain weight at the expected rate. Additional features that become |
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apparent soon after birth include a lack of fatty tissue under the skin |
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(subcutaneous fat); wasting (atrophy) of muscles; excessive body hair growth |
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(hirsutism); multiple cysts on the ovaries in females; and enlargement of the |
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nipples, genitalia, kidneys, heart, and other organs. Most affected individuals |
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also have a skin condition called acanthosis nigricans, in which the skin in |
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body folds and creases becomes thick, dark, and velvety. Distinctive facial |
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features in people with Donohue syndrome include bulging eyes, thick lips, |
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upturned nostrils, and low-set ears. Affected individuals develop recurrent, |
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life-threatening infections beginning in infancy. |
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html:p |
Donohue syndrome is one of a group of related conditions described as inherited |
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severe insulin resistance syndromes. These disorders, which also include |
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Rabson-Mendenhall syndrome and type A insulin resistance syndrome, are |
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considered part of a spectrum. Donohue syndrome represents the most severe end |
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of the spectrum; most children with this condition do not survive beyond age 2. |
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related-gene-list |
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DOORS syndrome |
https://ghr.nlm.nih.gov/condition/doors-syndrome |
DOORS syndrome is a rare disorder; its prevalence is unknown. Approximately |
html:p |
DOORS syndrome is a disorder involving multiple abnormalities that are present |
ar |
autosomal recessive |
TBC1D24 |
https://ghr.nlm.nih.gov/gene/TBC1D24 |
autosomal recessive deafness-onychodystrophy syndrome |
db |
key |
2015-12 |
2017-12-29 |
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50 affected individuals have been described in the medical literature. |
from birth (congenital). "DOORS" is an abbreviation for the major features of |
deafness-oncychodystrophy-osteodystrophy-intellectual disability syndrome |
GTR |
C1857345 |
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the disorder including deafness; short or absent nails (onychodystrophy); short |
deafness-onychoosteodystrophy-intellectual disability syndrome |
db |
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fingers and toes (osteodystrophy); developmental delay and intellectual |
deafness, onychodystrophy, osteodystrophy, and mental retardation syndrome |
GeneReviews |
tbc1d24-dis |
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disability (previously called mental retardation); and seizures. Some people |
digitorenocerebral syndrome |
db |
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with DOORS syndrome do not have all of these features. |
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DOOR syndrome |
MeSH |
D000015 |
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html:p |
Most people with DOORS syndrome have profound hearing loss caused by changes in |
DRC syndrome |
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the inner ears (sensorineural deafness). Developmental delay and intellectual |
Eronen syndrome |
OMIM |
220500 |
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disability are also often severe in this disorder. |
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html:p |
The nail abnormalities affect both the hands and the feet in DOORS syndrome. |
Orphanet |
79500 |
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Impaired growth of the bones at the tips of the fingers and toes (hypoplastic |
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terminal phalanges) account for the short fingers and toes characteristic of |
SNOMED CT |
719800009 |
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this disorder. Some affected individuals also have an extra bone and joint in |
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their thumbs, causing the thumbs to look more like the other fingers |
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(triphalangeal thumbs). |
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html:p |
The seizures that occur in people with DOORS syndrome usually start in infancy. |
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The most common seizures in people with this condition are generalized |
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tonic-clonic seizures (also known as grand mal seizures), which cause muscle |
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rigidity, convulsions, and loss of consciousness. Affected individuals may also |
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have other types of seizures, including partial seizures, which affect only one |
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area of the brain and do not cause a loss of consciousness; absence seizures, |
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which cause loss of consciousness for a short period that appears as a staring |
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spell; or myoclonic seizures, which cause rapid, uncontrolled muscle jerks. In |
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some affected individuals the seizures increase in frequency and become more |
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severe and difficult to control, and a potentially life-threatening prolonged |
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seizure (status epilepticus) can occur. |
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html:p |
Other features that can occur in people with DOORS syndrome include an unusually |
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small head size (microcephaly) and facial differences, most commonly a wide, |
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bulbous nose. A narrow or high arched roof of the mouth (palate), broadening of |
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the ridges in the upper and lower jaw that contain the sockets of the teeth |
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(alveolar ridges), or shortening of the membrane between the floor of the mouth |
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and the tongue (frenulum) have also been observed in some affected individuals. |
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People with DOORS syndrome may also have dental abnormalities, structural |
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abnormalities of the heart or urinary tract, and abnormally low levels of |
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thyroid hormones (hypothyroidism). Most affected individuals also have |
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higher-than-normal levels of a substance called 2-oxoglutaric acid in their |
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urine; these levels can fluctuate between normal and elevated. |
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related-gene-list |
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Dopa-responsive dystonia |
https://ghr.nlm.nih.gov/condition/dopa-responsive-dystonia |
Dopa-responsive dystonia is estimated to affect 1 per million people |
html:p |
Dopa-responsive dystonia is a disorder that involves involuntary muscle |
ad |
autosomal dominant |
GCH1 |
https://ghr.nlm.nih.gov/gene/GCH1 |
DRD |
db |
key |
2012-05 |
2017-12-29 |
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worldwide. However, the disorder is likely underdiagnosed because the condition |
contractions, tremors, and other uncontrolled movements (dystonia). The features |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
dystonia 5, dopa-responsive type |
GTR |
C0268468 |
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may not be identified in people with mild symptoms, or it may be misdiagnosed in |
of this condition range from mild to severe. This form of dystonia is called |
ar |
autosomal recessive |
SPR |
https://ghr.nlm.nih.gov/gene/SPR |
hereditary progressive dystonia with marked diurnal fluctuation |
db |
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people who have symptoms similar to other movement disorders. |
dopa-responsive dystonia because the signs and symptoms typically improve with |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1851920 |
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sustained use of a medication known as L-Dopa. |
TH |
https://ghr.nlm.nih.gov/gene/TH |
db |
key |
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html:p |
Signs and symptoms of dopa-responsive dystonia usually appear during childhood, |
GTR |
C1854299 |
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most commonly around age 6. The first signs of the condition are typically the |
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development of inward- and upward-turning feet (clubfeet) and dystonia in the |
GeneReviews |
drd |
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lower limbs. The dystonia spreads to the upper limbs over time; beginning in |
db |
key |
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adolescence, the whole body is typically involved. Affected individuals may have |
GeneReviews |
dystonia-ov |
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unusual limb positioning and a lack of coordination when walking or running. |
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key |
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Some people with this condition have sleep problems or episodes of depression |
MeSH |
D004421 |
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more frequently than would normally be expected. |
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db |
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html:p |
Over time, affected individuals often develop a group of movement abnormalities |
OMIM |
128230 |
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called parkinsonism. These abnormalities include unusually slow movement |
db |
key |
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(bradykinesia), muscle rigidity, tremors, and an inability to hold the body |
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OMIM |
605407 |
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upright and balanced (postural instability). |
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db |
key |
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html:p |
The movement difficulties associated with dopa-responsive dystonia usually |
OMIM |
612716 |
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worsen with age but stabilize around age 30. A characteristic feature of |
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key |
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dopa-responsive dystonia is worsening of movement problems later in the day and |
Orphanet |
255 |
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an improvement of symptoms in the morning, after sleep (diurnal fluctuation). |
db |
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html:p |
Rarely, the movement problems associated with dopa-responsive dystonia do not |
SNOMED CT |
230332007 |
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appear until adulthood. In these adult-onset cases, parkinsonism usually |
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develops before dystonia, and movement problems are slow to worsen and do not |
SNOMED CT |
45116002 |
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show diurnal fluctuations. |
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db |
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SNOMED CT |
715768000 |
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db |
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related-gene-list |
|
SNOMED CT |
715827001 |
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Dopamine beta-hydroxylase deficiency |
https://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency |
Dopamine β-hydroxylase deficiency is a very rare disorder. Fewer than 20 |
html:p |
Dopamine beta (β)-hydroxylase deficiency is a condition that affects the |
ar |
autosomal recessive |
DBH |
https://ghr.nlm.nih.gov/gene/DBH |
dopamine β-hydroxylase |
db |
key |
2008-09 |
2017-12-29 |
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affected individuals, all of Western European descent, have been described in |
autonomic nervous system, which controls involuntary body processes such as the |
noradrenaline deficiency |
GTR |
C0342687 |
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the scientific literature. |
regulation of blood pressure and body temperature. Problems related to this |
norepinephrine deficiency |
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disorder can first appear during infancy. Early signs and symptoms may include |
GeneReviews |
dbh |
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episodes of vomiting, dehydration, decreased blood pressure (hypotension), |
db |
key |
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difficulty maintaining body temperature, and low blood sugar (hypoglycemia). |
MeSH |
D001342 |
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html:p |
Individuals with dopamine β-hydroxylase deficiency typically experience a sharp |
db |
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drop in blood pressure upon standing (orthostatic hypotension), which can cause |
OMIM |
223360 |
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dizziness, blurred vision, or fainting. This sudden drop in blood pressure is |
db |
key |
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usually more severe when getting out of bed in the morning, during hot weather, |
Orphanet |
230 |
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and as a person gets older. People with dopamine β-hydroxylase deficiency |
db |
key |
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experience extreme fatigue during exercise (exercise intolerance) due to their |
SNOMED CT |
237923004 |
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problems maintaining a normal blood pressure. |
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html:p |
Other features of dopamine β-hydroxylase deficiency include droopy eyelids |
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(ptosis), nasal congestion, and an inability to stand for a prolonged period of |
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time. Affected males may also experience retrograde ejaculation, a discharge of |
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semen backwards into the bladder. Less common features include an unusually |
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large range of joint movement (hypermobility) and muscle weakness. |
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related-gene-list |
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Dopamine transporter deficiency syndrome |
https://ghr.nlm.nih.gov/condition/dopamine-transporter-deficiency-syndrome |
Dopamine transporter deficiency syndrome appears to be a rare disease; only |
html:p |
Dopamine transporter deficiency syndrome is a rare movement disorder. The |
ar |
autosomal recessive |
SLC6A3 |
https://ghr.nlm.nih.gov/gene/SLC6A3 |
DTDS |
db |
key |
2015-10 |
2017-12-29 |
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about 20 affected individuals have been described in the medical literature. |
condition is also known as infantile parkinsonism-dystonia because the problems |
infantile parkinsonism-dystonia |
GTR |
C2751067 |
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Researchers believe that the condition is probably underdiagnosed because its |
with movement (dystonia and parkinsonism, described below) usually start in |
parkinsonism-dystonia, infantile |
db |
key |
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signs and symptoms overlap with cerebral palsy and other movement disorders. |
infancy and worsen over time. However, the features of the condition sometimes |
PKDYS |
GeneReviews |
parkinson-overview |
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do not appear until childhood or later. |
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People with dopamine transporter deficiency syndrome develop a pattern of |
GeneReviews |
slc6a3-dtds |
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involuntary, sustained muscle contractions known as dystonia. The dystonia is |
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widespread (generalized), affecting many different muscles. The continuous |
MeSH |
D010300 |
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muscle cramping and spasms cause difficulty with basic activities, including |
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speaking, eating, drinking, picking up objects, and walking. |
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MeSH |
D020821 |
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html:p |
As the condition worsens, affected individuals develop parkinsonism, which is a |
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group of movement abnormalities including tremors, unusually slow movement |
OMIM |
613135 |
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(bradykinesia), rigidity, and an inability to hold the body upright and balanced |
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(postural instability). Other signs and symptoms that can develop include |
SNOMED CT |
722763000 |
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abnormal eye movements; reduced facial expression (hypomimia); disturbed sleep; |
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frequent episodes of pneumonia; and problems with the digestive system, |
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including a backflow of acidic stomach contents into the esophagus |
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(gastroesophageal reflux) and constipation. |
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html:p |
People with dopamine transporter deficiency syndrome may have a shortened |
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lifespan, although the long-term effects of this condition are not fully |
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understood. Children with this condition have died from pneumonia and breathing |
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problems. When the first signs and symptoms appear later in life, affected |
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individuals may survive into adulthood. |
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related-gene-list |
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Dowling-Degos disease |
https://ghr.nlm.nih.gov/condition/dowling-degos-disease |
Dowling-Degos disease appears to be a rare condition, although its |
html:p |
Dowling-Degos disease is a skin condition characterized by a lacy or net-like |
ad |
autosomal dominant |
KRT5 |
https://ghr.nlm.nih.gov/gene/KRT5 |
dark dot disease |
db |
key |
2017-08 |
2017-12-29 |
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(skin) |
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prevalence is unknown. |
(reticulate) pattern of abnormally dark skin coloring (hyperpigmentation), |
related-gene |
gene-symbol |
ghr-page |
DDD |
GTR |
C3714534 |
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particularly in the body's folds and creases. These skin changes typically first |
POFUT1 |
https://ghr.nlm.nih.gov/gene/POFUT1 |
Dowling-Degos-Kitamura disease |
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appear in the armpits and groin area and can later spread to other skin folds |
related-gene |
gene-symbol |
ghr-page |
reticular pigment anomaly of flexures |
GTR |
C3809147 |
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such as the crook of the elbow, back of the knee, and under the breasts. Less |
POGLUT1 |
https://ghr.nlm.nih.gov/gene/POGLUT1 |
reticular pigmented anomaly of flexures |
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commonly, pigmentation changes can also occur on the neck, wrists, back of the |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3810313 |
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hands, face, scalp, scrotum, and vulva. These areas of hyperpigmentation |
PSENEN |
https://ghr.nlm.nih.gov/gene/PSENEN |
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typically cause no health problems. |
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MeSH |
D012873 |
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html:p |
Individuals with Dowling-Degos disease may also have dark spots (lesions) on the |
db |
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face and back that resemble blackheads, red bumps around the mouth that |
OMIM |
179850 |
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resemble acne, or pitted scars on the face similar to acne scars but with no |
db |
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history of acne. Fluid-filled sacs within the hair follicle (pilar cysts) may |
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OMIM |
615327 |
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develop, most commonly on the scalp. Rarely, affected individuals have patches |
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of skin that are unusually light in color (hypopigmented). |
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OMIM |
615674 |
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html:p |
In rare cases, individuals with Dowling-Degos disease experience itching |
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(pruritus) or burning sensations on the skin. These feelings can be triggered by |
OMIM |
615696 |
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UV light, sweating, or friction on the skin. |
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html:p |
The pigmentation changes characteristic of Dowling-Degos disease typically begin |
Orphanet |
79145 |
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in late childhood or in adolescence, although in some individuals, features of |
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the condition do not appear until adulthood. New areas of hyperpigmentation tend |
SNOMED CT |
239054009 |
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to develop over time, and the other skin lesions tend to increase in number as |
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well. While the skin changes associated with Dowling-Degos disease may cause |
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distress or anxiety, they typically cause no other health problems. |
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html:p |
A condition called Galli-Galli disease has signs and symptoms similar to those |
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of Dowling-Degos disease. In addition to pigmentation changes, individuals with |
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Galli-Galli disease also have a breakdown of cells in the outer layer of skin |
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(acantholysis). Acantholysis can cause skin irritation and itchiness and lead to |
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reddened or missing patches of skin (erosions). These conditions used to be |
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considered two separate disorders, but Galli-Galli disease and Dowling-Degos |
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disease are now regarded as the same condition. |
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related-gene-list |
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Down syndrome |
https://ghr.nlm.nih.gov/condition/down-syndrome |
Down syndrome occurs in about 1 in 800 newborns. About 5,300 babies with |
html:p |
Down syndrome is a chromosomal condition that is associated with intellectual |
n |
not inherited |
21 |
https://ghr.nlm.nih.gov/chromosome/21 |
47,XX,+21 |
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2012-06 |
2017-12-29 |
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唐氏症 |
|
Down syndrome are born in the United States each year, and approximately 200,000 |
disability, a characteristic facial appearance, and weak muscle tone (hypotonia) |
47,XY,+21 |
GTR |
C0013080 |
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people in this country have the condition. Although women of any age can have a |
in infancy. All affected individuals experience cognitive delays, but the |
Down's syndrome |
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child with Down syndrome, the chance of having a child with this condition |
intellectual disability is usually mild to moderate. |
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trisomy 21 |
ICD-10-CM |
Q90 |
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increases as a woman gets older. |
html:p |
People with Down syndrome may have a variety of birth defects. About half of all |
trisomy G |
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affected children are born with a heart defect. Digestive abnormalities, such |
ICD-10-CM |
Q90.0 |
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as a blockage of the intestine, are less common. |
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html:p |
Individuals with Down syndrome have an increased risk of developing several |
ICD-10-CM |
Q90.1 |
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medical conditions. These include gastroesophageal reflux, which is a backflow |
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of acidic stomach contents into the esophagus, and celiac disease, which is an |
ICD-10-CM |
Q90.2 |
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intolerance of a wheat protein called gluten. About 15 percent of people with |
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Down syndrome have an underactive thyroid gland (hypothyroidism). The thyroid |
ICD-10-CM |
Q90.9 |
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gland is a butterfly-shaped organ in the lower neck that produces hormones. |
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Individuals with Down syndrome also have an increased risk of hearing and vision |
MeSH |
D004314 |
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problems. Additionally, a small percentage of children with Down syndrome |
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develop cancer of blood-forming cells (leukemia). |
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OMIM |
190685 |
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html:p |
Delayed development and behavioral problems are often reported in children with |
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Down syndrome. Affected individuals' speech and language develop later and more |
Orphanet |
870 |
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slowly than in children without Down syndrome, and affected individuals' speech |
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may be more difficult to understand. Behavioral issues can include attention |
SNOMED CT |
205615000 |
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problems, obsessive/compulsive behavior, and stubbornness or tantrums. A small |
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percentage of people with Down syndrome are also diagnosed with developmental |
SNOMED CT |
205616004 |
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conditions called autism spectrum disorders, which affect communication and |
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social interaction. |
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SNOMED CT |
254264002 |
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html:p |
People with Down syndrome often experience a gradual decline in thinking ability |
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(cognition) as they age, usually starting around age 50. Down syndrome is also |
SNOMED CT |
371045000 |
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associated with an increased risk of developing Alzheimer disease, a brain |
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disorder that results in a gradual loss of memory, judgment, and ability to |
SNOMED CT |
41040004 |
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function. Approximately half of adults with Down syndrome develop Alzheimer |
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disease. Although Alzheimer disease is usually a disorder that occurs in older |
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adults, people with Down syndrome usually develop this condition in their |
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fifties or sixties. |
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related-gene-list |
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Duane-radial ray syndrome |
https://ghr.nlm.nih.gov/condition/duane-radial-ray-syndrome |
Duane-radial ray syndrome is a rare condition whose prevalence is unknown. |
html:p |
Duane-radial ray syndrome is a disorder that affects the eyes and causes |
ad |
autosomal dominant |
SALL4 |
https://ghr.nlm.nih.gov/gene/SALL4 |
DRRS |
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2009-12 |
2017-12-29 |
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Only a few affected families have been reported worldwide. |
abnormalities of bones in the arms and hands. This condition is characterized by |
Okihiro syndrome |
GTR |
C1623209 |
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a particular problem with eye movement called Duane anomaly (also known as |
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Duane syndrome). This abnormality results from the improper development of |
GeneReviews |
drrs |
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certain nerves that control eye movement. Duane anomaly limits outward eye |
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movement (toward the ear), and in some cases may limit inward eye movement |
ICD-10-CM |
H50.81 |
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(toward the nose). Also, as the eye moves inward, the eye opening becomes |
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narrower and the eyeball may pull back (retract) into its socket. |
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ICD-10-CM |
H50.811 |
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html:p |
Bone abnormalities in the hands include malformed or absent thumbs, an extra |
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thumb, or a long thumb that looks like a finger. Partial or complete absence of |
ICD-10-CM |
H50.812 |
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bones in the forearm is also common. Together, these hand and arm abnormalities |
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are known as radial ray malformations. |
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MeSH |
D004370 |
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html:p |
People with the combination of Duane anomaly and radial ray malformations may |
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have a variety of other signs and symptoms. These features include unusually |
OMIM |
607323 |
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shaped ears, hearing loss, heart and kidney defects, a distinctive facial |
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appearance, an inward- and upward-turning foot (clubfoot), and fused spinal |
Orphanet |
233 |
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bones (vertebrae). |
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html:p |
The varied signs and symptoms of Duane-radial ray syndrome often overlap with |
SNOMED CT |
699867001 |
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features of other disorders. For example, acro-renal-ocular syndrome is |
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characterized by Duane anomaly and other eye abnormalities, radial ray |
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malformations, and kidney defects. Both conditions are caused by mutations in |
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the same gene. Based on these similarities, researchers suspect that |
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Duane-radial ray syndrome and acro-renal-ocular syndrome are part of an |
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overlapping set of syndromes with many possible signs and symptoms. The features |
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of Duane-radial ray syndrome are also similar to those of a condition called |
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Holt-Oram syndrome; however, these two disorders are caused by mutations in |
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different genes. |
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related-gene-list |
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Dubin-Johnson syndrome |
https://ghr.nlm.nih.gov/condition/dubin-johnson-syndrome |
Although Dubin-Johnson syndrome occurs in people of all ethnic backgrounds, |
html:p |
Dubin-Johnson syndrome is a condition characterized by jaundice, which is a |
ar |
autosomal recessive |
ABCC2 |
https://ghr.nlm.nih.gov/gene/ABCC2 |
DJS |
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2009-03 |
2017-12-29 |
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杜賓-強森症候群 |
it is more common among Iranian and Moroccan Jews living in Israel. Studies |
yellowing of the skin and whites of the eyes. In most affected people jaundice |
hyperbilirubinemia II |
GTR |
C0022350 |
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suggest that this disorder affects 1 in 1,300 Iranian Jews in Israel. |
appears during adolescence or early adulthood, although a few individuals have |
Jaundice, Chronic Idiopathic |
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Additionally, several people in the Japanese population have been diagnosed with |
been diagnosed soon after birth. Jaundice is typically the only symptom of |
ICD-10-CM |
E80.6 |
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Dubin-Johnson syndrome. This condition appears to be less common in other |
Dubin-Johnson syndrome, but some people also experience weakness, mild upper |
db |
key |
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countries. |
abdominal pain, nausea, and/or vomiting. |
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MeSH |
D007566 |
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db |
key |
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OMIM |
237500 |
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db |
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Orphanet |
234 |
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db |
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related-gene-list |
|
SNOMED CT |
44553005 |
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Duchenne and Becker muscular dystrophy |
https://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy |
Duchenne and Becker muscular dystrophies together affect 1 in 3,500 to |
html:p |
Muscular dystrophies are a group of genetic conditions characterized by |
xr |
X-linked recessive |
DMD |
https://ghr.nlm.nih.gov/gene/DMD |
DBMD |
db |
key |
2016-11 |
2017-12-29 |
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5,000 newborn males worldwide. Between 400 and 600 boys in the United States are |
progressive muscle weakness and wasting (atrophy). The Duchenne and Becker types |
Duchenne/Becker muscular dystrophy |
GTR |
C0013264 |
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born with these conditions each year. |
of muscular dystrophy are two related conditions that primarily affect skeletal |
muscular dystrophy, Duchenne and Becker types |
db |
key |
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Duchenne muscular dystrophy |
muscles, which are used for movement, and heart (cardiac) muscle. These forms |
muscular dystrophy, pseudohypertrophic |
GTR |
C0917713 |
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杜氏肌营养不良症 |
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of muscular dystrophy occur almost exclusively in males. |
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裘馨氏肌肉萎縮症 |
html:p |
Duchenne and Becker muscular dystrophies have similar signs and symptoms and are |
GeneReviews |
dbmd |
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caused by different mutations in the same gene. The two conditions differ in |
db |
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their severity, age of onset, and rate of progression. In boys with Duchenne |
GeneReviews |
dcm-ov |
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muscular dystrophy, muscle weakness tends to appear in early childhood and |
db |
key |
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worsen rapidly. Affected children may have delayed motor skills, such as |
MeSH |
D020388 |
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sitting, standing, and walking. They are usually wheelchair-dependent by |
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adolescence. The signs and symptoms of Becker muscular dystrophy are usually |
OMIM |
300376 |
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milder and more varied. In most cases, muscle weakness becomes apparent later in |
db |
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childhood or in adolescence and worsens at a much slower rate. |
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OMIM |
310200 |
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html:p |
Both the Duchenne and Becker forms of muscular dystrophy are associated with a |
db |
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heart condition called cardiomyopathy. This form of heart disease weakens the |
Orphanet |
262 |
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cardiac muscle, preventing the heart from pumping blood efficiently. In both |
db |
key |
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Duchenne and Becker muscular dystrophy, cardiomyopathy typically begins in |
SNOMED CT |
387732009 |
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adolescence. Later, the heart muscle becomes enlarged, and the heart problems |
db |
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develop into a condition known as dilated cardiomyopathy. Signs and symptoms of |
SNOMED CT |
76670001 |
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dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), |
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shortness of breath, extreme tiredness (fatigue), and swelling of the legs and |
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feet. These heart problems worsen rapidly and become life-threatening in most |
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cases. Males with Duchenne muscular dystrophy typically live into their |
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twenties, while males with Becker muscular dystrophy can survive into their |
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forties or beyond. |
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html:p |
A related condition called X-linked dilated cardiomyopathy is a form of heart |
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disease caused by mutations in the same gene as Duchenne and Becker muscular |
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dystrophy, and it is sometimes classified as subclinical Becker muscular |
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dystrophy. People with X-linked dilated cardiomyopathy typically do not have any |
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skeletal muscle weakness or wasting, although they may have subtle changes in |
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their skeletal muscle cells that are detectable through laboratory testing. |
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related-gene-list |
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Dupuytren contracture |
https://ghr.nlm.nih.gov/condition/dupuytren-contracture |
Dupuytren contracture occurs in about 5 percent of people in the United |
html:p |
Dupuytren contracture is a deformity of the hand in which the joints of one or |
ad |
autosomal dominant |
C8orf34 |
https://ghr.nlm.nih.gov/gene/C8orf34 |
contraction of palmar fascia |
db |
key |
2016-09 |
2017-12-29 |
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迪皮特朗攣縮 |
States. It is common in northern Europeans; 30 percent of Norwegian men over age |
more fingers can become permanently bent in a flexed position. Permanently bent |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Dupuytren's contracture |
GTR |
C0013312 |
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60 develop the disorder. Studies suggest that a genetic predisposition to |
joints are called contractures. The condition most often occurs in men older |
m |
mitochondrial |
EPDR1 |
https://ghr.nlm.nih.gov/gene/EPDR1 |
Dupuytren's disease |
db |
key |
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develop this disorder may have been spread through northern Europe and Britain |
than age 50. In women, it is four times less common, and also tends to appear |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
familial palmar fibromatosis |
ICD-10-CM |
M72.0 |
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by the Vikings. Dupuytren contracture is less common in non-European |
later and be less severe. However, Dupuytren contracture can occur at any time |
n |
not inherited |
RSPO2 |
https://ghr.nlm.nih.gov/gene/RSPO2 |
palmar fascial fibromatosis |
db |
key |
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populations. |
of life, including childhood. The disorder can make it more difficult for |
related-gene |
gene-symbol |
ghr-page |
palmar fibromas |
MeSH |
D004387 |
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affected individuals to perform manual tasks such as preparing food, writing, or |
SFRP4 |
https://ghr.nlm.nih.gov/gene/SFRP4 |
db |
key |
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playing musical instruments. |
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
126900 |
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html:p |
In about half of cases, Dupuytren contracture occurs in only one hand, affecting |
SULF1 |
https://ghr.nlm.nih.gov/gene/SULF1 |
db |
key |
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the right hand twice as often as the left. Which hand is affected does not seem |
related-gene |
gene-symbol |
ghr-page |
|
Orphanet |
79142 |
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to be related to whether the person is right-handed or left-handed. |
WNT2 |
https://ghr.nlm.nih.gov/gene/WNT2 |
db |
key |
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html:p |
Dupuytren contracture results from shortening and thickening of bands of fibrous |
related-gene |
gene-symbol |
ghr-page |
|
SNOMED CT |
274142002 |
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tissue under the skin of the palm (palmar fascia). Fascia is a type of |
WNT4 |
https://ghr.nlm.nih.gov/gene/WNT4 |
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connective tissue, which supports the body's muscles, joints, organs, and skin |
related-gene |
gene-symbol |
ghr-page |
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and provides strength and flexibility to structures throughout the body. |
WNT7B |
https://ghr.nlm.nih.gov/gene/WNT7B |
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In Dupuytren contracture the thickening of the fascia typically first appears as |
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one or more small hard nodules that can be seen and felt under the skin of the |
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palm. In some affected individuals the nodules remain the only sign of the |
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disorder, and occasionally even go away without treatment, but in most cases the |
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condition gradually gets worse. Over months or years, the abnormal fibrous |
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tissue gets shorter and thicker, developing into tight bands of tissue called |
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cords. These cords gradually draw the affected fingers downward so that they |
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curl toward the palm. As the condition gets worse, it becomes difficult or |
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impossible to extend the affected fingers, resulting in the contracture |
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associated with this disorder. The ring finger is most often involved, followed |
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by the little, middle, and index fingers. Occasionally the thumb is involved. |
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Dupuytren contracture is usually not painful, but in some cases people with this |
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condition experience uncomfortable joint inflammation or sensations of burning |
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or itching. Pressure or tension may also be experienced, especially when |
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attempting to straighten affected joints. |
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People with Dupuytren contracture are at increased risk of developing other |
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disorders in which similar connective tissue abnormalities affect other parts of |
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the body. These include Garrod pads, which are nodules that develop on the |
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knuckles; Ledderhose disease, also called plantar fibromatosis, in which |
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contractures affect the foot; and, in males, Peyronie disease, which causes |
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abnormal curvature of the penis. |
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related-gene-list |
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Dyserythropoietic anemia and thrombocytopenia |
https://ghr.nlm.nih.gov/condition/dyserythropoietic-anemia-and-thrombocytopenia |
Dyserythropoietic anemia and thrombocytopenia is a rare condition; its |
html:p |
Dyserythropoietic anemia and thrombocytopenia is a condition that affects blood |
xr |
X-linked recessive |
GATA1 |
https://ghr.nlm.nih.gov/gene/GATA1 |
dyserythropoietic anemia with thrombocytopenia |
db |
key |
2014-10 |
2017-12-29 |
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先天性红细胞生成异常性贫血及血小板减少症 |
prevalence is unknown. Occasionally, individuals with this disorder are |
cells and primarily occurs in males. A main feature of this condition is a type |
GATA-1-related thrombocytopenia with dyserythropoiesis |
GTR |
C1845837 |
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(Blood) |
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mistakenly diagnosed as having more common blood disorders, making it even more |
of anemia called dyserythropoietic anemia, which is characterized by a shortage |
GATA1-related cytopenia |
db |
key |
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difficult to determine how many people have dyserythropoietic anemia and |
of red blood cells. The term "dyserythropoietic" refers to the abnormal red |
GATA1-related X-linked cytopenia |
GeneReviews |
gata1 |
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thrombocytopenia. |
blood cell formation that occurs in this condition. In affected individuals, |
X-linked macrothrombocytopenia |
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key |
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immature red blood cells are unusually shaped and cannot develop into functional |
MeSH |
D013921 |
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mature cells, leading to a shortage of healthy red blood cells. People with |
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key |
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dyserythropoietic anemia and thrombocytopenia can have another blood disorder |
OMIM |
300367 |
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characterized by a reduced level of circulating platelets (thrombocytopenia). |
db |
key |
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Platelets are cell fragments that normally assist with blood clotting. |
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Orphanet |
67044 |
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Thrombocytopenia can cause easy bruising and abnormal bleeding. While people |
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key |
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with dyserythropoietic anemia and thrombocytopenia can have signs and symptoms |
SNOMED CT |
713388002 |
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of both blood disorders, some are primarily affected by anemia, while others are |
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more affected by thrombocytopenia. |
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html:p |
The most severe cases of dyserythropoietic anemia and thrombocytopenia are |
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characterized by hydrops fetalis, a condition in which excess fluid builds up in |
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the body before birth. For many others, the signs and symptoms of |
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dyserythropoietic anemia and thrombocytopenia begin in infancy. People with this |
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condition experience prolonged bleeding or bruising after minor trauma or even |
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in the absence of injury (spontaneous bleeding). Anemia can cause pale skin, |
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weakness, and fatigue. Severe anemia may create a need for frequent blood |
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transfusions to replenish the supply of red blood cells; however, repeated blood |
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transfusions over many years can cause health problems such as excess iron in |
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the blood. People with dyserythropoietic anemia and thrombocytopenia may also |
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have a shortage of white blood cells (neutropenia), which can make them prone to |
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recurrent infections. Additionally, they may have an enlarged spleen |
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(splenomegaly). The severity of these abnormalities varies among affected |
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individuals. |
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html:p |
Some people with dyserythropoietic anemia and thrombocytopenia have additional |
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blood disorders such as beta thalassemia or congenital erythropoietic porphyria. |
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Beta thalassemia is a condition that reduces the production of hemoglobin, |
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which is the iron-containing protein in red blood cells that carries oxygen. A |
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decrease in hemoglobin can lead to a shortage of oxygen in cells and tissues |
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throughout the body. Congenital erythropoietic porphyria is another disorder |
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that impairs hemoglobin production. People with congenital erythropoietic |
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porphyria are also very sensitive to sunlight, and areas of skin exposed to the |
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sun can become fragile and blistered. |
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related-gene-list |
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Dyskeratosis congenita |
https://ghr.nlm.nih.gov/condition/dyskeratosis-congenita |
The exact prevalence of dyskeratosis congenita is unknown. It is estimated |
html:p |
Dyskeratosis congenita is a disorder that can affect many parts of the body. |
ad |
autosomal dominant |
CTC1 |
https://ghr.nlm.nih.gov/gene/CTC1 |
Zinsser-Cole-Engman syndrome |
db |
key |
2014-03 |
2017-12-29 |
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先天性角化不全症 |
to occur in approximately 1 in 1 million people. |
There are three features that are characteristic of this disorder: fingernails |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0265965 |
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and toenails that grow poorly or are abnormally shaped (nail dystrophy); changes |
ar |
autosomal recessive |
DKC1 |
https://ghr.nlm.nih.gov/gene/DKC1 |
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in skin coloring (pigmentation), especially on the neck and chest, in a pattern |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1148551 |
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often described as "lacy"; and white patches inside the mouth (oral |
xr |
X-linked recessive |
NHP2 |
https://ghr.nlm.nih.gov/gene/NHP2 |
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leukoplakia). |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C1851970 |
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html:p |
People with dyskeratosis congenita have an increased risk of developing several |
NOP10 |
https://ghr.nlm.nih.gov/gene/NOP10 |
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life-threatening conditions. They are especially vulnerable to disorders that |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1857144 |
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impair bone marrow function. These disorders disrupt the ability of the bone |
RTEL1 |
https://ghr.nlm.nih.gov/gene/RTEL1 |
db |
key |
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marrow to produce new blood cells. Affected individuals may develop aplastic |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
dkc |
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anemia, also known as bone marrow failure, which occurs when the bone marrow |
TERC |
https://ghr.nlm.nih.gov/gene/TERC |
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does not produce enough new blood cells. They are also at higher than average |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D019871 |
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risk for myelodysplastic syndrome, a condition in which immature blood cells |
TERT |
https://ghr.nlm.nih.gov/gene/TERT |
db |
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fail to develop normally; this condition may progress to a form of blood cancer |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
127550 |
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called leukemia. People with dyskeratosis congenita are also at increased risk |
TINF2 |
https://ghr.nlm.nih.gov/gene/TINF2 |
db |
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of developing leukemia even if they never develop myelodysplastic syndrome. In |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
224230 |
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addition, they have a higher than average risk of developing other cancers, |
WRAP53 |
https://ghr.nlm.nih.gov/gene/WRAP53 |
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especially cancers of the head, neck, anus, or genitals. |
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OMIM |
268130 |
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html:p |
People with dyskeratosis congenita may also develop pulmonary fibrosis, a |
db |
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condition that causes scar tissue (fibrosis) to build up in the lungs, |
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OMIM |
305000 |
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decreasing the transport of oxygen into the bloodstream. Additional signs and |
db |
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symptoms that occur in some people with dyskeratosis congenita include eye |
OMIM |
613987 |
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abnormalities such as narrow tear ducts that may become blocked, preventing |
db |
key |
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drainage of tears and leading to eyelid irritation; dental problems; hair loss |
OMIM |
613988 |
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or prematurely grey hair; low bone mineral density (osteoporosis); degeneration |
db |
key |
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(avascular necrosis) of the hip and shoulder joints; or liver disease. Some |
OMIM |
613989 |
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affected males may have narrowing (stenosis) of the urethra, which is the tube |
db |
key |
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that carries urine out of the body from the bladder. Urethral stenosis may lead |
OMIM |
613990 |
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to difficult or painful urination and urinary tract infections. |
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db |
key |
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html:p |
The severity of dyskeratosis congenita varies widely among affected individuals. |
OMIM |
615190 |
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The least severely affected individuals have only a few mild physical features |
db |
key |
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of the disorder and normal bone marrow function. More severely affected |
Orphanet |
1775 |
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individuals have many of the characteristic physical features and experience |
db |
key |
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bone marrow failure, cancer, or pulmonary fibrosis by early adulthood. |
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SNOMED CT |
74911008 |
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html:p |
While most people with dyskeratosis congenita have normal intelligence and |
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development of motor skills such as standing and walking, developmental delay |
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may occur in some severely affected individuals. In one severe form of the |
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disorder called Hoyeraal Hreidaarsson syndrome, affected individuals have an |
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unusually small and underdeveloped cerebellum, which is the part of the brain |
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that coordinates movement. Another severe variant called Revesz syndrome |
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involves abnormalities in the light-sensitive tissue at the back of the eye |
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(retina) in addition to the other symptoms of dyskeratosis congenita. |
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related-gene-list |
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Dystonia 6 |
https://ghr.nlm.nih.gov/condition/dystonia-6 |
The prevalence of dystonia 6 is unknown. Studies indicate that it likely |
html:p |
Dystonia 6 is one of many forms of dystonia, which is a group of conditions |
ad |
autosomal dominant |
THAP1 |
https://ghr.nlm.nih.gov/gene/THAP1 |
DYT6 |
db |
key |
2013-11 |
2017-12-29 |
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肌張力不全症六型 |
accounts for between 1 and 3 percent of all cases of dystonia. For reasons that |
characterized by involuntary movements, twisting (torsion) and tensing of |
DYT6 dystonia |
GTR |
C1414216 |
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are unclear, the disorder appears to be slightly more prevalent in females than |
various muscles, and unusual positioning of affected body parts. Dystonia 6 can |
idiopathic torsion dystonia of mixed type |
db |
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in males. |
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appear at any age from childhood through adulthood; the average age of onset is |
primary dystonia, DYT6 type |
GeneReviews |
dystonia-ov |
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18 |
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THAP1 dystonia |
db |
key |
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html:p |
The signs and symptoms of dystonia 6 vary among affected individuals. The |
torsion dystonia 6 |
ICD-10-CM |
G24.1 |
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disorder usually first impacts muscles of the head and neck, causing problems |
db |
key |
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with speaking (dysarthria) and eating (dysphagia). Eyelid twitching |
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MeSH |
D020821 |
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(blepharospasm) may also occur. Involvement of one or more limbs is common, and |
db |
key |
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in some cases occurs before the head and neck problems. Dystonia 6 gradually |
OMIM |
602629 |
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gets worse, and it may eventually involve most of the body. |
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db |
key |
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Orphanet |
98806 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
702448007 |
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Dystrophic epidermolysis bullosa |
https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa |
Considered together, the incidence of all types of dystrophic epidermolysis |
html:p |
Epidermolysis bullosa is a group of genetic conditions that cause the skin to be |
ad |
autosomal dominant |
COL7A1 |
https://ghr.nlm.nih.gov/gene/COL7A1 |
Epidermolysis Bullosa Dystrophica |
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2008-01 |
2017-12-29 |
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表皮溶解水皰症 |
bullosa is estimated to be 6.5 per million newborns in the United States. The |
very fragile and to blister easily. Blisters and skin erosions form in response |
code |
memo |
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Epidermolysis Bullosa, Dystrophic |
GTR |
C0079294 |
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severe autosomal recessive forms of this disorder affect fewer than 1 per |
to minor injury or friction, such as rubbing or scratching. Dystrophic |
ar |
autosomal recessive |
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million newborns. |
epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. |
GTR |
C0079474 |
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The signs and symptoms of this condition vary widely among affected individuals. |
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In mild cases, blistering may primarily affect the hands, feet, knees, and |
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GTR |
C0432322 |
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elbows. Severe cases of this condition involve widespread blistering that can |
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lead to vision loss, disfigurement, and other serious medical problems. |
GeneReviews |
ebd |
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html:p |
Researchers classify dystrophic epidermolysis bullosa into three major types. |
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Although the types differ in severity, their features overlap significantly and |
ICD-10-CM |
Q81.2 |
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they are caused by mutations in the same gene. |
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html:p |
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type |
MeSH |
D016108 |
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(RDEB-HS) is the most severe, classic form of the condition. Affected infants |
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are typically born with widespread blistering and areas of missing skin, often |
OMIM |
131750 |
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caused by trauma during birth. Most often, blisters are present over the whole |
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body and affect mucous membranes such as the moist lining of the mouth and |
OMIM |
226600 |
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digestive tract. As the blisters heal, they result in severe scarring. Scarring |
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in the mouth and esophagus can make it difficult to chew and swallow food, |
Orphanet |
303 |
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leading to chronic malnutrition and slow growth. Additional complications of |
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progressive scarring can include fusion of the fingers and toes, loss of |
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SNOMED CT |
111389006 |
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fingernails and toenails, joint deformities (contractures) that restrict |
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movement, and eye inflammation leading to vision loss. Additionally, young |
SNOMED CT |
254185007 |
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adults with the classic form of dystrophic epidermolysis bullosa have a very |
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high risk of developing a form of skin cancer called squamous cell carcinoma, |
SNOMED CT |
254186008 |
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which tends to be unusually aggressive and is often life-threatening. |
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html:p |
A second type of autosomal recessive dystrophic epidermolysis bullosa is known |
SNOMED CT |
254188009 |
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as the non-Hallopeau-Siemens type (non-HS RDEB). This form of the condition is |
db |
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somewhat less severe than the classic type and includes a range of subtypes. |
SNOMED CT |
48528004 |
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Blistering is limited to the hands, feet, knees, and elbows in mild cases, but |
db |
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may be widespread in more severe cases. Affected people often have malformed |
SNOMED CT |
75875004 |
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fingernails and toenails. Non-HS RDEB involves scarring in the areas where |
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blisters occur, but this form of the condition does not cause the severe |
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scarring characteristic of the classic type. |
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html:p |
The third major type of dystrophic epidermolysis bullosa is known as the |
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autosomal dominant type (DDEB). The signs and symptoms of this condition tend |
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to be milder than those of the autosomal recessive forms, with blistering often |
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limited to the hands, feet, knees, and elbows. The blisters heal with scarring, |
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but it is less severe. Most affected people have malformed fingernails and |
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toenails, and the nails may be lost over time. In the mildest cases, abnormal |
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nails are the only sign of the condition. |
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related-gene-list |
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Early infantile epileptic encephalopathy 1 |
https://ghr.nlm.nih.gov/condition/early-infantile-epileptic-encephalopathy-1 |
Infantile spasms are estimated to affect 1 to 1.6 in 100,000 individuals. |
html:p |
Early infantile epileptic encephalopathy 1 (EIEE1) is a seizure disorder |
xr |
X-linked recessive |
ARX |
https://ghr.nlm.nih.gov/gene/ARX |
early infantile epileptic encephalopathy-1 |
db |
key |
2017-11 |
2017-12-29 |
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早期婴幼儿癫痫性脑病 |
This estimate includes EIEE1 as well as infantile spasms that have other causes. |
characterized by a type of seizure known as infantile spasms. The spasms usually |
EIEE1 |
GTR |
C0037769 |
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appear before the age of 1. Several types of spasms have been described, but |
epileptic encephalopathy, early infantile, 1 |
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the most commonly reported type involves bending at the waist and neck and |
infantile epileptic-dyskinetic encephalopathy |
GTR |
C3463992 |
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extending the arms and legs (sometimes called a jackknife spasm). Each spasm |
ISSX |
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lasts only seconds, but they occur in clusters several minutes long. Although |
ISSX1 |
MeSH |
D038901 |
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individuals do not usually have spasms while they are sleeping, the spasms |
X-linked infantile spasm syndrome |
db |
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commonly occur just after awakening. Infantile spasms usually stop by age 5, but |
X-linked infantile spasm syndrome 1 |
OMIM |
308350 |
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many children then develop other types of seizures that recur throughout their |
X-linked Ohtahara syndrome |
db |
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lives. |
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X-linked West syndrome |
Orphanet |
3451 |
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html:p |
Most babies with EIEE1 have characteristic results on an electroencephalogram |
db |
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(EEG), a test used to measure the electrical activity of the brain. The EEG of |
SNOMED CT |
28055006 |
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these individuals typically shows an irregular pattern known as hypsarrhythmia, |
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and this finding can help differentiate infantile spasms from other types of |
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seizures. |
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html:p |
Because of the recurrent seizures, babies with EIEE1 stop developing normally |
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and begin to lose skills they have acquired (developmental regression), such as |
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sitting, rolling over, and babbling. Most affected individuals also have |
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intellectual disability throughout their lives. |
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Early-onset Alzheimer's disease |
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早發性阿茲海默症 |
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Early Onset Dystonia |
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早發型原發性肌張力不足症 |
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related-gene-list |
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Early-onset glaucoma |
https://ghr.nlm.nih.gov/condition/early-onset-glaucoma |
Primary congenital glaucoma affects approximately 1 in 10,000 people. Its |
html:p |
Glaucoma is a group of eye disorders in which the optic nerves connecting the |
ad |
autosomal dominant |
CYP1B1 |
https://ghr.nlm.nih.gov/gene/CYP1B1 |
hereditary glaucoma |
db |
key |
2009-02 |
2017-12-29 |
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早發性青光眼 |
frequency is higher in the Middle East. Juvenile open-angle glaucoma affects |
eyes and the brain are progressively damaged. This damage can lead to reduction |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0020302 |
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(Vision) |
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about 1 in 50,000 people. Primary open-angle glaucoma is much more common after |
in side (peripheral) vision and eventual blindness. Other signs and symptoms may |
ar |
autosomal recessive |
MYOC |
https://ghr.nlm.nih.gov/gene/MYOC |
db |
key |
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the age of 40, affecting about 1 percent of the population worldwide. |
include bulging eyes, excessive tearing, and abnormal sensitivity to light |
|
GTR |
C1842028 |
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(photophobia). The term "early-onset glaucoma" may be used when the disorder |
db |
key |
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appears before the age of 40. |
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GeneReviews |
glc |
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html:p |
In most people with glaucoma, the damage to the optic nerves is caused by |
db |
key |
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increased pressure within the eyes (intraocular pressure). Intraocular pressure |
ICD-10-CM |
Q15.0 |
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depends on a balance between fluid entering and leaving the eyes. |
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html:p |
Usually glaucoma develops in older adults, in whom the risk of developing the |
MeSH |
D005901 |
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disorder may be affected by a variety of medical conditions including high blood |
db |
key |
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pressure (hypertension) and diabetes mellitus, as well as family history. The |
OMIM |
137750 |
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risk of early-onset glaucoma depends mainly on heredity. |
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db |
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html:p |
Structural abnormalities that impede fluid drainage in the eye may be present at |
OMIM |
231300 |
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birth and usually become apparent during the first year of life. Such |
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abnormalities may be part of a genetic disorder that affects many body systems, |
Orphanet |
359 |
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called a syndrome. If glaucoma appears before the age of 5 without other |
db |
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associated abnormalities, it is called primary congenital glaucoma. |
SNOMED CT |
415176004 |
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html:p |
Other individuals experience early onset of primary open-angle glaucoma, the |
db |
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most common adult form of glaucoma. If primary open-angle glaucoma develops |
SNOMED CT |
71111008 |
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during childhood or early adulthood, it is called juvenile open-angle glaucoma. |
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related-gene-list |
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Early-onset myopathy with fatal cardiomyopathy |
https://ghr.nlm.nih.gov/condition/early-onset-myopathy-with-fatal-cardiomyopathy |
EOMFC appears to be a rare disorder, although its prevalence is unknown. It |
html:p |
Early-onset myopathy with fatal cardiomyopathy (EOMFC) is an inherited muscle |
ar |
autosomal recessive |
TTN |
https://ghr.nlm.nih.gov/gene/TTN |
EOMFC |
db |
key |
2016-12 |
2017-12-29 |
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has been reported in a small number of families of Moroccan and Sudanese |
disease that affects the skeletal muscles, which are used for movement, and the |
Salih CMD |
GTR |
C2673677 |
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descent. |
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heart (cardiac) muscle. This condition is characterized by skeletal muscle |
Salih congenital muscular dystrophy 先天性肌失養症 |
db |
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weakness that becomes apparent in early infancy. Affected individuals have |
Salih myopathy |
GeneReviews |
salih-myo |
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delayed development of motor skills, such as sitting, standing, and walking. |
titinopathy & early-onset myopathy with fatal cardiomyopathy |
db |
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Beginning later in childhood, people with EOMFC may also develop joint |
|
MeSH |
D009135 |
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deformities called contractures that restrict the movement of the neck and back. |
db |
key |
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Scoliosis, which is an abnormal side-to-side curvature of the spine, also |
|
OMIM |
611705 |
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develops in late childhood. |
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html:p |
A form of heart disease called dilated cardiomyopathy is another feature of |
Orphanet |
289377 |
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EOMFC. Dilated cardiomyopathy enlarges and weakens the cardiac muscle, |
db |
key |
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preventing the heart from pumping blood efficiently. Signs and symptoms of this |
SNOMED CT |
702343002 |
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condition can include an irregular heartbeat (arrhythmia), shortness of breath, |
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extreme tiredness (fatigue), and swelling of the legs and feet. The heart |
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abnormalities associated with EOMFC usually become apparent in childhood, after |
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the skeletal muscle abnormalities. The heart disease worsens quickly, and it |
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often causes heart failure and sudden death in adolescence or early adulthood. |
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related-gene-list |
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Early-onset primary dystonia |
https://ghr.nlm.nih.gov/condition/early-onset-primary-dystonia |
Early-onset primary dystonia is among the most common forms of childhood |
html:p |
Early-onset primary dystonia is a condition characterized by progressive |
ad |
autosomal dominant |
TOR1A |
https://ghr.nlm.nih.gov/gene/TOR1A |
Dystonia musculorum deformans 1 |
db |
key |
2008-05 |
2017-12-29 |
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第一型肌張力不全症 |
dystonia. This disorder occurs most frequently in people of Ashkenazi (central |
problems with movement, typically beginning in childhood. Dystonia is a |
DYT1 |
GTR |
C1851945 |
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and eastern European) Jewish heritage, affecting 1 in 3,000 to 9,000 people in |
movement disorder that involves involuntary tensing of the muscles (muscle |
Early-onset generalized torsion dystonia |
db |
key |
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this population. The condition is less common among people with other |
contractions), twisting of specific body parts such as an arm or a leg, rhythmic |
Oppenheim dystonia |
GeneReviews |
dystonia |
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backgrounds; it is estimated to affect 1 in 10,000 to 30,000 non-Jewish people |
shaking (tremors), and other uncontrolled movements. A primary dystonia is one |
Oppenheim's dystonia |
db |
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worldwide. |
that occurs without other neurological symptoms, such as seizures or a loss of |
Primary torsion dystonia |
ICD-10-CM |
G24.1 |
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intellectual function (dementia). Early-onset primary dystonia does not affect |
db |
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a person's intelligence. |
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MeSH |
D020821 |
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On average, the signs and symptoms of early-onset primary dystonia appear around |
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age 12. Abnormal muscle spasms in an arm or a leg are usually the first sign. |
OMIM |
128100 |
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These unusual movements initially occur while a person is doing a specific |
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action, such as writing or walking. In some affected people, dystonia later |
Orphanet |
256 |
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spreads to other parts of the body and may occur at rest. The abnormal |
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movements persist throughout life, but they do not usually cause pain. |
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SNOMED CT |
22451001 |
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html:p |
The signs and symptoms of early-onset primary dystonia vary from person to |
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person, even among affected members of the same family. The mildest cases |
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affect only a single part of the body, causing isolated problems such as a |
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writer's cramp in the hand. Severe cases involve abnormal movements affecting |
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many regions of the body. |
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Ectodermal Dysplasias |
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外胚層增生不良症 |
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related-gene-list |
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Ehlers-Danlos syndrome |
https://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome |
The combined prevalence of all types of Ehlers-Danlos syndrome appears to |
html:p |
Ehlers-Danlos syndrome is a group of disorders that affect connective tissues |
ad |
autosomal dominant |
ADAMTS2 |
https://ghr.nlm.nih.gov/gene/ADAMTS2 |
EDS |
db |
key |
2017-11 |
2017-12-29 |
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先天结缔组织异常 |
be at least 1 in 5,000 individuals worldwide. The hypermobile and classical |
supporting the skin, bones, blood vessels, and many other organs and tissues. |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Ehlers Danlos disease |
GTR |
C0013720 |
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埃勒斯-當洛二氏症候群 |
forms are most common; the hypermobile type may affect as many as 1 in 5,000 to |
Defects in connective tissues cause the signs and symptoms of these conditions, |
ar |
autosomal recessive |
B3GALT6 |
https://ghr.nlm.nih.gov/gene/B3GALT6 |
db |
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20,000 people, while the classical type probably occurs in 1 in 20,000 to 40,000 |
which range from mildly loose joints to life-threatening complications. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0220679 |
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people. Other forms of Ehlers-Danlos syndrome are rare, often with only a few |
html:p |
The various forms of Ehlers-Danlos syndrome have been classified in several |
B4GALT7 |
https://ghr.nlm.nih.gov/gene/B4GALT7 |
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cases or affected families described in the medical literature. |
different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0268335 |
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Roman numerals to indicate the types (type I, type II, and so on). In 1997, |
C1R |
https://ghr.nlm.nih.gov/gene/C1R |
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researchers proposed a simpler classification (the Villefranche nomenclature) |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0268337 |
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that reduced the number of types to six and gave them descriptive names based on |
C1S |
https://ghr.nlm.nih.gov/gene/C1S |
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their major features. In 2017, the classification was updated to include rare |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0268338 |
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forms of Ehlers-Danlos syndrome that were discovered more recently. The 2017 |
CHST14 |
https://ghr.nlm.nih.gov/gene/CHST14 |
db |
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classification describes 13 types of Ehlers-Danlos syndrome. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0268341 |
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html:p |
An unusually large range of joint movement (hypermobility) occurs in most forms |
COL1A1 |
https://ghr.nlm.nih.gov/gene/COL1A1 |
db |
key |
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of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0268342 |
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Infants and children with hypermobility often have weak muscle tone |
COL1A2 |
https://ghr.nlm.nih.gov/gene/COL1A2 |
db |
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(hypotonia), which can delay the development of motor skills such as sitting, |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0268345 |
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standing, and walking. The loose joints are unstable and prone to dislocation |
COL3A1 |
https://ghr.nlm.nih.gov/gene/COL3A1 |
db |
key |
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and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0268347 |
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have hypermobility and dislocations of both hips at birth. |
COL5A1 |
https://ghr.nlm.nih.gov/gene/COL5A1 |
db |
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html:p |
Many people with the Ehlers-Danlos syndromes have soft, velvety skin that is |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0268349 |
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highly stretchy (elastic) and fragile. Affected individuals tend to bruise |
COL5A2 |
https://ghr.nlm.nih.gov/gene/COL5A2 |
db |
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easily, and some types of the condition also cause abnormal scarring. People |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1837462 |
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with the classical form of Ehlers-Danlos syndrome experience wounds that split |
COL12A1 |
https://ghr.nlm.nih.gov/gene/COL12A1 |
db |
key |
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open with little bleeding and leave scars that widen over time to create |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1851801 |
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characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder |
DSE |
https://ghr.nlm.nih.gov/gene/DSE |
db |
key |
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is characterized by loose skin that sags and wrinkles, and extra (redundant) |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1857034 |
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folds of skin may be present. |
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FKBP14 |
https://ghr.nlm.nih.gov/gene/FKBP14 |
db |
key |
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html:p |
Some forms of Ehlers-Danlos syndrome, notably the vascular type and to a lesser |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1857038 |
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extent the kyphoscoliotic, classical, and classical-like types, can cause |
PLOD1 |
https://ghr.nlm.nih.gov/gene/PLOD1 |
db |
key |
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unpredictable tearing (rupture) of blood vessels, leading to internal bleeding |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1866294 |
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and other potentially life-threatening complications. The vascular type of |
PRDM5 |
https://ghr.nlm.nih.gov/gene/PRDM5 |
db |
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Ehlers-Danlos syndrome is also associated with an increased risk of organ |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1869122 |
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rupture, including tearing of the intestine and rupture of the uterus during |
SLC39A13 |
https://ghr.nlm.nih.gov/gene/SLC39A13 |
db |
key |
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pregnancy. |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2700425 |
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html:p |
Other types of Ehlers-Danlos syndrome have additional signs and symptoms. The |
TNXB |
https://ghr.nlm.nih.gov/gene/TNXB |
db |
key |
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cardiac-valvular type causes severe problems with the valves that control the |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3281160 |
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movement of blood through the heart. People with the kyphoscoliotic type |
ZNF469 |
https://ghr.nlm.nih.gov/gene/ZNF469 |
db |
key |
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experience severe curvature of the spine that worsens over time and can |
GTR |
C3809210 |
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interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos |
db |
key |
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syndrome called brittle cornea syndrome is characterized by thinness of the |
GTR |
C3809845 |
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clear covering of the eye (the cornea) and other eye abnormalities. The |
|
db |
key |
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spondylodysplastic type features short stature and skeletal abnormalities such |
GTR |
C4310681 |
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as abnormally curved (bowed) limbs. Abnormalities of muscles, including |
db |
key |
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hypotonia and permanently bent joints (contractures), are among the |
|
GTR |
CN071419 |
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characteristic signs of the musculocontractural and myopathic forms of |
|
db |
key |
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Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth |
GTR |
CN071423 |
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and gums. |
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db |
key |
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GTR |
CN071434 |
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db |
key |
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GeneReviews |
eds |
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db |
key |
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GeneReviews |
eds3 |
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db |
key |
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GeneReviews |
eds4 |
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db |
key |
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GeneReviews |
eds6 |
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db |
key |
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ICD-10-CM |
Q79.6 |
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db |
key |
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MeSH |
D004535 |
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db |
key |
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|
OMIM |
130000 |
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db |
key |
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|
OMIM |
130020 |
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db |
key |
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|
OMIM |
130050 |
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db |
key |
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|
OMIM |
130060 |
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db |
key |
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|
OMIM |
130070 |
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db |
key |
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|
OMIM |
130080 |
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db |
key |
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|
OMIM |
130090 |
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db |
key |
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|
OMIM |
225310 |
|
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db |
key |
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|
OMIM |
225320 |
|
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db |
key |
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|
OMIM |
225400 |
|
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db |
key |
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|
OMIM |
225410 |
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db |
key |
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|
OMIM |
229200 |
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db |
key |
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|
OMIM |
305200 |
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db |
key |
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|
OMIM |
601776 |
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db |
key |
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|
OMIM |
606408 |
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db |
key |
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|
OMIM |
608763 |
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db |
key |
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|
OMIM |
614557 |
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db |
key |
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|
|
OMIM |
615349 |
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db |
key |
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OMIM |
615539 |
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db |
key |
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|
OMIM |
617174 |
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db |
key |
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Orphanet |
98249 |
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db |
key |
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SNOMED CT |
17025000 |
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db |
key |
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SNOMED CT |
20766005 |
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db |
key |
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SNOMED CT |
25606004 |
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db |
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SNOMED CT |
30652003 |
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db |
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SNOMED CT |
398114001 |
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db |
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SNOMED CT |
55711009 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
83470009 |
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Ellis-van Creveld syndrome |
https://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome |
In most parts of the world, Ellis-van Creveld syndrome occurs in 1 in |
html:p |
Ellis-van Creveld syndrome is an inherited disorder of bone growth that results |
ar |
autosomal recessive |
EVC |
https://ghr.nlm.nih.gov/gene/EVC |
chondroectodermal dysplasia |
db |
key |
2012-12 |
2017-12-29 |
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埃利偉氏症候群 |
60,000 to 200,000 newborns. It is difficult to estimate the exact prevalence |
in very short stature (dwarfism). People with this condition have particularly |
related-gene |
gene-symbol |
ghr-page |
Ellis-van Creveld dysplasia |
GTR |
C0013903 |
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because the disorder is very rare in the general population. This condition is |
short forearms and lower legs and a narrow chest with short ribs. Ellis-van |
EVC2 |
https://ghr.nlm.nih.gov/gene/EVC2 |
db |
key |
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much more common in the Old Order Amish population of Lancaster County, |
Creveld syndrome is also characterized by the presence of extra fingers and toes |
ICD-10-CM |
Q77.6 |
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Pennsylvania, and in the indigenous (native) population of Western Australia. |
(polydactyly), malformed fingernails and toenails, and dental abnormalities. |
db |
key |
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More than half of affected individuals are born with a heart defect, which can |
MeSH |
D004613 |
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cause serious or life-threatening health problems. |
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db |
key |
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html:p |
The features of Ellis-van Creveld syndrome overlap with those of another, milder |
OMIM |
225500 |
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condition called Weyers acrofacial dysostosis. Like Ellis-van Creveld syndrome, |
db |
key |
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Weyers acrofacial dysostosis involves tooth and nail abnormalities, although |
Orphanet |
289 |
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affected individuals have less pronounced short stature and typically do not |
db |
key |
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have heart defects. The two conditions are caused by mutations in the same |
SNOMED CT |
62501005 |
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genes. |
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related-gene-list |
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|
Emanuel syndrome |
https://ghr.nlm.nih.gov/condition/emanuel-syndrome |
Emanuel syndrome is a rare disorder; its prevalence is unknown. More than |
html:p |
Emanuel syndrome is a chromosomal disorder that disrupts normal development and |
ad |
autosomal dominant |
11 |
https://ghr.nlm.nih.gov/chromosome/11 |
Der(22) syndrome due to 3:1 meiotic disjunction events |
db |
key |
2017-01 |
2017-12-29 |
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100 individuals with this condition have been reported. |
affects many parts of the body. Infants with Emanuel syndrome have weak muscle |
related-chromosome |
name |
ghr-page |
supernumerary der(22) syndrome |
GTR |
C1836929 |
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tone (hypotonia) and fail to gain weight and grow at the expected rate (failure |
22 |
https://ghr.nlm.nih.gov/chromosome/22 |
supernumerary der(22)t(11;22) syndrome |
db |
key |
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to thrive). Their development is significantly delayed, and most affected |
supernumerary derivative 22 chromosome syndrome |
GeneReviews |
emanuel |
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individuals have severe to profound intellectual disability. |
|
|
db |
key |
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html:p |
Other features of Emanuel syndrome include an unusually small head |
|
MeSH |
D025063 |
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(microcephaly), distinctive facial features, and a small lower jaw |
|
db |
key |
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(micrognathia). Ear abnormalities are common, including small holes in the skin |
OMIM |
609029 |
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just in front of the ears (preauricular pits or sinuses). About half of all |
|
db |
key |
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affected infants are born with an opening in the roof of the mouth (cleft |
|
Orphanet |
96170 |
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palate) or a high arched palate. Males with Emanuel syndrome often have genital |
db |
key |
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abnormalities. Additional signs of this condition can include heart defects |
SNOMED CT |
702417004 |
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and absent or unusually small (hypoplastic) kidneys; these problems can be |
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life-threatening in infancy or childhood. |
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related-gene-list |
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Emery-Dreifuss muscular dystrophy |
https://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy |
The overall prevalence of Emery-Dreifuss muscular dystrophy is unknown. The |
html:p |
Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles |
ad |
autosomal dominant |
EMD |
https://ghr.nlm.nih.gov/gene/EMD |
benign scapuloperoneal muscular dystrophy with early contractures |
db |
key |
2017-06 |
2017-12-29 |
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Emery-Dreifuss肌肉失養症 |
X-linked type of this disorder affects an estimated 1 in 100,000 people. The |
used for movement (skeletal muscles) and the heart (cardiac muscle). Among the |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
EDMD |
GTR |
C0410189 |
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prevalence of the autosomal dominant type is unknown, although it appears to be |
earliest features of this disorder are joint deformities called contractures. |
ar |
autosomal recessive |
FHL1 |
https://ghr.nlm.nih.gov/gene/FHL1 |
Emery-Dreifuss syndrome |
db |
key |
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more common than the X-linked type. The autosomal recessive type appears to be |
Contractures restrict the movement of certain joints, most often the elbows, |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
muscular dystrophy, Emery-Dreifuss type |
GeneReviews |
edmd |
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very rare; only a few cases have been reported worldwide. |
ankles, and neck, and usually become noticeable in early childhood. Most |
xr |
X-linked recessive |
LMNA |
https://ghr.nlm.nih.gov/gene/LMNA |
db |
key |
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affected individuals also experience muscle weakness and wasting that worsen |
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D020389 |
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slowly over time, beginning in muscles of the upper arms and lower legs and |
SYNE1 |
https://ghr.nlm.nih.gov/gene/SYNE1 |
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later also affecting muscles in the shoulders and hips. |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
181350 |
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html:p |
Almost all people with Emery-Dreifuss muscular dystrophy develop heart problems |
SYNE2 |
https://ghr.nlm.nih.gov/gene/SYNE2 |
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by adulthood. In many cases, these heart problems are abnormalities of the |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
310300 |
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electrical signals that control the heartbeat (cardiac conduction defects) and |
TMEM43 |
https://ghr.nlm.nih.gov/gene/TMEM43 |
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abnormal heart rhythms (arrhythmias). If untreated, these abnormalities can lead |
OMIM |
612998 |
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to a sensation of fluttering or pounding in the chest (palpitations), an |
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unusually slow heartbeat (bradycardia), fainting (syncope), heart failure, and |
OMIM |
612999 |
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an increased risk of sudden death. |
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html:p |
Researchers have identified several types of Emery-Dreifuss muscular dystrophy |
OMIM |
614302 |
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that are distinguished by their pattern of inheritance: X-linked, autosomal |
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dominant, and autosomal recessive. The types usually have similar signs and |
OMIM |
616516 |
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symptoms, although a small percentage of people with the autosomal dominant form |
db |
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experience heart problems without any weakness or wasting of skeletal muscles. |
Orphanet |
261 |
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Orphanet |
98853 |
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Orphanet |
98855 |
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Orphanet |
98863 |
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related-gene-list |
|
SNOMED CT |
111508004 |
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Encephalocraniocutaneous lipomatosis |
https://ghr.nlm.nih.gov/condition/encephalocraniocutaneous-lipomatosis |
ECCL is a rare disorder. Fewer than 60 cases have been reported in the |
html:p |
Encephalocraniocutaneous lipomatosis (ECCL) is a rare condition that primarily |
n |
not inherited |
FGFR1 |
https://ghr.nlm.nih.gov/gene/FGFR1 |
ECCL |
db |
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2016-11 |
2017-12-29 |
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腦性肌皮膚脂肪瘤 |
medical literature. |
affects the brain, eyes, and skin of the head and face. Most of this condition's |
Fishman syndrome (formerly) |
GTR |
C0406612 |
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signs and symptoms are present from birth, and they vary widely among affected |
Haberland syndrome (formerly) |
db |
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individuals. |
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MeSH |
D005128 |
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html:p |
A hallmark feature of ECCL is a noncancerous tumor under the scalp covered by a |
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smooth, hairless patch of skin. This type of tumor, called a nevus psiloliparus, |
MeSH |
D008068 |
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is made up of fatty tissue. Some people with ECCL also have noncancerous tumors |
db |
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under the skin elsewhere on the head or face. Many have small flaps of skin |
MeSH |
D020752 |
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called skin tags on the eyelids and around the eyes. Hair loss (alopecia), thin |
db |
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or missing patches of skin on the scalp (dermal hypoplasia or aplasia), and |
OMIM |
613001 |
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changes in skin coloring (pigmentation) are also possible. |
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html:p |
The most common eye abnormality in ECCL is a noncancerous growth called a |
Orphanet |
2396 |
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choristoma. These growths can be present in one or both eyes and may affect |
db |
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vision. |
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SNOMED CT |
238905009 |
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html:p |
About two-thirds of people with ECCL have noncancerous fatty tumors inside the |
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brain or around the spinal cord. These tumors are called intracranial lipomas |
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and intraspinal lipomas, respectively. Affected individuals also have an |
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increased risk of developing a type of brain cancer called a glioma. The brain |
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and spinal cord abnormalities associated with ECCL can cause seizures, abnormal |
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tensing of the muscles, and intellectual disability ranging from mild to |
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profound. However, about one-third of affected individuals have normal |
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intelligence. |
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html:p |
Other kinds of growths may also occur in people with ECCL, including |
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noncancerous jaw tumors. |
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related-gene-list |
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Enlarged parietal foramina |
https://ghr.nlm.nih.gov/condition/enlarged-parietal-foramina |
The prevalence of enlarged parietal foramina is estimated to be 1 in 15,000 |
html:p |
Enlarged parietal foramina is an inherited condition of impaired skull |
ad |
autosomal dominant |
ALX4 |
https://ghr.nlm.nih.gov/gene/ALX4 |
Catlin marks |
db |
key |
2016-03 |
2017-12-29 |
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to 50,000 individuals. |
development. It is characterized by enlarged openings (foramina) in the parietal |
related-gene |
gene-symbol |
ghr-page |
cranium bifidum |
GTR |
C1865044 |
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bones, which are the two bones that form the top and sides of the skull. This |
MSX2 |
https://ghr.nlm.nih.gov/gene/MSX2 |
cranium bifidum occultum |
db |
key |
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condition is due to incomplete bone formation (ossification) within the parietal |
fenestrae parietals symmetricae |
GTR |
C1868598 |
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bones. The openings are symmetrical and circular in shape, ranging in size from |
foramina parietalia permagna |
db |
key |
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a few millimeters to several centimeters wide. Parietal foramina are a normal |
FPP |
GTR |
C1868599 |
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feature of fetal development, but typically they close before the baby is born, |
giant parietal foramina |
db |
key |
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usually by the fifth month of pregnancy. However, in people with this condition, |
hereditary cranium bifidum |
GeneReviews |
msx2 |
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the parietal foramina remain open throughout life. |
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parietal foramina |
db |
key |
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html:p |
The enlarged parietal foramina are soft to the touch due to the lack of bone at |
PFM |
MeSH |
D004413 |
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those areas of the skull. People with enlarged parietal foramina usually do not |
symmetric parietal foramina |
db |
key |
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have any related health problems; however, scalp defects, seizures, and |
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OMIM |
168500 |
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structural brain abnormalities have been noted in a small percentage of affected |
db |
key |
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people. Pressure applied to the openings can lead to severe headaches, and |
OMIM |
609597 |
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individuals with this condition have an increased risk of brain damage or skull |
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fractures if any trauma is experienced in the area of the openings. |
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Orphanet |
60015 |
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html:p |
There are two forms of enlarged parietal foramina, called type 1 and type 2, |
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which differ in their genetic cause. |
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SNOMED CT |
718099006 |
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related-gene-list |
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Eosinophil peroxidase deficiency |
https://ghr.nlm.nih.gov/condition/eosinophil-peroxidase-deficiency |
Approximately 100 individuals with eosinophil peroxidase deficiency have |
html:p |
Eosinophil peroxidase deficiency is a condition that affects certain white blood |
ar |
autosomal recessive |
EPX |
https://ghr.nlm.nih.gov/gene/EPX |
EPXD |
db |
key |
2014-12 |
2017-12-29 |
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嗜酸性粒細胞過氧化物酶缺乏症 |
been described in the scientific literature. Based on blood test data, varying |
cells called eosinophils but causes no health problems in affected individuals. |
peroxidase and phospholipid deficiency in eosinophils |
GTR |
C1850000 |
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estimates of the prevalence of the condition have been reported in specific |
Eosinophils aid in the body's immune response. During a normal immune response, |
Presentey anomaly |
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key |
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populations. Eosinophil peroxidase deficiency is estimated to occur in 8.6 in |
these cells are turned on (activated), and they travel to the area of injury or |
MeSH |
D007960 |
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1,000 Yemenite Jews, in 3 in 1,000 North-African Jews, and in 1 in 1,000 Iraqi |
inflammation. The cells then release proteins and other compounds that have a |
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key |
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Jews. In northeastern Italy, the condition occurs in approximately 1 in 14,000 |
toxic effect on severely damaged cells or invading organisms. One of these |
OMIM |
261500 |
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individuals; in Japan it occurs in 1 in 36,000 people; and in Luxembourg, |
proteins is called eosinophil peroxidase. In eosinophil peroxidase deficiency, |
db |
key |
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eosinophil peroxidase deficiency is thought to occur in 1 in 100,000 people. |
eosinophils have little or no eosinophil peroxidase. A lack of this protein does |
SNOMED CT |
711160007 |
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not seem to affect the eosinophils' ability to carry out an immune response. |
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html:p |
Because eosinophil peroxidase deficiency does not cause any health problems, |
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this condition is often diagnosed when blood tests are done for other reasons or |
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when a family member has been diagnosed with the condition. |
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related-gene-list |
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Epidermal nevus |
https://ghr.nlm.nih.gov/condition/epidermal-nevus |
Epidermal nevi are estimated to occur in 1 to 3 in 1,000 people. |
html:p |
An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of |
n |
not inherited |
FGFR2 |
https://ghr.nlm.nih.gov/gene/FGFR2 |
epidermal naevus |
db |
key |
2016-08 |
2017-12-29 |
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表皮痣 |
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skin caused by an overgrowth of cells in the outermost layer of skin |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0334082 |
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(epidermis). Epidermal nevi are typically seen at birth or develop in early |
FGFR3 |
https://ghr.nlm.nih.gov/gene/FGFR3 |
db |
key |
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childhood. Affected individuals have one or more nevi that vary in size. |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D009506 |
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html:p |
There are several types of epidermal nevus that are defined in part by the type |
HRAS |
https://ghr.nlm.nih.gov/gene/HRAS |
db |
key |
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of epidermal cell involved. The epidermis is composed primarily of a specific |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
162900 |
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cell type called a keratinocyte. One group of epidermal nevi, called |
KRAS |
https://ghr.nlm.nih.gov/gene/KRAS |
db |
key |
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keratinocytic or nonorganoid epidermal nevi, includes nevi that involve only |
related-gene |
gene-symbol |
ghr-page |
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Orphanet |
35125 |
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keratinocytes. Keratinocytic epidermal nevi are typically found on the torso or |
NRAS |
https://ghr.nlm.nih.gov/gene/NRAS |
db |
key |
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limbs. They can be flat, tan or brown patches of skin or raised, velvety |
related-gene |
gene-symbol |
ghr-page |
|
SNOMED CT |
239107007 |
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patches. As affected individuals age, the nevi can become thicker and darker and |
PIK3CA |
https://ghr.nlm.nih.gov/gene/PIK3CA |
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develop a wart-like (verrucous) appearance. Often, keratinocytic epidermal nevi |
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follow a pattern on the skin known as the lines of Blaschko. The lines of |
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Blaschko, which are normally invisible on skin, are thought to follow the paths |
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along which cells migrate as the skin develops before birth. Keratinocytic |
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epidermal nevi are also known as linear epidermal nevi or verrucous epidermal |
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nevi, based on characteristics of their appearance. |
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html:p |
Other types of epidermal nevi involve additional types of epidermal cells, such |
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as the cells that make up the hair follicles, the sweat glands, or the sebaceous |
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glands (glands in the skin that produce a substance that protects the skin and |
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hair). These nevi comprise a group called organoid epidermal nevi. A common type |
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of organoid epidermal nevus is called nevus sebaceous. Nevi in this group are |
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waxy, yellow-orange patches of skin, usually on the scalp or face. The patch is |
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typically hairless, leaving a distinct region of baldness (alopecia). Similar to |
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keratinocytic epidermal nevi, nevi sebaceous can become thicker and more |
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verrucous over time. In about one-quarter of people with a nevus sebaceous, a |
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tumor forms in the same region as the nevus. The tumor is usually benign, |
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although rarely cancerous (malignant) tumors develop. |
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html:p |
Some affected individuals have only an epidermal nevus and no other |
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abnormalities. However, sometimes people with an epidermal nevus also have |
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problems in other body systems, such as the brain, eyes, or bones. In these |
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cases, the affected individual has a condition called an epidermal nevus |
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syndrome. There are several different epidermal nevus syndromes characterized by |
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the type of epidermal nevus involved. |
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related-gene-list |
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Epidermolysis bullosa simplex |
https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex |
The exact prevalence of epidermolysis bullosa simplex is unknown, but this |
html:p |
Epidermolysis bullosa simplex is one of a group of genetic conditions called |
ad |
autosomal dominant |
KRT5 |
https://ghr.nlm.nih.gov/gene/KRT5 |
EBS |
db |
key |
2013-05 |
2017-12-29 |
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表皮分解性水皰症 (泡泡龍) |
condition is estimated to affect 1 in 30,000 to 50,000 people. The localized |
epidermolysis bullosa that cause the skin to be very fragile and to blister |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0079295 |
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type is the most common form of the condition. |
easily. Blisters and areas of skin loss (erosions) occur in response to minor |
ar |
autosomal recessive |
KRT14 |
https://ghr.nlm.nih.gov/gene/KRT14 |
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injury or friction, such as rubbing or scratching. Epidermolysis bullosa simplex |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0079298 |
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is one of the major forms of epidermolysis bullosa. The signs and symptoms of |
PLEC |
https://ghr.nlm.nih.gov/gene/PLEC |
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this condition vary widely among affected individuals. Blistering primarily |
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GTR |
C0079299 |
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affects the hands and feet in mild cases, and the blisters usually heal without |
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leaving scars. Severe cases of this condition involve widespread blistering that |
GTR |
C0080333 |
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can lead to infections, dehydration, and other medical problems. Severe cases |
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may be life-threatening in infancy. |
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GTR |
C0432316 |
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html:p |
Researchers have identified four major types of epidermolysis bullosa simplex. |
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Although the types differ in severity, their features overlap significantly, and |
GTR |
C0432317 |
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they are caused by mutations in the same genes. Most researchers now consider |
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the major forms of this condition to be part of a single disorder with a range |
GTR |
C1832926 |
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of signs and symptoms. |
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html:p |
The mildest form of epidermolysis bullosa simplex, known as the localized type |
GeneReviews |
ebs |
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(formerly called the Weber-Cockayne type), is characterized by skin blistering |
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that begins anytime between childhood and adulthood and is usually limited to |
ICD-10-CM |
Q81.0 |
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the hands and feet. Later in life, skin on the palms of the hands and soles of |
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the feet may thicken and harden (hyperkeratosis). |
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MeSH |
D016110 |
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html:p |
The Dowling-Meara type is the most severe form of epidermolysis bullosa simplex. |
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Extensive, severe blistering can occur anywhere on the body, including the |
OMIM |
131760 |
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inside of the mouth, and blisters may appear in clusters. Blistering is present |
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from birth and tends to improve with age. Affected individuals also experience |
OMIM |
131800 |
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abnormal nail growth and hyperkeratosis of the palms and soles. |
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html:p |
Another form of epidermolysis bullosa simplex, known as the other generalized |
OMIM |
131900 |
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type (formerly called the Koebner type), is associated with widespread blisters |
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that appear at birth or in early infancy. The blistering tends to be less severe |
OMIM |
131950 |
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than in the Dowling-Meara type. |
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html:p |
Epidermolysis bullosa simplex with mottled pigmentation is characterized by |
OMIM |
131960 |
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patches of darker skin on the trunk, arms, and legs that fade in adulthood. This |
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form of the disorder also involves skin blistering from early infancy, |
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OMIM |
601001 |
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hyperkeratosis of the palms and soles, and abnormal nail growth. |
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html:p |
In addition to the four major types described above, researchers have identified |
OMIM |
609352 |
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another skin condition related to epidermolysis bullosa simplex, which they |
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call the Ogna type. It is caused by mutations in a gene that is not associated |
Orphanet |
304 |
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with the other types of epidermolysis bullosa simplex. It is unclear whether |
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the Ogna type is a subtype of epidermolysis bullosa simplex or represents a |
SNOMED CT |
254180002 |
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separate form of epidermolysis bullosa. |
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html:p |
Several other variants of epidermolysis bullosa simplex have been proposed, but |
SNOMED CT |
398071000 |
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they appear to be very rare. |
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SNOMED CT |
67144006 |
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db |
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related-gene-list |
|
SNOMED CT |
90496008 |
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Epidermolysis bullosa with pyloric atresia |
https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-with-pyloric-atresia |
EB-PA appears to be a rare condition, although its prevalence is unknown. |
html:p |
Epidermolysis bullosa with pyloric atresia (EB-PA) is a condition that affects |
ar |
autosomal recessive |
ITGA6 |
https://ghr.nlm.nih.gov/gene/ITGA6 |
Carmi syndrome |
db |
key |
2009-09 |
2017-12-29 |
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At least 50 affected individuals have been reported worldwide. |
the skin and digestive tract. This condition is one of several forms of |
related-gene |
gene-symbol |
ghr-page |
EB-PA |
GTR |
C1856934 |
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epidermolysis bullosa, a group of genetic conditions that cause the skin to be |
ITGB4 |
https://ghr.nlm.nih.gov/gene/ITGB4 |
junctional epidermolysis bullosa with pyloric atresia |
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fragile and to blister easily. Affected infants are often born with widespread |
related-gene |
gene-symbol |
ghr-page |
PA-JEB |
GTR |
C2677349 |
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blistering and areas of missing skin. Blisters continue to appear in response to |
PLEC |
https://ghr.nlm.nih.gov/gene/PLEC |
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minor injury or friction, such as rubbing or scratching. Most often, blisters |
GeneReviews |
eb-pa |
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occur over the whole body and affect mucous membranes such as the moist lining |
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of the mouth and digestive tract. |
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ICD-10-CM |
Q81.0 |
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html:p |
People with EB-PA are also born with pyloric atresia, which is an obstruction of |
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the lower part of the stomach (the pylorus). This obstruction prevents food |
MeSH |
D004820 |
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from emptying out of the stomach into the intestine. Signs of pyloric atresia |
db |
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include vomiting, a swollen (distended) abdomen, and an absence of stool. |
OMIM |
226730 |
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Pyloric atresia is life-threatening and must be repaired with surgery soon after |
db |
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birth. |
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OMIM |
612138 |
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html:p |
Other complications of EB-PA can include fusion of the skin between the fingers |
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and toes, abnormalities of the fingernails and toenails, joint deformities |
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(contractures) that restrict movement, and hair loss (alopecia). Some affected |
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individuals are also born with malformations of the urinary tract, including the |
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kidneys and bladder. |
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Because the signs and symptoms of EB-PA are so severe, many infants with this |
SNOMED CT |
53748002 |
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condition do not survive beyond the first year of life. In those who survive, |
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the condition may improve with time; some affected individuals have little or no |
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blistering later in life. However, many affected individuals who live past |
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infancy experience severe medical problems, including blistering and the |
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formation of red, bumpy patches called granulation tissue. Granulation tissue |
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most often forms on the skin around the mouth, nose, fingers, and toes. It can |
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also build up in the airway, leading to difficulty breathing. |
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related-gene-list |
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Epidermolytic hyperkeratosis |
https://ghr.nlm.nih.gov/condition/epidermolytic-hyperkeratosis |
Epidermolytic hyperkeratosis affects approximately 1 in 200,000 to 300,000 |
html:p |
Epidermolytic hyperkeratosis is a skin disorder that is present at birth. |
ad |
autosomal dominant |
KRT1 |
https://ghr.nlm.nih.gov/gene/KRT1 |
BCIE |
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2011-11 |
2017-12-29 |
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Bullous congenital ichthyosiform erythroderma |
people worldwide. |
Affected babies may have very red skin (erythroderma) and severe blisters. |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
BIE |
GTR |
C0079153 |
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水泡型先天性魚鱗癬樣紅皮症 |
Because newborns with this disorder are missing the protection provided by |
ar |
autosomal recessive |
KRT10 |
https://ghr.nlm.nih.gov/gene/KRT10 |
bullous congenital ichthyosiform erythroderma |
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normal skin, they are at risk of becoming dehydrated and developing infections |
bullous erythroderma ichthyosiforme |
ICD-10-CM |
Q80.3 |
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in the skin or throughout the body (sepsis). |
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bullous erythroderma ichthyosiformis congenita of Brocq |
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html:p |
As affected individuals get older, blistering is less frequent, erythroderma |
bullous ichthyosiform erythroderma |
MeSH |
D017488 |
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becomes less evident, and the skin becomes thick (hyperkeratotic), especially |
EHK |
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over joints, on areas of skin that come into contact with each other, or on the |
epidermolytic ichthyosis |
OMIM |
113800 |
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scalp or neck. This thickened skin is usually darker than normal. Bacteria can |
hyperkeratosis, epidermolytic |
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grow in the thick skin, often causing a distinct odor. |
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SNOMED CT |
254167000 |
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html:p |
Epidermolytic hyperkeratosis can be categorized into two types. People with |
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PS-type epidermolytic hyperkeratosis have thick skin on the palms of their hands |
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and soles of their feet (palmoplantar or palm/sole hyperkeratosis) in addition |
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to other areas of the body. People with the other type, NPS-type, do not have |
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extensive palmoplantar hyperkeratosis but do have hyperkeratosis on other areas |
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of the body. |
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html:p |
Epidermolytic hyperkeratosis is part of a group of conditions called ichthyoses, |
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which refers to the scaly skin seen in individuals with related disorders. |
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However, in epidermolytic hyperkeratosis, the skin is thick but not scaly as in |
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some of the other conditions in the group. |
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related-gene-list |
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Epilepsy-aphasia spectrum |
https://ghr.nlm.nih.gov/condition/epilepsy-aphasia-spectrum |
The prevalence of the epilepsy-aphasia spectrum is unknown. Most of the |
html:p |
The epilepsy-aphasia spectrum is a group of conditions that have overlapping |
ad |
autosomal dominant |
GRIN2A |
https://ghr.nlm.nih.gov/gene/GRIN2A |
acquired aphasia with epilepsy |
db |
key |
2016-11 |
2017-12-29 |
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癲癇失語症候群 |
conditions in the spectrum are rare; however, CECTS is one of the most common |
signs and symptoms. A key feature of these conditions is impairment of language |
FESD |
GTR |
CN181337 |
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forms of epilepsy in children, accounting for 8 to 25 percent of cases. It is |
skills (aphasia). The language problems can affect speaking, reading, and |
focal epilepsies with speech and language disorders |
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estimated to occur in 1 in 5,000 children younger than 16. |
writing. Another feature of epilepsy-aphasia spectrum disorders is certain |
focal epilepsy with speech disorder and with or without mental retardation |
MeSH |
D004827 |
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patterns of abnormal electrical activity in the brain, which are detected by a |
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test called an electroencephalogram (EEG). Many people with conditions in this |
MeSH |
D007805 |
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spectrum develop recurrent seizures (epilepsy), and some have mild to severe |
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intellectual disability. The conditions in the epilepsy-aphasia spectrum, which |
MeSH |
D013064 |
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all begin in childhood, include Landau-Kleffner syndrome (LKS), epileptic |
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encephalopathy with continuous spike-and-wave during sleep syndrome (ECSWS), |
MeSH |
D018887 |
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autosomal dominant rolandic epilepsy with speech dyspraxia (ADRESD), |
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intermediate epilepsy-aphasia disorder (IEAD), atypical childhood epilepsy with |
MeSH |
D019305 |
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centrotemporal spikes (ACECTS), and childhood epilepsy with centrotemporal |
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spikes (CECTS). |
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OMIM |
245570 |
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html:p |
LKS and ECSWS are at the severe end of the spectrum. Both usually feature a |
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characteristic abnormal pattern of electrical activity in the brain called |
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725 |
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continuous spike and waves during slow-wave sleep (CSWS). This pattern occurs |
db |
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while the affected child is sleeping, specifically during deep (slow-wave) |
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Orphanet |
1945 |
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sleep. |
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html:p |
Most children with LKS develop normally in early childhood, although some speak |
Orphanet |
98818 |
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later than their peers. However, affected children lose language skills |
db |
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beginning around age 5. This loss typically begins with verbal agnosia, which is |
SNOMED CT |
230384001 |
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the inability to understand speech. As LKS develops, the ability to express |
db |
key |
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speech is also impaired. Approximately 70 percent of children with LKS have |
SNOMED CT |
230438007 |
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seizures, typically of a type described as focal (or partial) because the |
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seizure activity occurs in specific regions of the brain rather than affecting |
SNOMED CT |
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the entire brain. |
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About half of children with ECSWS develop normally in early childhood, while |
SNOMED CT |
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others have delayed development of speech and motor skills. Although children |
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with ECSWS typically lose a range of previously acquired skills, including those |
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involved in language, movement, learning, or behavior, not everyone with ECSWS |
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has aphasia. Seizures occur in approximately 80 percent of children with ECSWS |
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and can include a variety of types, such as atypical absence seizures, which |
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involve short periods of staring blankly; hemiclonic seizures, which cause |
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rhythmic jerking of one side of the body; or generalized tonic-clonic seizures, |
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which cause stiffening and rhythmic jerking of the entire body. |
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html:p |
CECTS is at the mild end of the epilepsy-aphasia spectrum. Affected children |
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have rolandic seizures; these seizures are triggered by abnormal activity in an |
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area of the brain called the rolandic region, which is part of the cerebrum. The |
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seizures, which usually occur during sleep, cause twitching, numbness, or |
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tingling of the face or tongue, often causing drooling and impairing speech. In |
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most people with CECTS, the seizures disappear by the end of adolescence. Most |
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affected individuals develop normally, although some have difficulty |
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coordinating the movements of the mouth and tongue needed for clear speech |
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(dyspraxia) or impairment of language skills. |
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html:p |
The other conditions in the epilepsy-aphasia spectrum are less common and fall |
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in the middle of the spectrum. Children with IEAD usually have delayed |
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development or regression of language skills. Some have seizures and most have |
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abnormal electrical activity in their brains during sleep, although it is not |
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prominent enough to be classified as CSWS. ACECTS features seizures and |
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developmental regression that can affect movement, language, and attention. |
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Children with ACECTS have abnormal electrical activity in the brain that is |
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sometimes classified as CSWS. ADRESD is characterized by focal seizures, speech |
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difficulties due to dyspraxia, and learning disability. |
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related-gene-list |
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Episodic ataxia |
https://ghr.nlm.nih.gov/condition/episodic-ataxia |
Episodic ataxia is uncommon, affecting less than 1 in 100,000 people. Only |
html:p |
Episodic ataxia is a group of related conditions that affect the nervous system |
ad |
autosomal dominant |
CACNA1A |
https://ghr.nlm.nih.gov/gene/CACNA1A |
EA |
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key |
2008-08 |
2017-12-29 |
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陣發性不協調 |
types 1 and 2 have been identified in more than one family, and type 2 is by |
and cause problems with movement. People with episodic ataxia have recurrent |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1719788 |
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far the most common form of the condition. |
episodes of poor coordination and balance (ataxia). During these episodes, many |
CACNB4 |
https://ghr.nlm.nih.gov/gene/CACNB4 |
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people also experience dizziness (vertigo), nausea and vomiting, migraine |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1720416 |
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headaches, blurred or double vision, slurred speech, and ringing in the ears |
KCNA1 |
https://ghr.nlm.nih.gov/gene/KCNA1 |
db |
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(tinnitus). Seizures, muscle weakness, and paralysis affecting one side of the |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1847839 |
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body (hemiplegia) may also occur during attacks. Additionally, some affected |
SLC1A3 |
https://ghr.nlm.nih.gov/gene/SLC1A3 |
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individuals have a muscle abnormality called myokymia during or between |
GTR |
C1847843 |
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episodes. This abnormality can cause muscle cramping, stiffness, and |
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continuous, fine muscle twitching that appears as rippling under the skin. |
GTR |
C2677843 |
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html:p |
Episodes of ataxia and other symptoms can begin anytime from early childhood to |
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adulthood. They can be triggered by environmental factors such as emotional |
GeneReviews |
ea1 |
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stress, caffeine, alcohol, certain medications, physical activity, and illness. |
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The frequency of attacks ranges from several per day to one or two per year. |
GeneReviews |
ea2 |
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Between episodes, some affected individuals continue to experience ataxia, which |
db |
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may worsen over time, as well as involuntary eye movements called nystagmus. |
MeSH |
D001259 |
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html:p |
Researchers have identified at least seven types of episodic ataxia, designated |
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type 1 through type 7. The types are distinguished by their pattern of signs |
OMIM |
108500 |
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and symptoms, age of onset, length of attacks, and, when known, genetic cause. |
db |
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OMIM |
160120 |
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db |
key |
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OMIM |
600111 |
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db |
key |
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|
OMIM |
601949 |
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db |
key |
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OMIM |
606552 |
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db |
key |
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OMIM |
606554 |
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db |
key |
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OMIM |
611907 |
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db |
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Orphanet |
79135 |
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db |
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Orphanet |
79136 |
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db |
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SNOMED CT |
420932006 |
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db |
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SNOMED CT |
421182009 |
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db |
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related-gene-list |
|
SNOMED CT |
421455009 |
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Erdheim-Chester disease |
https://ghr.nlm.nih.gov/condition/erdheim-chester-disease |
Erdheim-Chester disease is a rare disorder; its exact prevalence is |
html:p |
Erdheim-Chester disease is a rare type of slow-growing blood cancer called a |
n |
not inherited |
BRAF |
https://ghr.nlm.nih.gov/gene/BRAF |
lipid granulomatosis |
db |
key |
2017-04 |
2017-12-29 |
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Erdheim-Chester 病 |
unknown. More than 500 affected individuals worldwide have been described in the |
histiocytic neoplasm, which results in overproduction of cells called |
polyostotic sclerosing histiocytosis |
MeSH |
D031249 |
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medical literature. For unknown reasons, men are slightly more likely to |
histiocytes. Histiocytes normally function to destroy foreign substances and |
db |
key |
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develop the disease, accounting for about 60 percent of cases. |
protect the body from infection. In Erdheim-Chester disease, the excess |
|
Orphanet |
35687 |
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production of histiocytes (histiocytosis) leads to inflammation that can damage |
db |
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organs and tissues throughout the body, causing them to become thickened, dense, |
SNOMED CT |
703711007 |
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and scarred (fibrotic); this tissue damage may lead to organ failure. |
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html:p |
People with Erdheim-Chester disease often have bone pain, especially in the |
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lower legs and upper arms, due to an abnormal increase in bone density |
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(osteosclerosis). Damage to the pituitary gland (a structure at the base of the |
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brain that produces several hormones, including a hormone that controls the |
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amount of water released in the urine) may result in hormonal problems such as a |
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condition called diabetes insipidus that leads to excessive urination. |
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Abnormally high pressure of the cerebrospinal fluid within the skull |
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(intracranial hypertension) caused by accumulation of histiocytes in the brain |
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may result in headaches, seizures, cognitive impairment, or problems with |
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movement or sensation. People with this condition can also have shortness of |
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breath, heart or kidney disease, protruding eyes (exophthalmos), skin growths, |
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or inability to conceive a child (infertility). Affected individuals may also |
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experience fever, night sweats, fatigue, weakness, and weight loss. |
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html:p |
The signs and symptoms of Erdheim-Chester disease usually appear between the |
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ages of 40 and 60, although the disorder can occur at any age. The severity of |
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the condition varies widely; some affected individuals have few or no associated |
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health problems, while others have severe complications that can be |
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life-threatening. |
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related-gene-list |
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Erythrokeratodermia variabilis et progressiva |
https://ghr.nlm.nih.gov/condition/erythrokeratodermia-variabilis-et-progressiva |
EKVP is a rare disorder; its prevalence is unknown. |
html:p |
Erythrokeratodermia variabilis et progressiva (EKVP) is a skin disorder that is |
ad |
autosomal dominant |
GJB3 |
https://ghr.nlm.nih.gov/gene/GJB3 |
EKV |
db |
key |
2014-01 |
2017-12-29 |
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进行性可变性红斑皮肤角化症 |
present at birth or becomes apparent in infancy. Although its signs and symptoms |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
EKV-P |
GTR |
C0265961 |
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vary, the condition is characterized by two major features. The first is areas |
ar |
autosomal recessive |
GJB4 |
https://ghr.nlm.nih.gov/gene/GJB4 |
EKVP |
db |
key |
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of hyperkeratosis, which is rough, thickened skin. These thickened patches are |
erythrokeratodermia variabilis |
MeSH |
D056266 |
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usually reddish-brown and can either be widespread over many parts of the body |
erythrokeratodermia variabilis of Mendes da Costa |
db |
key |
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or occur only in a small area. They tend to be fixed, meaning they do not spread |
erythrokeratodermia, progressive symmetric |
OMIM |
133200 |
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or go away. However, the patches can vary in size and shape, and in some |
progressive symmetrical erythrokeratoderma of Gottron |
db |
key |
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affected people they get larger over time. The areas of thickened skin are |
OMIM |
617524 |
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generally symmetric, which means they occur in the same places on the right and |
db |
key |
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left sides of the body. |
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OMIM |
617525 |
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html:p |
The second major feature of EKVP is patches of reddened skin called erythematous |
db |
key |
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areas. Unlike the hyperkeratosis that occurs in this disorder, the erythematous |
OMIM |
617526 |
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areas are usually transient, which means they come and go. They vary in size, |
db |
key |
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shape, and location, and can occur anywhere on the body. The redness can be |
OMIM |
617756 |
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triggered by sudden changes in temperature, emotional stress, or trauma or |
db |
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irritation to the area. It usually fades within hours to days. |
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Orphanet |
316 |
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db |
key |
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Orphanet |
317 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
70041004 |
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Erythromelalgia |
https://ghr.nlm.nih.gov/condition/erythromelalgia |
The prevalence of erythromelalgia is unknown. |
html:p |
Erythromelalgia is a condition characterized by episodes of pain, redness, and |
ad |
autosomal dominant |
SCN9A |
https://ghr.nlm.nih.gov/gene/SCN9A |
erythermalgia |
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key |
2016-02 |
2017-12-29 |
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红斑性肢痛病 |
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swelling in various parts of the body, particularly the hands and feet. These |
familial erythromelalgia |
GTR |
C0014805 |
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episodes are usually triggered by increased body temperature, which may be |
primary erythromelalgia |
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caused by exercise or entering a warm room. Ingesting alcohol or spicy foods may |
GeneReviews |
etha |
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also trigger an episode. Wearing warm socks, tight shoes, or gloves can cause a |
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pain episode so debilitating that it can impede everyday activities such as |
ICD-10-CM |
I73.81 |
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wearing shoes and walking. Pain episodes can prevent an affected person from |
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going to school or work regularly. |
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MeSH |
D004916 |
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html:p |
The signs and symptoms of erythromelalgia typically begin in childhood, although |
db |
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mildly affected individuals may have their first pain episode later in life. As |
OMIM |
133020 |
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individuals with erythromelalgia get older and the disease progresses, the |
db |
key |
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hands and feet may be constantly red, and the affected areas can extend from the |
Orphanet |
1956 |
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hands to the arms, shoulders, and face, and from the feet to the entire legs. |
db |
key |
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html:p |
Erythromelalgia is often considered a form of peripheral neuropathy because it |
SNOMED CT |
37151006 |
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affects the peripheral nervous system, which connects the brain and spinal cord |
db |
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to muscles and to cells that detect sensations such as touch, smell, and pain. |
SNOMED CT |
403390002 |
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synonym-list |
db-key-list |
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Esophageal atresia/tracheoesophageal fistula |
https://ghr.nlm.nih.gov/condition/esophageal-atresia-tracheoesophageal-fistula |
EA/TEF occurs in 1 in 3,000 to 5,000 newborns. |
html:p |
Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a condition resulting |
n |
not inherited |
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key |
2017-12-29 |
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食道闭锁/氣管食道廔管 |
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from abnormal development before birth of the tube that carries food from the |
db-key |
C1861028 |
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mouth to the stomach (the esophagus). During early development, the esophagus |
key |
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and windpipe (trachea) begin as a single tube that normally divides into the two |
db-key |
tef-ov |
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adjacent passages between four and eight weeks after conception. If this |
key |
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separation does not occur properly, EA/TEF is the result. |
db-key |
Q39.0 |
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html:p |
In esophageal atresia (EA), the upper esophagus does not connect (atresia) to |
key |
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the lower esophagus and stomach. Almost 90 percent of babies born with |
db-key |
Q39.1 |
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esophageal atresia also have a tracheoesophageal fistula (TEF), in which the |
key |
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esophagus and the trachea are abnormally connected, allowing fluids from the |
db-key |
D004933 |
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esophagus to get into the airways and interfere with breathing. A small number |
key |
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of infants have only one of these abnormalities. |
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db-key |
189960 |
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html:p |
There are several types of EA/TEF, classified by the location of the |
key |
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malformation and the structures that are affected. In more than 80 percent of |
db-key |
1199 |
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cases, the lower section of the malformed esophagus is connected to the trachea |
key |
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(EA with a distal TEF). Other possible configurations include having the upper |
26179002 |
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section of the malformed esophagus connected to the trachea (EA with a proximal |
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TEF), connections to the trachea from both the upper and lower sections of the |
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malformed esophagus (EA with proximal and distal TEF), an esophagus that is |
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malformed but does not connect to the trachea (isolated EA), and a connection to |
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the trachea from an otherwise normal esophagus (H-type TEF with no EA). |
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html:p |
While EA/TEF arises during fetal development, it generally becomes apparent |
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shortly after birth. Saliva, liquids fed to the infant, or digestive fluids may |
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enter the windpipe through the tracheoesophageal fistula, leading to coughing, |
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respiratory distress, and a bluish appearance of the skin or lips (cyanosis). |
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Esophageal atresia blocks liquids fed to the infant from entering the stomach, |
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so they are spit back up, sometimes along with fluids from the respiratory |
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tract. EA/TEF is a life-threatening condition; affected babies generally require |
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surgery to correct the malformation in order to allow feeding and prevent lung |
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damage from repeated exposure to esophageal fluids. |
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html:p |
EA/TEF occurs alone (isolated EA/TEF) in about 40 percent of affected |
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individuals. In other cases it occurs with other birth defects or as part of a |
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genetic syndrome (non-isolated or syndromic EA/TEF). |
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related-gene-list |
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Essential pentosuria |
https://ghr.nlm.nih.gov/condition/essential-pentosuria |
Essential pentosuria occurs almost exclusively in individuals with |
html:p |
Essential pentosuria is a condition characterized by high levels of a sugar |
ar |
autosomal recessive |
DCXR |
https://ghr.nlm.nih.gov/gene/DCXR |
essential benign pentosuria |
db |
key |
2015-01 |
2017-12-29 |
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必需的戊糖尿症 |
Ashkenazi Jewish ancestry. Approximately 1 in 3,300 people in this population |
called L-xylulose in urine. The condition is so named because L-xylulose is a |
L-xylulose reductase deficiency |
GTR |
C0268162 |
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are affected. |
type of sugar called a pentose. Despite the excess sugar, affected individuals |
L-xylulosuria |
db |
key |
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have no associated health problems. |
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pentosuria |
MeSH |
D002239 |
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xylitol dehydrogenase deficiency |
db |
key |
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|
OMIM |
260800 |
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db |
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Orphanet |
2843 |
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related-gene-list |
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SNOMED CT |
190764000 |
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Essential thrombocythemia |
https://ghr.nlm.nih.gov/condition/essential-thrombocythemia |
Essential thrombocythemia affects an estimated 1 to 24 per 1 million people |
html:p |
Essential thrombocythemia is a condition characterized by an increased number of |
ad |
autosomal dominant |
CALR |
https://ghr.nlm.nih.gov/gene/CALR |
essential thrombocytosis |
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2014-09 |
2017-12-29 |
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原發性血小板過多症 |
worldwide. |
platelets (thrombocythemia). Platelets (thrombocytes) are blood cell fragments |
related-gene |
gene-symbol |
ghr-page |
primary thrombocythemia |
GTR |
C0040028 |
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(Blood) |
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involved in blood clotting. While some people with this condition have no |
JAK2 |
https://ghr.nlm.nih.gov/gene/JAK2 |
primary thrombocytosis |
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symptoms, others develop problems associated with the excess platelets. |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
D47.3 |
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html:p |
Abnormal blood clotting (thrombosis) is common in people with essential |
MPL |
https://ghr.nlm.nih.gov/gene/MPL |
db |
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thrombocythemia and causes many signs and symptoms of this condition. Clots that |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D013920 |
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block blood flow to the brain can cause strokes or temporary stroke-like |
TET2 |
https://ghr.nlm.nih.gov/gene/TET2 |
db |
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episodes known as transient ischemic attacks. Thrombosis in the legs can cause |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
187950 |
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leg pain, swelling, or both. In addition, clots can travel to the lungs |
THPO |
https://ghr.nlm.nih.gov/gene/THPO |
db |
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(pulmonary embolism), blocking blood flow in the lungs and causing chest pain |
SNOMED CT |
109994006 |
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and difficulty breathing (dyspnea). |
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html:p |
Another problem in essential thrombocythemia is abnormal bleeding, which occurs |
SNOMED CT |
128844009 |
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more often in people with a very high number of platelets. Affected people may |
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have nosebleeds, bleeding gums, or bleeding in the gastrointestinal tract. It is |
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thought that bleeding occurs because a specific protein in the blood that helps |
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with clotting is reduced, although why the protein is reduced is unclear. |
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html:p |
Other signs and symptoms of essential thrombocythemia include an enlarged spleen |
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(splenomegaly); weakness; headaches; or a sensation in the skin of burning, |
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tingling, or prickling. Some people with essential thrombocythemia have episodes |
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of severe pain, redness, and swelling (erythromelalgia), which commonly occur |
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in the hands and feet. |
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synonym-list |
db-key-list |
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Essential tremor |
https://ghr.nlm.nih.gov/condition/essential-tremor |
Essential tremor is a common disorder, affecting up to 10 million people in |
html:p |
Essential tremor is a movement disorder that causes involuntary, rhythmic |
ad |
autosomal dominant |
synonym |
familial tremor |
key |
2017-12-29 |
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原發性顫抖症 |
the United States. Estimates of its prevalence vary widely because several |
shaking (tremor), especially in the hands. It is distinguished from tremor that |
code |
memo |
synonym |
hereditary essential tremor |
db-key |
C1860861 |
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other disorders, as well as other factors such as certain medications, can |
results from other disorders or known causes, such as Parkinson disease or head |
u |
pattern unknown |
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result in similar tremors. In addition, mild cases are often not brought to |
trauma. Essential tremor usually occurs alone, without other neurological signs |
db-key |
G25.0 |
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medical attention, or may not be detected in clinical exams that do not include |
or symptoms. However, some experts think that essential tremor can include |
key |
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the particular circumstances in which an individual's tremor occurs. Severe |
additional features, such as mild balance problems. |
db-key |
D020329 |
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cases are often misdiagnosed as Parkinson disease. |
html:p |
Essential tremor usually occurs with movements and can occur during many |
key |
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different types of activities, such as eating, drinking, or writing. Essential |
db-key |
190300 |
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tremor can also occur when the muscles are opposing gravity, such as when the |
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hands are extended. It is usually not evident at rest. |
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html:p |
In addition to the hands and arms, muscles of the trunk, face, head, and neck |
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may also exhibit tremor in this disorder; the legs and feet are less often |
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involved. Head tremor may appear as a "yes-yes" or "no-no" movement while the |
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affected individual is seated or standing. In some people with essential tremor, |
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the tremor may affect the voice (vocal tremor). |
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html:p |
Essential tremor does not shorten the lifespan. However, it may interfere with |
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fine motor skills such as using eating utensils, writing, shaving, or applying |
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makeup, and in some cases these and other activities of daily living can be |
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greatly impaired. Symptoms of essential tremor may be aggravated by emotional |
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stress, anxiety, fatigue, hunger, caffeine, cigarette smoking, or temperature |
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extremes. |
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html:p |
Essential tremor may appear at any age but is most common in the elderly. Some |
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studies have suggested that people with essential tremor have a higher than |
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average risk of developing neurological conditions including Parkinson disease |
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or sensory problems such as hearing loss, especially in individuals whose tremor |
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appears after age 65. |
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related-gene-list |
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Ethylmalonic encephalopathy |
https://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy |
About 70 individuals with this condition have been identified worldwide, |
html:p |
Ethylmalonic encephalopathy is an inherited disorder that affects several body |
ar |
autosomal recessive |
ETHE1 |
https://ghr.nlm.nih.gov/gene/ETHE1 |
encephalopathy, petechiae, and ethylmalonic aciduria |
db |
key |
2017-08 |
2017-12-29 |
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mostly in Mediterranean and Arab populations. Although ethylmalonic |
systems, particularly the nervous system. Neurological signs and symptoms |
EPEMA syndrome |
GTR |
C1865349 |
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encephalopathy appears to be very rare, researchers suggest that some cases have |
include delayed development and the loss of previously acquired skills |
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been misdiagnosed as other neurological disorders. |
(developmental regression), weak muscle tone (hypotonia), seizures, and abnormal |
GeneReviews |
ee |
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movements. The body's network of blood vessels (the vascular system) is also |
db |
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affected. Children with this disorder often develop rashes of tiny red spots |
MeSH |
D001928 |
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(petechiae) caused by bleeding under the skin and blue discoloration in the |
db |
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hands and feet due to reduced oxygen in the blood (acrocyanosis). Chronic |
OMIM |
602473 |
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diarrhea is another common feature of ethylmalonic encephalopathy. |
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html:p |
The signs and symptoms of ethylmalonic encephalopathy are apparent at birth or |
Orphanet |
51188 |
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begin in the first few months of life. Problems with the nervous system |
db |
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typically worsen over time, and most affected individuals survive only into |
SNOMED CT |
811000124106 |
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early childhood. |
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related-gene-list |
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Ewing sarcoma |
https://ghr.nlm.nih.gov/condition/ewing-sarcoma |
Approximately 3 per 1 million children each year are diagnosed with a Ewing |
html:p |
Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as |
n |
not inherited |
ERG |
https://ghr.nlm.nih.gov/gene/ERG |
Ewing family of tumors |
db |
key |
2016-06 |
2017-12-29 |
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尤文氏肉瘤 |
sarcoma. It is estimated that, in the United States, 250 children are diagnosed |
cartilage or nerves. There are several types of Ewing sarcoma, including Ewing |
related-gene |
gene-symbol |
ghr-page |
Ewing tumor |
GTR |
C0553580 |
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(bone tumor) |
with one of these types of tumor each year. Ewing sarcoma accounts for about |
sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive |
ETV1 |
https://ghr.nlm.nih.gov/gene/ETV1 |
Ewing's sarcoma |
db |
key |
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1.5 percent of all childhood cancers, and it is the second most common type of |
neuroectodermal tumor (pPNET), and Askin tumor. These tumors are considered to |
related-gene |
gene-symbol |
ghr-page |
Ewing's tumor |
MeSH |
D012512 |
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bone tumor in children (the most common type of bone cancer is called |
be related because they have similar genetic causes. These types of Ewing |
ETV4 |
https://ghr.nlm.nih.gov/gene/ETV4 |
tumor of the Ewing family |
db |
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osteosarcoma). |
sarcoma can be distinguished from one another by the tissue in which the tumor |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
612219 |
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develops. Approximately 87 percent of Ewing sarcomas are Ewing sarcoma of bone, |
EWSR1 |
https://ghr.nlm.nih.gov/gene/EWSR1 |
db |
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which is a bone tumor that usually occurs in the thigh bones (femurs), pelvis, |
related-gene |
gene-symbol |
ghr-page |
|
Orphanet |
319 |
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ribs, or shoulder blades. Extraosseous (or extraskeletal) Ewing sarcoma |
FEV |
https://ghr.nlm.nih.gov/gene/FEV |
db |
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describes tumors in the soft tissues around bones, such as cartilage. pPNETs |
related-gene |
gene-symbol |
ghr-page |
|
SNOMED CT |
128783001 |
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occur in nerve tissue and can be found in many parts of the body. A type of |
FLI1 |
https://ghr.nlm.nih.gov/gene/FLI1 |
db |
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pPNET found in the chest is called Askin tumor. |
related-gene |
gene-symbol |
ghr-page |
|
SNOMED CT |
307608006 |
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html:p |
Ewing sarcomas most often occur in children and young adults. Affected |
FUS |
https://ghr.nlm.nih.gov/gene/FUS |
db |
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individuals usually feel stiffness, pain, swelling, or tenderness of the bone or |
related-chromosome |
name |
ghr-page |
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SNOMED CT |
447951009 |
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surrounding tissue. Sometimes, there is a lump near the surface of the skin |
11 |
https://ghr.nlm.nih.gov/chromosome/11 |
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that feels warm and soft to the touch. Often, children have a fever that does |
related-chromosome |
name |
ghr-page |
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SNOMED CT |
76909002 |
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not go away. Ewing sarcoma of bone can cause weakening of the involved bone, and |
22 |
https://ghr.nlm.nih.gov/chromosome/22 |
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affected individuals may have a broken bone with no obvious cause. |
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html:p |
It is common for Ewing sarcoma to spread to other parts of the body |
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(metastasize), usually to the lungs, to other bones, or to the bone marrow. |
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related-gene-list |
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Fabry disease |
https://ghr.nlm.nih.gov/condition/fabry-disease |
Fabry disease affects an estimated 1 in 40,000 to 60,000 males. This |
html:p |
Fabry disease is an inherited disorder that results from the buildup of a |
xr |
X-linked recessive |
GLA |
https://ghr.nlm.nih.gov/gene/GLA |
alpha-galactosidase A deficiency |
db |
key |
2012-02 |
2017-12-29 |
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|
Fabry氏症 |
disorder also occurs in females, although the prevalence is unknown. Milder, |
particular type of fat, called globotriaosylceramide, in the body's cells. |
Anderson-Fabry disease |
GTR |
C0002986 |
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法布瑞氏症 |
late-onset forms of the disorder are probably more common than the classic, |
Beginning in childhood, this buildup causes signs and symptoms that affect many |
angiokeratoma corporis diffusum |
db |
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severe form. |
parts of the body. Characteristic features of Fabry disease include episodes of |
angiokeratoma diffuse |
GeneReviews |
fabry |
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pain, particularly in the hands and feet (acroparesthesias); clusters of small, |
ceramide trihexosidase deficiency |
db |
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dark red spots on the skin called angiokeratomas; a decreased ability to sweat |
Fabry's disease |
ICD-10-CM |
E75.21 |
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(hypohidrosis); cloudiness of the front part of the eye (corneal opacity); |
GLA deficiency |
db |
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problems with the gastrointestinal system; ringing in the ears (tinnitus); and |
hereditary dystopic lipidosis |
MeSH |
D000795 |
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hearing loss. Fabry disease also involves potentially life-threatening |
db |
key |
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complications such as progressive kidney damage, heart attack, and stroke. Some |
Orphanet |
324 |
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affected individuals have milder forms of the disorder that appear later in life |
db |
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and affect only the heart or kidneys. |
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SNOMED CT |
124464003 |
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db |
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related-gene-list |
|
SNOMED CT |
16652001 |
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Facioscapulohumeral muscular dystrophy |
https://ghr.nlm.nih.gov/condition/facioscapulohumeral-muscular-dystrophy |
Facioscapulohumeral muscular dystrophy has an estimated prevalence of 1 in |
html:p |
Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle |
ad |
autosomal dominant |
DUX4 |
https://ghr.nlm.nih.gov/gene/DUX4 |
facio-scapulo-humeral dystrophy |
db |
key |
2014-08 |
2017-12-29 |
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面肩胛肱肌失養症 |
20,000 people. About 95 percent of all cases are FSHD1; the remaining 5 percent |
weakness and wasting (atrophy). This condition gets its name from the muscles |
related-gene |
gene-symbol |
ghr-page |
facioscapulohumeral atrophy |
GTR |
C0238288 |
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are FSHD2. |
that are affected most often: those of the face (facio-), around the shoulder |
SMCHD1 |
https://ghr.nlm.nih.gov/gene/SMCHD1 |
facioscapulohumeral type progressive muscular dystrophy |
db |
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blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of |
related-chromosome |
name |
ghr-page |
facioscapuloperoneal muscular dystrophy |
GTR |
C1834671 |
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facioscapulohumeral muscular dystrophy usually appear in adolescence. However, |
4 |
https://ghr.nlm.nih.gov/chromosome/4 |
FSH muscular dystrophy |
db |
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the onset and severity of the condition varies widely. Milder cases may not |
FSHD |
GeneReviews |
fsh |
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become noticeable until later in life, whereas rare severe cases become apparent |
muscular dystrophy, facioscapulohumeral |
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in infancy or early childhood. |
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MeSH |
D020391 |
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html:p |
Weakness involving the facial muscles or shoulders is usually the first symptom |
db |
key |
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of this condition. Facial muscle weakness often makes it difficult to drink from |
OMIM |
158900 |
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a straw, whistle, or turn up the corners of the mouth when smiling. Weakness in |
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muscles around the eyes can prevent the eyes from closing fully while a person |
OMIM |
158901 |
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is asleep, which can lead to dry eyes and other eye problems. For reasons that |
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are unclear, weakness may be more severe in one side of the face than the other. |
Orphanet |
269 |
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Weak shoulder muscles tend to make the shoulder blades (scapulae) protrude |
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from the back, a common sign known as scapular winging. Weakness in muscles of |
SNOMED CT |
399091004 |
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the shoulders and upper arms can make it difficult to raise the arms over the |
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head or throw a ball. |
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html:p |
The muscle weakness associated with facioscapulohumeral muscular dystrophy |
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worsens slowly over decades and may spread to other parts of the body. Weakness |
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in muscles of the lower legs can lead to a condition called foot drop, which |
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affects walking and increases the risk of falls. Muscular weakness in the hips |
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and pelvis can make it difficult to climb stairs or walk long distances. |
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Additionally, affected individuals may have an exaggerated curvature of the |
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lower back (lordosis) due to weak abdominal muscles. About 20 percent of |
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affected individuals eventually require the use of a wheelchair. |
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html:p |
Additional signs and symptoms of facioscapulohumeral muscular dystrophy can |
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include mild high-tone hearing loss and abnormalities involving the |
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light-sensitive tissue at the back of the eye (the retina). These signs are |
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often not noticeable and may be discovered only during medical testing. Rarely, |
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facioscapulohumeral muscular dystrophy affects the heart (cardiac) muscle or |
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muscles needed for breathing. |
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html:p |
Researchers have described two types of facioscapulohumeral muscular dystrophy: |
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type 1 (FSHD1) and type 2 (FSHD2). The two types have the same signs and |
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symptoms and are distinguished by their genetic cause. |
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related-gene-list |
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Factor V deficiency |
https://ghr.nlm.nih.gov/condition/factor-v-deficiency |
Factor V deficiency affects an estimated 1 in 1 million people. This |
html:p |
Factor V deficiency is a rare bleeding disorder. The signs and symptoms of this |
ar |
autosomal recessive |
F5 |
https://ghr.nlm.nih.gov/gene/F5 |
labile factor deficiency |
db |
key |
2013-05 |
2017-12-29 |
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第五凝血因子缺乏症 |
condition is more common in countries such as Iran and southern India, where it |
condition can begin at any age, although the most severe cases are apparent in |
Owren disease |
GTR |
C0015499 |
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occurs up to ten times more frequently than in western countries. |
childhood. Factor V deficiency commonly causes nosebleeds; easy bruising; |
Owren's disease |
db |
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bleeding under the skin; bleeding of the gums; and prolonged or excessive |
parahemophilia |
MeSH |
D005166 |
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bleeding following surgery, trauma, or childbirth. Women with factor V |
proaccelerin deficiency |
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deficiency can have heavy or prolonged menstrual bleeding (menorrhagia). |
OMIM |
227400 |
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Bleeding into joint spaces (hemarthrosis) can also occur, although it is rare. |
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key |
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Severely affected individuals have an increased risk of bleeding inside the |
Orphanet |
326 |
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skull (intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the |
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gastrointestinal tract, which can be life-threatening. |
|
SNOMED CT |
4320005 |
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related-gene-list |
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Factor V Leiden thrombophilia |
https://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia |
Factor V Leiden is the most common inherited form of thrombophilia. Between |
html:p |
Factor V Leiden thrombophilia is an inherited disorder of blood clotting. Factor |
u |
pattern unknown |
F5 |
https://ghr.nlm.nih.gov/gene/F5 |
APC resistance, Leiden type |
db |
key |
2010-08 |
2017-12-29 |
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(Blood) |
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3 and 8 percent of people with European ancestry carry one copy of the factor V |
V Leiden is the name of a specific gene mutation that results in thrombophilia, |
Hereditary resistance to activated protein C |
GTR |
C1861171 |
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Leiden mutation in each cell, and about 1 in 5,000 people have two copies of |
which is an increased tendency to form abnormal blood clots that can block |
db |
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the mutation. The mutation is less common in other populations. |
blood vessels. |
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GTR |
C2674152 |
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html:p |
People with factor V Leiden thrombophilia have a higher than average risk of |
db |
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developing a type of blood clot called a deep venous thrombosis (DVT). DVTs |
GeneReviews |
factor-v-leiden |
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occur most often in the legs, although they can also occur in other parts of the |
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body, including the brain, eyes, liver, and kidneys. Factor V Leiden |
|
ICD-10-CM |
D68.51 |
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thrombophilia also increases the risk that clots will break away from their |
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original site and travel through the bloodstream. These clots can lodge in the |
MeSH |
D020016 |
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lungs, where they are known as pulmonary emboli. Although factor V Leiden |
db |
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thrombophilia increases the risk of blood clots, only about 10 percent of |
|
OMIM |
188055 |
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individuals with the factor V Leiden mutation ever develop abnormal clots. |
db |
key |
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html:p |
The factor V Leiden mutation is associated with a slightly increased risk of |
SNOMED CT |
421527008 |
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pregnancy loss (miscarriage). Women with this mutation are two to three times |
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more likely to have multiple (recurrent) miscarriages or a pregnancy loss during |
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the second or third trimester. Some research suggests that the factor V Leiden |
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mutation may also increase the risk of other complications during pregnancy, |
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including pregnancy-induced high blood pressure (preeclampsia), slow fetal |
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growth, and early separation of the placenta from the uterine wall (placental |
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abruption). However, the association between the factor V Leiden mutation and |
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these complications has not been confirmed. Most women with factor V Leiden |
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thrombophilia have normal pregnancies. |
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related-gene-list |
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Factor VII deficiency |
https://ghr.nlm.nih.gov/condition/factor-vii-deficiency |
Factor VII deficiency is estimated to affect 1 in 300,000 to 1 in 500,000 |
html:p |
Factor VII deficiency is a rare bleeding disorder that varies in severity among |
ar |
autosomal recessive |
F7 |
https://ghr.nlm.nih.gov/gene/F7 |
F7 deficiency |
db |
key |
2016-10 |
2017-12-29 |
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第七凝血因子缺乏症 |
people. It is the most frequently occurring of a group of disorders classified |
affected individuals. The signs and symptoms of this condition can begin at any |
code |
memo |
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hypoproconvertinemia |
GTR |
C0015503 |
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(Blood) |
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as rare bleeding disorders. |
age, although the most severe cases are apparent in infancy. However, up to |
n |
not inherited |
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proconvertin deficiency |
db |
key |
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one-third of people with factor VII deficiency never have any bleeding problems. |
prothrombin conversion accelerator deficiency |
MeSH |
D005168 |
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Factor VII deficiency commonly causes nosebleeds (epistaxis), bleeding of the |
serum prothrombin conversion accelerator deficiency |
db |
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gums, easy bruising, and prolonged or excessive bleeding following surgery or |
OMIM |
227500 |
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physical injury. Bleeding into joint spaces (hemarthrosis) and blood in the |
db |
key |
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urine (hematuria) occasionally occur. Many women with factor VII deficiency have |
Orphanet |
327 |
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heavy or prolonged menstrual bleeding (menorrhagia). Severely affected |
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db |
key |
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individuals have an increased risk of bleeding inside the skull (intracranial |
SNOMED CT |
37193007 |
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hemorrhage) or in the gastrointestinal tract, which can be life-threatening. |
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Although factor VII deficiency is primarily associated with increased bleeding, |
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some people with the condition have excessive blood clotting (thrombosis). |
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related-gene-list |
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Factor X deficiency |
https://ghr.nlm.nih.gov/condition/factor-x-deficiency |
Factor X deficiency occurs in approximately 1 per million individuals |
html:p |
Factor X deficiency is a rare bleeding disorder that varies in severity among |
ar |
autosomal recessive |
F10 |
https://ghr.nlm.nih.gov/gene/F10 |
congenital Stuart factor deficiency |
db |
key |
2015-01 |
2017-12-29 |
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(Blood) |
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worldwide. |
affected individuals. The signs and symptoms of this condition can begin at any |
code |
memo |
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F10 deficiency |
GTR |
C0015519 |
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age, although the most severe cases are apparent in childhood. Factor X |
n |
not inherited |
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Stuart-Prower factor deficiency |
db |
key |
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deficiency commonly causes nosebleeds, easy bruising, bleeding under the skin, |
ICD-10-CM |
D68.2 |
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bleeding of the gums, blood in the urine (hematuria), and prolonged or excessive |
db |
key |
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bleeding following surgery or trauma. Women with factor X deficiency can have |
MeSH |
D005171 |
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heavy or prolonged menstrual bleeding (menorrhagia) or excessive bleeding in |
db |
key |
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childbirth, and may be at increased risk of pregnancy loss (miscarriage). |
OMIM |
227600 |
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Bleeding into joint spaces (hemarthrosis) occasionally occurs. Severely affected |
db |
key |
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individuals have an increased risk of bleeding inside the skull (intracranial |
Orphanet |
328 |
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hemorrhage), in the lungs (pulmonary hemorrhage), or in the gastrointestinal |
db |
key |
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tract, which can be life-threatening. |
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SNOMED CT |
76642003 |
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related-gene-list |
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Factor XI deficiency |
https://ghr.nlm.nih.gov/condition/factor-xi-deficiency |
Factor XI deficiency is estimated to affect approximately 1 in 1 million |
html:p |
Factor XI deficiency is a disorder that can cause abnormal bleeding due to a |
ad |
autosomal dominant |
F11 |
https://ghr.nlm.nih.gov/gene/F11 |
F11 deficiency |
db |
key |
2017-05 |
2017-12-29 |
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(Blood) |
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people worldwide. The severe deficiency disorder is much more common in people |
shortage (deficiency) of the factor XI protein, which is involved in blood |
code |
memo |
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factor 11 deficiency |
GTR |
C0015523 |
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with central and eastern European (Ashkenazi) Jewish ancestry, occurring in |
clotting. This condition is classified as either partial or severe based on the |
ar |
autosomal recessive |
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haemophilia C |
db |
key |
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about 1 in 450 individuals in that population. Researchers suggest that the |
degree of deficiency of the factor XI protein. However, regardless of the |
hemophilia C |
ICD-10-CM |
D68.1 |
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actual prevalence of factor XI deficiency may be higher than reported, because |
severity of the protein deficiency, most affected individuals have relatively |
plasma thromboplastin antecedent deficiency |
db |
key |
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mild cases of the disorder often do not come to medical attention. |
mild bleeding problems, and some people with this disorder have few if any |
PTA deficiency |
MeSH |
D005173 |
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symptoms. The most common feature of factor XI deficiency is prolonged bleeding |
Rosenthal factor deficiency |
db |
key |
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after trauma or surgery, especially involving the inside of the mouth and nose |
Rosenthal syndrome |
OMIM |
612416 |
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(oral and nasal cavities) or the urinary tract. If the bleeding is left |
Rosenthal's disease |
db |
key |
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untreated after surgery, solid swellings consisting of congealed blood |
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Orphanet |
329 |
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(hematomas) can develop in the surgical area. |
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db |
key |
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html:p |
Other signs and symptoms of this disorder can include frequent nosebleeds, easy |
SNOMED CT |
49762007 |
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bruising, bleeding under the skin, and bleeding of the gums. Women with this |
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disorder can have heavy or prolonged menstrual bleeding (menorrhagia) or |
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prolonged bleeding after childbirth. In contrast to some other bleeding |
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disorders, spontaneous bleeding into the urine (hematuria), gastrointestinal |
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tract, or skull cavity are not common in factor XI deficiency, although they can |
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occur in severely affected individuals. Bleeding into the muscles or joints, |
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which can cause long-term disability in other bleeding disorders, generally does |
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not occur in this condition. |
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related-gene-list |
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Factor XIII deficiency |
https://ghr.nlm.nih.gov/condition/factor-xiii-deficiency |
Inherited factor XIII deficiency affects 1 to 3 per million people |
html:p |
Factor XIII deficiency is a rare bleeding disorder. Researchers have identified |
ar |
autosomal recessive |
F13A1 |
https://ghr.nlm.nih.gov/gene/F13A1 |
deficiency of factor XIII |
db |
key |
2015-09 |
2017-12-29 |
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(Blood) |
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worldwide. Researchers suspect that mild factor XIII deficiency, including the |
an inherited form and a less severe form that is acquired during a person's |
related-gene |
gene-symbol |
ghr-page |
deficiency, Laki-Lorand factor |
GTR |
C2750481 |
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acquired form of the disorder, is underdiagnosed because many affected people |
lifetime. |
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F13B |
https://ghr.nlm.nih.gov/gene/F13B |
fibrin stabilizing factor deficiency |
db |
key |
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never have a major episode of abnormal bleeding that would lead to a diagnosis. |
html:p |
Signs and symptoms of inherited factor XIII deficiency begin soon after birth, |
GTR |
C2750514 |
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usually with abnormal bleeding from the umbilical cord stump. If the condition |
db |
key |
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is not treated, affected individuals may have episodes of excessive and |
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MeSH |
D005177 |
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prolonged bleeding that can be life-threatening. Abnormal bleeding can occur |
db |
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after surgery or minor trauma. The condition can also cause spontaneous bleeding |
OMIM |
613225 |
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into the joints or muscles, leading to pain and disability. Women with |
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inherited factor XIII deficiency tend to have heavy or prolonged menstrual |
OMIM |
613235 |
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bleeding (menorrhagia) and may experience recurrent pregnancy losses |
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(miscarriages). Other signs and symptoms of inherited factor XIII deficiency |
Orphanet |
331 |
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include nosebleeds, bleeding of the gums, easy bruising, problems with wound |
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healing, and abnormal scar formation. Inherited factor XIII deficiency also |
SNOMED CT |
18604004 |
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increases the risk of spontaneous bleeding inside the skull (intracranial |
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hemorrhage), which is the leading cause of death in people with this condition. |
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html:p |
Acquired factor XIII deficiency becomes apparent later in life. People with the |
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acquired form are less likely to have severe or life-threatening episodes of |
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abnormal bleeding than those with the inherited form. |
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inheritance-pattern-list |
related-gene-list |
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Familial acute myeloid leukemia with mutated CEBPA |
https://ghr.nlm.nih.gov/condition/familial-acute-myeloid-leukemia-with-mutated-c |
Acute myeloid leukemia occurs in approximately 3.5 in 100,000 individuals |
html:p |
html:i |
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ad |
autosomal dominant |
ghr-page |
CEBPA-dependent familial acute myeloid leukemia |
db-key |
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2015-07 |
2017-12-29 |
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(Blood) |
ebpa |
per year. Familial acute myeloid leukemia with mutated CEBPA is a very rare form |
CEBPA |
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https://ghr.nlm.nih.gov/gene/CEBPA |
familial acute myeloid leukaemia |
GTR |
C0023467 |
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of acute myeloid leukemia; only a few affected families have been identified. |
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GeneReviews |
cebpa-aml |
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db-key |
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MeSH |
D015470 |
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db-key |
db |
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OMIM |
601626 |
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db-key |
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Orphanet |
519 |
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db-key |
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html:p |
html:i |
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SNOMED CT |
397340004 |
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CEBPA |
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may include fever and weight loss. |
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html:p |
While acute myeloid leukemia is generally a disease of older adults, familial |
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html:i |
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CEBPA |
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have a higher risk of having a new primary occurrence of this disorder after |
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successful treatment of the initial occurrence. |
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related-gene-list |
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Familial adenomatous polyposis, FAP |
https://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis |
The reported incidence of familial adenomatous polyposis varies from 1 in |
html:p |
Familial adenomatous polyposis (FAP) is an inherited disorder characterized by |
ad |
autosomal dominant |
APC |
https://ghr.nlm.nih.gov/gene/APC |
adenomatous familial polyposis |
db |
key |
2013-10 |
2017-12-29 |
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家族性大腸瘜肉症 |
7,000 to 1 in 22,000 individuals. |
cancer of the large intestine (colon) and rectum. People with the classic type |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
adenomatous familial polyposis syndrome |
GTR |
C0032580 |
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家族遺傳性大腸多發性息肉 |
of familial adenomatous polyposis may begin to develop multiple noncancerous |
ar |
autosomal recessive |
MUTYH |
https://ghr.nlm.nih.gov/gene/MUTYH |
adenomatous polyposis coli |
db |
key |
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(Cancer) |
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(benign) growths (polyps) in the colon as early as their teenage years. Unless |
familial multiple polyposis syndrome |
GTR |
C1837991 |
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the colon is removed, these polyps will become malignant (cancerous). The |
FAP |
db |
key |
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average age at which an individual develops colon cancer in classic familial |
MYH-associated polyposis |
GTR |
C1851124 |
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adenomatous polyposis is 39 years. Some people have a variant of the disorder, |
db |
key |
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called attenuated familial adenomatous polyposis, in which polyp growth is |
GTR |
C2713442 |
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delayed. The average age of colorectal cancer onset for attenuated familial |
db |
key |
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adenomatous polyposis is 55 years. |
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GeneReviews |
fap |
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html:p |
In people with classic familial adenomatous polyposis, the number of polyps |
db |
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increases with age, and hundreds to thousands of polyps can develop in the |
GeneReviews |
maps |
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colon. Also of particular significance are noncancerous growths called desmoid |
db |
key |
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tumors. These fibrous tumors usually occur in the tissue covering the intestines |
MeSH |
D011125 |
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and may be provoked by surgery to remove the colon. Desmoid tumors tend to |
db |
key |
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recur after they are surgically removed. In both classic familial adenomatous |
OMIM |
135290 |
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polyposis and its attenuated variant, benign and malignant tumors are sometimes |
db |
key |
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found in other places in the body, including the duodenum (a section of the |
OMIM |
175100 |
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small intestine), stomach, bones, skin, and other tissues. People who have colon |
db |
key |
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polyps as well as growths outside the colon are sometimes described as having |
OMIM |
608456 |
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Gardner syndrome. |
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html:p |
A milder type of familial adenomatous polyposis, called autosomal recessive |
Orphanet |
733 |
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familial adenomatous polyposis, has also been identified. People with the |
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autosomal recessive type of this disorder have fewer polyps than those with the |
SNOMED CT |
423471004 |
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classic type. Fewer than 100 polyps typically develop, rather than hundreds or |
db |
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thousands. The autosomal recessive type of this disorder is caused by mutations |
SNOMED CT |
72900001 |
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in a different gene than the classic and attenuated types of familial |
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adenomatous polyposis. |
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Familial Amyloidotic Polyneuropathy |
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家族性澱粉樣多發性神經病變 |
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related-gene-list |
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Familial atrial fibrillation |
https://ghr.nlm.nih.gov/condition/familial-atrial-fibrillation |
Atrial fibrillation is the most common type of recurrent arrhythmia, |
html:p |
Familial atrial fibrillation is an inherited abnormality of the heart's normal |
ad |
autosomal dominant |
ABCC9 |
https://ghr.nlm.nih.gov/gene/ABCC9 |
atrial fibrillation, familial |
db |
key |
2017-10 |
2017-12-29 |
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affecting more than 3 million people in the United States. The risk of |
rhythm. Atrial fibrillation is characterized by episodes of uncoordinated |
related-gene |
gene-symbol |
ghr-page |
auricular fibrillation |
GTR |
C1837014 |
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developing this irregular heart rhythm increases with age. The incidence of the |
electrical activity (fibrillation) in the heart's upper chambers (the atria), |
GJA5 |
https://ghr.nlm.nih.gov/gene/GJA5 |
db |
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familial form of atrial fibrillation is unknown; however, recent studies suggest |
which cause a fast and irregular heartbeat. If untreated, this abnormal heart |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1837812 |
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that up to 30 percent of all people who have atrial fibrillation without an |
rhythm (arrhythmia) can lead to dizziness, chest pain, a sensation of fluttering |
KCNA5 |
https://ghr.nlm.nih.gov/gene/KCNA5 |
db |
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identified cause have a history of the condition in their family. |
or pounding in the chest (palpitations), shortness of breath, or fainting |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1843687 |
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(syncope). Atrial fibrillation also increases the risk of stroke and sudden |
KCNE2 |
https://ghr.nlm.nih.gov/gene/KCNE2 |
db |
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death. Complications of atrial fibrillation can occur at any age, although some |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1862394 |
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people with this heart condition never experience any health problems associated |
KCNH2 |
https://ghr.nlm.nih.gov/gene/KCNH2 |
db |
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with the disorder. |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C1969099 |
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KCNJ2 |
https://ghr.nlm.nih.gov/gene/KCNJ2 |
db |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C2677106 |
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KCNQ1 |
https://ghr.nlm.nih.gov/gene/KCNQ1 |
db |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C2677294 |
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LMNA |
https://ghr.nlm.nih.gov/gene/LMNA |
db |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C2751607 |
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MYL4 |
https://ghr.nlm.nih.gov/gene/MYL4 |
db |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C3151431 |
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NKX2-5 |
https://ghr.nlm.nih.gov/gene/NKX2-5 |
db |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3279693 |
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NPPA |
https://ghr.nlm.nih.gov/gene/NPPA |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3279695 |
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NUP155 |
https://ghr.nlm.nih.gov/gene/NUP155 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3809311 |
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PRKAG2 |
https://ghr.nlm.nih.gov/gene/PRKAG2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3809312 |
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RYR2 |
https://ghr.nlm.nih.gov/gene/RYR2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C4014269 |
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SCN1B |
https://ghr.nlm.nih.gov/gene/SCN1B |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C4310636 |
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SCN2B |
https://ghr.nlm.nih.gov/gene/SCN2B |
db |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
CN196901 |
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SCN3B |
https://ghr.nlm.nih.gov/gene/SCN3B |
db |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
CN204347 |
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SCN4B |
https://ghr.nlm.nih.gov/gene/SCN4B |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
CN220307 |
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SCN5A |
https://ghr.nlm.nih.gov/gene/SCN5A |
db |
key |
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ICD-10-CM |
I48 |
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db |
key |
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ICD-10-CM |
I48.3 |
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db |
key |
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ICD-10-CM |
I48.4 |
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db |
key |
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ICD-10-CM |
I48.9 |
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db |
key |
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MeSH |
D001281 |
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db |
key |
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|
OMIM |
607554 |
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db |
key |
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OMIM |
608583 |
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db |
key |
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OMIM |
608988 |
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db |
key |
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OMIM |
611493 |
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db |
key |
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OMIM |
611494 |
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db |
key |
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OMIM |
612201 |
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db |
key |
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OMIM |
612240 |
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db |
key |
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|
OMIM |
613055 |
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db |
key |
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OMIM |
613980 |
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db |
key |
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OMIM |
614022 |
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db |
key |
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OMIM |
614049 |
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db |
key |
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OMIM |
614050 |
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db |
key |
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OMIM |
615377 |
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db |
key |
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OMIM |
615378 |
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db |
key |
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OMIM |
615770 |
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db |
key |
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OMIM |
617280 |
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db |
key |
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Orphanet |
334 |
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db |
key |
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|
inheritance-pattern-list |
related-gene-list |
SNOMED CT |
49436004 |
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Familial candidiasis |
https://ghr.nlm.nih.gov/condition/familial-candidiasis |
Candida is present on the skin and mucous membranes of up to half the |
html:p |
Familial candidiasis is an inherited tendency to develop infections caused by a |
ad |
autosomal dominant |
ghr-page |
familial chronic mucocutaneous candidiasis |
db-key |
db |
key |
2016-09 |
2017-12-29 |
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家族性念珠菌症 |
population at any given time, normally without creating health problems. The |
html:i |
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inheritance-pattern |
code |
memo |
related-gene |
https://ghr.nlm.nih.gov/gene/CARD9 |
|
GTR |
C0341024 |
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prevalence of the inherited susceptibility to Candida infections that |
Candida |
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ar |
autosomal recessive |
ghr-page |
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db-key |
db |
key |
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characterizes familial candidiasis is unknown, but the condition is thought to |
related-gene |
https://ghr.nlm.nih.gov/gene/CLEC7A |
|
ICD-10-CM |
B37 |
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be rare. |
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ghr-page |
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db-key |
db |
key |
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related-gene |
https://ghr.nlm.nih.gov/gene/IL17F |
|
MeSH |
D002178 |
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html:p |
html:i |
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ghr-page |
|
db-key |
db |
key |
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Candida |
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related-gene |
https://ghr.nlm.nih.gov/gene/IL17RA |
|
OMIM |
114580 |
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ghr-page |
|
db-key |
db |
key |
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(candidiasis) in the mouth (where it is known as thrush) or in the vagina. |
related-gene |
https://ghr.nlm.nih.gov/gene/IL17RC |
|
OMIM |
212050 |
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These episodes, commonly called yeast infections, usually last only a short time |
ghr-page |
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db-key |
db |
key |
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before being cleared by a healthy immune system. |
related-gene |
https://ghr.nlm.nih.gov/gene/RORC |
|
OMIM |
607644 |
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html:p |
Most people with familial candidiasis have chronic or recurrent yeast infections |
ghr-page |
|
db-key |
db |
key |
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that begin in early childhood. Skin infections lead to a rash with crusty, |
related-gene |
https://ghr.nlm.nih.gov/gene/STAT1 |
|
OMIM |
613108 |
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thickened patches; when these patches occur on the scalp, they can cause loss of |
ghr-page |
|
db-key |
db |
key |
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hair in the affected area (scarring alopecia). Candidiasis of the nails can |
https://ghr.nlm.nih.gov/gene/TRAF3IP2 |
|
OMIM |
613953 |
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result in thick, cracked, and discolored nails and swelling and redness of the |
|
db-key |
db |
key |
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surrounding skin. Thrush and gastrointestinal symptoms such as bloating, |
|
|
OMIM |
613956 |
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constipation, or diarrhea are common in affected individuals. Women with |
|
db-key |
db |
key |
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familial candidiasis can develop frequent vaginal yeast infections, and infants |
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OMIM |
614162 |
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can have yeast infections on the skin that cause persistent diaper rash. |
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db-key |
db |
key |
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html:p |
Depending on the genetic change involved in this condition, some affected |
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OMIM |
615527 |
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individuals are at risk for developing systemic candidiasis, a more severe |
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db-key |
db |
key |
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condition in which the infection spreads through the bloodstream to various |
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OMIM |
616445 |
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organs including the brain and the meninges, which are the membranes covering |
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db-key |
db |
key |
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the brain and spinal cord. Systemic candidiasis can be life-threatening. |
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OMIM |
616622 |
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html:p |
Chronic or recurrent yeast infections can occur in people without familial |
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db-key |
db |
key |
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candidiasis. Some individuals experience recurrent candidiasis as part of a |
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Orphanet |
1334 |
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general susceptibility to infections because their immune systems are impaired |
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db-key |
db |
key |
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by a disease such as acquired immune deficiency syndrome (AIDS) or severe |
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SNOMED CT |
235073000 |
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combined immunodeficiency (SCID), medications, or other factors. Other |
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individuals have syndromes such as autoimmune |
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polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) or autosomal |
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dominant hyper-IgE syndrome (AD-HIES) that include a tendency to develop |
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candidiasis along with other signs and symptoms affecting various organs and |
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systems of the body. |
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related-gene-list |
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Familial cold autoinflammatory syndrome |
https://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome |
Familial cold autoinflammatory syndrome is a very rare condition, believed |
html:p |
Familial cold autoinflammatory syndrome is a condition that causes episodes of |
ad |
autosomal dominant |
NLRP3 |
https://ghr.nlm.nih.gov/gene/NLRP3 |
cold hypersensitivity |
db |
key |
2014-12 |
2017-12-29 |
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to have a prevalence of less than 1 per million people. |
fever, skin rash, and joint pain after exposure to cold temperatures. These |
related-gene |
gene-symbol |
ghr-page |
familial cold-induced autoinflammatory syndrome |
GTR |
C0343068 |
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episodes usually begin in infancy and occur throughout life. |
NLRP12 |
https://ghr.nlm.nih.gov/gene/NLRP12 |
familial cold urticaria |
db |
key |
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html:p |
People with this condition usually experience symptoms after cold exposure of an |
FCAS |
GTR |
C2673198 |
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hour or more, although in some individuals only a few minutes of exposure is |
FCU |
db |
key |
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required. Symptoms may be delayed for up to a few hours after the cold exposure. |
MeSH |
D056587 |
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Episodes last an average of 12 hours, but may continue for up to 3 days. |
db |
key |
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html:p |
In people with familial cold autoinflammatory syndrome, the most common symptom |
OMIM |
120100 |
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that occurs during an episode is an itchy or burning rash. The rash usually |
db |
key |
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begins on the face or extremities and spreads to the rest of the body. |
|
OMIM |
611762 |
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Occasionally swelling in the extremities may occur. |
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db |
key |
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html:p |
In addition to the skin rash, episodes are characterized by fever, chills, and |
Orphanet |
47045 |
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joint pain, most often affecting the hands, knees, and ankles. Redness in the |
db |
key |
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whites of the eye (conjunctivitis), sweating, drowsiness, headache, thirst, and |
SNOMED CT |
238687000 |
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nausea may also occur during an episode of this disorder. |
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related-gene-list |
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Familial cylindromatosis |
https://ghr.nlm.nih.gov/condition/familial-cylindromatosis |
Familial cylindromatosis is a rare disorder; its prevalence is unknown. |
html:p |
Familial cylindromatosis is a condition involving multiple skin tumors that |
ad |
autosomal dominant |
CYLD |
https://ghr.nlm.nih.gov/gene/CYLD |
Ancell-Spiegler cylindromas |
db |
key |
2012-06 |
2017-12-29 |
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家族性毛髮上皮瘤 |
|
develop from structures associated with the skin (skin appendages), such as |
cylindromatosis, familial |
GTR |
C1851526 |
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(Tumor) |
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hair follicles and sweat glands. People with familial cylindromatosis typically |
dermal eccrine cylindroma |
db |
key |
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develop large numbers of tumors called cylindromas. While previously thought to |
turban tumor syndrome |
MeSH |
D012878 |
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derive from sweat glands, cylindromas are now generally believed to begin in |
db |
key |
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hair follicles. |
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OMIM |
132700 |
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html:p |
Individuals with familial cylindromatosis occasionally develop other types of |
db |
key |
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tumors, including growths called spiradenomas and trichoepitheliomas. |
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SNOMED CT |
447147008 |
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Spiradenomas begin in sweat glands. Trichoepitheliomas arise from hair |
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follicles. The tumors associated with familial cylindromatosis are generally |
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noncancerous (benign), but occasionally they may become cancerous (malignant). |
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Affected individuals are also at increased risk of developing tumors in tissues |
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other than skin appendages, particularly benign or malignant tumors of the |
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salivary glands. |
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html:p |
People with familial cylindromatosis typically begin developing tumors in |
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adolescence or early adulthood. The tumors are most often found in hairy regions |
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of the body, with approximately 90 percent occurring on the head and neck. They |
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grow larger and increase in number over time. |
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html:p |
In severely affected individuals, multiple tumors on the scalp may combine into |
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a large, turban-like growth. Large growths frequently develop open sores |
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(ulcers) and are prone to infections. The tumors may also get in the way of the |
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eyes, ears, nose, or mouth and affect vision, hearing, or other functions. The |
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growths can be disfiguring and may contribute to depression or other |
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psychological problems. For reasons that are unclear, females with familial |
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cylindromatosis are often more severely affected than males. |
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related-gene-list |
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Familial dilated cardiomyopathy |
https://ghr.nlm.nih.gov/condition/familial-dilated-cardiomyopathy |
It is estimated that 750,000 people in the United States have dilated |
html:p |
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs |
ad |
autosomal dominant |
ABCC9 |
https://ghr.nlm.nih.gov/gene/ABCC9 |
congestive cardiomyopathy |
db |
key |
2017-04 |
2017-12-29 |
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家族性扩张型心肌病 |
cardiomyopathy; roughly half of these cases are familial. |
when heart (cardiac) muscle becomes thin and weakened in at least one chamber of |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
familial idiopathic cardiomyopathy |
GTR |
C0007193 |
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the heart, causing the open area of the chamber to become enlarged (dilated). |
ar |
autosomal recessive |
ACTC1 |
https://ghr.nlm.nih.gov/gene/ACTC1 |
FDC |
db |
key |
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As a result, the heart is unable to pump blood as efficiently as usual. To |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
primary familial dilated cardiomyopathy |
GeneReviews |
dbmd |
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compensate, the heart attempts to increase the amount of blood being pumped |
xd |
X-linked dominant |
ACTN2 |
https://ghr.nlm.nih.gov/gene/ACTN2 |
db |
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through the heart, leading to further thinning and weakening of the cardiac |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
dcm-lmna |
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muscle. Over time, this condition results in heart failure. |
ANKRD1 |
https://ghr.nlm.nih.gov/gene/ANKRD1 |
db |
key |
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html:p |
It usually takes many years for symptoms of familial dilated cardiomyopathy to |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
dcm-ov |
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cause health problems. They typically begin in mid-adulthood, but can occur at |
BAG3 |
https://ghr.nlm.nih.gov/gene/BAG3 |
db |
key |
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any time from infancy to late adulthood. Signs and symptoms of familial dilated |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
I42.0 |
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cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of |
CRYAB |
https://ghr.nlm.nih.gov/gene/CRYAB |
db |
key |
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breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D002311 |
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swelling of the legs and feet. In some cases, the first sign of the disorder is |
CSRP3 |
https://ghr.nlm.nih.gov/gene/CSRP3 |
db |
key |
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sudden cardiac death. The severity of the condition varies among affected |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
115200 |
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individuals, even in members of the same family. |
DES |
https://ghr.nlm.nih.gov/gene/DES |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
302045 |
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DMD |
https://ghr.nlm.nih.gov/gene/DMD |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
600884 |
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DSG2 |
https://ghr.nlm.nih.gov/gene/DSG2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
601154 |
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EYA4 |
https://ghr.nlm.nih.gov/gene/EYA4 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
601493 |
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GATAD1 |
https://ghr.nlm.nih.gov/gene/GATAD1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
601494 |
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LAMA4 |
https://ghr.nlm.nih.gov/gene/LAMA4 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
604145 |
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LDB3 |
https://ghr.nlm.nih.gov/gene/LDB3 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
604288 |
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LMNA |
https://ghr.nlm.nih.gov/gene/LMNA |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
604765 |
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MYBPC3 |
https://ghr.nlm.nih.gov/gene/MYBPC3 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
605362 |
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MYH6 |
https://ghr.nlm.nih.gov/gene/MYH6 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
605582 |
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MYH7 |
https://ghr.nlm.nih.gov/gene/MYH7 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
606685 |
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MYPN |
https://ghr.nlm.nih.gov/gene/MYPN |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
607482 |
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PLN |
https://ghr.nlm.nih.gov/gene/PLN |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
607487 |
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PSEN1 |
https://ghr.nlm.nih.gov/gene/PSEN1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
608569 |
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PSEN2 |
https://ghr.nlm.nih.gov/gene/PSEN2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
609909 |
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RBM20 |
https://ghr.nlm.nih.gov/gene/RBM20 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
609915 |
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SCN5A |
https://ghr.nlm.nih.gov/gene/SCN5A |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
611407 |
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SGCD |
https://ghr.nlm.nih.gov/gene/SGCD |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
611878 |
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TAZ |
https://ghr.nlm.nih.gov/gene/TAZ |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
611879 |
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TCAP |
https://ghr.nlm.nih.gov/gene/TCAP |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
611880 |
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TMPO |
https://ghr.nlm.nih.gov/gene/TMPO |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
612158 |
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TNNC1 |
https://ghr.nlm.nih.gov/gene/TNNC1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
612877 |
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TNNI3 |
https://ghr.nlm.nih.gov/gene/TNNI3 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
613172 |
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TNNT2 |
https://ghr.nlm.nih.gov/gene/TNNT2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
613252 |
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TPM1 |
https://ghr.nlm.nih.gov/gene/TPM1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
613424 |
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TTN |
https://ghr.nlm.nih.gov/gene/TTN |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
613426 |
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VCL |
https://ghr.nlm.nih.gov/gene/VCL |
db |
key |
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OMIM |
613694 |
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db |
key |
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OMIM |
613697 |
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db |
key |
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OMIM |
613881 |
|
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db |
key |
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|
OMIM |
614672 |
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db |
key |
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OMIM |
614672 |
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db |
key |
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OMIM |
615184 |
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db |
key |
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OMIM |
615235 |
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db |
key |
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OMIM |
615248 |
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db |
key |
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OMIM |
615396 |
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db |
key |
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Orphanet |
154 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
52029003 |
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Familial dysautonomia |
https://ghr.nlm.nih.gov/condition/familial-dysautonomia |
Familial dysautonomia occurs primarily in people of Ashkenazi (central or |
html:p |
Familial dysautonomia is a genetic disorder that affects the development and |
ar |
autosomal recessive |
ELP1 |
https://ghr.nlm.nih.gov/gene/ELP1 |
FD |
db |
key |
2013-08 |
2017-12-29 |
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家族性植物神经功能障碍症 |
eastern European) Jewish descent. It affects about 1 in 3,700 individuals in |
survival of certain nerve cells. The disorder disturbs cells in the autonomic |
HSAN Type III |
GTR |
C0013364 |
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Ashkenazi Jewish populations. Familial dysautonomia is extremely rare in the |
nervous system, which controls involuntary actions such as digestion, breathing, |
HSAN3 |
db |
key |
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general population. |
production of tears, and the regulation of blood pressure and body temperature. |
HSN-III |
GeneReviews |
fd |
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It also affects the sensory nervous system, which controls activities related |
Riley-Day Syndrome |
db |
key |
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to the senses, such as taste and the perception of pain, heat, and cold. |
|
ICD-10-CM |
G90.1 |
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Familial dysautonomia is also called hereditary sensory and autonomic |
|
db |
key |
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neuropathy, type III. |
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MeSH |
D004402 |
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html:p |
Problems related to this disorder first appear during infancy. Early signs and |
db |
key |
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symptoms include poor muscle tone (hypotonia), feeding difficulties, poor |
OMIM |
223900 |
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growth, lack of tears, frequent lung infections, and difficulty maintaining body |
db |
key |
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temperature. Older infants and young children with familial dysautonomia may |
Orphanet |
1764 |
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hold their breath for prolonged periods of time, which may cause a bluish |
db |
key |
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appearance of the skin or lips (cyanosis) or fainting. This breath-holding |
|
SNOMED CT |
29159009 |
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behavior usually stops by age 6. Developmental milestones, such as walking and |
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speech, are usually delayed, although some affected individuals show no signs of |
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developmental delay. |
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html:p |
Additional signs and symptoms in school-age children include bed wetting, |
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episodes of vomiting, reduced sensitivity to temperature changes and pain, poor |
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balance, abnormal curvature of the spine (scoliosis), poor bone quality and |
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increased risk of bone fractures, and kidney and heart problems. Affected |
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individuals also have poor regulation of blood pressure. They may experience a |
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sharp drop in blood pressure upon standing (orthostatic hypotension), which can |
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cause dizziness, blurred vision, or fainting. They can also have episodes of |
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high blood pressure when nervous or excited, or during vomiting incidents. About |
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one-third of children with familial dysautonomia have learning disabilities, |
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such as a short attention span, that require special education classes. By |
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adulthood, affected individuals often have increasing difficulties with balance |
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and walking unaided. Other problems that may appear in adolescence or early |
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adulthood include lung damage due to repeated infections, impaired kidney |
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function, and worsening vision due to the shrinking size (atrophy) of optic |
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nerves, which carry information from the eyes to the brain. |
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related-gene-list |
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Familial encephalopathy with neuroserpin inclusion bodies |
https://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclu |
This condition appears to be rare; only a few affected individuals have |
html:p |
Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder |
ad |
autosomal dominant |
SERPINI1 |
https://ghr.nlm.nih.gov/gene/SERPINI1 |
familial dementia with neuroserpin inclusion bodies |
db |
key |
2009-04 |
2017-12-29 |
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sion-bodies |
been reported worldwide. |
that causes progressive dysfunction of the brain (encephalopathy). It is |
FENIB |
GTR |
C1858680 |
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characterized by a loss of intellectual functioning (dementia) and seizures. At |
db |
key |
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first, affected individuals may have difficulty sustaining attention and |
|
MeSH |
D004831 |
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concentrating. They may experience repetitive thoughts, speech, or movements. As |
db |
key |
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the condition progresses, their personality changes and judgment, insight, and |
MeSH |
D020271 |
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memory become impaired. Affected people lose the ability to perform the |
db |
key |
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activities of daily living, and most eventually require comprehensive care. |
OMIM |
604218 |
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html:p |
The signs and symptoms of FENIB vary in their severity and age of onset. In |
db |
key |
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severe cases, the condition causes seizures and episodes of sudden, involuntary |
Orphanet |
85110 |
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muscle jerking or twitching (myoclonus) in addition to dementia. These signs can |
db |
key |
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appear as early as a person's teens. Less severe cases are characterized by a |
SNOMED CT |
702421006 |
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progressive decline in intellectual functioning beginning in a person's forties |
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or fifties. |
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related-gene-list |
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Familial erythrocytosis |
https://ghr.nlm.nih.gov/condition/familial-erythrocytosis |
Familial erythrocytosis is a rare condition; its prevalence is unknown. |
html:p |
Familial erythrocytosis is an inherited condition characterized by an increased |
ad |
autosomal dominant |
EGLN1 |
https://ghr.nlm.nih.gov/gene/EGLN1 |
benign familial polycythemia |
db |
key |
2012-08 |
2017-12-29 |
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家族性紅細胞增多症 |
|
number of red blood cells (erythrocytes). The primary function of these cells is |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
congenital erythrocytosis |
GTR |
C1837915 |
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to carry oxygen from the lungs to tissues and organs throughout the body. Signs |
ar |
autosomal recessive |
EPAS1 |
https://ghr.nlm.nih.gov/gene/EPAS1 |
familial polycythemia |
db |
key |
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and symptoms of familial erythrocytosis can include headaches, dizziness, |
related-gene |
gene-symbol |
ghr-page |
hereditary erythrocytosis |
GTR |
C1851490 |
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nosebleeds, and shortness of breath. The excess red blood cells also increase |
EPOR |
https://ghr.nlm.nih.gov/gene/EPOR |
primary familial polycythemia |
db |
key |
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the risk of developing abnormal blood clots that can block the flow of blood |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1853286 |
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through arteries and veins. If these clots restrict blood flow to essential |
VHL |
https://ghr.nlm.nih.gov/gene/VHL |
db |
key |
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organs and tissues (particularly the heart, lungs, or brain), they can cause |
GTR |
C2673187 |
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life-threatening complications such as a heart attack or stroke. However, many |
db |
key |
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people with familial erythrocytosis experience only mild signs and symptoms or |
GeneReviews |
pfcp |
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never have any problems related to their extra red blood cells. |
|
db |
key |
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ICD-10-CM |
D75.0 |
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db |
key |
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MeSH |
D011086 |
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db |
key |
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OMIM |
133100 |
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db |
key |
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OMIM |
263400 |
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db |
key |
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OMIM |
609820 |
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db |
key |
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OMIM |
611783 |
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db |
key |
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Orphanet |
90042 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
17342003 |
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Familial exudative vitreoretinopathy |
https://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy |
The prevalence of familial exudative vitreoretinopathy is unknown. It |
html:p |
Familial exudative vitreoretinopathy is a hereditary disorder that can cause |
ad |
autosomal dominant |
FZD4 |
https://ghr.nlm.nih.gov/gene/FZD4 |
FEVR |
db |
key |
2009-02 |
2017-12-29 |
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Familial exudativevitreoretinopathy |
appears to be rare, although affected people with normal vision may never come |
progressive vision loss. This condition affects the retina, the specialized |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1844579 |
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家族性滲出性玻璃體視網膜病變 |
to medical attention. |
light-sensitive tissue that lines the back of the eye. The disorder prevents |
ar |
autosomal recessive |
LRP5 |
https://ghr.nlm.nih.gov/gene/LRP5 |
db |
key |
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(Vision) |
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blood vessels from forming at the edges of the retina, which reduces the blood |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1851402 |
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supply to this tissue. |
xr |
X-linked recessive |
NDP |
https://ghr.nlm.nih.gov/gene/NDP |
db |
key |
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The signs and symptoms of familial exudative vitreoretinopathy vary widely, even |
GTR |
C1854002 |
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within the same family. In many affected individuals, the retinal |
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abnormalities never cause any vision problems. In others, a reduction in the |
GTR |
C1866176 |
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retina's blood supply causes the retina to fold, tear, or separate from the back |
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of the eye (retinal detachment). This retinal damage can lead to vision loss |
GeneReviews |
fevr |
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and blindness. Other eye abnormalities are also possible, including eyes that |
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do not look in the same direction (strabismus) and a visible whiteness |
GeneReviews |
norrie |
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(leukocoria) in the normally black pupil. |
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html:p |
Some people with familial exudative vitreoretinopathy also have reduced bone |
MeSH |
D012164 |
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mineral density, which weakens bones and increases the risk of fractures. |
db |
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OMIM |
133780 |
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db |
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OMIM |
305390 |
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db |
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OMIM |
601813 |
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db |
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OMIM |
605750 |
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db |
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Orphanet |
891 |
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db |
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related-gene-list |
|
SNOMED CT |
232063007 |
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Familial focal epilepsy with variable foci |
https://ghr.nlm.nih.gov/condition/familial-focal-epilepsy-with-variable-foci |
The prevalence of FFEVF is unknown. |
html:p |
Familial focal epilepsy with variable foci (FFEVF) is an uncommon form of |
ad |
autosomal dominant |
DEPDC5 |
https://ghr.nlm.nih.gov/gene/DEPDC5 |
familial partial epilepsy with variable foci |
db |
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2017-03 |
2017-12-29 |
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recurrent seizures (epilepsy) that runs in families. Seizures associated with |
related-gene |
gene-symbol |
ghr-page |
FFEVF |
GTR |
C1858477 |
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FFEVF can begin at any time from infancy to adulthood. The seizures are |
NPRL2 |
https://ghr.nlm.nih.gov/gene/NPRL2 |
partial epilepsy with variable foci |
db |
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described as focal or partial, which means they begin in one region of the brain |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C4310708 |
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and do not cause a loss of consciousness. In more than 70 percent of affected |
NPRL3 |
https://ghr.nlm.nih.gov/gene/NPRL3 |
db |
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individuals, these seizures begin in one of two areas of the brain, either the |
GTR |
C4310709 |
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temporal lobe or the frontal lobe. The region of the brain where the seizures |
db |
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start tends to stay the same over time. In rare instances, seizure activity that |
GeneReviews |
depdc5-epilepsy |
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starts in one area spreads to affect the entire brain and causes a loss of |
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consciousness, muscle stiffening, and rhythmic jerking. Episodes that begin as |
MeSH |
D004828 |
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partial seizures and spread throughout the brain are known as secondarily |
db |
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generalized seizures. |
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OMIM |
604364 |
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html:p |
Among family members with FFEVF, individuals may not have the same brain region |
db |
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affected (variable foci), meaning that one person's seizures may not begin in |
OMIM |
617116 |
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the same part of the brain as their affected relative. |
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html:p |
Some individuals with FFEVF also have a brain malformation called focal cortical |
OMIM |
617118 |
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dysplasia. Seizures in these individuals are typically not well-controlled with |
db |
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medication. |
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Orphanet |
98820 |
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html:p |
Most people with FFEVF are intellectually normal, and there are no problems with |
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their brain function between seizures. However, some people with FFEVF have |
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developed psychiatric disorders (such as schizophrenia), behavioral problems, or |
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intellectual disability. It is unclear whether these additional features are |
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directly related to epilepsy in these individuals. |
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related-gene-list |
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Familial glucocorticoid deficiency |
https://ghr.nlm.nih.gov/condition/familial-glucocorticoid-deficiency |
The prevalence of familial glucocorticoid deficiency is unknown. |
html:p |
Familial glucocorticoid deficiency is a condition that occurs when the adrenal |
ar |
autosomal recessive |
MC2R |
https://ghr.nlm.nih.gov/gene/MC2R |
ACTH resistance |
db |
key |
2015-02 |
2017-12-29 |
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ACTH Resistance syndrome |
glands, which are hormone-producing glands located on top of each kidney, do not |
related-gene |
gene-symbol |
ghr-page |
adrenal unresponsiveness to ACTH |
GTR |
C1836621 |
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腎上腺皮促素抗性症候群 |
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produce certain hormones called glucocorticoids. These hormones, which include |
MCM4 |
https://ghr.nlm.nih.gov/gene/MCM4 |
glucocorticoid deficiency |
db |
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cortisol and corticosterone, aid in immune system function, play a role in |
related-gene |
gene-symbol |
ghr-page |
hereditary unresponsiveness to adrenocorticotropic hormone |
GTR |
C1846284 |
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maintaining normal blood sugar levels, help trigger nerve cell signaling in the |
MRAP |
https://ghr.nlm.nih.gov/gene/MRAP |
isolated glucocorticoid deficiency |
db |
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brain, and serve many other purposes in the body. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1859974 |
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html:p |
A shortage of adrenal hormones (adrenal insufficiency) causes the signs and |
NNT |
https://ghr.nlm.nih.gov/gene/NNT |
db |
key |
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symptoms of familial glucocorticoid deficiency. These signs and symptoms often |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1864947 |
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begin in infancy or early childhood. Most affected children first develop low |
TXNRD2 |
https://ghr.nlm.nih.gov/gene/TXNRD2 |
db |
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blood sugar (hypoglycemia). These hypoglycemic children can fail to grow and |
GTR |
C3553587 |
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gain weight at the expected rate (failure to thrive). If left untreated, |
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hypoglycemia can lead to seizures, learning difficulties, and other neurological |
MeSH |
D000309 |
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problems. Hypoglycemia that is left untreated for prolonged periods can lead to |
db |
key |
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neurological damage and death. Other features of familial glucocorticoid |
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OMIM |
202200 |
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deficiency can include recurrent infections and skin coloring darker than that |
db |
key |
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of other family members (hyperpigmentation). |
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OMIM |
607398 |
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html:p |
There are multiple types of familial glucocorticoid deficiency, which are |
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db |
key |
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distinguished by their genetic cause. |
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OMIM |
609197 |
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db |
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OMIM |
609981 |
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db |
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OMIM |
614736 |
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db |
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Orphanet |
361 |
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db |
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related-gene-list |
|
SNOMED CT |
71974009 |
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Familial HDL deficiency |
https://ghr.nlm.nih.gov/condition/familial-hdl-deficiency |
Familial HDL deficiency is a rare disorder, although the prevalence is |
html:p |
Familial HDL deficiency is a condition characterized by low levels of |
ad |
autosomal dominant |
ABCA1 |
https://ghr.nlm.nih.gov/gene/ABCA1 |
familial hypoalphalipoproteinemia |
db |
key |
2012-11 |
2017-12-29 |
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家族性高密度脂蛋白缺乏 |
unknown. |
high-density lipoprotein (HDL) in the blood. HDL is a molecule that transports |
related-gene |
gene-symbol |
ghr-page |
FHA |
GTR |
C1704429 |
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cholesterol and certain fats called phospholipids through the bloodstream from |
APOA1 |
https://ghr.nlm.nih.gov/gene/APOA1 |
HDL deficiency, type 2 |
db |
key |
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the body's tissues to the liver. Once in the liver, cholesterol and |
HDLD |
MeSH |
D052456 |
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phospholipids are redistributed to other tissues or removed from the body. HDL |
low serum HDL cholesterol |
db |
key |
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is often referred to as "good cholesterol" because high levels of this substance |
primary hypoalphalipoproteinemia |
OMIM |
604091 |
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reduce the chances of developing heart and blood vessel (cardiovascular) |
db |
key |
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disease. People with familial HDL deficiency may develop cardiovascular disease |
SNOMED CT |
15346004 |
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at a relatively young age, often before age 50. |
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db |
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html:p |
Severely reduced levels of HDL in the blood is a characteristic feature of a |
SNOMED CT |
190785000 |
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related disorder called Tangier disease. People with Tangier disease have |
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additional signs and symptoms, such as disturbances in nerve function; enlarged, |
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orange-colored tonsils; and clouding of the clear covering of the eye (corneal |
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clouding). However, people with familial HDL deficiency do not have these |
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additional features. |
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related-gene-list |
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Familial hemiplegic migraine |
https://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine |
The worldwide prevalence of familial hemiplegic migraine is unknown. |
html:p |
Familial hemiplegic migraine is a form of migraine headache that runs in |
ad |
autosomal dominant |
ATP1A2 |
https://ghr.nlm.nih.gov/gene/ATP1A2 |
hemiplegic migraine, familial |
db |
key |
2014-01 |
2017-12-29 |
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家族性偏瘫性偏头痛 |
Studies suggest that in Denmark about 1 in 10,000 people have hemiplegic |
families. Migraines usually cause intense, throbbing pain in one area of the |
related-gene |
gene-symbol |
ghr-page |
hemiplegic-ophthalmoplegic migraine |
GTR |
C0338484 |
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(Headache) |
migraine and that the condition occurs equally in families with multiple |
head, often accompanied by nausea, vomiting, and extreme sensitivity to light |
CACNA1A |
https://ghr.nlm.nih.gov/gene/CACNA1A |
db |
key |
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affected individuals (familial hemiplegic migraine) and in individuals with no |
and sound. These recurrent headaches typically begin in childhood or adolescence |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1832894 |
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family history of the condition (sporadic hemiplegic migraine). Like other forms |
and can be triggered by certain foods, emotional stress, and minor head trauma. |
PRRT2 |
https://ghr.nlm.nih.gov/gene/PRRT2 |
db |
key |
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of migraine, familial hemiplegic migraine affects females more often than |
Each headache may last from a few hours to a few days. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1864987 |
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males. |
html:p |
In some types of migraine, including familial hemiplegic migraine, a pattern of |
SCN1A |
https://ghr.nlm.nih.gov/gene/SCN1A |
db |
key |
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neurological symptoms called an aura precedes the headache. The most common |
GTR |
C1865322 |
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symptoms associated with an aura are temporary visual changes such as blind |
db |
key |
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spots (scotomas), flashing lights, zig-zagging lines, and double vision. In |
GeneReviews |
fhm |
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people with familial hemiplegic migraine, auras are also characterized by |
db |
key |
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temporary numbness or weakness, often affecting one side of the body |
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ICD-10-CM |
G43.409 |
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(hemiparesis). Additional features of an aura can include difficulty with |
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db |
key |
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speech, confusion, and drowsiness. An aura typically develops gradually over a |
MeSH |
D020325 |
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few minutes and lasts about an hour. |
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db |
key |
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html:p |
Unusually severe migraine episodes have been reported in some people with |
OMIM |
141500 |
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familial hemiplegic migraine. These episodes have included fever, seizures, |
db |
key |
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prolonged weakness, coma, and, rarely, death. Although most people with familial |
OMIM |
602481 |
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hemiplegic migraine recover completely between episodes, neurological symptoms |
db |
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such as memory loss and problems with attention can last for weeks or months. |
OMIM |
609634 |
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About 20 percent of people with this condition develop mild but permanent |
db |
key |
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difficulty coordinating movements (ataxia), which may worsen with time, and |
Orphanet |
569 |
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rapid, involuntary eye movements called nystagmus. |
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db |
key |
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related-gene-list |
|
SNOMED CT |
95656000 |
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Familial hemophagocytic lymphohistiocytosis |
https://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis |
Familial hemophagocytic lymphohistiocytosis occurs in approximately 1 in |
html:p |
Familial hemophagocytic lymphohistiocytosis is a disorder in which the immune |
ar |
autosomal recessive |
PRF1 |
https://ghr.nlm.nih.gov/gene/PRF1 |
familial erythrophagocytic lymphohistiocytosis |
db |
key |
2014-11 |
2017-12-29 |
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家族性噬血细胞性淋巴组织细胞增多症 |
50,000 individuals worldwide. |
system produces too many activated immune cells (lymphocytes) called T cells, |
related-gene |
gene-symbol |
ghr-page |
familial hemophagocytic histiocytosis |
GTR |
C0272199 |
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(Immune) |
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natural killer cells, B cells, and macrophages (histiocytes). Excessive amounts |
STX11 |
https://ghr.nlm.nih.gov/gene/STX11 |
familial hemophagocytic lymphocytosis |
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of immune system proteins called cytokines are also produced. This |
related-gene |
gene-symbol |
ghr-page |
familial hemophagocytic reticulosis |
GTR |
C1837174 |
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overactivation of the immune system causes fever and damages the liver and |
STXBP2 |
https://ghr.nlm.nih.gov/gene/STXBP2 |
FEL |
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spleen, resulting in enlargement of these organs. |
related-gene |
gene-symbol |
ghr-page |
FHL |
GTR |
C1863727 |
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html:p |
Familial hemophagocytic lymphohistiocytosis also destroys blood-producing cells |
UNC13D |
https://ghr.nlm.nih.gov/gene/UNC13D |
FHLH |
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in the bone marrow, a process called hemophagocytosis. As a result, affected |
hemophagocytic syndrome |
GTR |
C1863728 |
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individuals have low numbers of red blood cells (anemia) and a reduction in the |
HPLH |
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number of platelets, which are involved in clotting. A reduction in platelets |
primary hemophagocytic hymphohistiocytosis |
GTR |
C2751293 |
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may cause easy bruising and abnormal bleeding. |
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html:p |
The brain may also be affected in familial hemophagocytic lymphohistiocytosis. |
GTR |
CN034020 |
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As a result, affected individuals may experience irritability, delayed closure |
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of the bones of the skull in infants, neck stiffness, abnormal muscle tone, |
GeneReviews |
hlh |
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impaired muscle coordination, paralysis, blindness, seizures, and coma. In |
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addition to neurological problems, familial hemophagocytic lymphohistiocytosis |
ICD-10-CM |
D76.1 |
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can cause abnormalities of the heart, kidneys, and other organs and tissues. |
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Affected individuals also have an increased risk of developing cancers of |
MeSH |
D051359 |
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blood-forming cells (leukemia and lymphoma). |
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html:p |
Signs and symptoms of familial hemophagocytic lymphohistiocytosis usually become |
OMIM |
267700 |
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worth include in prenatal test |
apparent during infancy, although occasionally they appear later in life. They |
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usually occur when the immune system launches an exaggerated response to an |
OMIM |
603552 |
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infection, but may also occur in the absence of infection. Without treatment, |
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most people with familial hemophagocytic lymphohistiocytosis survive only a few |
OMIM |
603553 |
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months. |
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OMIM |
608898 |
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db |
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OMIM |
613101 |
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db |
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Orphanet |
540 |
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db |
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related-gene-list |
|
SNOMED CT |
398250003 |
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Familial hyperaldosteronism |
https://ghr.nlm.nih.gov/condition/familial-hyperaldosteronism |
The prevalence of familial hyperaldosteronism is unknown. Familial |
html:p |
Familial hyperaldosteronism is a group of inherited conditions in which the |
ad |
autosomal dominant |
CYP11B1 |
https://ghr.nlm.nih.gov/gene/CYP11B1 |
familial primary aldosteronism |
db |
key |
2014-04 |
2017-12-29 |
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家族性醛固酮增多症 |
hyperaldosteronism type II appears to be the most common variety. All types of |
adrenal glands, which are small glands located on top of each kidney, produce |
related-gene |
gene-symbol |
ghr-page |
FH |
GTR |
C1260386 |
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familial hyperaldosteronism combined account for fewer than 1 out of 10 cases of |
too much of the hormone aldosterone. Aldosterone helps control the amount of |
CYP11B2 |
https://ghr.nlm.nih.gov/gene/CYP11B2 |
hereditary aldosteronism |
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hyperaldosteronism. |
salt retained by the kidneys. Excess aldosterone causes the kidneys to retain |
related-gene |
gene-symbol |
ghr-page |
hyperaldosteronism, familial |
GTR |
C3150933 |
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more salt than normal, which in turn increases the body's fluid levels and blood |
KCNJ5 |
https://ghr.nlm.nih.gov/gene/KCNJ5 |
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pressure. People with familial hyperaldosteronism may develop severe high blood |
ICD-10-CM |
E26.02 |
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pressure (hypertension), often early in life. Without treatment, hypertension |
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increases the risk of strokes, heart attacks, and kidney failure. |
|
MeSH |
D006929 |
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html:p |
Familial hyperaldosteronism is categorized into three types, distinguished by |
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their clinical features and genetic causes. In familial hyperaldosteronism type |
OMIM |
103900 |
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I, hypertension generally appears in childhood to early adulthood and can range |
db |
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from mild to severe. This type can be treated with steroid medications called |
OMIM |
605635 |
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glucocorticoids, so it is also known as glucocorticoid-remediable aldosteronism |
db |
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(GRA). In familial hyperaldosteronism type II, hypertension usually appears in |
OMIM |
613677 |
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early to middle adulthood and does not improve with glucocorticoid treatment. In |
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most individuals with familial hyperaldosteronism type III, the adrenal glands |
Orphanet |
403 |
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are enlarged up to six times their normal size. These affected individuals have |
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severe hypertension that starts in childhood. The hypertension is difficult to |
Orphanet |
404 |
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treat and often results in damage to organs such as the heart and kidneys. |
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Rarely, individuals with type III have milder symptoms with treatable |
|
Orphanet |
251274 |
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hypertension and no adrenal gland enlargement. |
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html:p |
There are other forms of hyperaldosteronism that are not familial. These |
|
SNOMED CT |
703231005 |
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conditions are caused by various problems in the adrenal glands or kidneys. In |
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some cases, a cause for the increase in aldosterone levels cannot be found. |
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related-gene-list |
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Familial hypertrophic cardiomyopathy |
https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy |
Familial hypertrophic cardiomyopathy affects an estimated 1 in 500 people |
html:p |
Familial hypertrophic cardiomyopathy is a heart condition characterized by |
ad |
autosomal dominant |
ACTC1 |
https://ghr.nlm.nih.gov/gene/ACTC1 |
familial asymmetric septal hypertrophy |
db |
key |
2015-08 |
2017-12-29 |
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家族性肥厚性心肌症 |
worldwide. It is the most common genetic heart disease in the United States. |
thickening (hypertrophy) of the heart (cardiac) muscle. Thickening usually |
related-gene |
gene-symbol |
ghr-page |
HCM |
GTR |
C1860752 |
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(Heart Disease) |
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occurs in the interventricular septum, which is the muscular wall that separates |
ACTN2 |
https://ghr.nlm.nih.gov/gene/ACTN2 |
hereditary ventricular hypertrophy |
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key |
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the lower left chamber of the heart (the left ventricle) from the lower right |
related-gene |
gene-symbol |
ghr-page |
heritable hypertrophic cardiomyopathy |
GTR |
C1861862 |
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chamber (the right ventricle). In some people, thickening of the |
CALR3 |
https://ghr.nlm.nih.gov/gene/CALR3 |
idiopathic hypertrophic subaortic stenosis |
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interventricular septum impedes the flow of oxygen-rich blood from the heart, |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1861864 |
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which may lead to an abnormal heart sound during a heartbeat (heart murmur) and |
CSRP3 |
https://ghr.nlm.nih.gov/gene/CSRP3 |
db |
key |
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other signs and symptoms of the condition. Other affected individuals do not |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3495498 |
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have physical obstruction of blood flow, but the pumping of blood is less |
JPH2 |
https://ghr.nlm.nih.gov/gene/JPH2 |
db |
key |
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efficient, which can also lead to symptoms of the condition. Cardiac hypertrophy |
related-gene |
gene-symbol |
ghr-page |
|
GeneReviews |
hyper-card |
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often begins in adolescence or young adulthood, although it can develop at any |
MYBPC3 |
https://ghr.nlm.nih.gov/gene/MYBPC3 |
db |
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time throughout life. |
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related-gene |
gene-symbol |
ghr-page |
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MeSH |
D024741 |
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html:p |
The symptoms of familial hypertrophic cardiomyopathy are variable, even within |
MYH7 |
https://ghr.nlm.nih.gov/gene/MYH7 |
db |
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the same family. Many affected individuals have no symptoms. Other people with |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
115195 |
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familial hypertrophic cardiomyopathy may experience chest pain; shortness of |
MYL2 |
https://ghr.nlm.nih.gov/gene/MYL2 |
db |
key |
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breath, especially with physical exertion; a sensation of fluttering or pounding |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
115196 |
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in the chest (palpitations); lightheadedness; dizziness; and fainting. |
MYL3 |
https://ghr.nlm.nih.gov/gene/MYL3 |
db |
key |
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html:p |
While most people with familial hypertrophic cardiomyopathy are symptom-free or |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
115197 |
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have only mild symptoms, this condition can have serious consequences. It can |
MYOZ2 |
https://ghr.nlm.nih.gov/gene/MYOZ2 |
db |
key |
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cause abnormal heart rhythms (arrhythmias) that may be life threatening. People |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
192600 |
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with familial hypertrophic cardiomyopathy have an increased risk of sudden |
NEXN |
https://ghr.nlm.nih.gov/gene/NEXN |
db |
key |
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death, even if they have no other symptoms of the condition. A small number of |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
600858 |
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affected individuals develop potentially fatal heart failure, which may require |
PLN |
https://ghr.nlm.nih.gov/gene/PLN |
db |
key |
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heart transplantation. |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
608751 |
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PRKAG2 |
https://ghr.nlm.nih.gov/gene/PRKAG2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
608758 |
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TCAP |
https://ghr.nlm.nih.gov/gene/TCAP |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
612098 |
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TNNI3 |
https://ghr.nlm.nih.gov/gene/TNNI3 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
612124 |
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TNNT2 |
https://ghr.nlm.nih.gov/gene/TNNT2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
613243 |
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TPM1 |
https://ghr.nlm.nih.gov/gene/TPM1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
613251 |
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TTN |
https://ghr.nlm.nih.gov/gene/TTN |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
613255 |
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VCL |
https://ghr.nlm.nih.gov/gene/VCL |
db |
key |
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OMIM |
613690 |
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db |
key |
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OMIM |
613765 |
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db |
key |
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OMIM |
613838 |
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db |
key |
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OMIM |
613873 |
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db |
key |
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OMIM |
613874 |
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db |
key |
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OMIM |
613875 |
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db |
key |
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OMIM |
613876 |
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db |
key |
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OMIM |
614676 |
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db |
key |
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Orphanet |
99739 |
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db |
key |
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|
SNOMED CT |
360465008 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
83978005 |
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Familial hypobetalipoproteinemia |
https://ghr.nlm.nih.gov/condition/familial-hypobetalipoproteinemia |
FHBL is estimated to occur in 1 in 1,000 to 3,000 individuals. |
html:p |
Familial hypobetalipoproteinemia (FHBL) is a disorder that impairs the body's |
ac |
autosomal codominant |
ANGPTL3 |
https://ghr.nlm.nih.gov/gene/ANGPTL3 |
FHBL |
db |
key |
2012-08 |
2017-12-29 |
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家族性β-脂蛋白过少血症 |
|
ability to absorb and transport fats. This condition is characterized by low |
related-gene |
gene-symbol |
ghr-page |
hypobetalipoproteinemia |
GTR |
C1857970 |
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levels of a fat-like substance called cholesterol in the blood. The severity of |
APOB |
https://ghr.nlm.nih.gov/gene/APOB |
db |
key |
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signs and symptoms experienced by people with FHBL vary widely. The most mildly |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1862596 |
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affected individuals have few problems with absorbing fats from the diet and no |
PCSK9 |
https://ghr.nlm.nih.gov/gene/PCSK9 |
db |
key |
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related signs and symptoms. Many individuals with FHBL develop an abnormal |
ICD-10-CM |
E78.6 |
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buildup of fats in the liver called hepatic steatosis or fatty liver. In more |
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db |
key |
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severely affected individuals, fatty liver may progress to chronic liver disease |
MeSH |
D006995 |
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(cirrhosis). Individuals with severe FHBL have greater difficulty absorbing |
db |
key |
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fats as well as fat-soluble vitamins such as vitamin E and vitamin A. This |
|
OMIM |
107730 |
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difficulty in fat absorption leads to excess fat in the feces (steatorrhea). In |
db |
key |
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childhood, these digestive problems can result in an inability to grow or gain |
OMIM |
605019 |
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weight at the expected rate (failure to thrive). |
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db |
key |
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Orphanet |
426 |
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db |
key |
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SNOMED CT |
190786004 |
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db |
key |
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SNOMED CT |
238093009 |
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db |
key |
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SNOMED CT |
238094003 |
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Familial hypoplastic, glomerulocystic kidney |
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db |
key |
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related-gene-list |
|
SNOMED CT |
60193003 |
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Familial idiopathic basal ganglia calcification |
https://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcificatio |
FIBGC is thought to be a rare disorder; about 60 affected families have |
html:p |
Familial idiopathic basal ganglia calcification (FIBGC, formerly known as Fahr |
ad |
autosomal dominant |
PDGFRB |
https://ghr.nlm.nih.gov/gene/PDGFRB |
bilateral striopallidodentate calcinosis |
db |
key |
2013-02 |
2017-12-29 |
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n |
been described in the medical literature. However, because brain imaging tests |
disease) is a condition characterized by abnormal deposits of calcium |
related-gene |
gene-symbol |
ghr-page |
cerebrovascular ferrocalcinosis |
GTR |
C0393590 |
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are needed to recognize the calcium deposits, this condition is believed to be |
(calcification) in the brain. These calcium deposits typically occur in the |
SLC20A2 |
https://ghr.nlm.nih.gov/gene/SLC20A2 |
FIBGC |
db |
key |
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underdiagnosed. |
basal ganglia, which are structures deep within the brain that help start and |
striopallidodentate calcinosis |
GTR |
C1847731 |
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control movement; however, other brain regions can also be affected. |
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db |
key |
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html:p |
The signs and symptoms of FIBGC include movement disorders and psychiatric or |
GTR |
C3554321 |
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behavioral difficulties. These problems begin in adulthood, usually in a |
db |
key |
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person's thirties. The movement difficulties experienced by people with FIBGC |
GeneReviews |
bgc |
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include involuntary tensing of various muscles (dystonia), problems coordinating |
db |
key |
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movements (ataxia), and uncontrollable movements of the limbs |
|
MeSH |
D001480 |
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(choreoathetosis). Affected individuals often have seizures as well. The |
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db |
key |
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psychiatric and behavioral problems include difficulty concentrating, memory |
OMIM |
213600 |
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loss, changes in personality, a distorted view of reality (psychosis), and |
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db |
key |
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decline in intellectual function (dementia). An estimated 20 to 30 percent of |
OMIM |
606656 |
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people with FIBGC have one of these psychiatric disorders. |
|
db |
key |
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html:p |
The severity of this condition varies among affected individuals; some people |
OMIM |
615007 |
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have no symptoms related to the brain calcification, whereas other people have |
db |
key |
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significant movement and psychiatric problems. |
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Orphanet |
1980 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
110997000 |
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Familial isolated hyperparathyroidism |
https://ghr.nlm.nih.gov/condition/familial-isolated-hyperparathyroidism |
The prevalence of familial isolated hyperparathyroidism is unknown. |
html:p |
Familial isolated hyperparathyroidism is an inherited condition characterized by |
ad |
autosomal dominant |
CASR |
https://ghr.nlm.nih.gov/gene/CASR |
FIHP |
db |
key |
2012-08 |
2017-12-29 |
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overactivity of the parathyroid glands (hyperparathyroidism). The four |
related-gene |
gene-symbol |
ghr-page |
hyperparathyroidism 1 |
GTR |
C1840402 |
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parathyroid glands are located in the neck, and they release a hormone called |
CDC73 |
https://ghr.nlm.nih.gov/gene/CDC73 |
db |
key |
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parathyroid hormone that regulates the amount of calcium in the blood. In |
related-gene |
gene-symbol |
ghr-page |
|
GeneReviews |
hrpt2 |
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familial isolated hyperparathyroidism, one or more overactive parathyroid glands |
MEN1 |
https://ghr.nlm.nih.gov/gene/MEN1 |
db |
key |
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release excess parathyroid hormone, which causes the levels of calcium in the |
ICD-10-CM |
E21.0 |
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blood to rise (hypercalcemia). Parathyroid hormone stimulates the removal of |
db |
key |
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calcium from bone and the absorption of calcium from the diet, and the mineral |
MeSH |
D049950 |
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is then released into the bloodstream. |
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db |
key |
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html:p |
In people with familial isolated hyperparathyroidism, the production of excess |
OMIM |
145000 |
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parathyroid hormone is caused by tumors that involve the parathyroid glands. |
db |
key |
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Typically only one of the four parathyroid glands is affected, but in some |
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Orphanet |
99879 |
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people, more than one gland develops a tumor. The tumors are usually |
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noncancerous (benign), in which case they are called adenomas. Rarely, people |
SNOMED CT |
237653008 |
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with familial isolated hyperparathyroidism develop a cancerous tumor called |
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parathyroid carcinoma. Because the production of excess parathyroid hormone is |
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caused by abnormalities of the parathyroid glands, familial isolated |
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hyperparathyroidism is considered a form of primary hyperparathyroidism. |
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html:p |
Disruption of the normal calcium balance resulting from overactive parathyroid |
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glands causes many of the common signs and symptoms of familial isolated |
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hyperparathyroidism, such as kidney stones, nausea, vomiting, high blood |
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pressure (hypertension), weakness, and fatigue. Because calcium is removed from |
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bones to be released into the bloodstream, hyperparathyroidism often causes |
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thinning of the bones (osteoporosis). The age at which familial isolated |
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hyperparathyroidism is diagnosed varies from childhood to adulthood. Often, the |
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first indication of the condition is elevated calcium levels identified through |
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a routine blood test, even though the affected individual may not yet have signs |
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or symptoms of hyperparathyroidism or hypercalcemia. |
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related-gene-list |
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Familial isolated pituitary adenoma |
https://ghr.nlm.nih.gov/condition/familial-isolated-pituitary-adenoma |
Pituitary adenomas, including sporadic tumors, are relatively common; they |
html:p |
Familial isolated pituitary adenoma (FIPA) is an inherited condition |
ad |
autosomal dominant |
AIP |
https://ghr.nlm.nih.gov/gene/AIP |
FIPA |
db |
key |
2013-08 |
2017-12-29 |
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家族性脑垂体瘤 |
are identified in an estimated 1 in 1,000 people. FIPA, though, is quite rare, |
characterized by development of a noncancerous tumor in the pituitary gland |
GTR |
CN169290 |
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accounting for approximately 2 percent of pituitary adenomas. More than 200 |
(called a pituitary adenoma). The pituitary gland, which is found at the base of |
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families with FIPA have been described in the medical literature. |
the brain, produces hormones that control many important body functions. |
GeneReviews |
ipa |
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html:p |
Tumors that form in the pituitary gland can release excess levels of one or more |
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hormones, although some tumors do not produce hormones (nonfunctioning |
MeSH |
D010911 |
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pituitary adenomas). Those that do are typically distinguished by the particular |
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hormones they produce. Prolactinomas are the most common tumors in FIPA. These |
OMIM |
102200 |
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tumors release prolactin, a hormone that stimulates breast milk production in |
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females. Both women and men can develop prolactinomas, although they are more |
Orphanet |
314777 |
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common in women. In women, these tumors may lead to changes in the menstrual |
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cycle or difficulty becoming pregnant. Some affected women may produce breast |
SNOMED CT |
702375004 |
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milk, even though they are not pregnant or nursing. In men, prolactinomas may |
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cause erectile dysfunction or decreased interest in sex. Rarely, affected men |
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produce breast milk. Large prolactinomas can press on nearby tissues such as the |
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nerves that carry information from the eyes to the brain (the optic nerves), |
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causing problems with vision. |
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html:p |
Another type of tumor called somatotropinoma is also common in FIPA. These |
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tumors release growth hormone (also called somatotropin), which promotes growth |
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of the body. Somatotropinomas in children or adolescents can lead to increased |
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height (gigantism), because the long bones of their arms and legs are still |
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growing. In adults, growth of the long bones has stopped, but the tumors can |
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cause overgrowth of the hands, feet, and face (acromegaly) as well as other |
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tissues. |
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html:p |
Less common tumor types in FIPA include somatolactotropinomas, nonfunctioning |
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pituitary adenomas, adrenocorticotropic hormone-secreting tumors (which cause a |
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condition known as Cushing disease), thyrotropinomas, and gonadotropinomas. In a |
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family with the condition, affected members can develop the same type of tumor |
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(homogenous FIPA) or different types (heterogenous FIPA). |
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html:p |
In FIPA, pituitary tumors usually occur at a younger age than sporadic pituitary |
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adenomas, which are not inherited. In general, FIPA tumors are also larger than |
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sporadic pituitary tumors. Often, people with FIPA have macroadenomas, which |
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are tumors larger than 10 millimeters. |
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html:p |
Familial pituitary adenomas can occur as one of many features in other inherited |
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conditions such as multiple endocrine neoplasia type 1 and Carney complex; |
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however, in FIPA, the pituitary adenomas are described as isolated because only |
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the pituitary gland is affected. |
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related-gene-list |
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Familial lipoprotein lipase deficiency |
https://ghr.nlm.nih.gov/condition/familial-lipoprotein-lipase-deficiency |
This condition affects about 1 per million people worldwide. It is much |
html:p |
Familial lipoprotein lipase deficiency is an inherited condition that disrupts |
ar |
autosomal recessive |
LPL |
https://ghr.nlm.nih.gov/gene/LPL |
Burger-Grutz syndrome |
db |
key |
2015-02 |
2017-12-29 |
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familial hyperchylomicronemia |
more common in certain areas of the province of Quebec, Canada. |
the normal breakdown of fats in the body, resulting in an increase of certain |
endogenous hypertriglyceridaemia |
GTR |
C0023817 |
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家族性高乳糜微粒血症 |
|
kinds of fats. |
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familial fat-induced hypertriglyceridemia |
db |
key |
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html:p |
People with familial lipoprotein lipase deficiency typically develop signs and |
familial hyperchylomicronemia |
GeneReviews |
lpl |
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symptoms before age 10, with one-quarter showing symptoms by age 1. The first |
familial LPL deficiency |
db |
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symptom of this condition is usually abdominal pain, which can vary from mild to |
hyperlipoproteinemia type I |
ICD-10-CM |
E78.3 |
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severe. The abdominal pain is often due to inflammation of the pancreas |
hyperlipoproteinemia type Ia |
db |
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(pancreatitis). These episodes of pancreatitis begin as sudden (acute) attacks. |
lipase D deficiency |
MeSH |
D008072 |
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If left untreated, pancreatitis can develop into a chronic condition that can |
LIPD deficiency |
db |
key |
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damage the pancreas and, in rare cases, be life-threatening. |
lipoprotein lipase deficiency, familial |
OMIM |
238600 |
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html:p |
Affected individuals may also have an enlarged liver and spleen |
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(hepatosplenomegaly). The higher the levels of fat in the body, the larger the |
Orphanet |
444490 |
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liver and spleen become. As fat levels rise, certain white blood cells called |
db |
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macrophages take in excess fat in an attempt to rid fat from the bloodstream. |
SNOMED CT |
238086005 |
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After taking in fat, the macrophages travel to the liver and spleen, where the |
db |
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fatty cells accumulate. |
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SNOMED CT |
267435002 |
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html:p |
Approximately half of individuals with familial lipoprotein lipase deficiency |
db |
key |
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develop small yellow deposits of fat under the skin called eruptive xanthomas. |
SNOMED CT |
275598004 |
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These fat deposits most commonly appear on the trunk, buttocks, knees, and arms. |
db |
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Eruptive xanthomas are small (about 1 millimeter in diameter), but individual |
SNOMED CT |
403827000 |
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xanthomas can cluster together to form larger patches. They are generally not |
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painful unless exposed to repeated friction or abrasion. Eruptive xanthomas |
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begin to appear when fat intake increases and levels rise; the deposits |
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disappear when fat intake slows and levels decrease. |
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html:p |
The blood of people with familial lipoprotein lipase deficiency can have a milky |
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appearance due to its high fat content. When fat levels get very high in people |
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with this condition, fats can accumulate in blood vessels in the tissue that |
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lines the back of the eye (the retina). The fat buildup gives this tissue a pale |
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pink appearance when examined (lipemia retinalis). This fat accumulation does |
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not affect vision and will disappear once fats from the diet are reduced and |
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levels in the body decrease. |
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html:p |
In people with familial lipoprotein lipase deficiency, increased fat levels can |
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also cause neurological features, such as depression, memory loss, and mild |
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intellectual decline (dementia). These problems are remedied when dietary fat |
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levels normalize. |
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Familial Hypokalemia |
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家族性低血鉀症 |
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related-gene-list |
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Familial male-limited precocious puberty |
https://ghr.nlm.nih.gov/condition/familial-male-limited-precocious-puberty |
Familial male-limited precocious puberty is a rare disorder; its prevalence |
html:p |
Familial male-limited precocious puberty is a condition that causes early sexual |
ad |
autosomal dominant |
LHCGR |
https://ghr.nlm.nih.gov/gene/LHCGR |
familial gonadotrophin-independent sexual precocity |
db |
key |
2012-08 |
2017-12-29 |
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is unknown. |
development in males; females are not affected. Boys with this disorder begin |
GIPP |
GTR |
C0342549 |
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exhibiting the signs of puberty in early childhood, between the ages of 2 and 5. |
gonadotrophin-independent precocious puberty |
db |
key |
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Signs of male puberty include a deepening voice, acne, increased body hair, |
precocious pseudopuberty |
ICD-10-CM |
E29.0 |
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underarm odor, growth of the penis and testes, and spontaneous erections. |
pubertas praecox |
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Changes in behavior, such as increased aggression and early interest in sex, may |
testotoxicosis |
MeSH |
D011629 |
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also occur. Without treatment, affected boys grow quickly at first, but they |
db |
key |
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stop growing earlier than usual. As a result, they tend to be shorter in |
|
OMIM |
176410 |
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adulthood compared with other members of their family. |
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Orphanet |
3000 |
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db |
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related-gene-list |
|
SNOMED CT |
237818003 |
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Familial Mediterranean fever |
https://ghr.nlm.nih.gov/condition/familial-mediterranean-fever |
Familial Mediterranean fever primarily affects populations originating in |
html:p |
Familial Mediterranean fever is an inherited condition characterized by |
ad |
autosomal dominant |
MEFV |
https://ghr.nlm.nih.gov/gene/MEFV |
benign paroxysmal peritonitis |
db |
key |
2014-06 |
2017-12-29 |
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家族性地中海熱 |
the Mediterranean region, particularly people of Armenian, Arab, Turkish, or |
recurrent episodes of painful inflammation in the abdomen, chest, or joints. |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
familial paroxysmal polyserositis |
GTR |
C0031069 |
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Jewish ancestry. The disorder affects 1 in 200 to 1,000 people in these |
These episodes are often accompanied by fever and sometimes a rash or headache. |
ar |
autosomal recessive |
SAA1 |
https://ghr.nlm.nih.gov/gene/SAA1 |
FMF |
db |
key |
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populations. It is less common in other populations. |
Occasionally inflammation may occur in other parts of the body, such as the |
MEF |
GeneReviews |
fmf |
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heart; the membrane surrounding the brain and spinal cord; and in males, the |
recurrent polyserositis |
db |
key |
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testicles. In about half of affected individuals, attacks are preceded by mild |
Reimann periodic disease |
ICD-10-CM |
E85.0 |
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signs and symptoms known as a prodrome. Prodromal symptoms include mildly |
Siegal-Cattan-Mamou disease |
db |
key |
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uncomfortable sensations in the area that will later become inflamed, or more |
Wolff periodic disease |
MeSH |
D010505 |
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general feelings of discomfort. |
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db |
key |
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html:p |
The first episode of illness in familial Mediterranean fever usually occurs in |
OMIM |
249100 |
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childhood or the teenage years, but in some cases, the initial attack occurs |
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much later in life. Typically, episodes last 12 to 72 hours and can vary in |
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342 |
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severity. The length of time between attacks is also variable and can range from |
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days to years. During these periods, affected individuals usually have no signs |
SNOMED CT |
12579009 |
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or symptoms related to the condition. However, without treatment to help |
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prevent attacks and complications, a buildup of protein deposits (amyloidosis) |
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in the body's organs and tissues may occur, especially in the kidneys, which can |
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lead to kidney failure. |
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related-gene-list |
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Familial osteochondritis dissecans |
https://ghr.nlm.nih.gov/condition/familial-osteochondritis-dissecans |
Familial osteochondritis dissecans is a rare condition, although the |
html:p |
Familial osteochondritis dissecans is a condition that affects the joints and is |
ad |
autosomal dominant |
ACAN |
https://ghr.nlm.nih.gov/gene/ACAN |
fOCD |
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2012-10 |
2017-12-29 |
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家族性剥脱性骨软骨炎 |
prevalence is unknown. Sporadic osteochondritis dissecans is more common; it is |
associated with abnormal cartilage. Cartilage is a tough but flexible tissue |
OCD |
GTR |
C0029421 |
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estimated to occur in the knee in 15 to 29 per 100,000 individuals. |
that covers the ends of the bones at joints and is also part of the developing |
OD |
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skeleton. A characteristic feature of familial osteochondritis dissecans is |
osteochondritis dissecans, short stature, and early-onset osteoarthritis |
ICD-10-CM |
M93.2 |
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areas of bone damage (lesions) caused by detachment of cartilage and a piece of |
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the underlying bone from the end of the bone at a joint. People with this |
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ICD-10-CM |
M93.20 |
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condition develop multiple lesions that affect several joints, primarily the |
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knees, elbows, hips, and ankles. The lesions cause stiffness, pain, and swelling |
ICD-10-CM |
M93.21 |
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in the joint. Often, the affected joint feels like it catches or locks during |
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movement. Other characteristic features of familial osteochondritis dissecans |
ICD-10-CM |
M93.22 |
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include short stature and development of a joint disorder called osteoarthritis |
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at an early age. Osteoarthritis is characterized by the breakdown of joint |
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ICD-10-CM |
M93.23 |
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cartilage and the underlying bone. It causes pain and stiffness and restricts |
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the movement of joints. |
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ICD-10-CM |
M93.24 |
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html:p |
A similar condition called sporadic osteochondritis dissecans is associated with |
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a single lesion in one joint, most often the knee. These cases may be caused by |
ICD-10-CM |
M93.25 |
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injury to or repetitive use of the joint (often sports-related). Some people |
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with sporadic osteochondritis dissecans develop osteoarthritis in the affected |
ICD-10-CM |
M93.26 |
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joint, especially if the lesion occurs later in life after the bone has stopped |
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growing. Short stature is not associated with this form of the condition. |
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ICD-10-CM |
M93.27 |
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ICD-10-CM |
M93.28 |
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ICD-10-CM |
M93.29 |
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ICD-10-CM |
M93.211 |
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ICD-10-CM |
M93.212 |
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ICD-10-CM |
M93.219 |
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ICD-10-CM |
M93.221 |
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ICD-10-CM |
M93.222 |
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ICD-10-CM |
M93.229 |
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ICD-10-CM |
M93.231 |
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ICD-10-CM |
M93.232 |
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ICD-10-CM |
M93.239 |
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ICD-10-CM |
M93.241 |
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ICD-10-CM |
M93.242 |
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ICD-10-CM |
M93.249 |
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db |
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ICD-10-CM |
M93.251 |
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db |
key |
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ICD-10-CM |
M93.252 |
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db |
key |
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ICD-10-CM |
M93.259 |
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db |
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ICD-10-CM |
M93.261 |
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db |
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ICD-10-CM |
M93.262 |
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db |
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ICD-10-CM |
M93.269 |
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db |
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ICD-10-CM |
M93.271 |
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db |
key |
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ICD-10-CM |
M93.272 |
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db |
key |
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ICD-10-CM |
M93.279 |
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db |
key |
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MeSH |
D010008 |
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db |
key |
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OMIM |
165800 |
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db |
key |
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Orphanet |
251262 |
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db |
key |
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related-gene-list |
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SNOMED CT |
82562007 |
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Familial paroxysmal kinesigenic dyskinesia |
https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia |
Familial paroxysmal kinesigenic dyskinesia is estimated to occur in 1 in |
html:p |
Familial paroxysmal kinesigenic dyskinesia is a disorder characterized by |
ad |
autosomal dominant |
PRRT2 |
https://ghr.nlm.nih.gov/gene/PRRT2 |
dystonia 10 |
db |
key |
2014-01 |
2017-12-29 |
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陣發性動作手足舞蹈徐動症 |
150,000 individuals. For unknown reasons, this condition affects more males than |
episodes of abnormal movement that range from mild to severe. In the condition |
episodic kinesigenic dyskinesia |
GTR |
C1868682 |
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females. |
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name, the word paroxysmal indicates that the abnormal movements come and go over |
familial paroxysmal dystonia |
db |
key |
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time, kinesigenic means that episodes are triggered by movement, and dyskinesia |
paroxysmal kinesigenic choreoathetosis |
GeneReviews |
pknd |
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refers to involuntary movement of the body. |
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paroxysmal kinesigenic dyskinesia |
db |
key |
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html:p |
People with familial paroxysmal kinesigenic dyskinesia experience episodes of |
MeSH |
D020820 |
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irregular jerking or shaking movements that are induced by sudden motion, such |
db |
key |
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as standing up quickly or being startled. An episode may involve slow, prolonged |
OMIM |
128200 |
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muscle contractions (dystonia); small, fast, "dance-like" motions (chorea); |
db |
key |
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writhing movements of the limbs (athetosis); or, rarely, flailing movements of |
Orphanet |
31709 |
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the limbs (ballismus). Familial paroxysmal kinesigenic dyskinesia may affect one |
db |
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or both sides of the body. The type of abnormal movement varies among affected |
Orphanet |
98809 |
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individuals, even among members of the same family. In many people with familial |
db |
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paroxysmal kinesigenic dyskinesia, a pattern of symptoms called an aura |
SNOMED CT |
609221008 |
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immediately precedes the episode. The aura is often described as a crawling or |
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tingling sensation in the affected body part. Individuals with this condition do |
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not lose consciousness during an episode and do not experience any symptoms |
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between episodes. |
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html:p |
Individuals with familial paroxysmal kinesigenic dyskinesia usually begin to |
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show signs and symptoms of the disorder during childhood or adolescence. |
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Episodes typically last less than five minutes, and the frequency of episodes |
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ranges from one per month to 100 per day. In most affected individuals, episodes |
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occur less often with age. |
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html:p |
In some people with familial paroxysmal kinesigenic dyskinesia the disorder |
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begins in infancy with recurring seizures called benign infantile convulsions. |
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These seizures usually develop in the first year of life and stop by age 3. When |
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benign infantile convulsions are associated with familial paroxysmal |
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kinesigenic dyskinesia, the condition is known as infantile convulsions and |
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choreoathetosis (ICCA). In families with ICCA, some individuals develop only |
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benign infantile convulsions, some have only familial paroxysmal kinesigenic |
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dyskinesia, and others develop both. |
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related-gene-list |
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Familial paroxysmal nonkinesigenic dyskinesia |
https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia |
Familial paroxysmal nonkinesigenic dyskinesia is a very rare disorder. Its |
html:p |
Familial paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous |
ad |
autosomal dominant |
PNKD |
https://ghr.nlm.nih.gov/gene/PNKD |
familial paroxysmal choreoathetosis |
db |
key |
2017-08 |
2017-12-29 |
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家族性陣發性非動作誘發型運動困難 |
prevalence is estimated to be 1 in 5 million people. |
system that causes episodes of involuntary movement. Paroxysmal indicates that |
Mount-Reback syndrome |
GTR |
C1869117 |
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the abnormal movements come and go over time. Nonkinesigenic means that episodes |
nonkinesigenic choreoathetosis |
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are not triggered by sudden movement. Dyskinesia broadly refers to involuntary |
paroxysmal dystonic choreoathetosis |
GTR |
C1970149 |
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movement of the body. |
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paroxysmal nonkinesigenic dyskinesia |
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html:p |
People with familial paroxysmal nonkinesigenic dyskinesia experience episodes of |
PDC |
GeneReviews |
pnknd |
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abnormal movement that are brought on by alcohol, caffeine, stress, fatigue, |
PNKD |
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menses, or excitement or develop without a known cause. Episodes are not induced |
MeSH |
D020820 |
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by exercise or sudden movement and do not occur during sleep. An episode is |
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characterized by irregular, jerking or shaking movements that range from mild to |
OMIM |
118800 |
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severe. In this disorder, the dyskinesia can include slow, prolonged |
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contraction of muscles (dystonia); small, fast, "dance-like" motions (chorea); |
OMIM |
611147 |
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writhing movements of the limbs (athetosis); and, rarely, flailing movements of |
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the limbs (ballismus). The dyskinesia also affects muscles in the torso and |
SNOMED CT |
609218006 |
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face. The type of abnormal movement varies among affected individuals, even |
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among affected members of the same family. Individuals with familial paroxysmal |
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nonkinesigenic dyskinesia do not lose consciousness during an episode. Most |
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people do not experience any neurological symptoms between episodes. |
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html:p |
Individuals with familial paroxysmal nonkinesigenic dyskinesia usually begin to |
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show signs and symptoms of the disorder during childhood or their early teens. |
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Episodes typically last 1 to 4 hours, and the frequency of episodes ranges from |
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several per day to one per year. In some affected individuals, episodes occur |
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less often with age. |
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related-gene-list |
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Familial partial lipodystrophy |
https://ghr.nlm.nih.gov/condition/familial-partial-lipodystrophy |
Familial partial lipodystrophy is a rare disease, affecting an estimated 1 |
html:p |
Familial partial lipodystrophy is a rare condition characterized by an abnormal |
ad |
autosomal dominant |
ADRA2A |
https://ghr.nlm.nih.gov/gene/ADRA2A |
Dunnigan-Kobberling syndrome |
db |
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2016-09 |
2017-12-29 |
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家族性部分脂肪代谢障碍 |
in 1 million people overall. Type 2 is the most common form, with more than 500 |
distribution of fatty (adipose) tissue. Adipose tissue is normally found in many |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
FPL |
GTR |
C0271694 |
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cases reported in the medical literature. Women tend to be diagnosed with |
parts of the body, including beneath the skin and surrounding the internal |
ar |
autosomal recessive |
AKT2 |
https://ghr.nlm.nih.gov/gene/AKT2 |
Kobberling-Dunnigan syndrome |
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familial partial lipodystrophy more often than men, probably because a loss of |
organs. It stores fat as a source of energy and also provides cushioning. In |
related-gene |
gene-symbol |
ghr-page |
lipodystrophy, familial partial |
GTR |
C1720859 |
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fat from the hips and limbs is more easily recognized in women, and |
people with familial partial lipodystrophy, adipose tissue is lost from the |
CIDEC |
https://ghr.nlm.nih.gov/gene/CIDEC |
db |
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complications such as diabetes and hypertriglyceridemia occur more commonly in |
arms, legs, and hips, giving these parts of the body a very muscular appearance. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1720860 |
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women. |
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The fat that cannot be stored in the limbs builds up around the face and neck, |
LIPE |
https://ghr.nlm.nih.gov/gene/LIPE |
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and inside the abdomen. Excess fat in these areas gives individuals an |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1720861 |
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appearance described as "cushingoid," because it resembles the physical features |
LMNA |
https://ghr.nlm.nih.gov/gene/LMNA |
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associated with a hormonal disorder called Cushing disease. This abnormal fat |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3151268 |
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distribution can begin anytime from childhood to adulthood. |
PLIN1 |
https://ghr.nlm.nih.gov/gene/PLIN1 |
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html:p |
Abnormal storage of fat in the body can lead to health problems in adulthood. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3808940 |
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Many people with familial partial lipodystrophy develop insulin resistance, a |
PPARG |
https://ghr.nlm.nih.gov/gene/PPARG |
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condition in which the body's tissues cannot adequately respond to insulin, |
GTR |
C4014869 |
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which is a hormone that normally helps to regulate blood sugar levels. Insulin |
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resistance may worsen to become a more serious disease called diabetes mellitus. |
MeSH |
D052496 |
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Some people with familial partial lipodystrophy develop acanthosis nigricans, a |
db |
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skin condition related to high levels of insulin in the bloodstream. Acanthosis |
OMIM |
151660 |
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nigricans causes the skin in body folds and creases to become thick, dark, and |
db |
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velvety. |
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OMIM |
604367 |
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html:p |
Most people with familial partial lipodystrophy also have high levels of fats |
db |
key |
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called triglycerides circulating in the bloodstream (hypertriglyceridemia), |
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OMIM |
608600 |
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which can lead to inflammation of the pancreas (pancreatitis). Familial partial |
db |
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lipodystrophy can also cause an abnormal buildup of fats in the liver (hepatic |
OMIM |
613877 |
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steatosis), which can result in an enlarged liver (hepatomegaly) and abnormal |
db |
key |
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liver function. After puberty, some affected females develop multiple cysts on |
OMIM |
615238 |
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the ovaries, an increased amount of body hair (hirsutism), and an inability to |
db |
key |
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conceive (infertility), which are likely related to hormonal changes. |
|
OMIM |
615980 |
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html:p |
Researchers have described at least six forms of familial partial lipodystrophy, |
db |
key |
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which are distinguished by their genetic cause. The most common form of |
Orphanet |
98306 |
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familial partial lipodystrophy is type 2, also called Dunnigan disease. In |
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addition to the signs and symptoms described above, some people with this type |
SNOMED CT |
49292002 |
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of the disorder develop muscle weakness (myopathy), abnormalities of the heart |
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muscle (cardiomyopathy), a form of heart disease called coronary artery disease, |
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and problems with the electrical system that coordinates the heartbeat (the |
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conduction system). |
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related-gene-list |
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Familial pityriasis rubra pilaris |
https://ghr.nlm.nih.gov/condition/familial-pityriasis-rubra-pilaris |
Familial pityriasis rubra pilaris is a rare condition. Its incidence is |
html:p |
Familial pityriasis rubra pilaris is a rare genetic condition that affects the |
ad |
autosomal dominant |
CARD14 |
https://ghr.nlm.nih.gov/gene/CARD14 |
familial PRP |
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2013-03 |
2017-12-29 |
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家族性毛孔性紅糠疹 |
unknown, although the familial form appears to be the least common type of |
skin. The name of the condition reflects its major features: The term |
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GTR |
C0032027 |
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(Skin) |
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pityriasis rubra pilaris. |
"pityriasis" refers to scaling; "rubra" means redness; and "pilaris" suggests |
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the involvement of hair follicles in this disorder. Affected individuals have a |
ICD-10-CM |
L44.0 |
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salmon-colored skin rash covered in fine scales. This rash occurs in patches all |
db |
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over the body, with distinct areas of unaffected skin between the patches. |
MeSH |
D010916 |
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Affected individuals also develop bumps called follicular keratoses that occur |
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around hair follicles. The skin on the palms of the hands and soles of the feet |
OMIM |
173200 |
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often becomes thick, hard, and callused, a condition known as palmoplantar |
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keratoderma. |
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Orphanet |
2897 |
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html:p |
Researchers have distinguished six types of pityriasis rubra pilaris based on |
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the features of the disorder and the age at which signs and symptoms appear. The |
SNOMED CT |
238622008 |
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familial form is usually considered part of type V, which is also known as the |
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atypical juvenile type. People with familial pityriasis rubra pilaris typically |
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have skin abnormalities from birth or early childhood, and these skin problems |
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persist throughout life. |
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inheritance-pattern-list |
related-gene-list |
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Familial porencephaly |
https://ghr.nlm.nih.gov/condition/familial-porencephaly |
Familial porencephaly is a rare condition, although the exact prevalence is |
html:p |
Familial porencephaly is part of a group of conditions called the COL4A1-related disorders. |
ad |
autosomal dominant |
COL4A1 |
synonym |
db-key |
db |
key |
2011-09 |
2017-12-29 |
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家族性腦穿通畸形 |
unknown. At least eight affected families have been described in the scientific |
The conditions in this group have a range of signs and symptoms that involve |
synonym |
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GTR |
C1867983 |
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literature. |
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fragile blood vessels. In familial porencephaly, fluid-filled cysts develop in the |
synonym |
db-key |
db |
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brain (porencephaly) during fetal development or soon after birth. These cysts |
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GeneReviews |
col4a1-dis |
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typically occur in only one side of the brain and vary in size. The cysts are |
db-key |
db |
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thought to be the result of bleeding within the brain (hemorrhagic stroke). |
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ICD-10-CM |
Q04.6 |
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People with this condition also have leukoencephalopathy, which is a change in |
db-key |
db |
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a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI). |
MeSH |
D065708 |
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html:p |
During infancy, people with familial porencephaly typically have paralysis |
db-key |
db |
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affecting one side of the body (infantile hemiplegia). Affected individuals may |
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OMIM |
175780 |
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also have recurrent seizures (epilepsy), migraine headaches, speech problems, |
db-key |
db |
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intellectual disability, and uncontrolled muscle tensing (dystonia). Some people |
|
Orphanet |
99810 |
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are severely affected, and others may have no symptoms related to the brain |
db-key |
db |
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cysts. |
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SNOMED CT |
38353004 |
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related-gene-list |
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Familial restrictive cardiomyopathy |
https://ghr.nlm.nih.gov/condition/familial-restrictive-cardiomyopathy |
The prevalence of familial restrictive cardiomyopathy is unknown. Although |
html:p |
Familial restrictive cardiomyopathy is a genetic form of heart disease. For the |
ad |
autosomal dominant |
ACTC1 |
https://ghr.nlm.nih.gov/gene/ACTC1 |
cardiomyopathy, restrictive |
db |
key |
2011-01 |
2017-12-29 |
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cardiomyopathy is a relatively common condition, restrictive cardiomyopathy, in |
heart to beat normally, the heart (cardiac) muscle must contract and relax in a |
related-gene |
gene-symbol |
ghr-page |
RCM |
GTR |
C0340429 |
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which relaxation of the heart muscle is impaired, is the least common type. Some |
coordinated way. Oxygen-rich blood from the lungs travels first through the |
MYH7 |
https://ghr.nlm.nih.gov/gene/MYH7 |
db |
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other forms of cardiomyopathy involve a weak or enlarged heart muscle with |
upper chambers of the heart (the atria), and then to the lower chambers of the |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1861861 |
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impaired contraction. In the United States and in Europe, restrictive |
heart (the ventricles). |
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TNNI3 |
https://ghr.nlm.nih.gov/gene/TNNI3 |
db |
key |
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cardiomyopathy accounts for less than five percent of all cardiomyopathies. The |
html:p |
In people with familial restrictive cardiomyopathy, the heart muscle is stiff |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1865071 |
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proportion of restrictive cardiomyopathy that runs in families is not known. |
and cannot fully relax after each contraction. Impaired muscle relaxation causes |
TNNT2 |
https://ghr.nlm.nih.gov/gene/TNNT2 |
db |
key |
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blood to back up in the atria and lungs, which reduces the amount of blood in |
GTR |
C2676271 |
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the ventricles. |
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db |
key |
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html:p |
Familial restrictive cardiomyopathy can appear anytime from childhood to |
ICD-10-CM |
I42.5 |
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adulthood. The first signs and symptoms of this condition in children are |
db |
key |
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failure to gain weight and grow at the expected rate (failure to thrive), |
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MeSH |
D002313 |
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extreme tiredness (fatigue), and fainting. Children who are severely affected |
db |
key |
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may also have abnormal swelling or puffiness (edema), increased blood pressure, |
OMIM |
115210 |
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an enlarged liver, an abnormal buildup of fluid in the abdominal cavity |
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db |
key |
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(ascites), and lung congestion. Some children with familial restrictive |
|
OMIM |
609578 |
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cardiomyopathy do not have any obvious signs or symptoms, but they may die |
db |
key |
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suddenly due to heart failure. Without treatment, the majority of affected |
OMIM |
612422 |
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children survive only a few years after they are diagnosed. |
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db |
key |
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html:p |
Adults with familial restrictive cardiomyopathy typically first develop |
|
Orphanet |
217635 |
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shortness of breath, fatigue, and a reduced ability to exercise. Some |
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db |
key |
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individuals have an irregular heart beat (arrhythmia) and may also experience a |
SNOMED CT |
233878008 |
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sensation of fluttering or pounding in the chest (palpitations) and dizziness. |
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Abnormal blood clots are commonly seen in adults with this condition. Without |
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treatment, approximately one-third of adults with familial restrictive |
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cardiomyopathy do not survive more than five years after diagnosis. |
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related-gene-list |
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Familial thoracic aortic aneurysm and dissection |
https://ghr.nlm.nih.gov/condition/familial-thoracic-aortic-aneurysm-and-dissecti |
Familial TAAD is believed to account for at least 20 percent of thoracic |
html:p |
Familial thoracic aortic aneurysm and dissection (familial TAAD) involves |
ad |
autosomal dominant |
ACTA2 |
https://ghr.nlm.nih.gov/gene/ACTA2 |
annuloaortic ectasia |
db |
key |
2015-01 |
2017-12-29 |
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家族性胸腔主動脈瘤剝離症候群 |
on |
aortic aneurysms and dissections. In the remainder of cases, the abnormalities |
problems with the aorta, which is the large blood vessel that distributes blood |
related-gene |
gene-symbol |
ghr-page |
congenital aneurysm of ascending aorta |
GTR |
C0345050 |
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are thought to be caused by factors that are not inherited, such as damage to |
from the heart to the rest of the body. Familial TAAD affects the upper part of |
FBN1 |
https://ghr.nlm.nih.gov/gene/FBN1 |
FAA |
db |
key |
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the walls of the aorta from aging, tobacco use, injury, or disease.While aortic |
the aorta, near the heart. This part of the aorta is called the thoracic aorta |
related-gene |
gene-symbol |
ghr-page |
familial aortic aneurysm |
GTR |
C1846837 |
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aneurysms are common worldwide, it is difficult to determine their exact |
because it is located in the chest (thorax). Other vessels that carry blood from |
MYH11 |
https://ghr.nlm.nih.gov/gene/MYH11 |
familial aortic dissection |
db |
key |
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prevalence because they usually cause no symptoms unless they rupture. Ruptured |
the heart to the rest of the body (arteries) can also be affected. |
related-gene |
gene-symbol |
ghr-page |
familial TAAD |
GTR |
C1851504 |
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aortic aneurysms and dissections are estimated to cause almost 30,000 deaths in |
html:p |
In familial TAAD, the aorta can become weakened and stretched (aortic |
MYLK |
https://ghr.nlm.nih.gov/gene/MYLK |
familial thoracic aortic aneurysm |
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key |
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the United States each year. |
dilatation), which can lead to a bulge in the blood vessel wall (an aneurysm). |
related-gene |
gene-symbol |
ghr-page |
FTAAD |
GTR |
C2673186 |
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Aortic dilatation may also lead to a sudden tearing of the layers in the aorta |
PRKG1 |
https://ghr.nlm.nih.gov/gene/PRKG1 |
TAA |
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wall (aortic dissection), allowing blood to flow abnormally between the layers. |
related-gene |
gene-symbol |
ghr-page |
TAAD |
GTR |
CN118826 |
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These aortic abnormalities are potentially life-threatening because they can |
SMAD3 |
https://ghr.nlm.nih.gov/gene/SMAD3 |
thoracic aortic aneurysm |
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decrease blood flow to other parts of the body such as the brain or other vital |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
taa |
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organs, or cause the aorta to break open (rupture). |
TGFBR1 |
https://ghr.nlm.nih.gov/gene/TGFBR1 |
db |
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html:p |
The occurrence and timing of these aortic abnormalities vary, even within the |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
I71.0 |
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same affected family. They can begin in childhood or not occur until late in |
TGFBR2 |
https://ghr.nlm.nih.gov/gene/TGFBR2 |
db |
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life. Aortic dilatation is generally the first feature of familial TAAD to |
ICD-10-CM |
I71.00 |
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develop, although in some affected individuals dissection occurs with little or |
db |
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no aortic dilatation. |
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ICD-10-CM |
I71.01 |
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html:p |
Aortic aneurysms usually have no symptoms. However, depending on the size, |
db |
key |
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growth rate, and location of these abnormalities, they can cause pain in the |
ICD-10-CM |
I71.1 |
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jaw, neck, chest, or back; swelling in the arms, neck, or head; difficult or |
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painful swallowing; hoarseness; shortness of breath; wheezing; a chronic cough; |
ICD-10-CM |
I71.2 |
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or coughing up blood. Aortic dissections usually cause severe, sudden chest or |
db |
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back pain, and may also result in unusually pale skin (pallor), a very faint |
ICD-10-CM |
I71.03 |
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pulse, numbness or tingling (paresthesias) in one or more limbs, or paralysis. |
db |
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html:p |
Familial TAAD may not be associated with other signs and symptoms. However, some |
ICD-10-CM |
I71.5 |
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individuals in affected families show mild features of related conditions |
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called Marfan syndrome or Loeys-Dietz syndrome. These features include tall |
ICD-10-CM |
I71.6 |
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stature, stretch marks on the skin, an unusually large range of joint movement |
db |
key |
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(joint hypermobility), and either a sunken or protruding chest. Occasionally, |
MeSH |
D017545 |
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people with familial TAAD develop aneurysms in the brain or in the section of |
db |
key |
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the aorta located in the abdomen (abdominal aorta). Some people with familial |
OMIM |
132900 |
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TAAD have heart abnormalities that are present from birth (congenital). Affected |
db |
key |
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individuals may also have a soft out-pouching in the lower abdomen (inguinal |
OMIM |
607086 |
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hernia), an abnormal curvature of the spine (scoliosis), or a purplish skin |
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db |
key |
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discoloration (livedo reticularis) caused by abnormalities in the tiny blood |
OMIM |
607087 |
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vessels of the skin (dermal capillaries). However, these conditions are also |
db |
key |
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common in the general population. Depending on the genetic cause of familial |
OMIM |
611788 |
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TAAD in particular families, they may have an increased risk of developing |
db |
key |
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blockages in smaller arteries, which can lead to heart attack and stroke. |
OMIM |
613780 |
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db |
key |
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OMIM |
615436 |
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db |
key |
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Orphanet |
229 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
433068007 |
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Fanconi anemia |
https://ghr.nlm.nih.gov/condition/fanconi-anemia |
Fanconi anemia occurs in 1 in 160,000 individuals worldwide. This condition |
html:p |
Fanconi anemia is a condition that affects many parts of the body. People with |
ar |
autosomal recessive |
BRCA2 |
https://ghr.nlm.nih.gov/gene/BRCA2 |
FA |
db |
key |
2012-01 |
2017-12-29 |
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Fanconi 貧血症 |
is more common among people of Ashkenazi Jewish descent, the Roma population of |
this condition may have bone marrow failure, physical abnormalities, organ |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Fanconi hypoplastic anemia |
GTR |
C0015625 |
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Spain, and black South Africans. |
defects, and an increased risk of certain cancers. |
xr |
X-linked recessive |
BRIP1 |
https://ghr.nlm.nih.gov/gene/BRIP1 |
Fanconi pancytopenia |
db |
key |
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html:p |
The major function of bone marrow is to produce new blood cells. These include |
related-gene |
gene-symbol |
ghr-page |
Fanconi panmyelopathy |
GTR |
C1835817 |
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red blood cells, which carry oxygen to the body's tissues; white blood cells, |
FANCA |
https://ghr.nlm.nih.gov/gene/FANCA |
db |
key |
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which fight infections; and platelets, which are necessary for normal blood |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1836860 |
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clotting. Approximately 90 percent of people with Fanconi anemia have impaired |
FANCB |
https://ghr.nlm.nih.gov/gene/FANCB |
db |
key |
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bone marrow function that leads to a decrease in the production of all blood |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1836861 |
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cells (aplastic anemia 再生不良性貧血). Affected individuals experience extreme tiredness |
FANCC |
https://ghr.nlm.nih.gov/gene/FANCC |
db |
key |
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(fatigue) due to low numbers of red blood cells (anemia), frequent infections |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1838457 |
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due to low numbers of white blood cells (neutropenia), and clotting problems due |
FANCD2 |
https://ghr.nlm.nih.gov/gene/FANCD2 |
db |
key |
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to low numbers of platelets (thrombocytopenia). People with Fanconi anemia may |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1845292 |
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also develop myelodysplastic syndrome, a condition in which immature blood cells |
FANCE |
https://ghr.nlm.nih.gov/gene/FANCE |
db |
key |
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fail to develop normally. |
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|
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3150653 |
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html:p |
More than half of people with Fanconi anemia have physical abnormalities. These |
FANCF |
https://ghr.nlm.nih.gov/gene/FANCF |
db |
key |
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abnormalities can involve irregular skin coloring such as unusually |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3160738 |
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light-colored skin (hypopigmentation) or café-au-lait spots, which are flat |
FANCG |
https://ghr.nlm.nih.gov/gene/FANCG |
db |
key |
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patches on the skin that are darker than the surrounding area. Other possible |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3160739 |
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symptoms of Fanconi anemia include malformed thumbs or forearms and other |
FANCI |
https://ghr.nlm.nih.gov/gene/FANCI |
db |
key |
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skeletal problems including short stature; malformed or absent kidneys and other |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3468041 |
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defects of the urinary tract; gastrointestinal abnormalities; heart defects; |
FANCL |
https://ghr.nlm.nih.gov/gene/FANCL |
db |
key |
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eye abnormalities such as small or abnormally shaped eyes; and malformed ears |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3469521 |
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and hearing loss. People with this condition may have abnormal genitalia or |
FANCM |
https://ghr.nlm.nih.gov/gene/FANCM |
db |
key |
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malformations of the reproductive system. As a result, most affected males and |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3469526 |
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about half of affected females cannot have biological children (are infertile). |
PALB2 |
https://ghr.nlm.nih.gov/gene/PALB2 |
db |
key |
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Additional signs and symptoms can include abnormalities of the brain and spinal |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3469527 |
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cord (central nervous system), including increased fluid in the center of the |
RAD51C |
https://ghr.nlm.nih.gov/gene/RAD51C |
db |
key |
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brain (hydrocephalus) or an unusually small head size (microcephaly). |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3469528 |
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|
html:p |
Individuals with Fanconi anemia have an increased risk of developing a cancer of |
SLX4 |
https://ghr.nlm.nih.gov/gene/SLX4 |
db |
key |
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blood-forming cells in the bone marrow called acute myeloid leukemia (AML) or |
GTR |
C3469542 |
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tumors of the head, neck, skin, gastrointestinal system, or genital tract. The |
db |
key |
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likelihood of developing one of these cancers in people with Fanconi anemia is |
GTR |
CN068499 |
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between 10 and 30 percent. |
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db |
key |
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GeneReviews |
fa |
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db |
key |
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ICD-10-CM |
D61.09 |
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db |
key |
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MeSH |
D005199 |
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db |
key |
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|
OMIM |
227645 |
|
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db |
key |
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|
OMIM |
227646 |
|
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db |
key |
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|
OMIM |
227650 |
|
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|
db |
key |
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|
|
OMIM |
300514 |
|
|
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db |
key |
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|
OMIM |
600901 |
|
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db |
key |
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|
OMIM |
603467 |
|
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db |
key |
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|
OMIM |
605724 |
|
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db |
key |
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|
OMIM |
609053 |
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db |
key |
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|
OMIM |
609054 |
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db |
key |
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|
OMIM |
609644 |
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db |
key |
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|
OMIM |
610832 |
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db |
key |
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OMIM |
613390 |
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db |
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OMIM |
613951 |
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db |
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OMIM |
614082 |
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db |
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OMIM |
614083 |
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db |
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Orphanet |
84 |
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db |
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related-gene-list |
|
SNOMED CT |
30575002 |
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Farber lipogranulomatosis |
https://ghr.nlm.nih.gov/condition/farber-lipogranulomatosis |
Farber lipogranulomatosis is a rare disorder. About 80 cases have been |
html:p |
Farber lipogranulomatosis is a rare inherited condition involving the breakdown |
ar |
autosomal recessive |
ASAH1 |
https://ghr.nlm.nih.gov/gene/ASAH1 |
AC deficiency |
db |
key |
2013-12 |
2017-12-29 |
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法伯氏脂肪肉芽腫病 |
reported worldwide. |
and use of fats in the body (lipid metabolism). In affected individuals, lipids |
acid ceramidase deficiency |
GTR |
C0268255 |
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accumulate abnormally in cells and tissues throughout the body, particularly |
acylsphingosine deacylase deficiency |
db |
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around the joints. |
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ceramidase deficiency |
ICD-10-CM |
E75.29 |
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html:p |
Three classic signs occur in Farber lipogranulomatosis: a hoarse voice or a weak |
Farber disease |
db |
key |
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cry, small lumps of fat under the skin and in other tissues (lipogranulomas), |
Farber-Uzman syndrome |
MeSH |
D055577 |
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and swollen and painful joints. Affected individuals may also have difficulty |
Farber's disease |
db |
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breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental |
Farber's lipogranulomatosis |
OMIM |
228000 |
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delay. |
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html:p |
Researchers have described seven types of Farber lipogranulomatosis based on |
Orphanet |
333 |
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their characteristic features. |
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db |
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html:p |
Type 1 is the most common, or classical, form of this condition and is |
|
SNOMED CT |
79935000 |
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associated with the classic signs of voice, skin, and joint problems that begin |
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a few months after birth. Developmental delay and lung disease also commonly |
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occur. Infants born with type 1 Farber lipogranulomatosis usually survive only |
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into early childhood. |
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html:p |
Types 2 and 3 generally have less severe signs and symptoms than the other |
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types. Affected individuals have the three classic signs and usually do not have |
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developmental delay. Children with these types of Farber lipogranulomatosis |
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typically live into mid- to late childhood. |
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html:p |
Types 4 and 5 are associated with severe neurological problems. Type 4 usually |
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causes life-threatening health problems beginning in infancy due to massive |
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lipid deposits in the liver, spleen, lungs, and immune system tissues. Children |
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with this type typically do not survive past their first year of life. Type 5 is |
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characterized by progressive decline in brain and spinal cord (central nervous |
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system) function, which causes paralysis of the arms and legs (quadriplegia), |
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seizures, loss of speech, involuntary muscle jerks (myoclonus), and |
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developmental delay. Children with type 5 Farber lipogranulomatosis survive into |
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early childhood. |
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html:p |
Types 6 and 7 are very rare, and affected individuals have other associated |
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disorders in addition to Farber lipogranulomatosis. |
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related-gene-list |
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Fatty acid hydroxylase-associated neurodegeneration |
https://ghr.nlm.nih.gov/condition/fatty-acid-hydroxylase-associated-neurodegener |
FAHN is a rare disorder; only a few dozen cases have been reported. |
html:p |
Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a progressive |
ar |
autosomal recessive |
FA2H |
https://ghr.nlm.nih.gov/gene/FA2H |
dysmyelinating leukodystrophy and spastic paraparesis |
db |
key |
2015-08 |
2017-12-29 |
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家族性脂肪酸羟化酶關聯神经退行 |
ation |
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disorder of the nervous system (neurodegeneration) characterized by problems |
FAHN |
GTR |
C3668943 |
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with movement and vision that begin during childhood or adolescence. |
spastic paraplegia 35 |
db |
key |
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html:p |
Changes in the way a person walks (gait) and frequent falls are usually the |
GeneReviews |
fahn |
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first noticeable signs of FAHN. Affected individuals gradually develop extreme |
db |
key |
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muscle stiffness (spasticity) and exaggerated reflexes. They typically have |
MeSH |
D020271 |
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involuntary muscle cramping (dystonia), problems with coordination and balance |
db |
key |
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(ataxia), or both. The movement problems worsen over time, and some people with |
OMIM |
612319 |
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this condition eventually require wheelchair assistance. |
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db |
key |
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html:p |
People with FAHN often develop vision problems, which occur due to deterioration |
Orphanet |
385 |
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(atrophy) of the nerves that carry information from the eyes to the brain (the |
db |
key |
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optic nerves) and difficulties with the muscles that control eye movement. |
SNOMED CT |
702419001 |
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Affected individuals may have a loss of sharp vision (reduced visual acuity), |
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decreased field of vision, impaired color perception, eyes that do not look in |
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the same direction (strabismus), rapid involuntary eye movements (nystagmus), or |
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difficulty moving the eyes intentionally (supranuclear gaze palsy). |
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Speech impairment (dysarthria) also occurs in FAHN, and severely affected |
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individuals may lose the ability to speak. People with this disorder may also |
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have difficulty chewing or swallowing (dysphagia). In severe cases, they may |
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develop malnutrition and require a feeding tube. The swallowing difficulties |
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can lead to a bacterial lung infection called aspiration pneumonia, which can be |
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life-threatening. As the disorder progresses, some affected individuals |
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experience seizures and a decline in intellectual function. |
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Magnetic resonance imaging (MRI) of the brain in people with FAHN shows signs of |
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iron accumulation, especially in an area of the brain called the globus |
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pallidus, which is involved in regulating movement. Similar patterns of iron |
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accumulation are seen in certain other neurological disorders such as infantile |
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neuroaxonal dystrophy and pantothenate kinase-associated neurodegeneration. All |
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these conditions belong to a class of disorders called neurodegeneration with |
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brain iron accumulation (NBIA). |
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inheritance-pattern-list |
related-gene-list |
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FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome |
https://ghr.nlm.nih.gov/condition/fbxl4-related-encephalomyopathic-mitochondrial |
FBXL4-related encephalomyopathic mtDNA depletion syndrome is a rare |
html:p |
FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome is a severe condition that begins |
ar |
autosomal recessive |
ghr-page |
FBXL4 deficiency |
db-key |
db |
key |
2017-05 |
2017-12-29 |
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-dna-depletion-syndrome |
condition; the exact prevalence is unknown. At least 50 affected individuals |
in infancy and affects multiple body systems. It is primarily associated with brain dysfunction |
https://ghr.nlm.nih.gov/gene/FBXL4 |
FBXL4-related early onset mitochondrial encephalopathy |
GTR |
C3809592 |
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have been described in the medical literature. |
combined with muscle weakness (encephalomyopathy). |
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mitochondrial DNA depletion syndrome 13, encephalomyopathic type |
db-key |
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MTDPS13 |
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GeneReviews |
fbxl4-mtddepl |
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html:p |
Infants with FBXL4-related encephalomyopathic mtDNA depletion syndrome have weak muscle tone |
db-key |
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(hypotonia) and a failure to grow or gain weight at the expected rate (failure to thrive). Children with |
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MeSH |
D017237 |
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FBXL4-related encephalomyopathic mtDNA depletion syndrome have delayed development of mental |
db-key |
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and motor skills and severely impaired speech development. Many affected individuals have seizures, |
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OMIM |
615471 |
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movement abnormalities, and an unusually small head size (microcephaly) with a loss of nerve cells |
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in the brain (cerebral atrophy). |
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html:p |
All individuals with FBXL4-related encephalomyopathic mtDNA depletion syndrome have a buildup of |
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a chemical called lactic acid in the body (lactic acidosis), and about half of individuals have an accumulation |
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of ammonia in the blood. Buildup of these substances can be life-threatening. Many affected individuals also |
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have heart abnormalities, such as congenital heart defects or heart rhythm abnormalities (arrhythmias). In |
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addition, individuals with this condition can have vision problems, hearing loss, liver abnormalities (hepatopathy), |
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and immune deficiency due to a decrease in white blood cells. Many children with FBXL4-related |
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encephalomyopathic mtDNA depletion syndrome have distinctive facial features that can include thick eyebrows; |
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outside corners of the eyes that point upward (upslanting palpebral fissures); a broad nasal bridge and tip; and |
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a long, smooth space between the upper lip and nose (philtrum). |
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html:p |
Because the encephalomyopathy and other signs and symptoms are so severe, people with FBXL4-related encephalomyopathic |
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mtDNA depletion syndrome usually live only into early childhood. |
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related-gene-list |
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Feingold syndrome |
https://ghr.nlm.nih.gov/condition/feingold-syndrome |
Feingold syndrome appears to be a rare condition, although its exact |
html:p |
Feingold syndrome is a disorder that affects many parts of the body. The signs |
ad |
autosomal dominant |
MYCN |
https://ghr.nlm.nih.gov/gene/MYCN |
microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome |
db |
key |
2009-09 |
2017-12-29 |
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Feingold氏症候群第一型 |
prevalence is unknown. |
and symptoms of this condition vary among affected individuals, even among |
microcephaly-oculo-digito-esophageal-duodenal (MODED) syndrome |
GTR |
C0796068 |
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members of the same family. |
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oculo-digito-esophagoduodental (ODED) syndrome |
db |
key |
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html:p |
Individuals with Feingold syndrome have characteristic abnormalities of their |
GTR |
C3280489 |
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fingers and toes. Almost all people with this condition have a specific hand |
db |
key |
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abnormality called brachymesophalangy, which refers to shortening of the second |
GTR |
CN199181 |
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and fifth fingers. Other common abnormalities include fifth fingers that curve |
db |
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inward (clinodactyly), underdeveloped thumbs (thumb hypoplasia), and fusion |
GeneReviews |
feingold |
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(syndactyly) of the second and third toes or the fourth and fifth toes. |
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db |
key |
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html:p |
People with Feingold syndrome are frequently born with a blockage in part of |
MeSH |
D030342 |
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their digestive system called gastrointestinal atresia. In most cases, the |
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db |
key |
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blockage occurs in the esophagus (esophageal atresia) or in part of the small |
OMIM |
164280 |
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intestine (duodenal atresia). Additional common features of Feingold syndrome |
db |
key |
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include an unusually small head size (microcephaly), a small jaw (micrognathia), |
OMIM |
614326 |
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a narrow opening of the eyelids (short palpebral fissures), and mild to |
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db |
key |
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moderate learning disability. Less often, affected individuals have hearing |
Orphanet |
1305 |
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loss, impaired growth, and kidney and heart abnormalities. |
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key |
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related-gene-list |
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SNOMED CT |
702431004 |
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FG syndrome |
https://ghr.nlm.nih.gov/condition/fg-syndrome |
The prevalence of FG syndrome is unknown, although several hundred cases |
html:p |
FG syndrome is a genetic condition that affects many parts of the body and |
xr |
X-linked recessive |
CASK |
https://ghr.nlm.nih.gov/gene/CASK |
FGS |
db |
key |
2012-12 |
2017-12-29 |
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FG綜合徵 |
have been reported worldwide. Researchers suspect that FG syndrome may be |
occurs almost exclusively in males. "FG" represents the surname initials of the |
related-gene |
gene-symbol |
ghr-page |
FGS1 |
GTR |
C0220769 |
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overdiagnosed because many of its signs and symptoms are also seen with other |
first family diagnosed with the disorder. |
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FLNA |
https://ghr.nlm.nih.gov/gene/FLNA |
Keller syndrome |
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key |
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disorders. |
html:p |
FG syndrome affects intelligence and behavior. Almost everyone with the |
related-gene |
gene-symbol |
ghr-page |
mental retardation, large head, imperforate anus, congenital hypotonia, and |
GTR |
C1845119 |
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condition has intellectual disability, which ranges from mild to severe. |
MED12 |
https://ghr.nlm.nih.gov/gene/MED12 |
partial agenesis of the corpus callosum |
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Affected individuals tend to be friendly, inquisitive, and hyperactive, with a |
related-gene |
gene-symbol |
ghr-page |
OKS |
GTR |
C1845546 |
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short attention span. Compared to people with other forms of intellectual |
UPF3B |
https://ghr.nlm.nih.gov/gene/UPF3B |
Opitz-Kaveggia syndrome |
db |
key |
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disability, their socialization and daily living skills are strong, while verbal |
GTR |
C1845567 |
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communication and language skills tend to be weaker. |
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html:p |
The physical features of FG syndrome include weak muscle tone (hypotonia), broad |
GTR |
C1845902 |
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thumbs, and wide first (big) toes. Abnormalities of the tissue connecting the |
db |
key |
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left and right halves of the brain (the corpus callosum) are also common. Most |
GeneReviews |
fg |
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affected individuals have constipation, and many have abnormalities of the anus |
db |
key |
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such as an obstruction of the anal opening (imperforate anus). People with FG |
MeSH |
D000015 |
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syndrome also tend to have a distinctive facial appearance including small, |
db |
key |
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underdeveloped ears; a tall, prominent forehead; and outside corners of the eyes |
MeSH |
D038901 |
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that point downward (down-slanting palpebral fissures). |
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db |
key |
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html:p |
Additional features seen in some people with FG syndrome include widely set eyes |
OMIM |
300321 |
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(hypertelorism), an upswept frontal hairline, and a large head compared to body |
db |
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size (relative macrocephaly). Other health problems have also been reported, |
OMIM |
300406 |
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including heart defects, seizures, undescended testes (cryptorchidism) in males, |
db |
key |
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and a soft out-pouching in the lower abdomen (an inguinal hernia). |
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OMIM |
300422 |
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db |
key |
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OMIM |
300581 |
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db |
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OMIM |
305450 |
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Orphanet |
323 |
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db |
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related-gene-list |
|
SNOMED CT |
49984004 |
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Fibrochondrogenesis |
https://ghr.nlm.nih.gov/condition/fibrochondrogenesis |
Fibrochondrogenesis appears to be a rare disorder. About 20 affected |
html:p |
Fibrochondrogenesis is a very severe disorder of bone growth. Affected infants |
ad |
autosomal dominant |
COL11A1 |
https://ghr.nlm.nih.gov/gene/COL11A1 |
FBCG1 |
db |
key |
2016-04 |
2017-12-29 |
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纤维软骨增生 |
individuals have been described in the medical literature. |
have a very narrow chest, which prevents the lungs from developing normally. |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
FBCG2 |
GTR |
C0265282 |
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Most infants with this condition are stillborn or die shortly after birth from |
ar |
autosomal recessive |
COL11A2 |
https://ghr.nlm.nih.gov/gene/COL11A2 |
fibrochondrogenesis-1 |
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respiratory failure. However, some affected individuals have lived into |
fibrochondrogenesis-2 |
GTR |
C3281128 |
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childhood. |
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html:p |
Fibrochondrogenesis is characterized by short stature (dwarfism) and other |
MeSH |
D000015 |
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skeletal abnormalities. Affected individuals have shortened long bones in the |
db |
key |
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arms and legs that are unusually wide at the ends (described as |
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MeSH |
D004392 |
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dumbbell-shaped). People with this condition also have a narrow chest with |
db |
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short, wide ribs and a round and prominent abdomen. The bones of the spine |
OMIM |
228520 |
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(vertebrae) are flattened (platyspondyly) and have a characteristic pinched or |
db |
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pear shape that is noticeable on x-rays. Other skeletal abnormalities associated |
OMIM |
614524 |
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with fibrochondrogenesis include abnormal curvature of the spine and |
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underdeveloped hip (pelvic) bones. |
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Orphanet |
2021 |
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html:p |
People with fibrochondrogenesis also have distinctive facial features. These |
db |
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include prominent eyes, low-set ears, a small mouth with a long upper lip, and a |
SNOMED CT |
17144009 |
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small chin (micrognathia). Affected individuals have a relatively |
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flat-appearing midface, particularly a small nose with a flat nasal bridge and |
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nostrils that open to the front rather than downward (anteverted nares). Vision |
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problems, including severe nearsightedness (high myopia) and clouding of the |
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lens of the eye (cataract), are common in those who survive infancy. Most |
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affected individuals also have sensorineural hearing loss, which is caused by |
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abnormalities of the inner ear. |
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related-gene-list |
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Fibrodysplasia ossificans progressiva (FOP) |
https://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva |
Fibrodysplasia ossificans progressiva is a very rare disorder, believed to |
html:p |
Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle tissue |
ad |
autosomal dominant |
ACVR1 |
https://ghr.nlm.nih.gov/gene/ACVR1 |
Myositis Ossificans |
db |
key |
2007-08 |
2017-12-29 |
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Myositis ossificans progressiva |
occur in approximately 1 in 2 million people worldwide. Several hundred cases |
and connective tissue such as tendons and ligaments are gradually replaced by |
Myositis ossificans progressiva |
GTR |
C0016037 |
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进行性骨化性肌炎 |
have been reported. |
bone (ossified), forming bone outside the skeleton (extra-skeletal or |
Progressive myositis ossificans |
db |
key |
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進行性骨化性肌炎 (珊瑚人) |
heterotopic bone) that constrains movement. This process generally becomes |
progressive ossifying myositis |
ICD-10-CM |
M61.1 |
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進行性肌肉骨化症 |
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noticeable in early childhood, starting with the neck and shoulders and |
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proceeding down the body and into the limbs. |
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ICD-10-CM |
M61.10 |
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html:p |
Extra-skeletal bone formation causes progressive loss of mobility as the joints |
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become affected. Inability to fully open the mouth may cause difficulty in |
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ICD-10-CM |
M61.11 |
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speaking and eating. Over time, people with this disorder may experience |
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malnutrition due to their eating problems. They may also have breathing |
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ICD-10-CM |
M61.12 |
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difficulties as a result of extra bone formation around the rib cage that |
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restricts expansion of the lungs. |
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ICD-10-CM |
M61.13 |
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html:p |
Any trauma to the muscles of an individual with fibrodysplasia ossificans |
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progressiva, such as a fall or invasive medical procedures, may trigger episodes |
ICD-10-CM |
M61.14 |
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of muscle swelling and inflammation (myositis) followed by more rapid |
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ossification in the injured area. Flare-ups may also be caused by viral |
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ICD-10-CM |
M61.15 |
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illnesses such as influenza. |
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html:p |
People with fibrodysplasia ossificans progressiva are generally born with |
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ICD-10-CM |
M61.16 |
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malformed big toes. This abnormality of the big toes is a characteristic feature |
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that helps to distinguish this disorder from other bone and muscle problems. |
ICD-10-CM |
M61.17 |
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Affected individuals may also have short thumbs and other skeletal |
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abnormalities. |
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ICD-10-CM |
M61.18 |
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ICD-10-CM |
M61.19 |
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ICD-10-CM |
M61.111 |
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ICD-10-CM |
M61.112 |
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ICD-10-CM |
M61.119 |
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ICD-10-CM |
M61.121 |
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ICD-10-CM |
M61.122 |
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ICD-10-CM |
M61.129 |
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ICD-10-CM |
M61.131 |
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ICD-10-CM |
M61.132 |
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ICD-10-CM |
M61.139 |
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ICD-10-CM |
M61.141 |
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ICD-10-CM |
M61.142 |
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ICD-10-CM |
M61.143 |
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ICD-10-CM |
M61.144 |
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ICD-10-CM |
M61.145 |
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ICD-10-CM |
M61.146 |
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ICD-10-CM |
M61.151 |
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ICD-10-CM |
M61.152 |
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ICD-10-CM |
M61.159 |
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ICD-10-CM |
M61.161 |
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db |
key |
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ICD-10-CM |
M61.162 |
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db |
key |
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ICD-10-CM |
M61.169 |
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db |
key |
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ICD-10-CM |
M61.171 |
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db |
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ICD-10-CM |
M61.172 |
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db |
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ICD-10-CM |
M61.173 |
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db |
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ICD-10-CM |
M61.174 |
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db |
key |
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ICD-10-CM |
M61.175 |
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db |
key |
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ICD-10-CM |
M61.176 |
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db |
key |
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ICD-10-CM |
M61.177 |
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db |
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ICD-10-CM |
M61.178 |
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db |
key |
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ICD-10-CM |
M61.179 |
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db |
key |
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MeSH |
D009221 |
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db |
key |
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OMIM |
135100 |
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db |
key |
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Orphanet |
337 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
82725007 |
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Fibronectin glomerulopathy |
https://ghr.nlm.nih.gov/condition/fibronectin-glomerulopathy |
Fibronectin glomerulopathy is likely a rare condition, although its |
html:p |
Fibronectin glomerulopathy is a kidney disease that usually develops between |
ad |
autosomal dominant |
FN1 |
https://ghr.nlm.nih.gov/gene/FN1 |
familial glomerular nephritis with fibronectin deposits |
db |
key |
2015-04 |
2017-12-29 |
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纤维粘连蛋白肾小球病变 |
prevalence is unknown. At least 45 cases have been described in the scientific |
early and mid-adulthood but can occur at any age. It eventually leads to |
familial lobular glomerulopathy |
GTR |
C1866075 |
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(Renal) |
|
literature. |
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irreversible kidney failure (end-stage renal disease). |
|
GFND |
db |
key |
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html:p |
Individuals with fibronectin glomerulopathy usually have blood and excess |
glomerulopathy with fibronectin deposits |
ICD-10-CM |
N07.5 |
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protein in their urine (hematuria and proteinuria, respectively). They also have |
glomerulopathy with giant fibrillar deposits |
db |
key |
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high blood pressure (hypertension). Some affected individuals develop renal |
MeSH |
D015432 |
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tubular acidosis, which occurs when the kidneys are unable to remove enough acid |
db |
key |
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from the body and the blood becomes too acidic. |
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OMIM |
137950 |
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html:p |
The kidneys of people with fibronectin glomerulopathy have large deposits of the |
db |
key |
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protein fibronectin-1 in structures called glomeruli. These structures are |
|
OMIM |
601894 |
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clusters of tiny blood vessels in the kidneys that filter waste products from |
db |
key |
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blood. The waste products are then released in urine. The fibronectin-1 deposits |
Orphanet |
84090 |
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impair the glomeruli's filtration ability. |
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db |
key |
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html:p |
Fifteen to 20 years following the appearance of signs and symptoms, individuals |
SNOMED CT |
236535001 |
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with fibronectin glomerulopathy often develop end-stage renal disease. Affected |
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individuals may receive treatment in the form of a kidney transplant; in some |
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cases, fibronectin glomerulopathy comes back (recurs) following transplantation. |
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related-gene-list |
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Fish-eye disease |
https://ghr.nlm.nih.gov/condition/fish-eye-disease |
Fish-eye disease is a rare disorder. Approximately 30 cases have been |
html:p |
Fish-eye disease, also called partial LCAT deficiency, is a disorder that causes |
ar |
autosomal recessive |
LCAT |
https://ghr.nlm.nih.gov/gene/LCAT |
alpha-LCAT deficiency |
db |
key |
2013-08 |
2017-12-29 |
|
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|
魚眼病 |
|
reported in the medical literature. |
the clear front surface of the eyes (the corneas) to gradually become cloudy. |
alpha-lecithin:cholesterol acyltransferase deficiency |
GTR |
C0342895 |
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The cloudiness, which generally first appears in adolescence or early adulthood, |
dyslipoproteinemic corneal dystrophy |
db |
key |
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consists of small grayish dots of cholesterol (opacities) distributed across |
FED |
MeSH |
D007863 |
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the corneas. Cholesterol is a waxy, fat-like substance that is produced in the |
LCATA deficiency |
db |
key |
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body and obtained from foods that come from animals; it aids in many functions |
partial LCAT deficiency |
OMIM |
136120 |
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of the body but can become harmful in excessive amounts. As fish-eye disease |
db |
key |
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progresses, the corneal cloudiness worsens and can lead to severely impaired |
Orphanet |
79292 |
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vision. |
|
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db |
key |
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related-gene-list |
|
SNOMED CT |
238092004 |
|
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Floating-Harbor syndrome |
https://ghr.nlm.nih.gov/condition/floating-harbor-syndrome |
Floating-Harbor syndrome is a rare disorder; only about 50 cases have been |
html:p |
Floating-Harbor syndrome is a disorder involving short stature, slowing of the |
ad |
autosomal dominant |
SRCAP |
https://ghr.nlm.nih.gov/gene/SRCAP |
FHS |
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2012-12 |
2017-12-29 |
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reported in the medical literature. |
mineralization of the bones (delayed bone age), delayed speech development, and |
FLHS |
GTR |
C0729582 |
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characteristic facial features. The condition is named for the hospitals where |
Leisti-Hollander-Rimoin syndrome |
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it was first described, the Boston Floating Hospital and Harbor General Hospital |
Pelletier-Leisti syndrome |
GeneReviews |
fhs |
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in Torrance, California. |
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html:p |
Growth deficiency in people with Floating-Harbor syndrome generally becomes |
MeSH |
D000015 |
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apparent in the first year of life, and affected individuals are usually among |
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the shortest 5 percent of their age group. Bone age is delayed in early |
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OMIM |
136140 |
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childhood; for example, an affected 3-year-old child may have bones more typical |
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of a child of 2. However, bone age is usually normal by age 6 to 12. |
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Orphanet |
2044 |
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html:p |
Delay in speech development (expressive language delay) may be severe in |
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Floating-Harbor syndrome, and language impairment can lead to problems in verbal |
SNOMED CT |
312214005 |
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communication. Most affected individuals also have mild intellectual |
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disability. Their development of motor skills, such as sitting and crawling, is |
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similar to that of other children their age. |
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html:p |
Typical facial features in people with Floating-Harbor syndrome include a |
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triangular face; a low hairline; deep-set eyes; long eyelashes; a large, |
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distinctive nose with a low-hanging separation (overhanging columella) between |
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large nostrils; a shortened distance between the nose and upper lip (a short |
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philtrum); and thin lips. As affected children grow and mature, the nose becomes |
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more prominent. |
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html:p |
Additional features that have occurred in some affected individuals include |
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short fingers and toes (brachydactyly); widened and rounded tips of the fingers |
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(clubbing); curved pinky fingers (fifth finger clinodactyly); an unusually |
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high-pitched voice; and, in males, undescended testes (cryptorchidism). |
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related-gene-list |
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Focal dermal hypoplasia |
https://ghr.nlm.nih.gov/condition/focal-dermal-hypoplasia |
Focal dermal hypoplasia appears to be a rare condition, although its exact |
html:p |
Focal dermal hypoplasia is a genetic disorder that primarily affects the skin, |
xd |
X-linked dominant |
PORCN |
https://ghr.nlm.nih.gov/gene/PORCN |
Goltz-Gorlin syndrome |
db |
key |
2014-07 |
2017-12-29 |
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侷限性真皮發育不良 |
prevalence is unknown. |
skeleton, eyes, and face. About 90 percent of affected individuals are female. |
Goltz syndrome |
GTR |
C0016395 |
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Goltz Syndrome |
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Males usually have milder signs and symptoms than females. Although intelligence |
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is typically unaffected, some individuals have intellectual disability. |
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GeneReviews |
focal-dh |
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html:p |
People with focal dermal hypoplasia have skin abnormalities present from birth, |
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such as streaks of very thin skin (dermal hypoplasia), yellowish-pink nodules of |
MeSH |
D005489 |
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fat under the skin, areas where the top layers of skin are absent (cutis |
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aplasia), small clusters of veins on the surface of the skin (telangiectases), |
OMIM |
305600 |
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and streaks of slightly darker or lighter skin. These skin changes may cause |
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pain, itching, irritation, or lead to skin infections. Wart-like growths called |
|
Orphanet |
2092 |
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papillomas are usually not present at birth but develop with age. Papillomas |
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typically form around the nostrils, lips, anus, and female genitalia. They may |
SNOMED CT |
205573006 |
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also be present in the throat, specifically in the esophagus or larynx, and can |
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cause problems with swallowing, breathing, or sleeping. Papillomas can usually |
SNOMED CT |
2298005 |
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be surgically removed if necessary. Affected individuals may have small, ridged |
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fingernails and toenails. Hair on the scalp can be sparse and brittle or absent. |
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html:p |
Many individuals with focal dermal hypoplasia have hand and foot abnormalities, |
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including missing fingers or toes (oligodactyly), webbed or fused fingers or |
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toes (syndactyly), and a deep split in the hands or feet with missing fingers or |
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toes and fusion of the remaining digits (ectrodactyly). X-rays can show streaks |
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of altered bone density, called osteopathia striata, that do not cause any |
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symptoms in people with focal dermal hypoplasia. |
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html:p |
Eye abnormalities are common in individuals with focal dermal hypoplasia, |
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including small eyes (microphthalmia), absent or severely underdeveloped eyes |
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(anophthalmia), and problems with the tear ducts. Affected individuals may also |
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have incomplete development of the light-sensitive tissue at the back of the eye |
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(retina) or the nerve that relays visual information from the eye to the brain |
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(optic nerve). This abnormal development of the retina and optic nerve can |
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result in a gap or split in these structures, which is called a coloboma. Some |
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of these eye abnormalities do not impair vision, while others can lead to low |
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vision or blindness. |
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html:p |
People with focal dermal hypoplasia may have distinctive facial features. |
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Affected individuals often have a pointed chin, small ears, notched nostrils, |
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and a slight difference in the size and shape of the right and left sides of the |
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face (facial asymmetry). These facial characteristics are typically very |
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subtle. An opening in the lip (cleft lip) with or without an opening in the roof |
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of the mouth (cleft palate) may also be present. |
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html:p |
About half of individuals with focal dermal hypoplasia have abnormalities of |
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their teeth, especially the hard, white material that forms the protective outer |
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layer of each tooth (enamel). Less commonly, abnormalities of the kidneys and |
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gastrointestinal system are present. The kidneys may be fused together, which |
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predisposes affected individuals to kidney infections but does not typically |
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cause significant health problems. The main gastrointestinal abnormality that |
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occurs in people with focal dermal hypoplasia is an omphalocele, which is an |
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opening in the wall of the abdomen that allows the abdominal organs to protrude |
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through the navel. The signs and symptoms of focal dermal hypoplasia vary |
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widely, although almost all affected individuals have skin abnormalities. |
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inheritance-pattern-list |
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FOXG1 syndrome |
https://ghr.nlm.nih.gov/condition/foxg1-syndrome |
More than 100 cases of this rare condition have been reported. |
html:p |
FOXG1 syndrome is a condition characterized by impaired development and |
ad |
related-gene |
ghr-page |
synonym |
FOXG1-related disorder |
db-key |
db |
key |
2016-07 |
2017-12-29 |
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structural brain abnormalities. Affected infants are small at birth, and their heads |
https://ghr.nlm.nih.gov/gene/FOXG1 |
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GTR |
C3150705 |
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grow more slowly than normal, leading to an unusually small head size (microcephaly) |
related-chromosome |
ghr-page |
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db-key |
db |
key |
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by early childhood. The condition is associated with a particular pattern of brain |
https://ghr.nlm.nih.gov/chromosome/14 |
MeSH |
D020271 |
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malformations that includes a thin or underdeveloped connection between the right |
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db-key |
db |
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and left halves of the brain (a structure called the corpus callosum), reduced folds |
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OMIM |
613454 |
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and grooves (gyri) on the surface of the brain, and a smaller than usual amount |
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db-key |
db |
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of brain tissue known as white matter. |
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SNOMED CT |
702450004 |
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html:p |
FOXG1 syndrome affects most aspects of development, and children with the condition |
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typically have severe intellectual disability. Abnormal or involuntary movements, such as jerking |
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movements of the arms and legs and repeated hand motions, are common, and most affected children |
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do not learn to sit or walk without assistance. Babies and young children with FOXG1 syndrome |
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often have feeding problems, sleep disturbances, seizures, irritability, and excessive crying. The |
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condition is also characterized by limited communication and social interaction, including poor eye |
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contact and a near absence of speech and language skills. Because of these social impairments, |
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FOXG1 syndrome is classified as an autism spectrum disorder. |
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html:p |
FOXG1 syndrome was previously described as a congenital variant of Rett syndrome, which is a similar diso |
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rder of brain development. Both disorders are characterized by impaired development, intellectual |
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disability, and problems with communication and language. However, Rett syndrome is diagnosed |
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almost exclusively in females, while FOXG1 syndrome affects both males and females. Rett syndrome |
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also involves a period of apparently normal early development that does not occur in FOXG1 syndrome. |
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Because of these differences, physicians and researchers now usually consider FOXG1 syndrome |
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to be distinct from Rett syndrome. |
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inheritance-pattern-list |
related-gene-list |
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FOXP2-related speech and language disorder |
https://ghr.nlm.nih.gov/condition/foxp2-related-speech-and-language-disorder |
FOXP2-related speech and language disorder appears to be a relatively |
html:p |
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autosomal dominant |
FOXP2 |
synonym |
db-key |
db |
key |
2016-09 |
2017-12-29 |
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uncommon cause of problems with speech and language development. The total |
related-chromosome |
name |
synonym |
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GTR |
C0750927 |
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prevalence of childhood apraxia of speech is estimated to be 1 to 2 in 1,000 |
7 |
synonym |
db-key |
db |
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people, but it is unknown how many of those cases represent FOXP2-related speech |
synonym |
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GeneReviews |
foxp2-sl-dis |
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and language disorder. |
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synonym |
db-key |
db |
key |
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MeSH |
D001072 |
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db-key |
db |
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OMIM |
602081 |
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db-key |
db |
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Orphanet |
209908 |
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html:p |
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db-key |
db |
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SNOMED CT |
229703009 |
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related-gene-list |
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Fragile X-associated primary ovarian insufficiency |
https://ghr.nlm.nih.gov/condition/fragile-x-associated-primary-ovarian-insuffici |
An estimated 1 in 200 females has the genetic change that leads to FXPOI, |
html:p |
Fragile X-associated primary ovarian insufficiency (FXPOI) is a condition that |
xd |
X-linked dominant |
FMR1 |
https://ghr.nlm.nih.gov/gene/FMR1 |
FMR1-related primary ovarian insufficiency |
db |
key |
2012-08 |
2017-12-29 |
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脆性X相关原发性卵巢功能不全 |
ency |
although only about a quarter of them develop the condition. FXPOI accounts for |
affects women and is characterized by reduced function of the ovaries. The |
FXPOI |
GTR |
C2749126 |
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about 4 to 6 percent of all cases of primary ovarian insufficiency in women. |
ovaries are the female reproductive organs in which egg cells are produced. As a |
premature ovarian failure 1 |
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form of primary ovarian insufficiency, FXPOI can cause irregular menstrual |
X-linked hypergonadotropic ovarian failure |
GeneReviews |
fragilex |
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cycles, early menopause, an inability to have children (infertility), and |
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elevated levels of a hormone known as follicle stimulating hormone (FSH). FSH is |
MeSH |
D016649 |
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produced in both males and females and helps regulate the development of |
db |
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reproductive cells (eggs in females and sperm in males). In females, the level |
OMIM |
311360 |
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of FSH rises and falls, but overall it increases as a woman ages. In younger |
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women, elevated levels may indicate early menopause and fertility problems. |
SNOMED CT |
237788002 |
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html:p |
The severity of FXPOI is variable. The most severely affected women have overt |
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POI (formerly called premature ovarian failure). These women have irregular or |
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absent menstrual periods and elevated FSH levels before age 40. Overt POI often |
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causes infertility. Other women have occult POI; they have normal menstrual |
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periods but reduced fertility, and they may have elevated levels of FSH (in |
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which case, it is called biochemical POI). The reduction in ovarian function |
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caused by FXPOI results in low levels of the hormone estrogen, which leads to |
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many of the common signs and symptoms of menopause, such as hot flashes, |
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insomnia, and thinning of the bones (osteoporosis). Women with FXPOI undergo |
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menopause an average of 5 years earlier than women without the condition. |
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related-gene-list |
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Fragile X-associated tremor/ataxia syndrome |
https://ghr.nlm.nih.gov/condition/fragile-x-associated-tremor-ataxia-syndrome |
Studies show that approximately 1 in 450 males has the genetic change that |
html:p |
Fragile X-associated tremor/ataxia syndrome (FXTAS) is characterized by problems |
xd |
X-linked dominant |
FMR1 |
https://ghr.nlm.nih.gov/gene/FMR1 |
fragile X tremor/ataxia syndrome |
db |
key |
2012-08 |
2017-12-29 |
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脆性X相关顫抖/共濟失調綜合症 |
leads to FXTAS, although the condition occurs in only about 40 percent of them. |
with movement and thinking ability (cognition). FXTAS is a late-onset disorder, |
FXTAS |
GTR |
C1839780 |
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It is estimated that 1 in 3,000 men over age 50 is affected. Similarly, 1 in 200 |
usually occurring after age 50, and its signs and symptoms worsen with age. |
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females has the genetic change, but only an estimated 16 percent of them |
This condition affects males more frequently and severely than females. Affected |
GeneReviews |
fragilex |
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develop signs and symptoms of FXTAS. |
individuals have areas of damage in the part of the brain that controls |
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movement (the cerebellum) and in a type of brain tissue known as white matter, |
MeSH |
D002526 |
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which can be seen with magnetic resonance imaging (MRI). This damage leads to |
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the movement problems and other impairments associated with FXTAS. |
|
OMIM |
300623 |
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html:p |
The characteristic features of FXTAS are intention tremor, which is trembling or |
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shaking of a limb when trying to perform a voluntary movement such as reaching |
Orphanet |
93256 |
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for an object, and problems with coordination and balance (ataxia). Typically |
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intention tremors will develop first, followed a few years later by ataxia, |
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SNOMED CT |
448045004 |
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although not everyone with FXTAS has both features. Many affected individuals |
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develop other movement problems, such as a pattern of movement abnormalities |
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known as parkinsonism, which includes tremors when not moving (resting tremor), |
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rigidity, and unusually slow movement (bradykinesia). In addition, affected |
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individuals may have reduced sensation, numbness or tingling, pain, or muscle |
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weakness in the lower limbs. Some people with FXTAS experience problems with the |
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autonomic nervous system, which controls involuntary body functions, leading to |
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the inability to control the bladder or bowel. |
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html:p |
People with FXTAS commonly have cognitive disabilities. They may develop |
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short-term memory loss and loss of executive function, which is the ability to |
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plan and implement actions and develop problem-solving strategies. Loss of this |
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function impairs skills such as impulse control, self-monitoring, focusing |
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attention appropriately, and cognitive flexibility. Many people with FXTAS |
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experience anxiety, depression, moodiness, or irritability. |
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html:p |
Some women develop immune system disorders, such as hypothyroidism or |
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fibromyalgia, before the signs and symptoms of FXTAS appear. |
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related-gene-list |
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Fragile X syndrome (FRAXA) |
https://ghr.nlm.nih.gov/condition/fragile-x-syndrome |
Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 |
html:p |
Fragile X syndrome is a genetic condition that causes a range of developmental |
xd |
X-linked dominant |
FMR1 |
https://ghr.nlm.nih.gov/gene/FMR1 |
fra(X) syndrome |
db |
key |
2012-04 |
2017-12-29 |
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X染色體脆折症 |
females. |
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problems including learning disabilities and cognitive impairment. Usually, |
FRAXA syndrome |
GTR |
C0016667 |
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males are more severely affected by this disorder than females. |
FXS |
db |
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html:p |
Affected individuals usually have delayed development of speech and language by |
marker X syndrome |
GeneReviews |
fragilex |
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age 2. Most males with fragile X syndrome have mild to moderate intellectual |
Martin-Bell syndrome |
db |
key |
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disability, while about one-third of affected females are intellectually |
X-linked mental retardation and macroorchidism |
ICD-10-CM |
Q99.2 |
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disabled. Children with fragile X syndrome may also have anxiety and hyperactive |
db |
key |
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behavior such as fidgeting or impulsive actions. They may have attention |
MeSH |
D005600 |
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deficit disorder (ADD), which includes an impaired ability to maintain attention |
db |
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and difficulty focusing on specific tasks. About one-third of individuals with |
OMIM |
309550 |
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fragile X syndrome have features of autism spectrum disorders that affect |
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communication and social interaction. Seizures occur in about 15 percent of |
Orphanet |
908 |
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males and about 5 percent of females with fragile X syndrome. |
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html:p |
Most males and about half of females with fragile X syndrome have characteristic |
SNOMED CT |
613003 |
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physical features that become more apparent with age. These features include a |
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long and narrow face, large ears, a prominent jaw and forehead, unusually |
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flexible fingers, flat feet, and in males, enlarged testicles (macroorchidism) |
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after puberty. |
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related-gene-list |
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Fragile XE syndrome |
https://ghr.nlm.nih.gov/condition/fragile-xe-syndrome |
Fragile XE syndrome is estimated to affect 1 in 25,000 to 100,000 newborn |
html:p |
Fragile XE syndrome is a genetic disorder that impairs thinking ability and |
x |
X-linked |
|
AFF2 |
https://ghr.nlm.nih.gov/gene/AFF2 |
FRAXE intellectual deficit |
db |
key |
2014-01 |
2017-12-29 |
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males. Only a small number of affected females have been described in the |
cognitive functioning. Most affected individuals have mild intellectual |
FRAXE intellectual disability |
GTR |
C0751157 |
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medical literature. Because mildly affected individuals may never be diagnosed, |
disability. In some people with this condition, cognitive function is described |
FRAXE mental retardation syndrome |
db |
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it is thought that the condition may be more common than reported. |
as borderline, which means that it is below average but not low enough to be |
FRAXE syndrome |
MeSH |
D038901 |
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classified as an intellectual disability. Females are rarely diagnosed with |
mental retardation, X-linked, associated with fragile site FRAXE |
db |
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fragile XE syndrome, likely because the signs and symptoms are so mild that the |
mental retardation, X-linked, FRAXE type |
OMIM |
309548 |
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individuals function normally. |
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html:p |
Learning disabilities are the most common sign of impaired cognitive function in |
Orphanet |
100973 |
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people with fragile XE syndrome. The learning disabilities are likely a result |
db |
key |
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of communication and behavioral problems, including delayed speech, poor writing |
SNOMED CT |
254288000 |
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skills, hyperactivity, and a short attention span. Some affected individuals |
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display autistic behaviors, such as hand flapping, repetitive behaviors, and |
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intense interest in a particular subject. Unlike some other forms of |
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intellectual disability, cognitive functioning remains steady and does not |
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decline with age in fragile XE syndrome. |
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related-gene-list |
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Fraser syndrome |
https://ghr.nlm.nih.gov/condition/fraser-syndrome |
Fraser syndrome affects an estimated 1 in 200,000 newborns. The condition |
html:p |
Fraser syndrome is a rare disorder that affects development starting before |
ar |
autosomal recessive |
FRAS1 |
https://ghr.nlm.nih.gov/gene/FRAS1 |
cryptophthalmos syndactyly syndrome |
db |
key |
2014-06 |
2017-12-29 |
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弗雷澤綜合症 |
occurs in approximately 1 in 10,000 fetuses that do not survive to birth. |
birth. Characteristic features of this condition include eyes that are |
related-gene |
gene-symbol |
ghr-page |
cryptophthalmos syndrome |
GTR |
C0265233 |
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completely covered by skin and usually malformed (cryptophthalmos), fusion of |
FREM2 |
https://ghr.nlm.nih.gov/gene/FREM2 |
cryptophthalmos with other malformations |
db |
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the skin between the fingers and toes (cutaneous syndactyly), and abnormalities |
related-gene |
gene-symbol |
ghr-page |
Fraser-Francois syndrome |
MeSH |
D058497 |
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of the genitalia and the urinary tract (genitourinary anomalies). Other tissues |
GRIP1 |
https://ghr.nlm.nih.gov/gene/GRIP1 |
Fraser's syndrome |
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and organs can also be affected. Depending on the severity of the signs and |
Meyer-Schwickerath syndrome |
OMIM |
219000 |
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symptoms, Fraser syndrome can be fatal before or shortly after birth; less |
Ullrich-Feichtiger syndrome |
db |
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severely affected individuals can live into childhood or adulthood. |
|
Orphanet |
2052 |
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html:p |
Cryptophthalmos is the most common abnormality in people with Fraser syndrome. |
db |
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Both eyes are usually completely covered by skin, but in some cases, only one |
SNOMED CT |
204102004 |
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eye is covered or one or both eyes are partially covered. In cryptophthalmos, |
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the eyes can also be malformed; for example, the eyeballs may be fused to the |
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skin covering them, or they may be small (microphthalmia) or missing |
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(anophthalmia). Eye abnormalities typically lead to impairment or loss of vision |
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in people with Fraser syndrome. Affected individuals can have other problems |
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related to abnormal eye development, including missing eyebrows or eyelashes or |
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a patch of hair extending from the side hairline to the eyebrow. |
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html:p |
Cutaneous syndactyly typically occurs in both the hands and the feet in Fraser |
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syndrome. In most people with this feature, the skin between the middle three |
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fingers and toes are fused, but the other digits can also be involved. Other |
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abnormalities of the hands and feet can occur in people with Fraser syndrome. |
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html:p |
Individuals with Fraser syndrome can have abnormalities of the genitalia, such |
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as an enlarged clitoris in females or undescended testes (cryptorchidism) in |
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males. Some affected individuals have external genitalia that do not appear |
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clearly female or male (ambiguous genitalia). |
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html:p |
The most common urinary tract abnormality in Fraser syndrome is the absence of |
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one or both kidneys (renal agenesis). Affected individuals can have other kidney |
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problems or abnormalities of the bladder and other parts of the urinary tract. |
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html:p |
A variety of other signs and symptoms can be involved in Fraser syndrome, |
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including heart malformations or abnormalities of the voicebox (larynx) or other |
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parts of the respiratory tract. Some affected individuals have facial |
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abnormalities, including ear or nose abnormalities or an opening in the upper |
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lip (cleft lip) with or without an opening in the roof of the mouth (cleft |
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palate). |
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related-gene-list |
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Frasier syndrome |
https://ghr.nlm.nih.gov/condition/frasier-syndrome |
Frasier syndrome is thought to be a rare condition; approximately 50 cases |
html:p |
Frasier syndrome is a condition that affects the kidneys and genitalia. |
ad |
autosomal dominant |
WT1 |
https://ghr.nlm.nih.gov/gene/WT1 |
FS |
db |
key |
2013-03 |
2017-12-29 |
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have been described in the scientific literature. |
html:p |
Frasier syndrome is characterized by kidney disease that begins in early |
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GTR |
C0950122 |
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childhood. Affected individuals have a condition called focal segmental |
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glomerulosclerosis, in which scar tissue forms in some glomeruli, which are the |
MeSH |
D052159 |
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tiny blood vessels in the kidneys that filter waste from blood. In people with |
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Frasier syndrome, this condition often leads to kidney failure by adolescence. |
OMIM |
136680 |
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html:p |
Although males with Frasier syndrome have the typical male chromosome pattern |
db |
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(46,XY), they have gonadal dysgenesis, in which external genitalia do not look |
Orphanet |
347 |
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clearly male or clearly female (ambiguous genitalia) or the genitalia appear |
db |
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completely female. The internal reproductive organs (gonads) are typically |
SNOMED CT |
445431000 |
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undeveloped and referred to as streak gonads. These abnormal gonads are |
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nonfunctional and often become cancerous, so they are usually removed surgically |
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early in life. |
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html:p |
Affected females usually have normal genitalia and gonads and have only the |
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kidney features of the condition. Because they do not have all the features of |
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the condition, females are usually given the diagnosis of isolated nephrotic |
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syndrome. |
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related-gene-list |
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Freeman-Sheldon syndrome |
https://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome |
Freeman-Sheldon syndrome is a rare disorder; its exact prevalence is |
html:p |
Freeman-Sheldon syndrome is a condition that primarily affects the face, hands, |
ad |
autosomal dominant |
MYH3 |
https://ghr.nlm.nih.gov/gene/MYH3 |
craniocarpotarsal dysplasia |
db |
key |
2010-09 |
2017-12-29 |
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弗里曼-谢尔登综合征 |
unknown. |
and feet. People with this disorder have a distinctive facial appearance |
code |
memo |
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craniocarpotarsal dystrophy |
GTR |
C0265224 |
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吹口哨面容综合征 |
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including a small mouth (microstomia) with pursed lips, giving the appearance of |
ar |
autosomal recessive |
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DA2A |
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a "whistling face." For this reason, the condition is sometimes called |
distal arthrogryposis, type 2A |
MeSH |
D003394 |
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"whistling face syndrome." |
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FSS |
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html:p |
People with Freeman-Sheldon syndrome may also have a prominent forehead and brow |
whistling face syndrome |
OMIM |
193700 |
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ridges, a sunken appearance of the middle of the face (midface hypoplasia), a |
whistling face-windmill vane hand syndrome |
db |
key |
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short nose, a long area between the nose and mouth (philtrum), deep folds in the |
Orphanet |
2053 |
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skin between the nose and lips (nasolabial folds), full cheeks, and a chin |
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key |
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dimple shaped like an "H" or "V". |
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SNOMED CT |
52616002 |
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html:p |
Affected individuals may have a number of abnormalities that affect the eyes. |
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These may include widely spaced eyes (hypertelorism), deep-set eyes, outside |
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corners of the eyes that point downward (down-slanting palpebral fissures), a |
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narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and |
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eyes that do not look in the same direction (strabismus). |
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html:p |
Other facial features that may occur in Freeman-Sheldon syndrome include an |
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unusually small tongue (microglossia) and jaw (micrognathia) and a high arch in |
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the roof of the mouth (high-arched palate). People with this disorder may have |
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difficulty swallowing (dysphagia), a failure to gain weight and grow at the |
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expected rate (failure to thrive), and respiratory complications that may be |
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life-threatening. Speech problems are also common in this disorder. Some |
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affected individuals have hearing loss. |
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html:p |
Freeman-Sheldon syndrome is also characterized by joint deformities |
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(contractures) that restrict movement. People with this disorder typically have |
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multiple contractures in the hands and feet at birth (distal arthrogryposis). |
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These contractures lead to permanently bent fingers and toes (camptodactyly), a |
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hand deformity in which all of the fingers are angled outward toward the fifth |
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finger (ulnar deviation, also called "windmill vane hand"), and inward- and |
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downward-turning feet (clubfoot). Affected individuals may also have a spine |
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that curves to the side (scoliosis). |
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html:p |
People with Freeman-Sheldon syndrome also have an increased risk of developing a |
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severe reaction to certain drugs used during surgery and other invasive |
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procedures. This reaction is called malignant hyperthermia. Malignant |
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hyperthermia occurs in response to some anesthetic gases, which are used to |
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block the sensation of pain. A particular type of muscle relaxant may also |
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trigger the reaction. If given these drugs, people at risk for malignant |
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hyperthermia may experience muscle rigidity, breakdown of muscle fibers |
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(rhabdomyolysis), a high fever, increased acid levels in the blood and other |
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tissues (acidosis), and a rapid heart rate. The complications of malignant |
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hyperthermia can be life-threatening unless they are treated promptly. |
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Intelligence is unaffected in most people with Freeman-Sheldon syndrome, but |
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approximately one-third have some degree of intellectual disability. |
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related-gene-list |
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Friedreich ataxia |
https://ghr.nlm.nih.gov/condition/friedreich-ataxia |
Friedreich ataxia is estimated to affect 1 in 40,000 people in the United |
html:p |
Friedreich ataxia is a genetic condition that affects the nervous system and |
ar |
autosomal recessive |
FXN |
https://ghr.nlm.nih.gov/gene/FXN |
FA |
db |
key |
2016-06 |
2017-12-29 |
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弗裏德賴希共濟失調 |
States. This condition is found in people with European, Middle Eastern, or |
causes movement problems. People with this condition develop impaired muscle |
FRDA |
GTR |
C1856689 |
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North African ancestry. It is rarely identified in other ethnic groups. |
coordination (ataxia) that worsens over time. Other features of this condition |
Friedreich spinocerebellar ataxia |
db |
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include the gradual loss of strength and sensation in the arms and legs; muscle |
Friedrich's ataxia |
GeneReviews |
friedreich |
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stiffness (spasticity); and impaired speech, hearing, and vision. Individuals |
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with Friedreich ataxia often have a form of heart disease called hypertrophic |
MeSH |
D005621 |
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cardiomyopathy, which enlarges and weakens the heart muscle and can be |
db |
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life-threatening. Some affected individuals develop diabetes or an abnormal |
OMIM |
229300 |
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curvature of the spine (scoliosis). |
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html:p |
Most people with Friedreich ataxia begin to experience the signs and symptoms of |
Orphanet |
95 |
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the disorder between ages 5 and 15. Poor coordination and balance are often the |
db |
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first noticeable features. Affected individuals typically require the use of a |
SNOMED CT |
10394003 |
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wheelchair about 10 years after signs and symptoms appear. |
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html:p |
About 25 percent of people with Friedreich ataxia have an atypical form in which |
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signs and symptoms begin after age 25. Affected individuals who develop |
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Friedreich ataxia between ages 26 and 39 are considered to have late-onset |
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Friedreich ataxia (LOFA). When the signs and symptoms begin after age 40 the |
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condition is called very late-onset Friedreich ataxia (VLOFA). LOFA and VLOFA |
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usually progress more slowly than typical Friedreich ataxia. |
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related-gene-list |
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Frontometaphyseal dysplasia |
https://ghr.nlm.nih.gov/condition/frontometaphyseal-dysplasia |
Frontometaphyseal dysplasia is a rare disorder; only a few dozen cases have |
html:p |
Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal |
xd |
X-linked dominant |
FLNA |
https://ghr.nlm.nih.gov/gene/FLNA |
FMD |
db |
key |
2007-11 |
2017-12-29 |
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額骨骺發育異常 |
been reported worldwide. |
development and other health problems. It is a member of a group of related |
GTR |
C0265293 |
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conditions called otopalatodigital spectrum disorders, which also includes |
db |
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otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and |
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GeneReviews |
opd |
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Melnick-Needles syndrome. In general, these disorders involve hearing loss |
db |
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caused by malformations in the tiny bones in the ears (ossicles), problems in |
MeSH |
D010009 |
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the development of the roof of the mouth (palate), and skeletal abnormalities |
db |
key |
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involving the fingers and/or toes (digits). |
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OMIM |
305620 |
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html:p |
Frontometaphyseal dysplasia is distinguished from the other otopalatodigital |
db |
key |
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spectrum disorders by the presence of joint deformities called contractures that |
Orphanet |
1826 |
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restrict the movement of certain joints. People with frontometaphyseal |
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dysplasia may also have bowed limbs, an abnormal curvature of the spine |
SNOMED CT |
62803002 |
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(scoliosis), and abnormalities of the fingers and hands. |
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html:p |
Characteristic facial features may include prominent brow ridges; wide-set and |
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downward-slanting eyes; a very small lower jaw and chin (micrognathia); and |
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small, missing or misaligned teeth. Some affected individuals have hearing loss. |
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html:p |
In addition to skeletal abnormalities, individuals with frontometaphyseal |
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dysplasia may have obstruction of the ducts between the kidneys and bladder |
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(ureters), heart defects, or constrictions in the passages leading from the |
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windpipe to the lungs (the bronchi) that can cause problems with breathing. |
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html:p |
Males with frontometaphyseal dysplasia generally have more severe signs and |
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symptoms of the disorder than do females, who may show only the characteristic |
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facial features. |
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related-gene-list |
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Frontonasal dysplasia |
https://ghr.nlm.nih.gov/condition/frontonasal-dysplasia |
Frontonasal dysplasia is likely a rare condition; at least 100 cases have |
html:p |
Frontonasal dysplasia is a condition that results from abnormal development of |
ad |
autosomal dominant |
ALX1 |
https://ghr.nlm.nih.gov/gene/ALX1 |
FND |
db |
key |
2014-04 |
2017-12-29 |
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额鼻发育不良 |
been reported in the scientific literature. |
the head and face before birth. People with frontonasal dysplasia have at least |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
FNM |
GTR |
C1876203 |
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two of the following features: widely spaced eyes (ocular hypertelorism); a |
ar |
autosomal recessive |
ALX3 |
https://ghr.nlm.nih.gov/gene/ALX3 |
frontonasal dysplasia sequence |
db |
key |
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broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a |
related-gene |
gene-symbol |
ghr-page |
frontonasal malformation |
GTR |
C3150703 |
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central cleft involving the nose, upper lip, or roof of the mouth (palate); |
ALX4 |
https://ghr.nlm.nih.gov/gene/ALX4 |
frontorhiny |
db |
key |
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incomplete formation of the front of the skull with skin covering the head where |
median facial cleft syndrome |
GTR |
C3150706 |
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bone should be (anterior cranium bifidum occultum); or a widow's peak hairline. |
db |
key |
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html:p |
Other features of frontonasal dysplasia can include additional facial |
|
MeSH |
D019465 |
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malformations, absence or malformation of the tissue that connects the left and |
db |
key |
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right halves of the brain (the corpus callosum), and intellectual disability. |
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OMIM |
136760 |
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html:p |
There are at least three types of frontonasal dysplasia that are distinguished |
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by their genetic causes and their signs and symptoms. In addition to the |
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OMIM |
613451 |
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features previously described, each type of frontonasal dysplasia is associated |
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with other distinctive features. Individuals with frontonasal dysplasia type 1 |
OMIM |
613456 |
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typically have abnormalities of the nose, a long area between the nose and upper |
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lip (philtrum), and droopy upper eyelids (ptosis). Individuals with frontonasal |
Orphanet |
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dysplasia type 2 can have hair loss (alopecia) and an enlarged opening in the |
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two bones that make up much of the top and sides of the skull (enlarged parietal |
SNOMED CT |
254005007 |
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foramina). Males with this form of the condition often have genital |
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abnormalities. Features of frontonasal dysplasia type 3 include eyes that are |
SNOMED CT |
86610004 |
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missing (anophthalmia) or very small (microphthalmia) and low-set ears that are |
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rotated backward. Frontonasal dysplasia type 3 is typically associated with the |
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most severe facial abnormalities, but the severity of the condition varies |
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widely, even among individuals with the same type. |
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html:p |
Life expectancy of affected individuals depends on the severity of the |
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malformations and whether or not surgical intervention can improve associated |
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health problems, such as breathing and feeding problems caused by the facial |
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clefts. |
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related-gene-list |
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Frontotemporal dementia with parkinsonism-17 |
https://ghr.nlm.nih.gov/condition/frontotemporal-dementia-with-parkinsonism-17 |
The worldwide prevalence of FTDP-17 is unknown. In the Netherlands, where |
html:p |
Frontotemporal dementia with parkinsonism-17 (FTDP-17) is a brain disorder. It |
ad |
autosomal dominant |
MAPT |
https://ghr.nlm.nih.gov/gene/MAPT |
DDPAC |
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2017-03 |
2017-12-29 |
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the disease prevalence has been studied, it is estimated to affect 1 in 1 |
is part of a group of conditions, called frontotemporal dementia or |
disinhibition-dementia-parkinsonism-amytrophy complex |
GTR |
C0338451 |
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million people. However, the disorder is likely underdiagnosed, so it may |
frontotemporal degeneration, that are characterized by a loss of nerve cells |
familial Pick's disease |
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actually be more common than this estimate.FTDP-17 probably accounts for a small |
(neurons) in areas of the brain called the frontal and temporal lobes. Over |
FTDP-17 |
GeneReviews |
ftdp-17 |
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percentage of all cases of frontotemporal dementia. |
time, a loss of these cells can affect personality, behavior, language, and |
Wilhelmsen-Lynch disease |
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movement. |
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MeSH |
D057180 |
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html:p |
The signs and symptoms of FTDP-17 usually become noticeable in a person's |
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forties or fifties. Most affected people survive 5 to 10 years after the |
OMIM |
600274 |
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appearance of symptoms, although a few have survived for two decades or more. |
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html:p |
Changes in personality and behavior are often early signs of FTDP-17. These |
Orphanet |
282 |
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changes include a loss of inhibition, inappropriate emotional responses, |
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restlessness, neglect of personal hygiene, and a general loss of interest in |
SNOMED CT |
702429008 |
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activities and events. The disease also leads to deterioration of cognitive |
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functions (dementia), including problems with judgment, planning, and |
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concentration. Some people with FTDP-17 develop psychiatric symptoms, including |
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obsessive-compulsive behaviors, strongly held false beliefs (delusions), and |
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false perceptions (hallucinations). It may become difficult for affected |
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individuals to interact with others in a socially appropriate manner. They |
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increasingly require help with personal care and other activities of daily |
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living. |
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html:p |
Many people with FTDP-17 develop problems with speech and language. They may |
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have trouble finding words, confuse one word with another (semantic |
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paraphasias), and repeat words spoken by others (echolalia). Difficulties with |
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speech and language worsen over time, and most affected individuals eventually |
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lose the ability to communicate. |
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html:p |
FTDP-17 is also characterized by problems with movement that worsen over time. |
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Many affected individuals develop features of parkinsonism, including tremors, |
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rigidity, and unusually slow movement (bradykinesia). As the disease progresses, |
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most affected individuals become unable to walk. Some people with FTDP-17 also |
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have restricted up-and-down eye movement (vertical gaze palsy) and rapid |
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abnormal movements of both eyes (saccades). |
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synonym-list |
db-key-list |
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Fryns syndrome |
https://ghr.nlm.nih.gov/condition/fryns-syndrome |
The worldwide incidence of Fryns syndrome is unknown. More than 50 affected |
html:p |
Fryns syndrome is a condition that affects the development of many parts of the |
ar |
autosomal recessive |
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key |
2017-12-29 |
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|
Fryns氏症候群 |
individuals have been reported in the medical literature. Studies suggest that |
body. The features of this disorder vary widely among affected individuals and |
db-key |
C0220730 |
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Fryns syndrome occurs in 1.3 to 10 percent of all cases of congenital |
overlap with the signs and symptoms of several other disorders. These factors |
key |
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diaphragmatic hernia. |
can make Fryns syndrome difficult to diagnose. |
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db-key |
fryns |
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html:p |
Most people with Fryns syndrome have a defect in the muscle that separates the |
key |
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abdomen from the chest cavity (the diaphragm). The most common defect is a |
db-key |
D000015 |
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congenital diaphragmatic hernia, which is a hole in the diaphragm that develops |
key |
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before birth. This hole allows the stomach and intestines to move into the chest |
db-key |
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and crowd the heart and lungs. As a result, the lungs often do not develop |
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properly (pulmonary hypoplasia), which can cause life-threatening breathing |
db-key |
229850 |
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difficulties in affected infants. |
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html:p |
Other major signs of Fryns syndrome include abnormalities of the fingers and |
db-key |
2059 |
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toes and distinctive facial features. The tips of the fingers and toes tend to |
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be underdeveloped, resulting in a short and stubby appearance with small or |
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absent nails. Most affected individuals have several unusual facial features, |
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including widely spaced eyes (hypertelorism), a broad and flat nasal bridge, a |
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thick nasal tip, a wide space between the nose and upper lip (a long philtrum), |
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a large mouth (macrostomia), and a small chin (micrognathia). Many also have |
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low-set and abnormally shaped ears. |
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html:p |
Several additional features have been reported in people with Fryns syndrome. |
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These include small eyes (microphthalmia), clouding of the clear outer covering |
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of the eye (the cornea), and an opening in the roof of the mouth (cleft palate) |
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with or without a split in the lip (cleft lip). Fryns syndrome can also affect |
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the development of the brain, cardiovascular system, gastrointestinal system, |
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kidneys, and genitalia. |
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html:p |
Most people with Fryns syndrome die before birth or in early infancy from |
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pulmonary hypoplasia caused by a congenital diaphragmatic hernia. However, a few |
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affected individuals have lived into childhood. Many of these children have had |
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severe developmental delay and intellectual disability. |
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related-gene-list |
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Fuchs endothelial dystrophy |
https://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy |
The late-onset form of Fuchs endothelial dystrophy is a common condition, |
html:p |
Fuchs endothelial dystrophy is a condition that causes vision problems. The |
ad |
autosomal dominant |
COL8A2 |
https://ghr.nlm.nih.gov/gene/COL8A2 |
Fuchs atrophy |
db |
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2011-06 |
2017-12-29 |
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費氏角膜内皮营养不良 |
affecting approximately 4 percent of people over the age of 40. The early-onset |
first symptom of this condition is typically blurred vision in the morning that |
related-gene |
gene-symbol |
ghr-page |
Fuchs corneal dystrophy |
GTR |
C1850959 |
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(Vision) |
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variant of Fuchs endothelial dystrophy is rare, although the exact prevalence is |
usually clears during the day. Over time, affected individuals lose the ability |
SLC4A11 |
https://ghr.nlm.nih.gov/gene/SLC4A11 |
Fuchs dystrophy |
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unknown.For reasons that are unclear, women are affected with Fuchs endothelial |
to see details (visual acuity). People with Fuchs endothelial dystrophy also |
related-gene |
gene-symbol |
ghr-page |
Fuchs endothelial corneal dystrophy |
GTR |
C1857800 |
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dystrophy somewhat more frequently than men. |
become sensitive to bright lights. |
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TCF4 |
https://ghr.nlm.nih.gov/gene/TCF4 |
Fuchs' endothelial dystrophy |
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html:p |
Fuchs endothelial dystrophy specifically affects the front surface of the eye |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2750447 |
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called the cornea. Deposits called guttae, which are detectable during an eye |
ZEB1 |
https://ghr.nlm.nih.gov/gene/ZEB1 |
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exam, form in the middle of the cornea and eventually spread. These guttae |
GTR |
C2750448 |
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contribute to the loss of cells in the cornea, leading to vision problems. Tiny |
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blisters may develop on the cornea, which can burst and cause eye pain. |
GTR |
C2750449 |
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html:p |
The signs and symptoms of Fuchs endothelial dystrophy usually begin in a |
db |
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person's forties or fifties. A very rare early-onset variant of this condition |
GTR |
C2750450 |
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starts to affect vision in a person's twenties. |
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GTR |
C2750451 |
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db |
key |
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ICD-10-CM |
H18.51 |
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db |
key |
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MeSH |
D005642 |
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db |
key |
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OMIM |
136800 |
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db |
key |
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OMIM |
610158 |
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db |
key |
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OMIM |
613267 |
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db |
key |
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OMIM |
613268 |
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db |
key |
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OMIM |
613269 |
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db |
key |
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OMIM |
613270 |
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db |
key |
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OMIM |
613271 |
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db |
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Orphanet |
98974 |
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db |
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related-gene-list |
|
SNOMED CT |
193839007 |
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Fucosidosis |
https://ghr.nlm.nih.gov/condition/fucosidosis |
Fucosidosis is a rare condition; approximately 100 cases have been reported |
html:p |
Fucosidosis is a condition that affects many areas of the body, especially the |
ar |
autosomal recessive |
FUCA1 |
https://ghr.nlm.nih.gov/gene/FUCA1 |
Alpha-fucosidase deficiency |
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2008-12 |
2017-12-29 |
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岩糖酵素缺乏症(儲積症) |
worldwide. This condition appears to be most prevalent in Italy, Cuba, and the |
brain. Affected individuals have intellectual disability that worsens with age, |
Fucosidase deficiency |
GTR |
C0016788 |
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southwestern United States. |
and many develop dementia later in life. People with this condition often have |
Fucosidase Deficiency Disease |
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delayed development of motor skills such as walking; the skills they do acquire |
ICD-10-CM |
E77.1 |
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deteriorate over time. Additional signs and symptoms of fucosidosis include |
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impaired growth; abnormal bone development (dysostosis multiplex); seizures; |
MeSH |
D005645 |
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abnormal muscle stiffness (spasticity); clusters of enlarged blood vessels |
db |
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forming small, dark red spots on the skin (angiokeratomas); distinctive facial |
OMIM |
230000 |
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features that are often described as "coarse"; recurrent respiratory infections; |
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and abnormally large abdominal organs (visceromegaly). |
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Orphanet |
349 |
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html:p |
In severe cases, symptoms typically appear in infancy, and affected individuals |
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usually live into late childhood. In milder cases, symptoms begin at age 1 or |
SNOMED CT |
399045007 |
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2, and affected individuals tend to survive into mid-adulthood. |
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html:p |
In the past, researchers described two types of this condition based on symptoms |
SNOMED CT |
61172008 |
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and age of onset, but current opinion is that the two types are actually a |
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single disorder with signs and symptoms that range in severity. |
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SNOMED CT |
64716005 |
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related-gene-list |
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Fukuyama congenital muscular dystrophy |
https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy |
Fukuyama congenital muscular dystrophy is seen almost exclusively in Japan, |
html:p |
Fukuyama congenital muscular dystrophy is an inherited condition that |
ar |
autosomal recessive |
FKTN |
https://ghr.nlm.nih.gov/gene/FKTN |
Cerebromuscular dystrophy, Fukuyama type |
db |
key |
2008-08 |
2017-12-29 |
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先天性肌失養症 |
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where it is the second most common form of childhood muscular dystrophy (after |
predominantly affects the muscles, brain, and eyes. Congenital muscular |
FCMD |
GTR |
C0410174 |
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Duchenne muscular dystrophy). Fukuyama congenital muscular dystrophy has an |
dystrophies are a group of genetic conditions that cause muscle weakness and |
Fukuyama CMD |
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estimated incidence of 2 to 4 per 100,000 Japanese infants. |
wasting (atrophy) beginning very early in life. |
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Fukuyama muscular dystrophy |
GeneReviews |
cmd-overview |
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html:p |
Fukuyama congenital muscular dystrophy affects the skeletal muscles, which are |
Fukuyama syndrome |
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muscles the body uses for movement. The first signs of the disorder appear in |
Fukuyama type congenital muscular dystrophy |
GeneReviews |
fcmd |
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early infancy and include a weak cry, poor feeding, and weak muscle tone |
Muscular dystrophy, congenital progressive, with mental retardation |
db |
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(hypotonia). Weakness of the facial muscles often leads to a distinctive facial |
Muscular dystrophy, congenital, Fukuyama type |
MeSH |
D009136 |
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appearance including droopy eyelids (ptosis) and an open mouth. In childhood, |
Muscular dystrophy, congenital, with central nervous system involvement |
db |
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muscle weakness and joint deformities (contractures) restrict movement and |
Polymicrogyria with muscular dystrophy |
OMIM |
253800 |
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interfere with the development of motor skills such as sitting, standing, and |
db |
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walking. |
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Orphanet |
272 |
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html:p |
Fukuyama congenital muscular dystrophy also impairs brain development. People |
db |
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with this condition have a brain abnormality called cobblestone lissencephaly, |
SNOMED CT |
111502003 |
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in which the surface of the brain develops a bumpy, irregular appearance (like |
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that of cobblestones). These changes in the structure of the brain lead to |
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significantly delayed development of speech and motor skills and moderate to |
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severe intellectual disability. Social skills are less severely impaired. Most |
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children with Fukuyama congenital muscular dystrophy are never able to stand or |
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walk, although some can sit without support and slide across the floor in a |
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seated position. More than half of all affected children also experience |
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seizures. |
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html:p |
Other signs and symptoms of Fukuyama congenital muscular dystrophy include |
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impaired vision, other eye abnormalities, and slowly progressive heart problems |
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after age 10. As the disease progresses, affected people may develop swallowing |
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difficulties that can lead to a bacterial lung infection called aspiration |
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pneumonia. Because of the serious medical problems associated with Fukuyama |
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congenital muscular dystrophy, most people with the disorder live only into late |
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childhood or adolescence. |
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related-gene-list |
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Fumarase deficiency |
https://ghr.nlm.nih.gov/condition/fumarase-deficiency |
Fumarase deficiency is a very rare disorder. Approximately 100 affected |
html:p |
Fumarase deficiency is a condition that primarily affects the nervous system, |
ar |
autosomal recessive |
FH |
https://ghr.nlm.nih.gov/gene/FH |
fumarate hydratase deficiency |
db |
key |
2017-09 |
2017-12-29 |
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延胡索酸酶缺乏 |
individuals have been reported worldwide. Several were born in an isolated |
especially the brain. Affected infants may have an abnormally small head size |
fumaric aciduria |
GTR |
C0342770 |
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religious community in the southwestern United States. |
(microcephaly), abnormal brain structure, severe developmental delay, weak |
db |
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muscle tone (hypotonia), and failure to gain weight and grow at the expected |
GeneReviews |
fum |
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rate (failure to thrive). They may also experience seizures. Some people with |
db |
key |
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this disorder have unusual facial features, including a prominent forehead |
MeSH |
D008661 |
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(frontal bossing), low-set ears, a small jaw (micrognathia), widely spaced eyes |
db |
key |
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(ocular hypertelorism), and a depressed nasal bridge. An enlarged liver and |
OMIM |
606812 |
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spleen (hepatosplenomegaly) may also be associated with this disorder, as well |
db |
key |
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as an excess of red blood cells (polycythemia) or deficiency of white blood |
Orphanet |
24 |
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cells (leukopenia) in infancy. Affected individuals usually survive only a few |
db |
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months, but a few have lived into early adulthood. |
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SNOMED CT |
124616002 |
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related-gene-list |
|
SNOMED CT |
237983002 |
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Fundus albipunctatus |
https://ghr.nlm.nih.gov/condition/fundus-albipunctatus |
Fundus albipunctatus is a rare disorder. Its prevalence is unknown. |
html:p |
Fundus albipunctatus is an eye disorder characterized by an impaired ability to |
ar |
autosomal recessive |
RDH5 |
https://ghr.nlm.nih.gov/gene/RDH5 |
albipunctate retinal dystrophy |
db |
key |
2017-02 |
2017-12-29 |
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眼底白斑 |
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see in low light (night blindness) and the presence of whitish-yellow flecks in |
related-gene |
gene-symbol |
ghr-page |
Lauber's disease |
GTR |
C0311338 |
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the retina, which is the specialized light-sensitive tissue in the inner lining |
RLBP1 |
https://ghr.nlm.nih.gov/gene/RLBP1 |
pigmentary retinal dystrophy |
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of the back of the eye (the fundus). The flecks are detected during an eye |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
H35.52 |
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examination. |
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RPE65 |
https://ghr.nlm.nih.gov/gene/RPE65 |
db |
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html:p |
Individuals with fundus albipunctatus experience night blindness from an early |
MeSH |
D009755 |
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age. In particular, they have delayed dark adaptation, which means they have |
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trouble adapting from bright light to dark conditions, such as when driving into |
MeSH |
D015785 |
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a dark tunnel on a sunny day. It often takes hours for adaptation to occur. |
db |
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Their vision in bright light is usually normal. |
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OMIM |
136880 |
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html:p |
The flecks are especially abundant near the outer edge (the periphery) of the |
db |
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retina. Their density varies among affected individuals; some people have |
Orphanet |
227796 |
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numerous flecks that overlap, while others have fewer. For unknown reasons, the |
db |
key |
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flecks get smaller or fade with age in some affected individuals, although night |
SNOMED CT |
68222009 |
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vision does not improve. |
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html:p |
While fundus albipunctatus typically does not worsen (progress) over time, some |
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individuals with the condition develop other eye conditions, such as breakdown |
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of the central region of the retina known as the macula (macular dystrophy) with |
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loss of specialized light receptor cells called cones, which can affect vision |
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in bright light. |
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related-gene-list |
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Galactosemia |
https://ghr.nlm.nih.gov/condition/galactosemia |
Classic galactosemia occurs in 1 in 30,000 to 60,000 newborns. |
html:p |
Galactosemia is a disorder that affects how the body processes a simple sugar |
ar |
autosomal recessive |
GALE |
https://ghr.nlm.nih.gov/gene/GALE |
classic galactosemia |
db |
key |
2015-08 |
2017-12-29 |
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半乳糖血症 |
Galactosemia type II and type III are less common; type II probably affects |
called galactose. A small amount of galactose is present in many foods. It is |
related-gene |
gene-symbol |
ghr-page |
epimerase deficiency galactosemia |
GTR |
C0016952 |
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fewer than 1 in 100,000 newborns and type III appears to be very rare. |
primarily part of a larger sugar called lactose, which is found in all dairy |
GALK1 |
https://ghr.nlm.nih.gov/gene/GALK1 |
galactokinase deficiency disease |
db |
key |
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products and many baby formulas. The signs and symptoms of galactosemia result |
related-gene |
gene-symbol |
ghr-page |
galactose-1-phosphate uridyl-transferase deficiency disease |
GTR |
C0268151 |
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from an inability to use galactose to produce energy. |
GALT |
https://ghr.nlm.nih.gov/gene/GALT |
galactose epimerase deficiency |
db |
key |
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html:p |
Researchers have identified several types of galactosemia. These conditions are |
GALE deficiency |
GTR |
C0268155 |
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each caused by mutations in a particular gene and affect different enzymes |
GALK deficiency |
db |
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involved in breaking down galactose. |
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GALT deficiency |
GTR |
C0751161 |
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html:p |
Classic galactosemia, also known as type I, is the most common and most severe |
UDP-galactose-4-epimerase deficiency disease |
db |
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form of the condition. If infants with classic galactosemia are not treated |
UTP hexose-1-phosphate uridylyltransferase deficiency |
GeneReviews |
duarte-gal |
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promptly with a low-galactose diet, life-threatening complications appear within |
db |
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a few days after birth. Affected infants typically develop feeding |
|
GeneReviews |
galactosemia |
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difficulties, a lack of energy (lethargy), a failure to gain weight and grow as |
db |
key |
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expected (failure to thrive), yellowing of the skin and whites of the eyes |
|
GeneReviews |
gale-def |
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(jaundice), liver damage, and abnormal bleeding. Other serious complications of |
db |
key |
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this condition can include overwhelming bacterial infections (sepsis) and shock. |
ICD-10-CM |
E74.21 |
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Affected children are also at increased risk of delayed development, clouding |
db |
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of the lens of the eye (cataract), speech difficulties, and intellectual |
MeSH |
D005693 |
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disability. Females with classic galactosemia may develop reproductive problems |
db |
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caused by an early loss of function of the ovaries (premature ovarian |
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OMIM |
230200 |
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insufficiency). |
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db |
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html:p |
Galactosemia type II (also called galactokinase deficiency) and type III (also |
OMIM |
230350 |
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called galactose epimerase deficiency) cause different patterns of signs and |
db |
key |
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symptoms. Galactosemia type II causes fewer medical problems than the classic |
OMIM |
230400 |
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type. Affected infants develop cataracts but otherwise experience few long-term |
db |
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complications. The signs and symptoms of galactosemia type III vary from mild to |
Orphanet |
352 |
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severe and can include cataracts, delayed growth and development, intellectual |
db |
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disability, liver disease, and kidney problems. |
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SNOMED CT |
124302001 |
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db |
key |
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SNOMED CT |
124354006 |
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db |
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SNOMED CT |
190745006 |
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db |
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related-gene-list |
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SNOMED CT |
8849004 |
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Galactosialidosis |
https://ghr.nlm.nih.gov/condition/galactosialidosis |
The prevalence of galactosialidosis is unknown; more than 100 cases have |
html:p |
Galactosialidosis is a condition that affects many areas of the body. The three |
ar |
autosomal recessive |
CTSA |
https://ghr.nlm.nih.gov/gene/CTSA |
deficiency of cathepsin A |
db |
key |
2009-02 |
2017-12-29 |
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半乳糖唾液酸贮积症 |
been reported. Approximately 60 percent of people with galactosialidosis have |
forms of galactosialidosis are distinguished by the age at which symptoms |
Goldberg syndrome |
GTR |
C0268233 |
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the juvenile/adult form. Most people with this type of the condition are of |
develop and the pattern of features. |
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lysosomal protective protein deficiency |
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Japanese descent. |
html:p |
The early infantile form of galactosialidosis is associated with extensive |
neuraminidase deficiency with beta-galactosidase deficiency |
MeSH |
D020140 |
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swelling caused by fluid accumulation before birth (hydrops fetalis), a soft |
PPCA deficiency |
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out-pouching in the lower abdomen (an inguinal hernia), and an enlarged liver |
OMIM |
256540 |
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and spleen (hepatosplenomegaly). Additional features of this form include |
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abnormal bone development (dysostosis multiplex) and distinctive facial features |
Orphanet |
351 |
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that are often described as "coarse." Some infants have an enlarged heart |
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(cardiomegaly); an eye abnormality called a cherry-red spot, which can be |
SNOMED CT |
35691006 |
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identified with an eye examination; and kidney disease that can progress to |
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kidney failure. Infants with this form usually are diagnosed between birth and |
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3 months; they typically live into late infancy. |
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html:p |
The late infantile form of galactosialidosis shares some features with the early |
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infantile form, although the signs and symptoms are somewhat less severe and |
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begin later in infancy. This form is characterized by short stature, dysostosis |
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multiplex, heart valve problems, hepatosplenomegaly, and "coarse" facial |
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features. Other symptoms seen in some individuals with this type include |
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intellectual disability, hearing loss, and a cherry-red spot. Children with |
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this condition typically develop symptoms within the first year of life. The |
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life expectancy of individuals with this type varies depending on the severity |
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of symptoms. |
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html:p |
The juvenile/adult form of galactosialidosis has signs and symptoms that are |
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somewhat different than those of the other two types. This form is |
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distinguished by difficulty coordinating movements (ataxia), muscle twitches |
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(myoclonus), seizures, and progressive intellectual disability. People with |
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this form typically also have dark red spots on the skin (angiokeratomas), |
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abnormalities in the bones of the spine, "coarse" facial features, a cherry-red |
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spot, vision loss, and hearing loss. The age at which symptoms begin to develop |
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varies widely among affected individuals, but the average age is 16. This form |
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is typically associated with a normal life expectancy. |
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Galloway-Mowat Syndrome (Microcephaly, Hiatus hernia, andNephrotic Syndrome) |
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Galloway-Mowat症候群 (小頭-橫隔裂孔疝氣-腎病症候群) |
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related-gene-list |
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Gastrointestinal stromal tumor |
https://ghr.nlm.nih.gov/condition/gastrointestinal-stromal-tumor |
Approximately 5,000 new cases of GIST are diagnosed in the United States |
html:p |
A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the |
ad |
autosomal dominant |
BRAF |
https://ghr.nlm.nih.gov/gene/BRAF |
gastrointestinal stromal neoplasm |
db |
key |
2014-09 |
2017-12-29 |
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胃腸道基質瘤 |
each year. However, GISTs may be more common than this estimate because small |
gastrointestinal tract, most commonly in the stomach or small intestine. The |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
gastrointestinal stromal sarcoma |
GTR |
C0238198 |
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(Tumor) |
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tumors may remain undiagnosed. |
tumors are thought to grow from specialized cells found in the gastrointestinal |
ar |
autosomal recessive |
KIT |
https://ghr.nlm.nih.gov/gene/KIT |
GIST |
db |
key |
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tract called interstitial cells of Cajal (ICCs) or precursors to these cells. |
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D046152 |
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GISTs are usually found in adults between ages 40 and 70; rarely, children and |
PDGFRA |
https://ghr.nlm.nih.gov/gene/PDGFRA |
db |
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young adults develop these tumors. The tumors can be cancerous (malignant) or |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
606764 |
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noncancerous (benign). |
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SDHA |
https://ghr.nlm.nih.gov/gene/SDHA |
db |
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html:p |
Small tumors may cause no signs or symptoms. However, some people with GISTs may |
related-gene |
gene-symbol |
ghr-page |
|
Orphanet |
44890 |
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experience pain or swelling in the abdomen, nausea, vomiting, loss of appetite, |
SDHB |
https://ghr.nlm.nih.gov/gene/SDHB |
db |
key |
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or weight loss. Sometimes, tumors cause bleeding, which may lead to low red |
related-gene |
gene-symbol |
ghr-page |
|
SNOMED CT |
420120006 |
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blood cell counts (anemia) and, consequently, weakness and tiredness. Bleeding |
SDHC |
https://ghr.nlm.nih.gov/gene/SDHC |
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into the intestinal tract may cause black and tarry stools, and bleeding into |
related-gene |
gene-symbol |
ghr-page |
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the throat or stomach may cause vomiting of blood. |
SDHD |
https://ghr.nlm.nih.gov/gene/SDHD |
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html:p |
Affected individuals with no family history of GIST typically have only one |
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tumor (called a sporadic GIST). People with a family history of GISTs (called |
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familial GISTs) often have multiple tumors and additional signs or symptoms, |
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including noncancerous overgrowth (hyperplasia) of other cells in the |
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gastrointestinal tract and patches of dark skin on various areas of the body. |
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Some affected individuals have a skin condition called urticaria pigmentosa |
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(also known as cutaneous mastocytosis), which is characterized by raised patches |
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of brownish skin that sting or itch when touched. |
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related-gene-list |
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Gaucher disease |
https://ghr.nlm.nih.gov/condition/gaucher-disease |
Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general |
html:p |
Gaucher disease is an inherited disorder that affects many of the body's organs |
ar |
autosomal recessive |
GBA |
https://ghr.nlm.nih.gov/gene/GBA |
cerebroside lipidosis syndrome |
db |
key |
2014-09 |
2017-12-29 |
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高雪氏症 |
population. Type 1 is the most common form of the disorder; it occurs more |
and tissues. The signs and symptoms of this condition vary widely among |
Gaucher splenomegaly |
GTR |
C0017205 |
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frequently in people of Ashkenazi (eastern and central European) Jewish heritage |
affected individuals. Researchers have described several types of Gaucher |
Gaucher syndrome |
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than in those with other backgrounds. This form of the condition affects 1 in |
disease based on their characteristic features. |
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Gaucher's disease |
GTR |
C0268250 |
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500 to 1,000 people of Ashkenazi Jewish heritage. The other forms of Gaucher |
html:p |
Type 1 Gaucher disease is the most common form of this condition. Type 1 is |
Gauchers disease |
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disease are uncommon and do not occur more frequently in people of Ashkenazi |
also called non-neuronopathic Gaucher disease because the brain and spinal cord |
GD |
GTR |
C0268251 |
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Jewish descent. |
(the central nervous system) are usually not affected. The features of this |
glucocerebrosidase deficiency |
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condition range from mild to severe and may appear anytime from childhood to |
glucocerebrosidosis |
GTR |
C1856476 |
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adulthood. Major signs and symptoms include enlargement of the liver and spleen |
glucosyl cerebroside lipidosis |
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(hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising |
glucosylceramidase deficiency |
GTR |
C1856491 |
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caused by a decrease in blood platelets (thrombocytopenia), lung disease, and |
glucosylceramide beta-glucosidase deficiency |
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bone abnormalities such as bone pain, fractures, and arthritis. |
glucosylceramide lipidosis |
GTR |
C1856492 |
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html:p |
Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder |
kerasin histiocytosis |
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because they are characterized by problems that affect the central nervous |
kerasin lipoidosis |
GTR |
C1961835 |
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system. In addition to the signs and symptoms described above, these conditions |
kerasin thesaurismosis |
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can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher |
lipoid histiocytosis (kerasin type) |
GeneReviews |
gaucher |
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disease usually causes life-threatening medical problems beginning in infancy. |
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Type 3 Gaucher disease also affects the nervous system, but it tends to worsen |
ICD-10-CM |
E75.22 |
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more slowly than type 2. |
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html:p |
The most severe type of Gaucher disease is called the perinatal lethal form. |
MeSH |
D005776 |
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This condition causes severe or life-threatening complications starting before |
db |
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birth or in infancy. Features of the perinatal lethal form can include |
OMIM |
230800 |
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extensive swelling caused by fluid accumulation before birth (hydrops fetalis); |
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dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; |
OMIM |
230900 |
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distinctive facial features; and serious neurological problems. As its name |
db |
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indicates, most infants with the perinatal lethal form of Gaucher disease |
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OMIM |
231000 |
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survive for only a few days after birth. |
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html:p |
Another form of Gaucher disease is known as the cardiovascular type because it |
OMIM |
231005 |
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primarily affects the heart, causing the heart valves to harden (calcify). |
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People with the cardiovascular form of Gaucher disease may also have eye |
Orphanet |
355 |
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abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly). |
db |
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Orphanet |
2072 |
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db |
key |
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SNOMED CT |
12246008 |
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db |
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SNOMED CT |
190794006 |
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db |
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SNOMED CT |
5963005 |
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db |
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related-gene-list |
|
SNOMED CT |
62201009 |
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Geleophysic dysplasia |
https://ghr.nlm.nih.gov/condition/geleophysic-dysplasia |
Geleophysic dysplasia is a rare disorder whose prevalence is unknown. More |
html:p |
Geleophysic dysplasia is an inherited condition that affects many parts of the |
ar |
autosomal recessive |
ADAMTSL2 |
https://ghr.nlm.nih.gov/gene/ADAMTSL2 |
geleophysic dwarfism |
db |
key |
2009-12 |
2017-12-29 |
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Geleophysic發育不良 |
than 30 affected individuals have been reported. |
body. It is characterized by abnormalities involving the bones, joints, heart, |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3280054 |
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and skin. |
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FBN1 |
https://ghr.nlm.nih.gov/gene/FBN1 |
db |
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html:p |
People with geleophysic dysplasia have short stature with very short hands and |
GeneReviews |
geleophys-dysp |
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feet. Most also develop thickened skin and joint deformities called |
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contractures, both of which significantly limit mobility. Affected individuals |
MeSH |
D009139 |
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usually have a limited range of motion in their fingers, toes, wrists, and |
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elbows. Additionally, contractures in the legs and hips cause many affected |
MeSH |
D017880 |
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people to walk on their toes. |
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db |
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html:p |
The name of this condition, which comes from the Greek words for happy |
OMIM |
231050 |
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("gelios") and nature ("physis"), is derived from the good-natured facial |
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appearance seen in most affected individuals. The distinctive facial features |
OMIM |
614185 |
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associated with this condition include a round face with full cheeks, a small |
db |
key |
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nose with upturned nostrils, a broad nasal bridge, a thin upper lip, upturned |
Orphanet |
2623 |
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corners of the mouth, and a flat area between the upper lip and the nose |
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db |
key |
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(philtrum). |
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SNOMED CT |
28557005 |
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Geleophysic dysplasia is also characterized by heart (cardiac) problems, |
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particularly abnormalities of the cardiac valves. These valves normally control |
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the flow of blood through the heart. In people with geleophysic dysplasia, the |
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cardiac valves thicken, which impedes blood flow and increases blood pressure in |
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the heart. Other heart problems have also been reported in people with |
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geleophysic dysplasia; these include a narrowing of the artery from the heart to |
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the lungs (pulmonary stenosis) and a hole between the two upper chambers of the |
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heart (atrial septal defect). |
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html:p |
Other features of geleophysic dysplasia can include an enlarged liver |
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(hepatomegaly) and recurrent respiratory and ear infections. In severe cases, a |
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narrowing of the windpipe (tracheal stenosis) can cause serious breathing |
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problems. As a result of heart and respiratory abnormalities, geleophysic |
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dysplasia is often life-threatening in childhood. However, some affected people |
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have lived into adulthood. |
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related-gene-list |
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Generalized arterial calcification of infancy |
https://ghr.nlm.nih.gov/condition/generalized-arterial-calcification-of-infancy |
The prevalence of GACI has been estimated to be about 1 in 391,000. At |
html:p |
Generalized arterial calcification of infancy (GACI) is a disorder affecting the |
ar |
autosomal recessive |
ABCC6 |
https://ghr.nlm.nih.gov/gene/ABCC6 |
arteriopathia calcificans infantum |
db |
key |
2015-01 |
2017-12-29 |
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Idiopathic Infantile Arterial Calcification |
least 200 affected individuals have been described in the medical literature. |
circulatory system that becomes apparent before birth or within the first few |
related-gene |
gene-symbol |
ghr-page |
diffuse arterial calcifying elastopathy of infancy |
GTR |
C3276161 |
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特發性嬰兒動脈硬化 |
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months of life. It is characterized by abnormal accumulation of the mineral |
ENPP1 |
https://ghr.nlm.nih.gov/gene/ENPP1 |
GACI |
db |
key |
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calcium (calcification) in the walls of the blood vessels that carry blood from |
idiopathic infantile arterial calcification |
GeneReviews |
gaci |
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the heart to the rest of the body (the arteries). This calcification often |
idiopathic obliterative arteriopathy |
db |
key |
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occurs along with thickening of the lining of the arterial walls (the intima). |
IIAC |
MeSH |
D061205 |
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These changes lead to narrowing (stenosis) and stiffness of the arteries, which |
infantile calcifying arteriopathy |
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key |
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forces the heart to work harder to pump blood. As a result, heart failure may |
medial coronary sclerosis of infancy |
OMIM |
208000 |
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develop in affected individuals, with signs and symptoms including difficulty |
occlusive infantile arteriopathy |
db |
key |
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breathing, accumulation of fluid (edema) in the extremities, a bluish appearance |
OMIM |
614473 |
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of the skin or lips (cyanosis), severe high blood pressure (hypertension), and |
db |
key |
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an enlarged heart (cardiomegaly). |
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Orphanet |
51608 |
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html:p |
People with GACI may also have calcification in other organs and tissues, |
db |
key |
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particularly around the joints. In addition, they may have hearing loss or |
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SNOMED CT |
68926002 |
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softening and weakening of the bones (rickets). |
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html:p |
Some individuals with GACI also develop features similar to those of another |
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disorder called pseudoxanthoma elasticum (PXE). PXE is characterized by the |
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accumulation of calcium and other minerals (mineralization) in elastic fibers, |
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which are a component of connective tissue. Connective tissue provides strength |
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and flexibility to structures throughout the body. Features characteristic of |
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PXE that also occur in GACI include yellowish bumps called papules on the |
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underarms and other areas of skin that touch when a joint bends (flexor areas); |
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and abnormalities called angioid streaks affecting tissue at the back of the |
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eye, which can be detected during an eye examination. |
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html:p |
As a result of the cardiovascular problems associated with GACI, individuals |
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with this condition often do not survive past infancy, with death typically |
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caused by a heart attack or stroke. However, affected individuals who survive |
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their first six months, known as the critical period, can live into adolescence |
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or early adulthood. |
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related-gene-list |
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Generalized pustular psoriasis |
https://ghr.nlm.nih.gov/condition/generalized-pustular-psoriasis |
GPP is the rarest form of psoriasis. Although the worldwide prevalence of |
html:p |
Generalized pustular psoriasis (GPP) is a severe form of a skin disorder called |
ad |
autosomal dominant |
AP1S3 |
https://ghr.nlm.nih.gov/gene/AP1S3 |
acute generalised pustular psoriasis |
db |
key |
2017-05 |
2017-12-29 |
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一般性膿皰牛皮癬 |
GPP is unknown, the condition is estimated to affect 2 per million people in |
psoriasis. GPP and other forms of psoriasis are caused by abnormal inflammation. |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
deficiency of the interleukin-36 receptor antagonist |
GTR |
C0343055 |
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Europe. It also occurs in approximately 0.6 per million people each year in |
Inflammation is a normal immune system response to injury and foreign invaders |
ar |
autosomal recessive |
CARD14 |
https://ghr.nlm.nih.gov/gene/CARD14 |
DITRA |
db |
key |
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Japan. |
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(such as bacteria). However, when inflammation is abnormal and uncontrolled, it |
related-gene |
gene-symbol |
ghr-page |
generalized pustular psoriasis of von Zumbusch |
GTR |
C4015235 |
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can damage the body's tissues and organs. Individuals with GPP have repeated |
IL36RN |
https://ghr.nlm.nih.gov/gene/IL36RN |
GPP |
db |
key |
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episodes in which large areas of skin become red and inflamed and develop small |
von Zumbusch psoriasis |
ICD-10-CM |
L40.1 |
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pus-filled blisters (pustules). The skin problems can be accompanied by fever, |
db |
key |
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extreme tiredness (fatigue), muscle weakness, an increased number of white blood |
MeSH |
D011565 |
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cells, and other signs of inflammation throughout the body (systemic |
|
db |
key |
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inflammation). The inflammation problems subside and reappear often. Episodes |
OMIM |
602723 |
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can be triggered by infection, exposure to or withdrawal from certain |
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db |
key |
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medications, menstruation, or pregnancy, although the trigger is often unknown. |
OMIM |
614204 |
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GPP can be life-threatening if not treated. |
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html:p |
While many affected individuals have features only of GPP (called GPP alone), |
OMIM |
616106 |
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some develop features of another skin condition called psoriasis vulgaris (PV), |
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either before or after GPP appears. PV, the most common form of psoriasis, is |
Orphanet |
247353 |
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characterized by red, scaly patches of skin (plaques) on parts of the body. |
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related-gene-list |
|
SNOMED CT |
238612002 |
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Genetic epilepsy with febrile seizures plus |
https://ghr.nlm.nih.gov/condition/genetic-epilepsy-with-febrile-seizures-plus |
GEFS+ is a rare condition. Its prevalence is unknown. |
html:p |
Genetic epilepsy with febrile seizures plus (GEFS+) is a spectrum of seizure |
ad |
autosomal dominant |
GABRD |
https://ghr.nlm.nih.gov/gene/GABRD |
GEFS+ |
db |
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2017-07 |
2017-12-29 |
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disorders of varying severity. GEFS+ is usually diagnosed in families whose |
related-gene |
gene-symbol |
ghr-page |
generalized epilepsy with febrile seizures plus |
GTR |
C1858672 |
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members have a combination of febrile seizures, which are triggered by a high |
GABRG2 |
https://ghr.nlm.nih.gov/gene/GABRG2 |
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fever, and recurrent seizures (epilepsy) of other types, including seizures that |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1858673 |
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are not related to fevers (afebrile seizures). The additional seizure types |
SCN1A |
https://ghr.nlm.nih.gov/gene/SCN1A |
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usually involve both sides of the brain (generalized seizures); however, |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1858674 |
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seizures that involve only one side of the brain (partial seizures) occur in |
SCN1B |
https://ghr.nlm.nih.gov/gene/SCN1B |
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some affected individuals. The most common types of seizure in people with GEFS+ |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2751777 |
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include myoclonic seizures, which cause involuntary muscle twitches; atonic |
SCN2A |
https://ghr.nlm.nih.gov/gene/SCN2A |
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seizures, which involve sudden episodes of weak muscle tone; and absence |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3150401 |
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seizures, which cause loss of consciousness for short periods that appear as |
SCN9A |
https://ghr.nlm.nih.gov/gene/SCN9A |
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staring spells. |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C3502809 |
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html:p |
The most common and mildest feature of the GEFS+ spectrum is simple febrile |
STX1B |
https://ghr.nlm.nih.gov/gene/STX1B |
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seizures, which begin in infancy and usually stop by age 5. When the febrile |
GTR |
C4015395 |
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seizures continue after age 5 or other types of seizure develop, the condition |
db |
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is called febrile seizures plus (FS+). Seizures in FS+ usually end in early |
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GTR |
CN120574 |
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adolescence. |
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html:p |
A condition called Dravet syndrome (also known as severe myoclonic epilepsy of |
GeneReviews |
gefs |
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infancy 嬰兒重度肌陣攣癲癇 or SMEI) is often considered part of the GEFS+ spectrum and is the most |
db |
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severe disorder in this group. Affected infants typically have prolonged |
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MeSH |
D003294 |
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seizures lasting several minutes (status epilepticus), which are triggered by |
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fever. Other seizure types, including afebrile seizures, begin in early |
MeSH |
D004827 |
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childhood. These types can include myoclonic or absence seizures. In Dravet |
db |
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syndrome, these seizures are difficult to control with medication, and they can |
OMIM |
604233 |
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worsen over time. A decline in brain function is also common in Dravet syndrome. |
db |
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Affected individuals usually develop normally in the first year of life, but |
|
OMIM |
604403 |
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then development stalls, and some affected children lose already-acquired skills |
db |
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(developmental regression). Many people with Dravet syndrome have difficulty |
OMIM |
611277 |
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coordinating movements (ataxia) and intellectual disability. |
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db |
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html:p |
Some people with GEFS+ have seizure disorders of intermediate severity that may |
OMIM |
613060 |
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not fit into the classical diagnosis of simple febrile seizures, FS+, or Dravet |
db |
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syndrome. |
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OMIM |
613863 |
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html:p |
Family members with GEFS+ may have different combinations of febrile seizures |
db |
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and epilepsy. For example, one affected family member may have only febrile |
OMIM |
616172 |
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seizures, while another also has myoclonic epilepsy. While GEFS+ is usually |
db |
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diagnosed in families, it can occur in individuals with no history of the |
|
Orphanet |
33069 |
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condition in their family. |
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Orphanet |
36387 |
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related-gene-list |
|
SNOMED CT |
699688008 |
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Genitopatellar syndrome |
https://ghr.nlm.nih.gov/condition/genitopatellar-syndrome |
Genitopatellar syndrome is estimated to occur in fewer than 1 per million |
html:p |
Genitopatellar syndrome is a rare condition characterized by genital |
ad |
autosomal dominant |
KAT6B |
https://ghr.nlm.nih.gov/gene/KAT6B |
absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and |
db |
key |
2013-02 |
2017-12-29 |
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生殖器-髌骨综合征 |
people. At least 18 cases have been reported in the medical literature. |
abnormalities, missing or underdeveloped kneecaps (patellae), intellectual |
mental retardation |
GTR |
C1853566 |
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disability, and abnormalities affecting other parts of the body. |
GPS |
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html:p |
The genital abnormalities in affected males typically include undescended testes |
GeneReviews |
kat6b-dis |
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(cryptorchidism) and underdevelopment of the scrotum. Affected females can have |
db |
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an enlarged clitoris (clitoromegaly) and small labia. |
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MeSH |
D000015 |
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html:p |
Missing or underdeveloped patellae is the most common skeletal abnormality |
db |
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associated with genitopatellar syndrome. Affected individuals may have |
|
MeSH |
D008607 |
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additional skeletal problems, including joint deformities (contractures) |
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db |
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involving the hips and knees or an inward- and upward-turning foot called a |
MeSH |
D014564 |
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clubfoot. Bone abnormalities of the spine, ribs, collarbone (clavicle), and |
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pelvis have also been reported. |
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OMIM |
606170 |
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html:p |
Genitopatellar syndrome is also associated with delayed development and |
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intellectual disability, which are often severe. Affected individuals may have |
Orphanet |
85201 |
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an usually small head (microcephaly) and structural brain abnormalities, |
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including underdeveloped or absent tissue connecting the left and right halves |
SNOMED CT |
702367005 |
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of the brain (agenesis of the corpus callosum). |
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html:p |
People with genitopatellar syndrome may have distinctive facial features such as |
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prominent cheeks and eyes, a nose with a rounded tip or a broad bridge, an |
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unusually small chin (micrognathia) or a chin that protrudes (prognathism), and |
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a narrowing of the head at the temples. Many affected infants have weak muscle |
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tone (hypotonia) that leads to breathing and feeding difficulties. The condition |
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can also be associated with abnormalities of the heart, kidneys, and teeth. |
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related-gene-list |
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Ghosal hematodiaphyseal dysplasia |
https://ghr.nlm.nih.gov/condition/ghosal-hematodiaphyseal-dysplasia |
Ghosal hematodiaphyseal dysplasia is a rare disorder; only a few cases have |
html:p |
Ghosal hematodiaphyseal dysplasia is a rare inherited condition characterized by |
ar |
autosomal recessive |
TBXAS1 |
https://ghr.nlm.nih.gov/gene/TBXAS1 |
diaphyseal dysplasia associated with anemia |
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key |
2014-03 |
2017-12-29 |
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been reported in the medical literature. Most affected individuals have been |
abnormally thick bones and a shortage of red blood cells (anemia). Signs and |
GHDD |
GTR |
C1856465 |
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from the Middle East and India. |
symptoms of the condition become apparent in early childhood. |
Ghosal hemato-diaphyseal dysplasia |
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html:p |
In affected individuals, the long bones in the arms and legs are unusually dense |
Ghosal syndrome |
MeSH |
D010009 |
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and wide. The bone changes specifically affect the shafts of the long bones, |
Ghosal-type hemato-diaphyseal dysplasia |
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called diaphyses, and areas near the ends of the bones called metaphyses. The |
OMIM |
231095 |
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bone abnormalities can lead to bowing of the legs and difficulty walking. |
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html:p |
Ghosal hematodiaphyseal dysplasia also causes scarring (fibrosis) of the bone |
Orphanet |
1802 |
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marrow, which is the spongy tissue inside long bones where blood cells are |
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formed. The abnormal bone marrow cannot produce enough red blood cells, which |
SNOMED CT |
389214003 |
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leads to anemia.Signs and symptoms of anemia that have been reported in people |
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with Ghosal hematodiaphyseal dysplasia include extremely pale skin (pallor) and |
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excessive tiredness (fatigue). |
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related-gene-list |
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Giant axonal neuropathy |
https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy |
Giant axonal neuropathy is a very rare disorder; only about 50 affected |
html:p |
Giant axonal neuropathy is an inherited condition characterized by abnormally |
ar |
autosomal recessive |
GAN |
https://ghr.nlm.nih.gov/gene/GAN |
GAN |
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2016-09 |
2017-12-29 |
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巨大軸索神經病變 |
families have been described in the medical literature. The condition is thought |
large and dysfunctional axons called giant axons. Axons are specialized |
giant axonal disease |
GTR |
C1850386 |
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to be under-diagnosed because its early symptoms resemble those of other, more |
extensions of nerve cells (neurons) that transmit nerve impulses. Symptoms of |
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common disorders affecting the peripheral nervous system, such as |
the disorder first become apparent in the peripheral nervous system, in which |
GeneReviews |
gan |
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Charcot-Marie-Tooth disease. |
long axons connect the brain and spinal cord (central nervous system) to muscles |
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and to sensory cells that detect sensations such as touch, pain, heat, and |
MeSH |
D056768 |
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sound. However, axons in the central nervous system are affected as well. |
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html:p |
The signs and symptoms of giant axonal neuropathy generally begin in early |
OMIM |
256850 |
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childhood and get worse over time. Most affected individuals first have problems |
db |
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with walking. Later they may lose sensation, strength, and reflexes in their |
Orphanet |
643 |
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limbs; experience difficulty coordinating movements (ataxia); and require |
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wheelchair assistance. Visual and hearing problems may also occur. Many |
SNOMED CT |
128207002 |
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individuals with this condition have extremely kinky hair as compared to others |
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in their family. |
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html:p |
Giant axonal neuropathy can also impact the autonomic nervous system, which |
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controls involuntary body processes. Affected individuals may experience |
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problems with the release of urine (neurogenic bladder), constipation, heat |
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intolerance, and reduction in or loss of the ability to sweat. |
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html:p |
As the disorder worsens, paralysis, seizures, and a gradual decline in mental |
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function (dementia) can also occur. Most people with giant axonal neuropathy do |
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not survive past their twenties. |
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related-gene-list |
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Giant congenital melanocytic nevus, GCMN |
https://ghr.nlm.nih.gov/condition/giant-congenital-melanocytic-nevus |
Giant congenital melanocytic nevus occurs in approximately 1 in 20,000 |
html:p |
Giant congenital melanocytic nevus is a skin condition characterized by an |
n |
not inherited |
BRAF |
https://ghr.nlm.nih.gov/gene/BRAF |
congenital giant pigmented nevus of skin |
db |
key |
2014-12 |
2017-12-29 |
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巨型先天性黑色素痣 |
newborns worldwide. |
abnormally dark, noncancerous skin patch (nevus) that is composed of |
related-gene |
gene-symbol |
ghr-page |
congenital melanocytic nevus syndrome |
GTR |
C1842036 |
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pigment-producing cells called melanocytes. It is present from birth |
NRAS |
https://ghr.nlm.nih.gov/gene/NRAS |
giant congenital melanocytic nevi |
db |
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(congenital) or is noticeable soon after birth. The nevus may be small in |
giant congenital pigmented nevus |
ICD-10-CM |
D22 |
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infants, but it will usually grow at the same rate the body grows and will |
giant pigmented hairy nevus |
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eventually be at least 40 cm (15.75 inches) across. The nevus can appear |
GMN |
MeSH |
D009508 |
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anywhere on the body, but it is more often found on the trunk or limbs. The |
GPHN |
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key |
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color ranges from tan to black and can become darker or lighter over time. The |
OMIM |
137550 |
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surface of a nevus can be flat, rough, raised, thickened, or bumpy; the surface |
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can vary in different regions of the nevus, and it can change over time. The |
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skin of the nevus is often dry and prone to irritation and itching (dermatitis). |
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Excessive hair growth (hypertrichosis) can occur within the nevus. There is |
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often less fat tissue under the skin of the nevus; the skin may appear thinner |
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there than over other areas of the body. |
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People with giant congenital melanocytic nevus may have more than one nevus |
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(plural: nevi). The other nevi are often smaller than the giant nevus. Affected |
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individuals may have one or two additional nevi or multiple small nevi that are |
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scattered over the skin; these are known as satellite or disseminated nevi. |
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Affected individuals may feel anxiety or emotional stress due to the impact the |
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nevus may have on their appearance and their health. Children with giant |
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congenital melanocytic nevus can develop emotional or behavior problems. |
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Some people with giant congenital melanocytic nevus develop a condition called |
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neurocutaneous melanosis, which is the presence of pigment-producing skin cells |
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(melanocytes) in the tissue that covers the brain and spinal cord. These |
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melanocytes may be spread out or grouped together in clusters. Their growth can |
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cause increased pressure in the brain, leading to headache, vomiting, |
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irritability, seizures, and movement problems. Tumors in the brain may also |
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develop. |
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Individuals with giant congenital melanocytic nevus have an increased risk of |
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developing an aggressive form of cancer called melanoma, which arises from |
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melanocytes. Estimates vary, but it is generally thought that people with giant |
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congenital melanocytic nevus have a 5 to 10 percent lifetime risk of developing |
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melanoma. Melanoma commonly begins in the nevus, but it can develop when |
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melanocytes that invade other tissues, such as those in the brain and spinal |
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cord, become cancerous. When melanoma occurs in people with giant congenital |
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melanocytic nevus, the survival rate is low. |
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html:p |
Other types of tumors can also develop in individuals with giant congenital |
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melanocytic nevus, including soft tissue tumors (sarcomas), fatty tumors |
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(lipomas), and tumors of the nerve cells (schwannomas). |
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related-gene-list |
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Gilbert syndrome |
https://ghr.nlm.nih.gov/condition/gilbert-syndrome |
Gilbert syndrome is a common condition that is estimated to affect 3 to 7 |
html:p |
Gilbert syndrome is a relatively mild condition characterized by periods of |
ad |
autosomal dominant |
UGT1A1 |
https://ghr.nlm.nih.gov/gene/UGT1A1 |
constitutional liver dysfunction |
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key |
2012-02 |
2017-12-29 |
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吉伯特氏症候群 |
percent of Americans. |
elevated levels of a toxic substance called bilirubin in the blood |
code |
memo |
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familial nonhemolytic jaundice |
GTR |
C0017551 |
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(hyperbilirubinemia). Bilirubin, which has an orange-yellow tint, is produced |
ar |
autosomal recessive |
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Gilbert disease |
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when red blood cells are broken down. This substance is removed from the body |
Gilbert-Lereboullet syndrome |
ICD-10-CM |
E80.4 |
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only after it undergoes a chemical reaction in the liver, which converts the |
Gilbert's disease |
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toxic form of bilirubin (unconjugated bilirubin) to a nontoxic form called |
Gilbert's syndrome |
MeSH |
D005878 |
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conjugated bilirubin. People with Gilbert syndrome have a buildup of |
hyperbilirubinemia 1 |
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unconjugated bilirubin in their blood (unconjugated hyperbilirubinemia). In |
Meulengracht syndrome |
OMIM |
143500 |
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affected individuals, bilirubin levels fluctuate and very rarely increase to |
unconjugated benign bilirubinemia |
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levels that cause jaundice, which is yellowing of the skin and whites of the |
Orphanet |
357 |
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eyes. |
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html:p |
Gilbert syndrome is usually recognized in adolescence. If people with this |
SNOMED CT |
27503000 |
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condition have episodes of hyperbilirubinemia, these episodes are generally mild |
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and typically occur when the body is under stress, for instance because of |
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dehydration, prolonged periods without food (fasting), illness, vigorous |
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exercise, or menstruation. Some people with Gilbert syndrome also experience |
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abdominal discomfort or tiredness. However, approximately 30 percent of people |
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with Gilbert syndrome have no signs or symptoms of the condition and are |
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discovered only when routine blood tests reveal elevated unconjugated bilirubin |
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levels. |
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related-gene-list |
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Gillespie syndrome |
https://ghr.nlm.nih.gov/condition/gillespie-syndrome |
The prevalence of Gillespie syndrome is unknown. Only a few dozen affected |
html:p |
Gillespie syndrome is a disorder that involves eye abnormalities, problems with |
ad |
autosomal dominant |
PAX6 |
https://ghr.nlm.nih.gov/gene/PAX6 |
aniridia-cerebellar ataxia-intellectual disability |
db |
key |
2014-07 |
2017-12-29 |
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individuals have been described in the medical literature. It has been estimated |
balance and coordinating movements (ataxia), and mild to moderate intellectual |
code |
memo |
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aniridia-cerebellar ataxia-mental deficiency |
GTR |
C0431401 |
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that Gillespie syndrome accounts for about 2 percent of cases of aniridia. |
disability. |
ar |
autosomal recessive |
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aniridia, cerebellar ataxia, and mental retardation |
db |
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html:p |
Gillespie syndrome is characterized by aniridia, which is the absence of the |
partial aniridia-cerebellar ataxia-oligophrenia |
MeSH |
D015783 |
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colored part of the eye (the iris). In most affected individuals, only part of |
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the iris is missing (partial aniridia) in both eyes, but in some affected |
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OMIM |
206700 |
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individuals, partial aniridia affects only one eye, or the entire iris is |
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missing (complete aniridia) in one or both eyes. The absence of all or part of |
Orphanet |
1065 |
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the iris can cause blurry vision (reduced visual acuity) and increased |
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sensitivity to light (photophobia). Rapid, involuntary eye movements (nystagmus) |
SNOMED CT |
253176002 |
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can also occur in Gillespie syndrome. |
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html:p |
The balance and movement problems in Gillespie syndrome result from |
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underdevelopment (hypoplasia) of a part of the brain called the cerebellum. This |
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abnormality can cause delayed development of motor skills such as walking. In |
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addition, difficulty controlling the muscles in the mouth can lead to delayed |
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speech development. The difficulties with coordination generally become |
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noticeable in early childhood when the individual is learning these skills. |
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People with Gillespie syndrome usually continue to have an unsteady gait and |
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speech problems. However, the problems do not get worse over time, and in some |
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cases they improve slightly. |
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html:p |
Other features of Gillespie syndrome can include abnormalities in the bones of |
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the spine (vertebrae) and malformations of the heart. |
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related-gene-list |
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Gitelman syndrome |
https://ghr.nlm.nih.gov/condition/gitelman-syndrome |
Gitelman syndrome affects an estimated 1 in 40,000 people worldwide. |
html:p |
Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms |
ar |
autosomal recessive |
CLCNKB |
https://ghr.nlm.nih.gov/gene/CLCNKB |
familial hypokalemia-hypomagnesemia |
db |
key |
2011-02 |
2017-12-29 |
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Gitelman氏症候群 |
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(ions) in the body, including ions of potassium, magnesium, and calcium. |
related-gene |
gene-symbol |
ghr-page |
Gitelman's syndrome |
GTR |
C0268450 |
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html:p |
The signs and symptoms of Gitelman syndrome usually appear in late childhood or |
SLC12A3 |
https://ghr.nlm.nih.gov/gene/SLC12A3 |
GS |
db |
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adolescence. Common features of this condition include painful muscle spasms |
hypokalemia-hypomagnesemia, primary renotubular, with hypocalciuria |
MeSH |
D053579 |
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(tetany), muscle weakness or cramping, dizziness, and salt craving. Also common |
tubular hypomagnesemia-hypokalemia with hypocalcuria |
db |
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is a tingling or prickly sensation in the skin (paresthesias), most often |
|
OMIM |
263800 |
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affecting the face. Some individuals with Gitelman syndrome experience excessive |
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tiredness (fatigue), low blood pressure, and a painful joint condition called |
Orphanet |
358 |
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chondrocalcinosis. Studies suggest that Gitelman syndrome may also increase the |
db |
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risk of a potentially dangerous abnormal heart rhythm called ventricular |
|
SNOMED CT |
707756004 |
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arrhythmia. |
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html:p |
The signs and symptoms of Gitelman syndrome vary widely, even among affected |
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members of the same family. Most people with this condition have relatively mild |
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symptoms, although affected individuals with severe muscle cramping, paralysis, |
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and slow growth have been reported. |
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related-gene-list |
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Glanzmann thrombasthenia |
https://ghr.nlm.nih.gov/condition/glanzmann-thrombasthenia |
Glanzmann thrombasthenia is estimated to affect 1 in one million |
html:p |
Glanzmann thrombasthenia is a bleeding disorder that is characterized by |
ar |
autosomal recessive |
ITGA2B |
https://ghr.nlm.nih.gov/gene/ITGA2B |
deficiency of glycoprotein complex IIb-IIIa |
db |
key |
2015-09 |
2017-12-29 |
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血小板無力症 |
individuals worldwide, but may be more common in certain groups, including those |
prolonged or spontaneous bleeding starting from birth. People with Glanzmann |
related-gene |
gene-symbol |
ghr-page |
deficiency of platelet fibrinogen receptor |
GTR |
C0040015 |
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of Romani ethnicity, particularly people within the French Manouche community. |
thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and |
ITGB3 |
https://ghr.nlm.nih.gov/gene/ITGB3 |
Glanzmann disease |
db |
key |
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may bleed from the gums. They may also develop red or purple spots on the skin |
Glanzmann-Naegeli disorder |
ICD-10-CM |
D69.1 |
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caused by bleeding underneath the skin (petechiae) or swelling caused by |
glycoprotein IIb/IIIa defect |
db |
key |
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bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause |
hereditary hemorrhagic thrombasthenia |
MeSH |
D013915 |
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prolonged bleeding following injury, trauma, or surgery (including dental work). |
hereditary thrombasthenia |
db |
key |
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Women with this condition can have prolonged and sometimes abnormally heavy |
platelet fibrinogen receptor deficiency |
OMIM |
273800 |
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menstrual bleeding. Affected women also have an increased risk of excessive |
db |
key |
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blood loss during pregnancy and childbirth. |
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Orphanet |
849 |
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html:p |
About a quarter of individuals with Glanzmann thrombasthenia have bleeding in |
db |
key |
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the gastrointestinal tract, which often occurs later in life. Rarely, affected |
|
SNOMED CT |
32942005 |
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individuals have bleeding inside the skull (intracranial hemorrhage) or joints |
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(hemarthrosis). |
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html:p |
The severity and frequency of the bleeding episodes in Glanzmann thrombasthenia |
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can vary greatly among affected individuals, even in the same family. |
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Spontaneous bleeding tends to become less frequent with age. |
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related-gene-list |
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Globozoospermia |
https://ghr.nlm.nih.gov/condition/globozoospermia |
Globozoospermia is a rare condition that is estimated to affect 1 in 65,000 |
html:p |
Globozoospermia is a condition that affects only males. It is characterized by |
ar |
autosomal recessive |
DPY19L2 |
https://ghr.nlm.nih.gov/gene/DPY19L2 |
acrosome malformation of spermatozoa |
db |
key |
2015-04 |
2017-12-29 |
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圆头精子症 |
men. It is most common in North Africa, where it accounts for approximately 1 |
abnormal sperm and leads to an inability to father biological children |
round-headed spermatozoa |
GTR |
C0403825 |
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in 100 cases of male infertility. |
(infertility). |
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spermatogenic failure 9 |
db |
key |
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html:p |
Normal sperm cells have an oval-shaped head with a cap-like covering called the |
MeSH |
D000072660 |
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acrosome. The acrosome contains enzymes that break down the outer membrane of an |
db |
key |
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egg cell, allowing the sperm to fertilize the egg. The sperm cells of males |
OMIM |
613958 |
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with globozoospermia, however, have a round head and no acrosome. The abnormal |
db |
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sperm are unable to fertilize an egg cell, leading to infertility. |
|
Orphanet |
171709 |
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key |
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related-gene-list |
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SNOMED CT |
236818008 |
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Glucose-6-phosphate dehydrogenase deficiency, G6PD deficiency |
https://ghr.nlm.nih.gov/condition/glucose-6-phosphate-dehydrogenase-deficiency |
An estimated 400 million people worldwide have glucose-6-phosphate |
html:p |
Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs |
xr |
X-linked recessive |
G6PD |
https://ghr.nlm.nih.gov/gene/G6PD |
deficiency of glucose-6-phosphate dehydrogenase |
db |
key |
2017-05 |
2017-12-29 |
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葡萄糖-六-磷酸鹽去氫酵素缺乏症 (蠶豆症) |
dehydrogenase deficiency. This condition occurs most frequently in certain parts |
almost exclusively in males. This condition mainly affects red blood cells, |
G6PD deficiency |
GTR |
C0017758 |
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of Africa, Asia, the Mediterranean, and the Middle East. It affects about 1 in |
which carry oxygen from the lungs to tissues throughout the body. In affected |
G6PDD |
db |
key |
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10 African American males in the United States. |
individuals, a defect in an enzyme called glucose-6-phosphate dehydrogenase |
glucose 6 phosphate dehydrogenase deficiency |
ICD-10-CM |
D55.0 |
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causes red blood cells to break down prematurely. This destruction of red blood |
db |
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cells is called hemolysis. |
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MeSH |
D005955 |
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html:p |
The most common medical problem associated with glucose-6-phosphate |
db |
key |
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dehydrogenase deficiency is hemolytic anemia, which occurs when red blood cells |
OMIM |
305900 |
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are destroyed faster than the body can replace them. This type of anemia leads |
db |
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to paleness, yellowing of the skin and whites of the eyes (jaundice), dark |
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Orphanet |
362 |
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urine, fatigue, shortness of breath, and a rapid heart rate. In people with |
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glucose-6-phosphate dehydrogenase deficiency, hemolytic anemia is most often |
SNOMED CT |
124134002 |
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triggered by bacterial or viral infections or by certain drugs (such as some |
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antibiotics and medications used to treat malaria). Hemolytic anemia can also |
SNOMED CT |
62403005 |
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occur after eating fava beans or inhaling pollen from fava plants (a reaction |
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called favism). |
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html:p |
Glucose-6-phosphate dehydrogenase deficiency is also a significant cause of mild |
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to severe jaundice in newborns. Many people with this disorder, however, never |
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experience any signs or symptoms and are unaware that they have the condition. |
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related-gene-list |
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Glucose-galactose malabsorption |
https://ghr.nlm.nih.gov/condition/glucose-galactose-malabsorption |
Glucose-galactose malabsorption is a rare disorder; only a few hundred |
html:p |
Glucose-galactose malabsorption is a condition in which the cells lining the |
ar |
autosomal recessive |
SLC5A1 |
https://ghr.nlm.nih.gov/gene/SLC5A1 |
carbohydrate intolerance |
db |
key |
2007-07 |
2017-12-29 |
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cases have been identified worldwide. However, as many as 10 percent of the |
intestine cannot take in the sugars glucose and galactose, which prevents proper |
complex carbohydrate intolerance |
GTR |
C0268186 |
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population may have a somewhat reduced capacity for glucose absorption without |
digestion of these molecules and larger molecules made from them. |
GGM |
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associated health problems. This condition may be a milder variation of |
html:p |
Glucose and galactose are called simple sugars, or monosaccharides. Sucrose |
monosaccharide malabsorption |
MeSH |
D008286 |
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glucose-galactose malabsorption. |
(table sugar) and lactose (the sugar found in milk) are called disaccharides |
db |
key |
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because they are made from two simple sugars, and are broken down into these |
OMIM |
606824 |
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simple sugars during digestion. Sucrose is broken down into glucose and another |
db |
key |
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simple sugar called fructose, and lactose is broken down into glucose and |
Orphanet |
35710 |
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galactose. As a result, lactose, sucrose and other compounds made from sugar |
db |
key |
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molecules (carbohydrates) cannot be digested by individuals with |
|
SNOMED CT |
190749000 |
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glucose-galactose malabsorption. |
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db |
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html:p |
Glucose-galactose malabsorption generally becomes apparent in the first few |
SNOMED CT |
27943000 |
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weeks of a baby's life. Affected infants experience severe diarrhea resulting in |
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life-threatening dehydration, increased acidity of the blood and tissues |
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(acidosis), and weight loss when fed breast milk or regular infant formulas. |
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However, they are able to digest fructose-based formulas that do not contain |
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glucose or galactose. Some affected children are better able to tolerate glucose |
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and galactose as they get older. |
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html:p |
Small amounts of glucose in the urine (mild glucosuria) may occur intermittently |
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in this disorder. Affected individuals may also develop kidney stones or more |
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widespread deposits of calcium within the kidneys. |
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related-gene-list |
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Glucose phosphate isomerase deficiency |
https://ghr.nlm.nih.gov/condition/glucose-phosphate-isomerase-deficiency |
GPI deficiency is a rare cause of hemolytic anemia; its prevalence is |
html:p |
Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that |
ar |
autosomal recessive |
GPI |
https://ghr.nlm.nih.gov/gene/GPI |
glucose-6-phosphate isomerase deficiency |
db |
key |
2013-12 |
2017-12-29 |
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unknown. About 50 cases have been described in the medical literature. |
affects red blood cells, which carry oxygen to the body's tissues. People with |
glucosephosphate isomerase deficiency |
GTR |
C3150730 |
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this disorder have a condition known as chronic hemolytic anemia, in which red |
GPI deficiency |
db |
key |
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blood cells are broken down (undergo hemolysis) prematurely, resulting in a |
nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency |
GTR |
CN072763 |
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shortage of red blood cells (anemia). Chronic hemolytic anemia can lead to |
db |
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unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme |
MeSH |
D000745 |
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tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate |
|
db |
key |
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(tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the |
OMIM |
613470 |
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blood, and small pebble-like deposits in the gallbladder or bile ducts |
|
db |
key |
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(gallstones) may also occur in this disorder. |
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Orphanet |
712 |
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html:p |
Hemolytic anemia in GPI deficiency can range from mild to severe. In the most |
db |
key |
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severe cases, affected individuals do not survive to birth. Individuals with |
SNOMED CT |
124669001 |
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milder disease can survive into adulthood. People with any level of severity of |
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the disorder can have episodes of more severe hemolysis, called hemolytic |
SNOMED CT |
234404008 |
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crises, which can be triggered by bacterial or viral infections. |
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html:p |
A small percentage of individuals with GPI deficiency also have neurological |
SNOMED CT |
52413004 |
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problems, including intellectual disability and difficulty with coordinating |
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movements (ataxia). |
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related-gene-list |
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GLUT1 deficiency syndrome |
https://ghr.nlm.nih.gov/condition/glut1-deficiency-syndrome |
GLUT1 deficiency syndrome is a rare disorder. Approximately 500 cases have |
html:p |
GLUT1 deficiency syndrome is a disorder affecting the nervous system that can |
ad |
autosomal dominant |
SLC2A1 |
https://ghr.nlm.nih.gov/gene/SLC2A1 |
De Vivo disease |
db |
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2014-03 |
2017-12-29 |
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腦血管屏障葡萄糖輸送缺陷 |
been reported worldwide since the disorder was first identified in 1991. In |
have a variety of neurological signs and symptoms. Approximately 90 percent of |
code |
memo |
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encephalopathy due to GLUT1 deficiency |
GTR |
C1847501 |
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Glucose Transport 1 deficiency syndrome |
Australia, the prevalence of the disorder has been estimated at 1 in 90,000 |
affected individuals have a form of the disorder often referred to as common |
ar |
autosomal recessive |
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G1D |
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people. However, researchers suggest that the disorder may be underdiagnosed, |
GLUT1 deficiency syndrome. These individuals generally have frequent seizures |
glucose transport defect, blood-brain barrier |
GeneReviews |
glut1 |
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because many neurological disorders can cause similar symptoms. |
(epilepsy) beginning in the first months of life. In newborns, the first sign of |
glucose transporter protein syndrome |
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the disorder may be involuntary eye movements that are rapid and irregular. |
glucose transporter type 1 deficiency syndrome |
MeSH |
D020739 |
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Babies with common GLUT1 deficiency syndrome have a normal head size at birth, |
Glut1 deficiency |
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but growth of the brain and skull is often slow, which can result in an |
GLUT1 DS |
OMIM |
606777 |
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abnormally small head size (microcephaly). People with this form of GLUT1 |
GTPS |
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deficiency syndrome may have developmental delay or intellectual disability. |
Orphanet |
71277 |
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Most affected individuals also have other neurological problems, such as |
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stiffness caused by abnormal tensing of the muscles (spasticity), difficulty in |
SNOMED CT |
445252005 |
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coordinating movements (ataxia), and speech difficulties (dysarthria). Some |
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experience episodes of confusion, lack of energy (lethargy), headaches, or |
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muscle twitches (myoclonus), particularly during periods without food (fasting). |
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html:p |
About 10 percent of individuals with GLUT1 deficiency syndrome have a form of |
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the disorder often known as non-epileptic GLUT1 deficiency syndrome, which is |
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usually less severe than the common form. People with the non-epileptic form do |
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not have seizures, but they may still have developmental delay and intellectual |
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disability. Most have movement problems such as ataxia or involuntary tensing of |
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various muscles (dystonia); the movement problems may be more pronounced than |
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in the common form. |
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html:p |
Several conditions that were originally given other names have since been |
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recognized to be variants of GLUT1 deficiency syndrome. These include paroxysmal |
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choreoathetosis with spasticity (dystonia 9); paroxysmal exercise-induced |
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dyskinesia and epilepsy (dystonia 18); and certain types of epilepsy. In rare |
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cases, people with variants of GLUT1 deficiency syndrome produce abnormal red |
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blood cells and have uncommon forms of a blood condition known as anemia, which |
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is characterized by a shortage of red blood cells. |
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related-gene-list |
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Glutamate formiminotransferase deficiency |
https://ghr.nlm.nih.gov/condition/glutamate-formiminotransferase-deficiency |
Glutamate formiminotransferase deficiency is a rare disorder; approximately |
html:p |
Glutamate formiminotransferase deficiency is an inherited disorder that affects |
ar |
autosomal recessive |
FTCD |
https://ghr.nlm.nih.gov/gene/FTCD |
Arakawa syndrome 1 |
db |
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2009-08 |
2017-12-29 |
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20 affected individuals have been identified. Of these, about one-quarter have |
physical and mental development. There are two forms of this condition, which |
FIGLU-uria |
GTR |
C0268609 |
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the severe form of the disorder. Everyone reported with the severe form has been |
are distinguished by the severity of symptoms. |
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formiminoglutamic aciduria |
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of Japanese origin. The remaining individuals, who come from a variety of |
html:p |
People with the mild form of glutamate formiminotransferase deficiency have |
formiminotransferase deficiency |
MeSH |
D008661 |
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ethnic backgrounds, are affected by the mild form of the condition. |
minor delays in physical and mental development and may have mild intellectual |
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disability. They also have unusually high levels of a molecule called |
|
OMIM |
229100 |
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formiminoglutamate (FIGLU) in their urine. |
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html:p |
Individuals affected by the severe form of this disorder have profound |
|
Orphanet |
51208 |
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intellectual disability and delayed development of motor skills such as sitting, |
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standing, and walking. In addition to FIGLU in their urine, they have elevated |
SNOMED CT |
59761008 |
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amounts of certain B vitamins (called folates) in their blood. |
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html:p |
The severe form of glutamate formiminotransferase deficiency is also |
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characterized by megaloblastic anemia. Megaloblastic anemia occurs when a person |
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has a low number of red blood cells (anemia), and the remaining red blood cells |
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are larger than normal (megaloblastic). The symptoms of this blood disorder may |
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include decreased appetite, lack of energy, headaches, pale skin, and tingling |
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or numbness in the hands and feet. |
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related-gene-list |
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Glutaric acidemia type I |
https://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-i |
Glutaric acidemia type I occurs in approximately 1 of every 30,000 to |
html:p |
Glutaric acidemia type I is an inherited disorder in which the body is unable to |
ar |
autosomal recessive |
GCDH |
https://ghr.nlm.nih.gov/gene/GCDH |
GA I |
db |
key |
2007-03 |
2017-12-29 |
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戊二酸血症 第一型 |
40,000 individuals. It is much more common in the Amish community and in the |
process certain proteins properly. People with this disorder have inadequate |
Glutaric acidemia I |
GTR |
C0268595 |
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Ojibwa population of Canada, where up to 1 in 300 newborns may be affected. |
levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, |
Glutaric acidemia type 1 |
db |
key |
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and tryptophan, which are building blocks of protein. Excessive levels of these |
Glutaric aciduria I |
MeSH |
D000592 |
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amino acids and their intermediate breakdown products can accumulate and cause |
Glutaryl-CoA dehydrogenase deficiency |
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damage to the brain, particularly the basal ganglia, which are regions that help |
OMIM |
231670 |
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control movement. Intellectual disability may also occur. |
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html:p |
The severity of glutaric acidemia type I varies widely; some individuals are |
Orphanet |
25 |
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only mildly affected, while others have severe problems. In most cases, signs |
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and symptoms first occur in infancy or early childhood, but in a small number of |
SNOMED CT |
76175005 |
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affected individuals, the disorder first becomes apparent in adolescence or |
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adulthood. |
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html:p |
Some babies with glutaric acidemia type I are born with unusually large heads |
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(macrocephaly). Affected individuals may have difficulty moving and may |
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experience spasms, jerking, rigidity, or decreased muscle tone. Some individuals |
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with glutaric acidemia have developed bleeding in the brain or eyes that could |
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be mistaken for the effects of child abuse. Strict dietary control may help |
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limit progression of the neurological damage. Stress caused by infection, fever |
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or other demands on the body may lead to worsening of the signs and symptoms, |
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with only partial recovery. |
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related-gene-list |
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Glutaric acidemia type II |
https://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii |
Glutaric acidemia type II is a very rare disorder; its precise incidence is |
html:p |
Glutaric acidemia type II is an inherited disorder that interferes with the |
ar |
autosomal recessive |
ETFA |
https://ghr.nlm.nih.gov/gene/ETFA |
electron transfer flavoprotein deficiency |
db |
key |
2014-02 |
2017-12-29 |
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戊二酸血症 第二型 |
unknown. It has been reported in several different ethnic groups. |
body's ability to break down proteins and fats to produce energy. Incompletely |
related-gene |
gene-symbol |
ghr-page |
EMA |
GTR |
C0268596 |
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processed proteins and fats can build up in the body and cause the blood and |
ETFB |
https://ghr.nlm.nih.gov/gene/ETFB |
ETFA deficiency |
db |
key |
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tissues to become too acidic (metabolic acidosis). |
related-gene |
gene-symbol |
ghr-page |
ETFB deficiency |
ICD-10-CM |
E71.313 |
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html:p |
Glutaric acidemia type II usually appears in infancy or early childhood as a |
ETFDH |
https://ghr.nlm.nih.gov/gene/ETFDH |
ETFDH deficiency |
db |
key |
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sudden episode called a metabolic crisis, in which acidosis and low blood sugar |
ethylmalonic-adipicaciduria |
MeSH |
D054069 |
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(hypoglycemia) cause weakness, behavior changes such as poor feeding and |
GA II |
db |
key |
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decreased activity, and vomiting. These metabolic crises, which can be |
glutaric acidemia, type 2 |
OMIM |
231680 |
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life-threatening, may be triggered by common childhood illnesses or other |
glutaric aciduria, type 2 |
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stresses. |
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MAD |
Orphanet |
26791 |
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html:p |
In the most severe cases of glutaric acidemia type II, affected individuals may |
MADD |
db |
key |
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also be born with physical abnormalities. These may include brain malformations, |
multiple acyl-CoA dehydrogenase deficiency |
SNOMED CT |
22886006 |
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an enlarged liver (hepatomegaly), a weakened and enlarged heart (dilated |
multiple FAD dehydrogenase deficiency |
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cardiomyopathy), fluid-filled cysts and other malformations of the kidneys, |
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unusual facial features, and genital abnormalities. Glutaric acidemia type II |
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may also cause a characteristic odor resembling that of sweaty feet. |
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html:p |
Some affected individuals have less severe symptoms that begin later in |
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childhood or in adulthood. In the mildest forms of glutaric acidemia type II, |
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muscle weakness developing in adulthood may be the first sign of the disorder. |
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related-gene-list |
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Glutathione synthetase deficiency |
https://ghr.nlm.nih.gov/condition/glutathione-synthetase-deficiency |
Glutathione synthetase deficiency is very rare. This disorder has been |
html:p |
Glutathione synthetase deficiency is a disorder that prevents the production of |
ar |
autosomal recessive |
GSS |
https://ghr.nlm.nih.gov/gene/GSS |
5-oxoprolinemia |
db |
key |
2015-03 |
2017-12-29 |
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谷胱甘肽合成酶缺乏症 |
described in more than 70 people worldwide. |
an important molecule called glutathione. Glutathione helps prevent damage to |
5-oxoprolinuria |
GTR |
C0398746 |
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cells by neutralizing harmful molecules generated during energy production. |
deficiency of glutathione synthase |
db |
key |
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Glutathione also plays a role in processing medications and cancer-causing |
deficiency of glutathione synthetase |
GTR |
C1856399 |
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compounds (carcinogens), and building DNA, proteins, and other important |
pyroglutamic acidemia |
db |
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cellular components. |
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pyroglutamic aciduria |
MeSH |
D008661 |
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html:p |
Glutathione synthetase deficiency can be classified into three types: mild, |
db |
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moderate, and severe. Mild glutathione synthetase deficiency usually results in |
OMIM |
231900 |
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the destruction of red blood cells (hemolytic anemia). In addition, affected |
db |
key |
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individuals may release large amounts of a compound called 5-oxoproline in their |
OMIM |
266130 |
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urine (5-oxoprolinuria). This compound builds up when glutathione is not |
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key |
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processed correctly in cells. |
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Orphanet |
32 |
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html:p |
Individuals with moderate glutathione synthetase deficiency may experience |
db |
key |
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symptoms beginning shortly after birth including hemolytic anemia, |
SNOMED CT |
124706000 |
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5-oxoprolinuria, and elevated acidity in the blood and tissues (metabolic |
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key |
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acidosis). |
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SNOMED CT |
234589002 |
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html:p |
In addition to the features present in moderate glutathione synthetase |
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db |
key |
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deficiency, individuals affected by the severe form of this disorder may |
|
SNOMED CT |
39112005 |
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experience neurological symptoms. These problems may include seizures; a |
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generalized slowing down of physical reactions, movements, and speech |
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(psychomotor retardation); intellectual disability; and a loss of coordination |
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(ataxia). Some people with severe glutathione synthetase deficiency also develop |
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recurrent bacterial infections. |
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related-gene-list |
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Glycine encephalopathy |
https://ghr.nlm.nih.gov/condition/glycine-encephalopathy |
The worldwide incidence of glycine encephalopathy is unknown. Its |
html:p |
Glycine encephalopathy, which is also known as nonketotic hyperglycinemia or |
ar |
autosomal recessive |
AMT |
https://ghr.nlm.nih.gov/gene/AMT |
Hyperglycinemia, Nonketotic |
db |
key |
2007-04 |
2017-12-29 |
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Nonketotic hyperglycinemia |
frequency has been studied in only a few regions: this condition affects about 1 |
NKH, is a genetic disorder characterized by abnormally high levels of a molecule |
related-gene |
gene-symbol |
ghr-page |
NKH |
GTR |
C0751748 |
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非酮性高甘胺酸血症診斷與治療 |
in 55,000 newborns in Finland and about 1 in 63,000 newborns in British |
called glycine. This molecule is an amino acid, which is a building block of |
GLDC |
https://ghr.nlm.nih.gov/gene/GLDC |
non-ketotic hyperglycinemia |
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Columbia, Canada. |
proteins. Glycine also acts as a neurotransmitter, which is a chemical |
Nonketotic Hyperglycinemia |
GeneReviews |
nkh |
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messenger that transmits signals in the brain. Glycine encephalopathy is caused |
db |
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by the shortage of an enzyme that normally breaks down glycine in the body. A |
ICD-10-CM |
E72.51 |
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lack of this enzyme allows excess glycine to build up in tissues and organs, |
db |
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particularly the brain, leading to serious medical problems. |
|
MeSH |
D020158 |
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html:p |
The most common form of glycine encephalopathy, called the classical type, |
db |
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appears shortly after birth. Affected infants experience a progressive lack of |
OMIM |
605899 |
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energy (lethargy), feeding difficulties, weak muscle tone (hypotonia), abnormal |
db |
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jerking movements, and life-threatening problems with breathing. Most children |
Orphanet |
407 |
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who survive these early signs and symptoms develop profound intellectual |
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disability and seizures that are difficult to treat. For unknown reasons, |
|
SNOMED CT |
237939006 |
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affected males are more likely to survive and have less severe developmental |
db |
key |
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problems than affected females. |
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SNOMED CT |
303092001 |
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html:p |
Researchers have identified several other types of glycine encephalopathy with |
db |
key |
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variable signs and symptoms. The most common of these atypical types is called |
SNOMED CT |
51097006 |
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the infantile form. Children with this condition develop normally until they are |
db |
key |
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about 6 months old, when they experience delayed development and may begin |
SNOMED CT |
63329001 |
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having seizures. As they get older, many develop intellectual disability, |
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abnormal movements, and behavioral problems. Other atypical types of glycine |
SNOMED CT |
67845009 |
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encephalopathy appear later in childhood or adulthood and cause a variety of |
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medical problems that primarily affect the nervous system. |
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html:p |
Rarely, the characteristic features of classical glycine encephalopathy improve |
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with time. These cases are classified as transient glycine encephalopathy. In |
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this form of the condition, glycine levels decrease to normal or near-normal |
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after being very high at birth. Many children with temporarily high glycine |
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levels go on to develop normally and experience few long-term medical problems. |
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Intellectual disability and seizures occur in some affected individuals, |
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however, even after glycine levels decrease. |
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related-gene-list |
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Glycogen storage disease type 0 |
https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-0 |
The prevalence of GSD 0 is unknown; fewer than 10 people with the muscle |
html:p |
Glycogen storage disease type 0 (also known as GSD 0) is a condition caused by |
ar |
autosomal recessive |
GYS1 |
https://ghr.nlm.nih.gov/gene/GYS1 |
glycogen storage disease 0 |
db |
key |
2014-01 |
2017-12-29 |
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肝醣儲積症第零型 |
type and fewer than 30 people with the liver type have been described in the |
the body's inability to form a complex sugar called glycogen, which is a major |
related-gene |
gene-symbol |
ghr-page |
glycogen synthase deficiency |
GTR |
C1855861 |
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scientific literature. Because some people with muscle GSD 0 die from sudden |
source of stored energy in the body. GSD 0 has two types: in muscle GSD 0, |
GYS2 |
https://ghr.nlm.nih.gov/gene/GYS2 |
glycogen synthetase deficiency |
db |
key |
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cardiac arrest early in life before a diagnosis is made and many with liver GSD |
glycogen formation in the muscles is impaired, and in liver GSD 0, glycogen |
GSD 0 |
GTR |
C1969054 |
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0 have mild signs and symptoms, it is thought that GSD 0 may be underdiagnosed. |
formation in the liver is impaired. |
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GSD type 0 |
db |
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html:p |
The signs and symptoms of muscle GSD 0 typically begin in early childhood. |
hypoglycemia with deficiency of glycogen synthetase |
ICD-10-CM |
E74.09 |
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Affected individuals often experience muscle pain and weakness or episodes of |
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fainting (syncope) following moderate physical activity, such as walking up |
MeSH |
D006008 |
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stairs. The loss of consciousness that occurs with fainting typically lasts up |
db |
key |
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to several hours. Some individuals with muscle GSD 0 have a disruption of the |
OMIM |
240600 |
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heart's normal rhythm (arrhythmia) known as long QT syndrome. In all affected |
db |
key |
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individuals, muscle GSD 0 impairs the heart's ability to effectively pump blood |
OMIM |
611556 |
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and increases the risk of cardiac arrest and sudden death, particularly after |
db |
key |
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physical activity. Sudden death from cardiac arrest can occur in childhood or |
Orphanet |
2089 |
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adolescence in people with muscle GSD 0. |
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db |
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html:p |
Individuals with liver GSD 0 usually show signs and symptoms of the disorder in |
Orphanet |
137625 |
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infancy. People with this disorder develop low blood sugar (hypoglycemia) after |
db |
key |
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going long periods of time without food (fasting). Signs of hypoglycemia become |
SNOMED CT |
237964009 |
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apparent when affected infants begin sleeping through the night and stop |
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late-night feedings; these infants exhibit extreme tiredness (lethargy), pale |
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skin (pallor), and nausea. During episodes of fasting, ketone levels in the |
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blood may increase (ketosis). Ketones are molecules produced during the |
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breakdown of fats, which occurs when stored sugars (such as glycogen) are |
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unavailable. These short-term signs and symptoms of liver GSD 0 often improve |
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when food is eaten and sugar levels in the body return to normal. The features |
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of liver GSD 0 vary; they can be mild and go unnoticed for years, or they can |
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include developmental delay and growth failure. |
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related-gene-list |
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Glycogen storage disease type I |
https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i |
The overall incidence of GSDI is 1 in 100,000 individuals. GSDIa is more |
html:p |
Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an |
ar |
autosomal recessive |
G6PC |
https://ghr.nlm.nih.gov/gene/G6PC |
glucose-6-phosphate deficiency |
db |
key |
2015-07 |
2017-12-29 |
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肝醣儲積症第一型 |
common than GSDIb, accounting for 80 percent of all GSDI cases. |
inherited disorder caused by the buildup of a complex sugar called glycogen in |
related-gene |
gene-symbol |
ghr-page |
glucose-6-phosphate transport defect |
GTR |
C0017920 |
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the body's cells. The accumulation of glycogen in certain organs and tissues, |
SLC37A4 |
https://ghr.nlm.nih.gov/gene/SLC37A4 |
GSD I |
db |
key |
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especially the liver, kidneys, and small intestines, impairs their ability to |
GSD type I |
GTR |
C0268146 |
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function normally. |
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hepatorenal form of glycogen storage disease |
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html:p |
Signs and symptoms of this condition typically appear around the age of 3 or 4 |
hepatorenal glycogenosis |
GTR |
CN069618 |
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months, when babies start to sleep through the night and do not eat as |
von Gierke disease |
db |
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frequently as newborns. Affected infants may have low blood sugar |
von Gierke's disease |
GeneReviews |
gsd1 |
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(hypoglycemia), which can lead to seizures. They can also have a buildup of |
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lactic acid in the body (lactic acidosis), high blood levels of a waste product |
ICD-10-CM |
E74.01 |
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called uric acid (hyperuricemia), and excess amounts of fats in the blood |
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(hyperlipidemia). As they get older, children with GSDI have thin arms and legs |
MeSH |
D005953 |
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and short stature. An enlarged liver may give the appearance of a protruding |
db |
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abdomen. The kidneys may also be enlarged. Affected individuals may also have |
OMIM |
232200 |
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diarrhea and deposits of cholesterol in the skin (xanthomas). |
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html:p |
People with GSDI may experience delayed puberty. Beginning in young to |
OMIM |
232220 |
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mid-adulthood, affected individuals may have thinning of the bones |
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(osteoporosis), a form of arthritis resulting from uric acid crystals in the |
|
Orphanet |
364 |
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joints (gout), kidney disease, and high blood pressure in the blood vessels that |
db |
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supply the lungs (pulmonary hypertension). Females with this condition may also |
SNOMED CT |
124437004 |
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have abnormal development of the ovaries (polycystic ovaries). In affected |
db |
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teens and adults, tumors called adenomas may form in the liver. Adenomas are |
SNOMED CT |
30102006 |
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usually noncancerous (benign), but occasionally these tumors can become |
db |
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cancerous (malignant). |
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SNOMED CT |
444707001 |
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html:p |
Researchers have described two types of GSDI, which differ in their signs and |
db |
key |
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symptoms and genetic cause. These types are known as glycogen storage disease |
SNOMED CT |
7265005 |
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type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of |
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GSDI have been described, and they were originally named types Ic and Id. |
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However, these types are now known to be variations of GSDIb; for this reason, |
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GSDIb is sometimes called GSD type I non-a. |
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html:p |
Many people with GSDIb have a shortage of white blood cells (neutropenia), which |
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can make them prone to recurrent bacterial infections. Neutropenia is usually |
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apparent by age 1. Many affected individuals also have inflammation of the |
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intestinal walls (inflammatory bowel disease). People with GSDIb may have oral |
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problems including cavities, inflammation of the gums (gingivitis), chronic gum |
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(periodontal) disease, abnormal tooth development, and open sores (ulcers) in |
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the mouth. The neutropenia and oral problems are specific to people with GSDIb |
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and are typically not seen in people with GSDIa. |
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related-gene-list |
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Glycogen storage disease type III |
https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iii |
The incidence of GSDIII in the United States is 1 in 100,000 individuals. |
html:p |
Glycogen storage disease type III (also known as GSDIII or Cori disease) is an |
ar |
autosomal recessive |
AGL |
https://ghr.nlm.nih.gov/gene/AGL |
AGL deficiency |
db |
key |
2014-12 |
2017-12-29 |
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|
肝醣儲積症第三型 |
This condition is seen more frequently in people of North African Jewish |
inherited disorder caused by the buildup of a complex sugar called glycogen in |
Cori disease |
GTR |
C0017922 |
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ancestry; in this population, 1 in 5,400 individuals are estimated to be |
the body's cells. The accumulated glycogen is structurally abnormal and impairs |
Cori's disease |
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affected.GSDIIIa is the most common form of GSDIII, accounting for about 85 |
the function of certain organs and tissues, especially the liver and muscles. |
debrancher deficiency |
GeneReviews |
gsd3 |
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percent of all cases. GSDIIIb accounts for about 15 percent of cases. GSD types |
html:p |
GSDIII is divided into types IIIa, IIIb, IIIc, and IIId, which are distinguished |
Forbes disease |
db |
key |
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IIIc and IIId are very rare, and their signs and symptoms are poorly defined. |
by their pattern of signs and symptoms. GSD types IIIa and IIIc mainly affect |
glycogen debrancher deficiency |
ICD-10-CM |
E74.03 |
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Only a small number of affected individuals have been suspected to have GSD |
the liver and muscles, and GSD types IIIb and IIId typically affect only the |
GSD III |
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types IIIc and IIId. |
liver. It is very difficult to distinguish between the types of GSDIII that |
GSD3 |
MeSH |
D006010 |
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affect the same tissues. GSD types IIIa and IIIb are the most common forms of |
limit dextrinosis |
db |
key |
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this condition. |
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|
OMIM |
232400 |
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html:p |
Beginning in infancy, individuals with any type of GSDIII may have low blood |
db |
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sugar (hypoglycemia), excess amounts of fats in the blood (hyperlipidemia), and |
Orphanet |
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elevated blood levels of liver enzymes. As they get older, children with this |
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condition typically develop an enlarged liver (hepatomegaly). Liver size usually |
SNOMED CT |
66937008 |
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returns to normal during adolescence, but some affected individuals develop |
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chronic liver disease (cirrhosis) and liver failure later in life. People with |
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GSDIII often have slow growth because of their liver problems, which can lead to |
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short stature. In a small percentage of people with GSDIII, noncancerous |
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(benign) tumors called adenomas may form in the liver. |
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html:p |
Individuals with GSDIIIa may develop muscle weakness (myopathy) later in life. |
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These muscle problems can affect both heart (cardiac) muscle and the muscles |
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that are used for movement (skeletal muscles). Muscle involvement varies greatly |
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among affected individuals. The first signs and symptoms are typically poor |
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muscle tone (hypotonia) and mild myopathy in early childhood. The myopathy may |
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become severe by early to mid-adulthood. Some people with GSDIIIa have a |
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weakened heart muscle (cardiomyopathy), but affected individuals usually do not |
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experience heart failure. Other people affected with GSDIIIa have no cardiac |
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muscle problems. |
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related-gene-list |
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Glycogen storage disease type IV |
https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-iv |
GSD IV is estimated to occur in 1 in 600,000 to 800,000 individuals |
html:p |
Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the |
ar |
autosomal recessive |
GBE1 |
https://ghr.nlm.nih.gov/gene/GBE1 |
amylopectinosis |
db |
key |
2013-02 |
2017-12-29 |
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肝醣儲積症第四型 |
worldwide. Type IV accounts for roughly 3 percent of all cases of glycogen |
buildup of a complex sugar called glycogen in the body's cells. The accumulated |
Andersen disease |
GTR |
C0017923 |
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storage disease. |
glycogen is structurally abnormal and impairs the function of certain organs |
Andersen glycogenosis |
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and tissues, especially the liver and muscles. There are five types of GSD IV, |
Andersen's disease |
GeneReviews |
gsd4 |
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which are distinguished by their severity, signs, and symptoms. |
brancher deficiency |
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html:p |
The fatal perinatal neuromuscular type is the most severe form of GSD IV, with |
branching enzyme deficiency |
ICD-10-CM |
E74.09 |
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signs developing before birth. Excess fluid may build up around the fetus |
glycogen branching enzyme deficiency |
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(polyhydramnios) and in the fetus' body. Affected fetuses have a condition |
glycogen storage disease IV |
MeSH |
D006011 |
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called fetal akinesia deformation sequence, which causes a decrease in fetal |
glycogen storage disease type 4 |
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movement and can lead to joint stiffness (arthrogryposis) after birth. Infants |
glycogenosis 4 |
OMIM |
232500 |
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with the fatal perinatal neuromuscular type of GSD IV have very low muscle tone |
glycogenosis, type IV |
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(severe hypotonia) and muscle wasting (atrophy). These infants usually do not |
GSD IV |
Orphanet |
367 |
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survive past the newborn period due to weakened heart and breathing muscles. |
GSD type IV |
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html:p |
The congenital muscular type of GSD IV is usually not evident before birth but |
GSD4 |
SNOMED CT |
11179002 |
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develops in early infancy. Affected infants have severe hypotonia, which affects |
type IV glycogenosis |
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the muscles needed for breathing. These babies often have dilated |
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SNOMED CT |
124267007 |
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cardiomyopathy, which enlarges and weakens the heart (cardiac) muscle, |
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preventing the heart from pumping blood efficiently. Infants with the congenital |
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muscular type of GSD IV typically survive only a few months. |
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html:p |
The progressive hepatic type is the most common form of GSD IV. Within the first |
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months of life, affected infants have difficulty gaining weight and growing at |
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the expected rate (failure to thrive) and develop an enlarged liver |
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(hepatomegaly). Children with this type develop a form of liver disease called |
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cirrhosis that often is irreversible. High blood pressure in the vein that |
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supplies blood to the liver (portal hypertension) and an abnormal buildup of |
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fluid in the abdominal cavity (ascites) can also occur. By age 1 or 2, affected |
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children develop hypotonia. Children with the progressive hepatic type of GSD IV |
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often die of liver failure in early childhood. |
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html:p |
The non-progressive hepatic type of GSD IV has many of the same features as the |
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progressive hepatic type, but the liver disease is not as severe. In the |
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non-progressive hepatic type, hepatomegaly and liver disease are usually evident |
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in early childhood, but affected individuals typically do not develop |
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cirrhosis. People with this type of the disorder can also have hypotonia and |
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muscle weakness (myopathy). Most individuals with this type survive into |
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adulthood, although life expectancy varies depending on the severity of the |
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signs and symptoms. |
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html:p |
The childhood neuromuscular type of GSD IV develops in late childhood and is |
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characterized by myopathy and dilated cardiomyopathy. The severity of this type |
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of GSD IV varies greatly; some people have only mild muscle weakness while |
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others have severe cardiomyopathy and die in early adulthood. |
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related-gene-list |
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Glycogen storage disease type IX |
https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-ix |
GSD IX that affects the liver is estimated to occur in 1 in 100,000 people. |
html:p |
Glycogen storage disease type IX (also known as GSD IX) is a condition caused by |
ar |
autosomal recessive |
PHKA1 |
https://ghr.nlm.nih.gov/gene/PHKA1 |
GSD IX |
db |
key |
2015-08 |
2017-12-29 |
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肝醣儲積症第九型 |
The forms of the disease that affect muscles or both muscles and liver are much |
the inability to break down a complex sugar called glycogen. The different |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
GSDIX |
GTR |
C0017927 |
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less common, although the prevalence is unknown. |
forms of the condition can affect glycogen breakdown in liver cells or muscle |
xr |
X-linked recessive |
PHKA2 |
https://ghr.nlm.nih.gov/gene/PHKA2 |
PhK deficiency |
db |
key |
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cells or sometimes both. A lack of glycogen breakdown interferes with the normal |
related-gene |
gene-symbol |
ghr-page |
phosphorylase b kinase deficiency |
GTR |
C0543514 |
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function of the affected tissue. |
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PHKB |
https://ghr.nlm.nih.gov/gene/PHKB |
phosphorylase kinase deficiency |
db |
key |
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html:p |
When GSD IX affects the liver, the signs and symptoms typically begin in early |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1845151 |
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childhood. The initial features are usually an enlarged liver (hepatomegaly) and |
PHKG2 |
https://ghr.nlm.nih.gov/gene/PHKG2 |
db |
key |
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slow growth. Affected children are often shorter than normal. During prolonged |
GTR |
C2751643 |
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periods without food (fasting), affected individuals may have low blood sugar |
db |
key |
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(hypoglycemia) or elevated levels of ketones in the blood (ketosis). Ketones are |
GeneReviews |
gsd9 |
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molecules produced during the breakdown of fats, which occurs when stored |
db |
key |
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sugars are unavailable. Affected children may have delayed development of motor |
MeSH |
D006008 |
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skills, such as sitting, standing, or walking, and some have mild muscle |
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key |
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weakness. Puberty is delayed in some adolescents with GSD IX. In the form of the |
OMIM |
261750 |
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condition that affects the liver, the signs and symptoms usually improve with |
db |
key |
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age. Typically, individuals catch up developmentally, and adults reach normal |
OMIM |
300559 |
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height. However, some affected individuals have a buildup of scar tissue |
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db |
key |
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(fibrosis) in the liver, which can rarely progress to irreversible liver disease |
OMIM |
306000 |
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(cirrhosis). |
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db |
key |
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html:p |
GSD IX can affect muscle tissue, although this form of the condition is very |
OMIM |
613027 |
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rare and not well understood. The features of this form of the condition can |
db |
key |
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appear anytime from childhood to adulthood. Affected individuals may experience |
Orphanet |
370 |
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fatigue, muscle pain, and cramps, especially during exercise (exercise |
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db |
key |
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intolerance). Most affected individuals have muscle weakness that worsens over |
Orphanet |
715 |
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time. GSD IX can cause myoglobinuria, which occurs when muscle tissue breaks |
db |
key |
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down abnormally and releases a protein called myoglobin that is excreted in the |
Orphanet |
264580 |
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urine. Myoglobinuria can cause the urine to be red or brown. |
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db |
key |
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html:p |
In a small number of people with GSD IX, the liver and muscles are both |
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Orphanet |
79240 |
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affected. These individuals develop a combination of the features described |
db |
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above, although the muscle problems are usually mild. |
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SNOMED CT |
40191005 |
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related-gene-list |
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Glycogen storage disease type V |
https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-v |
GSDV is a rare disorder; however, its prevalence is unknown. In the |
html:p |
Glycogen storage disease type V (also known as GSDV or McArdle disease) is an |
ar |
autosomal recessive |
PYGM |
https://ghr.nlm.nih.gov/gene/PYGM |
glycogen storage disease type 5 |
db |
key |
2014-06 |
2017-12-29 |
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肝醣儲積症第五型 |
Dallas-Fort Worth area of Texas, where the prevalence of GSDV has been studied, |
inherited disorder caused by an inability to break down a complex sugar called |
glycogenosis 5 |
GTR |
C0017924 |
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the condition is estimated to affect 1 in 100,000 individuals. |
glycogen in muscle cells. A lack of glycogen breakdown interferes with the |
GSD type V |
db |
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function of muscle cells. |
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GSD V |
GeneReviews |
gsd5 |
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html:p |
People with GSDV typically experience fatigue, muscle pain, and cramps during |
McArdle disease |
db |
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the first few minutes of exercise (exercise intolerance). Exercise such as |
McArdle syndrome |
ICD-10-CM |
E74.04 |
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weight lifting or jogging usually triggers these symptoms in affected |
McArdle type glycogen storage disease |
db |
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individuals. The discomfort is generally alleviated with rest. If individuals |
McArdle's disease |
MeSH |
D006012 |
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rest after brief exercise and wait for their pain to go away, they can usually |
muscle glycogen phosphorylase deficiency |
db |
key |
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resume exercising with little or no discomfort (a characteristic phenomenon |
muscle phosphorylase deficiency |
OMIM |
232600 |
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known as "second wind"). |
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myophosphorylase deficiency |
db |
key |
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html:p |
Prolonged or intense exercise can cause muscle damage in people with GSDV. About |
PYGM deficiency |
Orphanet |
368 |
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half of people with GSDV experience breakdown of muscle tissue |
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key |
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(rhabdomyolysis). In severe episodes, the destruction of muscle tissue releases |
SNOMED CT |
55912009 |
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a protein called myoglobin, which is filtered through the kidneys and released |
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in the urine (myoglobinuria). Myoglobin causes the urine to be red or brown. |
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This protein can also damage the kidneys, and it is estimated that half of those |
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individuals with GSDV who have myoglobinuria will develop life-threatening |
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kidney failure. |
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html:p |
The signs and symptoms of GSDV can vary significantly in affected individuals. |
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The features of this condition typically begin in a person's teens or twenties, |
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but they can appear anytime from infancy to adulthood. In most people with GSDV, |
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the muscle weakness worsens over time; however, in about one-third of affected |
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individuals, the muscle weakness is stable. Some people with GSDV experience |
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mild symptoms such as poor stamina; others do not experience any symptoms. |
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related-gene-list |
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Glycogen storage disease type VI |
https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi |
The exact prevalence of GSDVI is unknown. At least 11 cases have been |
html:p |
Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an |
ar |
autosomal recessive |
PYGL |
https://ghr.nlm.nih.gov/gene/PYGL |
GSD type VI |
db |
key |
2010-09 |
2017-12-29 |
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肝醣儲積症第六型 |
reported in the medical literature, although this condition is likely to be |
inherited disorder caused by an inability to break down a complex sugar called |
GSD VI |
GTR |
C0017925 |
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underdiagnosed because it can be difficult to detect in children with mild |
glycogen in liver cells. A lack of glycogen breakdown interferes with the normal |
GSD6 |
db |
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symptoms or adults with no symptoms. GSDVI is more common in the Old Older |
function of the liver. |
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hepatic glycogen phosphorylase deficiency |
GeneReviews |
gsd6 |
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Mennonite population, with an estimated incidence of 1 in 1,000 individuals. |
html:p |
The signs and symptoms of GSDVI typically begin in infancy to early childhood. |
Hers disease |
db |
key |
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The first sign is usually an enlarged liver (hepatomegaly). Affected individuals |
liver phosphorylase deficiency syndrome |
ICD-10-CM |
E74.09 |
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may also have low blood sugar (hypoglycemia) or a buildup of lactic acid in the |
db |
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body (lactic acidosis) during prolonged periods without food (fasting). |
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MeSH |
D006013 |
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html:p |
The signs and symptoms of GSDVI tend to improve with age; most adults with this |
db |
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condition do not have any related health problems. |
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Orphanet |
369 |
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related-gene-list |
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SNOMED CT |
29291001 |
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Glycogen storage disease type VII |
https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vii |
GSDVII is thought to be a rare condition; more than 100 cases have been |
html:p |
Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an |
ar |
autosomal recessive |
PFKM |
https://ghr.nlm.nih.gov/gene/PFKM |
glycogenosis 7 |
db |
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2014-04 |
2017-12-29 |
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肝醣儲積症第七型 |
described in the scientific literature. |
inability to break down a complex sugar called glycogen in muscle cells. A lack |
GSD VII |
GTR |
C0017926 |
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of glycogen breakdown interferes with the function of muscle cells. |
GSD7 |
db |
key |
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html:p |
There are four types of GSDVII. They are differentiated by their signs and |
muscle phosphofructokinase deficiency |
MeSH |
D006014 |
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symptoms and the age at which symptoms first appear. |
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PFKM deficiency |
db |
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html:p |
The classical form of GSDVII is the most common form. Its features usually |
phosphofructokinase deficiency |
OMIM |
232800 |
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appear in childhood. This form is characterized by muscle pain and cramps, often |
Tarui disease |
db |
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following moderate exercise; strenuous exercise can lead to nausea and |
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Orphanet |
371 |
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vomiting. During exercise, muscle tissue can be abnormally broken down, |
db |
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releasing a protein called myoglobin. This protein is processed by the kidneys |
SNOMED CT |
89597008 |
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and released in the urine (myoglobinuria). If untreated, myoglobinuria can |
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damage the kidneys and lead to kidney failure. Some people with the classical |
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form of GSDVII develop high levels of a waste product called uric acid in the |
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blood (hyperuricemia) because the damaged kidneys are unable to remove uric acid |
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effectively. Affected individuals may also have elevated levels of a molecule |
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called bilirubin in the blood that can cause yellowing of the skin and whites of |
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the eyes (jaundice). Individuals with classical GSDVII often have elevated |
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levels of an enzyme called creatine kinase in their blood. This finding is a |
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common indicator of muscle disease. |
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html:p |
Infants with the severe infantile form of GSDVII have low muscle tone |
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(hypotonia) at birth, which leads to muscle weakness (myopathy) that worsens |
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over time. Affected infants have a weakened and enlarged heart (cardiomyopathy) |
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and difficulty breathing normally. Individuals with this form of GSDVII usually |
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do not survive past their first year of life. |
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html:p |
In the late-onset form of GSDVII, myopathy is typically the only feature. The |
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muscle weakness appears in adulthood, although some individuals have difficulty |
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with sustained exercise starting in childhood. The weakness generally affects |
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the muscles closest to the center of the body (proximal muscles). |
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html:p |
The hemolytic form of GSDVII is characterized by hemolytic anemia, in which red |
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blood cells are broken down (undergo hemolysis) prematurely, causing a shortage |
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of red blood cells (anemia). People with the hemolytic form of GSDVII do not |
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experience any signs or symptoms of muscle pain or weakness related to the |
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disorder. |
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related-gene-list |
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Glycoprotein VI deficiency |
https://ghr.nlm.nih.gov/condition/glycoprotein-vi-deficiency |
The prevalence of glycoprotein VI deficiency is unknown. At least 15 cases |
html:p |
Glycoprotein VI deficiency is a bleeding disorder associated with a decreased |
ar |
autosomal recessive |
GP6 |
https://ghr.nlm.nih.gov/gene/GP6 |
BDPLT11 |
db |
key |
2017-04 |
2017-12-29 |
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肝醣儲積症第六型 |
have been described in the scientific literature. |
ability to form blood clots. Normally, blood clots protect the body after an |
bleeding diathesis due to a collagen receptor defect |
MeSH |
D025861 |
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injury by sealing off damaged blood vessels and preventing further blood loss. |
bleeding disorder, platelet-type, 11 |
db |
key |
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Because people with glycoprotein VI deficiency cannot form blood clots normally, |
GP VI deficiency |
OMIM |
614201 |
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they have an increased risk of nosebleeds (epistaxis) and may experience |
db |
key |
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abnormally heavy or prolonged bleeding following minor injury or surgery. In |
Orphanet |
73271 |
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some affected individuals, spontaneous bleeding under the skin causes areas of |
db |
key |
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discoloration (ecchymosis). Women with glycoprotein VI deficiency often have |
SNOMED CT |
234470000 |
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heavy or prolonged menstrual periods (menorrhagia). |
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related-gene-list |
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GM1 gangliosidosis |
https://ghr.nlm.nih.gov/condition/gm1-gangliosidosis |
GM1 gangliosidosis is estimated to occur in 1 in 100,000 to 200,000 |
html:p |
GM1 gangliosidosis is an inherited disorder that progressively destroys nerve |
ar |
autosomal recessive |
GLB1 |
https://ghr.nlm.nih.gov/gene/GLB1 |
beta-galactosidase-1 (GLB1) deficiency |
db |
key |
2013-08 |
2017-12-29 |
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GM1神经节苷脂储积症 |
newborns. Type I is reported more frequently than the other forms of this |
cells (neurons) in the brain and spinal cord. Some researchers classify this |
GTR |
C0085131 |
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condition. Most individuals with type III are of Japanese descent. |
condition into three major types based on the age at which signs and symptoms |
db |
key |
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first appear. Although the three types differ in severity, their features can |
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GTR |
C0268271 |
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overlap significantly. Because of this overlap, other researchers believe that |
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GM1 gangliosidosis represents a continuous disease spectrum instead of three |
GTR |
C0268272 |
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distinct types. |
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html:p |
The signs and symptoms of the most severe form of GM1 gangliosidosis, called |
GTR |
C0268273 |
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type I or the infantile form, usually become apparent by the age of 6 months. |
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Infants with this form of the disorder typically appear normal until their |
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ICD-10-CM |
E75.19 |
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development slows and muscles used for movement weaken. Affected infants |
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eventually lose the skills they had previously acquired (developmentally |
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MeSH |
D016537 |
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regress) and may develop an exaggerated startle reaction to loud noises. As the |
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disease progresses, children with GM1 gangliosidosis type I develop an enlarged |
OMIM |
230500 |
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liver and spleen (hepatosplenomegaly), skeletal abnormalities, seizures, |
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profound intellectual disability, and clouding of the clear outer covering of |
OMIM |
230600 |
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the eye (the cornea). Loss of vision occurs as the light-sensing tissue at the |
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back of the eye (the retina) gradually deteriorates. An eye abnormality called a |
OMIM |
230650 |
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cherry-red spot, which can be identified with an eye examination, is |
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characteristic of this disorder. In some cases, affected individuals have |
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Orphanet |
354 |
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distinctive facial features that are described as "coarse," enlarged gums |
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(gingival hypertrophy), and an enlarged and weakened heart muscle |
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SNOMED CT |
124465002 |
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(cardiomyopathy). Individuals with GM1 gangliosidosis type I usually do not |
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survive past early childhood. |
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SNOMED CT |
18756002 |
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html:p |
Type II GM1 gangliosidosis consists of intermediate forms of the condition, also |
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known as the late infantile and juvenile forms. Children with GM1 |
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SNOMED CT |
238025006 |
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gangliosidosis type II have normal early development, but they begin to develop |
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signs and symptoms of the condition around the age of 18 months (late infantile |
SNOMED CT |
238026007 |
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form) or 5 years (juvenile form). Individuals with GM1 gangliosidosis type II |
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experience developmental regression but usually do not have cherry-red spots, |
SNOMED CT |
238027003 |
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distinctive facial features, or enlarged organs. Type II usually progresses more |
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slowly than type I, but still causes a shortened life expectancy. People with |
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the late infantile form typically survive into mid-childhood, while those with |
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the juvenile form may live into early adulthood. |
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html:p |
The third type of GM1 gangliosidosis is known as the adult or chronic form, and |
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it represents the mildest end of the disease spectrum. The age at which symptoms |
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first appear varies in GM1 gangliosidosis type III, although most affected |
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individuals develop signs and symptoms in their teens. The characteristic |
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features of this type include involuntary tensing of various muscles (dystonia) |
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and abnormalities of the spinal bones (vertebrae). Life expectancy varies among |
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people with GM1 gangliosidosis type III. |
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related-gene-list |
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GM2-gangliosidosis, AB variant |
https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant |
The AB variant is extremely rare; only a few cases have been reported |
html:p |
GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively |
ar |
autosomal recessive |
GM2A |
https://ghr.nlm.nih.gov/gene/GM2A |
AB variant |
db |
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2008-09 |
2017-12-29 |
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GM2神经节苷脂储积症 |
worldwide. |
destroys nerve cells (neurons) in the brain and spinal cord. |
Activator Deficiency/GM2 Gangliosidosis |
GTR |
C0268275 |
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html:p |
Signs and symptoms of the AB variant become apparent in infancy. Infants with |
Activator-deficient Tay-Sachs disease |
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this disorder typically appear normal until the age of 3 to 6 months, when their |
GM2 Activator Deficiency Disease |
MeSH |
D049290 |
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development slows and muscles used for movement weaken. Affected infants lose |
GM2 gangliosidosis, type AB |
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motor skills such as turning over, sitting, and crawling. They also develop an |
Hexosaminidase activator deficiency |
OMIM |
272750 |
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exaggerated startle reaction to loud noises. As the disease progresses, children |
Tay-Sachs Disease, AB Variant |
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with the AB variant experience seizures, vision and hearing loss, intellectual |
Orphanet |
845 |
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disability, and paralysis. An eye abnormality called a cherry-red spot, which |
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can be identified with an eye examination, is characteristic of this disorder. |
SNOMED CT |
71253000 |
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Children with the AB variant usually live only into early childhood. |
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related-gene-list |
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GM3 synthase deficiency |
https://ghr.nlm.nih.gov/condition/gm3-synthase-deficiency |
GM3 synthase deficiency appears to be a rare condition. About 50 cases have |
html:p |
GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and |
ar |
autosomal recessive |
ST3GAL5 |
https://ghr.nlm.nih.gov/gene/ST3GAL5 |
Amish infantile epilepsy syndrome |
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2014-07 |
2017-12-29 |
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been reported, mostly from Old Order Amish communities. |
problems with brain development. Within the first few weeks after birth, |
epilepsy syndrome, infantile-onset symptomatic |
GTR |
C1836824 |
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affected infants become irritable and develop feeding difficulties and vomiting |
ganglioside GM3 synthase deficiency |
db |
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that prevent them from growing and gaining weight at the usual rate. Seizures |
infantile-onset symptomatic epilepsy syndrome |
MeSH |
D004827 |
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begin within the first year of life and worsen over time. Multiple types of |
db |
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seizures are possible, including generalized tonic-clonic seizures (also known |
OMIM |
609056 |
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as grand mal seizures), which cause muscle rigidity, convulsions, and loss of |
db |
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consciousness. Some affected children also experience prolonged episodes of |
Orphanet |
171714 |
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seizure activity called nonconvulsive status epilepticus. The seizures |
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associated with GM3 synthase deficiency tend to be resistant (refractory) to |
Orphanet |
370933 |
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treatment with antiseizure medications. |
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html:p |
GM3 synthase deficiency profoundly disrupts brain development. Most affected |
SNOMED CT |
722762005 |
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children have severe intellectual disability and do not develop skills such as |
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reaching for objects, speaking, sitting without support, or walking. Some have |
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involuntary twisting or jerking movements of the arms that are described as |
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choreoathetoid. Although affected infants can likely see and hear at birth, |
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vision and hearing become impaired as the disease worsens. It is unknown how |
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long people with GM3 synthase deficiency usually survive. |
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html:p |
Some affected individuals have changes in skin coloring (pigmentation), |
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including dark freckle-like spots on the arms and legs and light patches on the |
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arms, legs, and face. These changes appear in childhood and may become more or |
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less apparent over time. The skin changes do not cause any symptoms, but they |
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can help doctors diagnose GM3 synthase deficiency in children who also have |
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seizures and delayed development. |
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related-gene-list |
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Gnathodiaphyseal dysplasia |
https://ghr.nlm.nih.gov/condition/gnathodiaphyseal-dysplasia |
The prevalence of gnathodiaphyseal dysplasia is unknown, but it is thought |
html:p |
Gnathodiaphyseal dysplasia is a disorder that affects the bones. People with |
ad |
autosomal dominant |
ANO5 |
https://ghr.nlm.nih.gov/gene/ANO5 |
GDD |
db |
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2014-12 |
2017-12-29 |
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to be a rare disorder. A few affected individuals and families have been |
this condition have reduced bone mineral density (osteopenia), which causes the |
gnathodiaphyseal sclerosis |
GTR |
C1833736 |
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described in the medical literature. |
bones to be unusually fragile. As a result, affected individuals typically |
Levin syndrome 2 |
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experience multiple bone fractures in childhood, often from mild trauma or with |
osteogenesis imperfecta with unusual skeletal lesions |
MeSH |
D010009 |
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no apparent cause. |
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osteogenesis imperfecta, Levin type |
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html:p |
While most bone tissue is less dense than normal in gnathodiaphyseal dysplasia, |
OMIM |
166260 |
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the outer layer (cortex) of the shafts of the long bones in the arms and legs is |
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abnormally hard and thick (diaphyseal sclerosis). Bowing of the long bones also |
Orphanet |
53697 |
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occurs in this disorder. |
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html:p |
Jaw problems are common in gnathodiaphyseal dysplasia; the prefix "gnatho-" in |
SNOMED CT |
715568002 |
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the condition name refers to the jaw. Affected individuals may develop bone |
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infections (osteomyelitis) in the jaw, which can lead to pain, swelling, |
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discharge of pus from the gums, loose teeth, and slow healing after teeth are |
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lost or extracted. Areas of the jawbone may lose the protective coverage of the |
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gums, which can result in deterioration of the exposed bone (osteonecrosis of |
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the jaw). Also, normal bone in areas of the jaw may be replaced by fibrous |
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tissue and a hard material called cementum, which normally surrounds the roots |
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of teeth and anchors them in the jaw. These areas of abnormal bone, called |
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cementoosseous lesions, may be present at birth or develop later in life. |
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html:p |
When gnathodiaphyseal dysplasia was first described, it was thought to be a |
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variation of another bone disorder called osteogenesis imperfecta, which is also |
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characterized by frequent bone fractures. However, gnathodiaphyseal dysplasia |
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is now generally considered to be a separate condition. Unlike in osteogenesis |
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imperfecta, the fractures in gnathodiaphyseal dysplasia heal normally without |
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causing deformity or loss of height. |
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related-gene-list |
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Gordon Holmes syndrome |
https://ghr.nlm.nih.gov/condition/gordon-holmes-syndrome |
Gordon Holmes syndrome is a rare condition. Its prevalence is unknown. |
html:p |
Gordon Holmes syndrome is a rare condition characterized by reproductive and |
ar |
autosomal recessive |
PNPLA6 |
https://ghr.nlm.nih.gov/gene/PNPLA6 |
cerebellar ataxia and hypogonadotropic hypogonadism |
db |
key |
2017-07 |
2017-12-29 |
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neurological problems. One of the key features of the condition is reduced |
related-gene |
gene-symbol |
ghr-page |
deficiency of luteinizing hormone-releasing hormone with ataxia |
GTR |
C1859305 |
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production of hormones that direct sexual development (hypogonadotropic |
RNF216 |
https://ghr.nlm.nih.gov/gene/RNF216 |
LHRH deficiency and ataxia |
db |
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hypogonadism). Many affected individuals have a delay in development of the |
MeSH |
D002526 |
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typical signs of puberty, such as the growth of facial hair and deepening of the |
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voice in males, and the start of monthly periods (menstruation) and breast |
MeSH |
D007006 |
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development in females. Some never undergo puberty. While some people with |
db |
key |
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Gordon Holmes syndrome seem to have normal puberty, they develop other problems |
OMIM |
212840 |
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with the reproductive system later in life. |
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html:p |
In early adulthood, individuals with Gordon Holmes syndrome develop neurological |
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problems, usually beginning with speech difficulties (dysarthria). As the |
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condition worsens, affected individuals have problems with balance and |
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coordination (cerebellar ataxia), often leading to difficulties with activities |
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of daily living and a need for wheelchair assistance. Some affected individuals |
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also develop memory problems and a decline in intellectual function (dementia). |
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related-gene-list |
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Gorlin syndrome |
https://ghr.nlm.nih.gov/condition/gorlin-syndrome |
Gorlin syndrome affects an estimated 1 in 31,000 people. While more than 1 |
html:p |
Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a |
ad |
autosomal dominant |
PTCH1 |
https://ghr.nlm.nih.gov/gene/PTCH1 |
basal cell nevus syndrome |
db |
key |
2012-10 |
2017-12-29 |
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戈林症候群 |
million new cases of basal cell carcinoma are diagnosed each year in the United |
condition that affects many areas of the body and increases the risk of |
BCNS |
GTR |
C0004779 |
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nevoid basal cell carcinoma syndrome |
States, fewer than 1 percent of these skin cancers are related to Gorlin |
developing various cancerous and noncancerous tumors. |
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Gorlin-Goltz syndrome |
db |
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基底細胞痣癌症候群 |
syndrome. |
html:p |
In people with Gorlin syndrome, the type of cancer diagnosed most often is basal |
NBCCS |
GeneReviews |
bcns |
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(Cancer) |
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cell carcinoma, which is the most common form of skin cancer. Individuals with |
nevoid basal cell carcinoma syndrome |
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Gorlin syndrome typically begin to develop basal cell carcinomas during |
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MeSH |
D001478 |
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adolescence or early adulthood. These cancers occur most often on the face, |
db |
key |
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chest, and back. The number of basal cell carcinomas that develop during a |
OMIM |
109400 |
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person's lifetime varies among affected individuals. Some people with Gorlin |
db |
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syndrome never develop any basal cell carcinomas, while others may develop |
Orphanet |
377 |
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thousands of these cancers. Individuals with lighter skin are more likely to |
db |
key |
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develop basal cell carcinomas than are people with darker skin. |
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SNOMED CT |
69408002 |
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html:p |
Most people with Gorlin syndrome also develop noncancerous (benign) tumors of |
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the jaw, called keratocystic odontogenic tumors. These tumors usually first |
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appear during adolescence, and new tumors form until about age 30. Keratocystic |
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odontogenic tumors rarely develop later in adulthood. If untreated, these tumors |
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may cause painful facial swelling and tooth displacement. |
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html:p |
Individuals with Gorlin syndrome have a higher risk than the general population |
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of developing other tumors. A small proportion of affected individuals develop a |
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brain tumor called medulloblastoma during childhood. A type of benign tumor |
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called a fibroma can occur in the heart or in a woman's ovaries. Heart (cardiac) |
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fibromas often do not cause any symptoms, but they may obstruct blood flow or |
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cause irregular heartbeats (arrhythmia). Ovarian fibromas are not thought to |
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affect a woman's ability to have children (fertility). |
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html:p |
Other features of Gorlin syndrome include small depressions (pits) in the skin |
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of the palms of the hands and soles of the feet; an unusually large head size |
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(macrocephaly) with a prominent forehead; and skeletal abnormalities involving |
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the spine, ribs, or skull. These signs and symptoms are typically apparent from |
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birth or become evident in early childhood. |
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related-gene-list |
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GRACILE syndrome |
https://ghr.nlm.nih.gov/condition/gracile-syndrome |
GRACILE syndrome is found almost exclusively in Finland, where it is |
html:p |
GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands |
ar |
autosomal recessive |
BCS1L |
https://ghr.nlm.nih.gov/gene/BCS1L |
Fellman syndrome |
db |
key |
2014-03 |
2017-12-29 |
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GRACILE綜合症 |
estimated to affect 1 in 47,000 infants. At least 32 affected infants have been |
for the condition's characteristic features: growth retardation, aminoaciduria, |
Finnish lactic acidosis with hepatic hemosiderosis |
GTR |
C1864002 |
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described in the medical literature. |
cholestasis, iron overload, lactic acidosis, and early death. |
Finnish lethal neonatal metabolic syndrome |
db |
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html:p |
In GRACILE syndrome, growth before birth is slow (intrauterine growth |
growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, |
MeSH |
D008661 |
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retardation). Affected newborns are smaller than average and have an inability |
and early death |
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to grow and gain weight at the expected rate (failure to thrive). A |
|
OMIM |
603358 |
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characteristic of GRACILE syndrome is excess iron in the liver, which likely |
db |
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begins before birth. Iron levels may begin to improve after birth, although they |
Orphanet |
53693 |
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typically remain elevated. Within the first day of life, infants with GRACILE |
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syndrome have a buildup of a chemical called lactic acid in the body (lactic |
SNOMED CT |
703388005 |
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acidosis). They also have kidney problems that lead to an excess of molecules |
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called amino acids in the urine (aminoaciduria). Babies with GRACILE syndrome |
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have cholestasis, which is a reduced ability to produce and release a digestive |
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fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis) |
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in the first few months of life. |
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html:p |
Because of the severe health problems caused by GRACILE syndrome, infants with |
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this condition do not survive for more than a few months, and about half die |
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within a few days of birth. |
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related-gene-list |
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Grange syndrome |
https://ghr.nlm.nih.gov/condition/grange-syndrome |
Grange syndrome has been reported to affect at least six individuals from |
html:p |
Grange syndrome is a rare condition that primarily affects the blood vessels. It |
ar |
autosomal recessive |
YY1AP1 |
https://ghr.nlm.nih.gov/gene/YY1AP1 |
arterial occlusive disease, progressive, with hypertension, heart defects, bone |
db |
key |
2017-07 |
2017-12-29 |
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three families. |
is characterized by narrowing (stenosis) or blockage (occlusion) of arteries |
fragility, and brachysyndactyly |
GTR |
C1865267 |
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that supply blood to various organs and tissues, including the kidneys, brain, |
Grange occlusive arterial syndrome |
db |
key |
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and heart. Stenosis or occlusion of the arteries that supply blood to the |
GRNG |
MeSH |
D001157 |
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kidneys (renal arteries) can result in chronic high blood pressure |
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db |
key |
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(hypertension). Blockage of the arteries that carry blood to the brain (cerebral |
MeSH |
D006330 |
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arteries) can cause a stroke. |
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db |
key |
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html:p |
Additional features of Grange syndrome can include short fingers and toes |
OMIM |
602531 |
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(brachydactyly), fusion of some of the fingers or toes (syndactyly), fragile |
db |
key |
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bones that are prone to breakage, and learning disabilities. Most people with |
Orphanet |
79094 |
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this disorder also have heart defects that are present from birth. |
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related-gene-list |
|
SNOMED CT |
717824007 |
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Granulomatosis with polyangiitis |
https://ghr.nlm.nih.gov/condition/granulomatosis-with-polyangiitis |
GPA is a rare disorder that affects an estimated 3 in 100,000 people in the |
html:p |
Granulomatosis with polyangiitis (GPA) is a condition that causes inflammation |
u |
pattern unknown |
HLA-DPB1 |
https://ghr.nlm.nih.gov/gene/HLA-DPB1 |
GPA |
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2013-07 |
2017-12-29 |
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肉芽腫併多發性血管炎 |
United States. |
that primarily affects the respiratory tract (including the lungs and airways) |
Wegener granulomatosis |
GTR |
C0043092 |
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and the kidneys. This disorder is also commonly known as Wegener granulomatosis. |
Wegener's granulomatosis |
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A characteristic feature of GPA is inflammation of blood vessels (vasculitis), |
ICD-10-CM |
M31.3 |
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particularly the small- and medium-sized blood vessels in the lungs, nose, |
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sinuses, windpipe, and kidneys, although vessels in any organ can be involved. |
ICD-10-CM |
M31.30 |
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Polyangiitis refers to the inflammation of multiple types of vessels, such as |
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small arteries and veins. Vasculitis causes scarring and tissue death in the |
ICD-10-CM |
M31.31 |
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vessels and impedes blood flow to tissues and organs. |
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html:p |
Another characteristic feature of GPA is the formation of granulomas, which are |
MeSH |
D014890 |
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small areas of inflammation composed of immune cells that aid in the |
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inflammatory reaction. The granulomas usually occur in the lungs or airways of |
OMIM |
608710 |
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people with this condition, although they can occur in the eyes or other organs. |
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As granulomas grow, they can invade surrounding areas, causing tissue damage. |
Orphanet |
900 |
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html:p |
The signs and symptoms of GPA vary based on the tissues and organs affected by |
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vasculitis. Many people with this condition experience a vague feeling of |
|
SNOMED CT |
195353004 |
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discomfort (malaise), fever, weight loss, or other general symptoms of the |
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body's immune reaction. In most people with GPA, inflammation begins in the |
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vessels of the respiratory tract, leading to nasal congestion, frequent |
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nosebleeds, shortness of breath, or coughing. Severe inflammation in the nose |
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can lead to a hole in the tissue that separates the two nostrils (nasal septum |
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perforation) or a collapse of the septum, causing a sunken bridge of the nose |
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(saddle nose). |
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html:p |
The kidneys are commonly affected in people with GPA. Tissue damage caused by |
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vasculitis in the kidneys can lead to decreased kidney function, which may cause |
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increased blood pressure or blood in the urine, and life-threatening kidney |
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failure. Inflammation can also occur in other regions of the body, including the |
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eyes, middle and inner ear structures, skin, joints, nerves, heart, and brain. |
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Depending on which systems are involved, additional symptoms can include skin |
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rashes, inner ear pain, swollen and painful joints, and numbness or tingling in |
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the limbs. |
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html:p |
GPA is most common in middle-aged adults, although it can occur at any age. If |
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untreated, the condition is usually fatal within 2 years of diagnosis. Even |
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after treatment, vasculitis can return. |
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related-gene-list |
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Graves disease |
https://ghr.nlm.nih.gov/condition/graves-disease |
Graves disease affects about 1 in 200 people. The disease occurs more often |
html:p |
Graves disease is a condition that affects the function of the thyroid, which is |
u |
pattern unknown |
CD40 |
https://ghr.nlm.nih.gov/gene/CD40 |
autoimmune hyperthyroidism |
db |
key |
2013-07 |
2017-12-29 |
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葛瑞夫茲病 |
in women than in men, which may be related to hormonal factors. Graves disease |
a butterfly-shaped gland in the lower neck. The thyroid makes hormones that |
related-gene |
gene-symbol |
ghr-page |
Basedow disease |
GTR |
C0018213 |
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is the most common cause of thyroid overactivity (hyperthyroidism) in the United |
help regulate a wide variety of critical body functions. For example, thyroid |
CTLA4 |
https://ghr.nlm.nih.gov/gene/CTLA4 |
Basedow's disease |
db |
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States. |
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hormones influence growth and development, body temperature, heart rate, |
related-gene |
gene-symbol |
ghr-page |
exophthalmic goiter |
GTR |
C1841794 |
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menstrual cycles, and weight. In people with Graves disease, the thyroid is |
HLA-DRB1 |
https://ghr.nlm.nih.gov/gene/HLA-DRB1 |
Graves' disease |
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overactive and makes more hormones than the body needs. The condition usually |
related-gene |
gene-symbol |
ghr-page |
toxic diffuse goiter |
GTR |
C1863923 |
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appears in mid-adulthood, although it may occur at any age. |
IL2RA |
https://ghr.nlm.nih.gov/gene/IL2RA |
db |
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html:p |
Excess thyroid hormones can cause a variety of signs and symptoms. These include |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2678151 |
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nervousness or anxiety, extreme tiredness (fatigue), a rapid and irregular |
PTPN22 |
https://ghr.nlm.nih.gov/gene/PTPN22 |
db |
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heartbeat, hand tremors, frequent bowel movements or diarrhea, increased |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
E05.0 |
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sweating and difficulty tolerating hot conditions, trouble sleeping, and weight |
SCGB3A2 |
https://ghr.nlm.nih.gov/gene/SCGB3A2 |
db |
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loss in spite of an increased appetite. Affected women may have menstrual |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
E05.00 |
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irregularities, such as an unusually light menstrual flow and infrequent |
TG |
https://ghr.nlm.nih.gov/gene/TG |
db |
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periods. Some people with Graves disease develop an enlargement of the thyroid |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
E05.01 |
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called a goiter. Depending on its size, the enlarged thyroid can cause the neck |
TSHR |
https://ghr.nlm.nih.gov/gene/TSHR |
db |
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to look swollen and may interfere with breathing and swallowing. |
|
MeSH |
D006111 |
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html:p |
Between 25 and 50 percent of people with Graves disease have eye abnormalities, |
db |
key |
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which are known as Graves ophthalmopathy. These eye problems can include |
OMIM |
275000 |
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swelling and inflammation, redness, dryness, puffy eyelids, and a gritty |
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db |
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sensation like having sand or dirt in the eyes. Some people develop bulging of |
OMIM |
300351 |
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the eyes caused by inflammation of tissues behind the eyeball and "pulling back" |
db |
key |
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(retraction) of the eyelids. Rarely, affected individuals have more serious eye |
OMIM |
603388 |
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problems, such as pain, double vision, and pinching (compression) of the optic |
db |
key |
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nerve connecting the eye and the brain, which can cause vision loss. |
SNOMED CT |
353295004 |
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html:p |
A small percentage of people with Graves disease develop a skin abnormality |
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called pretibial myxedema or Graves dermopathy. This abnormality causes the skin |
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on the front of the lower legs and the tops of the feet to become thick, lumpy, |
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and red. It is not usually painful. |
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related-gene-list |
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Gray platelet syndrome |
https://ghr.nlm.nih.gov/condition/gray-platelet-syndrome |
Gray platelet syndrome appears to be a rare disorder. About 60 cases have |
html:p |
Gray platelet syndrome is a bleeding disorder associated with abnormal |
ad |
autosomal dominant |
NBEAL2 |
https://ghr.nlm.nih.gov/gene/NBEAL2 |
BDPLT4 |
db |
key |
2014-09 |
2017-12-29 |
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been reported worldwide. |
platelets, which are blood cell fragments involved in blood clotting. People |
code |
memo |
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bleeding disorder, platelet-type, 4 |
GTR |
C0272302 |
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with this condition tend to bruise easily and have an increased risk of |
ar |
autosomal recessive |
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deficient alpha granule syndrome |
db |
key |
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nosebleeds (epistaxis). They may also experience abnormally heavy or extended |
GPS |
ICD-10-CM |
D69.1 |
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bleeding following surgery, dental work, or minor trauma. Women with gray |
grey platelet syndrome |
db |
key |
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platelet syndrome often have irregular, heavy periods (menometrorrhagia). These |
platelet alpha-granule deficiency |
MeSH |
D055652 |
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bleeding problems are usually mild to moderate, but they have been |
platelet alpha granule deficiency |
db |
key |
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life-threatening in a few affected individuals. |
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platelet granule defect |
OMIM |
139090 |
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html:p |
A condition called myelofibrosis, which is a buildup of scar tissue (fibrosis) |
db |
key |
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in the bone marrow, is another common feature of gray platelet syndrome. Bone |
Orphanet |
721 |
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marrow is the spongy tissue in the center of long bones that produces most of |
db |
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the blood cells the body needs, including platelets. The scarring associated |
SNOMED CT |
51720005 |
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with myelofibrosis damages bone marrow, preventing it from making enough blood |
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cells. Other organs, particularly the spleen, start producing more blood cells |
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to compensate; this process often leads to an enlarged spleen (splenomegaly). |
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related-gene-list |
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Greenberg dysplasia |
https://ghr.nlm.nih.gov/condition/greenberg-dysplasia |
Greenberg dysplasia is a very rare condition. Approximately ten cases have |
html:p |
Greenberg dysplasia is a severe condition characterized by specific bone |
ar |
autosomal recessive |
LBR |
https://ghr.nlm.nih.gov/gene/LBR |
chondrodystrophy, hydropic and prenatally lethal type |
db |
key |
2012-02 |
2017-12-29 |
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been reported in the scientific literature. |
abnormalities in the developing fetus. This condition is fatal before birth. |
Greenberg skeletal dysplasia |
GTR |
C1300226 |
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html:p |
The bones of affected individuals do not develop properly, causing a distinctive |
HEM dysplasia |
db |
key |
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spotted appearance called moth-eaten bone, which is visible on x-ray images. In |
HEM skeletal dysplasia |
MeSH |
D010009 |
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addition, the bones have abnormal calcium deposits (ectopic calcification). |
hydrops - ectopic calcification - moth-eaten skeletal dysplasia |
db |
key |
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Affected individuals have extremely short bones in the arms and legs and |
moth-eaten skeletal dysplasia |
OMIM |
215140 |
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abnormally flat vertebrae (platyspondyly). Other skeletal abnormalities may |
db |
key |
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include short ribs and extra fingers (polydactyly). In addition, affected |
|
Orphanet |
1426 |
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fetuses have extensive swelling of the body caused by fluid accumulation |
db |
key |
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(hydrops fetalis). Greenberg dysplasia is also called hydrops-ectopic |
|
SNOMED CT |
389261002 |
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calcification-moth-eaten skeletal dysplasia (HEM), which reflects the |
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condition's most common features. |
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related-gene-list |
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Greig cephalopolysyndactyly syndrome |
https://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome |
This condition is very rare; its prevalence is unknown. |
html:p |
Greig cephalopolysyndactyly syndrome is a disorder that affects development of |
ad |
autosomal dominant |
GLI3 |
https://ghr.nlm.nih.gov/gene/GLI3 |
cephalopolysyndactyly syndrome |
db |
key |
2016-11 |
2017-12-29 |
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the limbs, head, and face. The features of this syndrome are highly variable, |
related-chromosome |
name |
ghr-page |
GCPS |
GTR |
C0265306 |
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ranging from very mild to severe. People with this condition typically have one |
7 |
https://ghr.nlm.nih.gov/chromosome/7 |
db |
key |
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or more extra fingers or toes (polydactyly) or an abnormally wide thumb or big |
GeneReviews |
gcps |
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toe (hallux). The skin between the fingers and toes may be fused (cutaneous |
db |
key |
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syndactyly). This disorder is also characterized by widely spaced eyes (ocular |
MeSH |
D017689 |
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hypertelorism), an abnormally large head size (macrocephaly), and a high, |
db |
key |
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prominent forehead. Rarely, affected individuals may have more serious medical |
OMIM |
175700 |
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problems including seizures, delayed development, and intellectual disability. |
db |
key |
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Orphanet |
380 |
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db |
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related-gene-list |
|
SNOMED CT |
32985001 |
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Griscelli syndrome |
https://ghr.nlm.nih.gov/condition/griscelli-syndrome |
Griscelli syndrome is a rare condition; its prevalence is unknown. Type 2 |
html:p |
Griscelli syndrome is an inherited condition characterized by unusually light |
ar |
autosomal recessive |
MLPH |
https://ghr.nlm.nih.gov/gene/MLPH |
GS |
db |
key |
2013-09 |
2017-12-29 |
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格里塞利綜合症 |
appears to be the most common of the three known types. |
(hypopigmented) skin and light silvery-gray hair starting in infancy. |
related-gene |
gene-symbol |
ghr-page |
hypopigmentation immunodeficiency disease |
GTR |
C1836573 |
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Researchers have identified three types of this disorder, which are |
MYO5A |
https://ghr.nlm.nih.gov/gene/MYO5A |
partial albinism with immunodeficiency |
db |
key |
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distinguished by their genetic cause and pattern of signs and symptoms. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1859194 |
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html:p |
Griscelli syndrome type 1 involves severe problems with brain function in |
RAB27A |
https://ghr.nlm.nih.gov/gene/RAB27A |
db |
key |
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addition to the distinctive skin and hair coloring. Affected individuals |
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GTR |
C1868679 |
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typically have delayed development, intellectual disability, seizures, weak |
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muscle tone (hypotonia), and eye and vision abnormalities. Another condition |
MeSH |
D017496 |
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called Elejalde disease has many of the same signs and symptoms, and some |
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researchers have proposed that Griscelli syndrome type 1 and Elejalde disease |
OMIM |
214450 |
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are actually the same disorder. |
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html:p |
People with Griscelli syndrome type 2 have immune system abnormalities in |
OMIM |
256710 |
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addition to having hypopigmented skin and hair. Affected individuals are prone |
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to recurrent infections. They also develop an immune condition called |
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OMIM |
607624 |
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hemophagocytic lymphohistiocytosis (HLH), in which the immune system produces |
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too many activated immune cells called T-lymphocytes and macrophages |
OMIM |
609227 |
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(histiocytes). Overactivity of these cells can damage organs and tissues |
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throughout the body, causing life-threatening complications if the condition is |
Orphanet |
381 |
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untreated. People with Griscelli syndrome type 2 do not have the neurological |
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abnormalities of type 1. |
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SNOMED CT |
37548006 |
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html:p |
Unusually light skin and hair coloring are the only features of Griscelli |
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syndrome type 3. People with this form of the disorder do not have neurological |
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abnormalities or immune system problems. |
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inheritance-pattern-list |
related-gene-list |
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GRN-related frontotemporal dementia |
https://ghr.nlm.nih.gov/condition/grn-related-frontotemporal-dementia |
GRN-related frontotemporal dementia affects an estimated 3 to 15 per |
html:p |
GRN-related frontotemporal dementia is a progressive brain disorder that can affect behavior, language, and movement. |
ad |
autosomal dominant |
GRN |
synonym |
db-key |
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2010-09 |
2017-12-29 |
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GRN-關連額顳葉型失智症 |
100,000 people aged 45 to 64. This condition accounts for 5 to 10 percent of all |
The symptoms of this disorder usually become noticeable in a person's fifties or sixties, |
synonym |
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GTR |
C1843792 |
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cases of frontotemporal dementia. |
and affected people typically survive 6 to 7 years after the appearance of symptoms. |
synonym |
db-key |
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However, the features of this condition vary significantly, |
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synonym |
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GeneReviews |
ftd-grn |
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even among affected members of the same family. |
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synonym |
db-key |
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synonym |
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MeSH |
D057180 |
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html:p |
Behavioral changes are the most common early signs of GRN-related |
synonym |
db-key |
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frontotemporal dementia. These include marked changes in personality, judgment, |
synonym |
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OMIM |
607485 |
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and insight. It may become difficult for affected individuals to interact with others in |
synonym |
db-key |
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a socially appropriate manner. Affected people may also become easily distracted and |
synonym |
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Orphanet |
282 |
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unable to complete tasks. They increasingly require help with personal care and other activities of daily living. |
synonym |
db-key |
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html:p |
Many people with GRN-related frontotemporal dementia develop progressive problems |
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SNOMED CT |
702426001 |
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with speech and language (aphasia). Affected individuals may have trouble speaking, |
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remembering words and names (dysnomia), and understanding speech. Over time, they may completely lose the ability to communicate. |
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html:p |
Some people with GRN-related frontotemporal dementia also develop |
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movement disorders, such as parkinsonism and corticobasal syndrome. The signs |
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and symptoms of these disorders include tremors, rigidity, unusually slow movement |
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(bradykinesia), involuntary muscle spasms (myoclonus), uncontrolled muscle tensing (dystonia), |
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and an inability to carry out purposeful movements (apraxia). |
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related-gene-list |
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Guanidinoacetate methyltransferase deficiency |
https://ghr.nlm.nih.gov/condition/guanidinoacetate-methyltransferase-deficiency |
Guanidinoacetate methyltransferase deficiency is a very rare disorder. |
html:p |
Guanidinoacetate methyltransferase deficiency is an inherited disorder that |
ar |
autosomal recessive |
GAMT |
https://ghr.nlm.nih.gov/gene/GAMT |
creatine deficiency syndrome due to GAMT deficiency |
db |
key |
2015-06 |
2017-12-29 |
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胍基乙酸甲基轉移酶缺乏症 |
About 80 affected individuals have been described in the medical literature. Of |
primarily affects the brain and muscles. Without early treatment, people with |
deficiency of guanidinoacetate methyltransferase |
GTR |
C0574080 |
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these, approximately one-third are of Portuguese origin. |
this disorder have neurological problems that are usually severe. These problems |
GAMT deficiency |
db |
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include intellectual disability, speech development limited to a few words, and |
GeneReviews |
creatine |
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recurrent seizures (epilepsy). Affected individuals may also exhibit autistic |
db |
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behaviors that affect communication and social interaction or self-injurious |
MeSH |
D008661 |
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behaviors such as head-banging. Other features of this disorder can include |
db |
key |
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involuntary movements (extrapyramidal dysfunction) such as tremors or facial |
OMIM |
612736 |
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tics. |
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html:p |
People with guanidinoacetate methyltransferase deficiency may have weak muscle |
Orphanet |
382 |
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tone and delayed development of motor skills such as sitting or walking. In |
db |
key |
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severe cases they may lose previously acquired skills such as the ability to |
SNOMED CT |
124239003 |
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support their head or to sit unsupported. |
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related-gene-list |
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Guillain-Barré syndrome |
https://ghr.nlm.nih.gov/condition/guillain-barre-syndrome |
The prevalence of Guillain-Barré syndrome is estimated to be 6 to 40 cases |
html:p |
Guillain-Barré syndrome is an autoimmune disorder that affects the nerves. |
u |
pattern unknown |
TNF |
https://ghr.nlm.nih.gov/gene/TNF |
acute infectious polyneuritis |
db |
key |
2011-09 |
2017-12-29 |
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格林-巴利综合征 |
per 1 million people. The occurrence of the different types of Guillain-Barré |
Autoimmune disorders occur when the immune system malfunctions and attacks the |
acute inflammatory polyneuropathy |
GTR |
C1841700 |
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syndrome varies across regions. AIDP is the most common type in North America |
body's own tissues and organs. In Guillain-Barré syndrome, the immune response |
Fisher syndrome |
db |
key |
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and Europe, accounting for approximately 90 percent of cases of Guillain-Barré |
damages peripheral nerves, which are the nerves that connect the central nervous |
GBS |
ICD-10-CM |
G61.0 |
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syndrome in those regions. AMAN and AMSAN together account for 30 to 50 percent |
system (the brain and spinal cord) to the limbs and organs. Specifically, the |
Guillain-Barre syndrome |
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of cases in Asian countries and Latin America but only 3 to 5 percent of cases |
immune response affects a particular part of peripheral nerves called axons, |
Landry-Guillain-Barre syndrome |
ICD-10-CM |
G65.0 |
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in North America and Europe. Miller Fisher syndrome is also more common in Asian |
which are the extensions of nerve cells (neurons) that transmit nerve impulses. |
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countries, accounting for approximately 20 percent of cases in these countries |
Guillain-Barré syndrome can affect the neurons that control muscle movement |
MeSH |
D020275 |
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but less than 5 percent in North America and Europe. |
(motor neurons); the neurons that transmit sensory signals such as pain, |
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temperature, and touch (sensory neurons); or both. As a result, affected |
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OMIM |
139393 |
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individuals can experience muscle weakness or lose the ability to feel certain |
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sensations. |
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Orphanet |
2103 |
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html:p |
Muscle weakness or paralysis are the characteristic features of Guillain-Barré |
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syndrome. The weakness often begins in the legs and spreads to the arms, torso, |
Orphanet |
98916 |
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and face and is commonly accompanied by numbness, tingling, or pain. Additional |
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signs and symptoms of the condition include difficulty swallowing and difficulty |
Orphanet |
98917 |
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breathing. Occasionally, the nerves that control involuntary functions of the |
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body such as blood pressure and heart rate are affected, which can lead to |
Orphanet |
98918 |
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fluctuating blood pressure or an abnormal heartbeat (cardiac arrhythmia). |
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html:p |
There are several types of Guillain-Barré syndrome, classified by the part of |
SNOMED CT |
40956001 |
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the peripheral nerve involved in the condition. The most common type of |
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Guillain-Barré syndrome is acute inflammatory demyelinating |
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polyradiculoneuropathy (AIDP). In AIDP, the immune response damages myelin, |
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which is the covering that protects axons and promotes the efficient |
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transmission of nerve impulses. In two other types of Guillain-Barré syndrome, |
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acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy |
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(AMSAN), the axons themselves are damaged by the immune response. In AMAN, only |
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the axons of motor neurons are damaged. In AMSAN, the axons of sensory neurons |
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are also damaged. Because of sensory nerve damage, affected individuals can lose |
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the ability to sense the position of their limbs and can have abnormal or |
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absent reflexes (areflexia). |
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html:p |
Miller Fisher syndrome, another type of Guillain-Barré syndrome, involves |
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cranial nerves, which extend from the brain to various areas of the head and |
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neck. Miller Fisher syndrome is characterized by three features: weakness or |
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paralysis of the muscles that move the eyes (ophthalmoplegia), problems with |
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balance and coordination (ataxia), and areflexia. People with this condition can |
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have other signs and symptoms common in Guillain-Barré syndrome, such as muscle |
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weakness. |
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html:p |
Guillain-Barré syndrome occurs in people of all ages. The development of the |
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condition usually follows a pattern. Prior to developing the condition, most |
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people with Guillain-Barré syndrome have a bacterial or viral infection. The |
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first phase of Guillain-Barré syndrome, during which signs and symptoms of the |
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condition worsen, can last up to four weeks, although the peak of the illness is |
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usually reached in one to two weeks. During the second phase, called the |
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plateau, signs and symptoms of Guillain-Barré syndrome stabilize. This phase can |
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last weeks or months. During the recovery phase, symptoms improve. However, |
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some people with Guillain-Barré syndrome never fully recover and can still |
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experience excessive tiredness (fatigue), muscle weakness, or muscle pain. |
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related-gene-list |
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Gyrate atrophy of the choroid and retina |
https://ghr.nlm.nih.gov/condition/gyrate-atrophy-of-the-choroid-and-retina |
More than 150 individuals with gyrate atrophy have been identified; |
html:p |
Gyrate atrophy of the choroid and retina, which is often shortened to gyrate |
ar |
autosomal recessive |
OAT |
https://ghr.nlm.nih.gov/gene/OAT |
gyrate atrophy |
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2009-08 |
2017-12-29 |
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(Vision) |
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approximately one third are from Finland. |
atrophy, is an inherited disorder characterized by progressive vision loss. |
HOGA |
GTR |
C0599035 |
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People with this disorder have an ongoing loss of cells (atrophy) in the retina, |
hyperornithinemia with gyrate atrophy of choroid and retina |
db |
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which is the specialized light-sensitive tissue that lines the back of the eye, |
OAT deficiency |
ICD-10-CM |
H31.23 |
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and in a nearby tissue layer called the choroid. During childhood, they begin |
OKT deficiency |
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experiencing nearsightedness (myopia), difficulty seeing in low light (night |
ornithine aminotransferase deficiency |
MeSH |
D015799 |
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blindness), and loss of side (peripheral) vision. Over time, their field of |
ornithine-delta-aminotransferase deficiency |
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vision continues to narrow, resulting in tunnel vision. Many people with gyrate |
ornithine keto acid aminotransferase deficiency |
OMIM |
258870 |
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atrophy also develop clouding of the lens of the eyes (cataracts). These |
Ornithinemia with gyrate atrophy |
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progressive vision changes lead to blindness by about the age of 50. |
Orphanet |
414 |
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html:p |
Most people with gyrate atrophy have no symptoms other than vision loss, but |
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some have additional features of the disorder. Occasionally, newborns with |
SNOMED CT |
314467007 |
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gyrate atrophy develop excess ammonia in the blood (hyperammonemia), which may |
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lead to poor feeding, vomiting, seizures, or coma. Neonatal hyperammonemia |
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associated with gyrate atrophy generally responds quickly to treatment and does |
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not recur after the newborn period. |
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Gyrate atrophy usually does not affect intelligence; however, abnormalities may |
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be observed in brain imaging or other neurological testing. In some cases, mild |
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to moderate intellectual disability is associated with gyrate atrophy. |
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Gyrate atrophy may also cause disturbances in the nerves connecting the brain |
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and spinal cord to muscles and sensory cells (peripheral nervous system). In |
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some people with the disorder these abnormalities lead to numbness, tingling, or |
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pain in the hands or feet, while in others they are detectable only by |
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electrical testing of the nerve impulses. |
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In some people with gyrate atrophy, a particular type of muscle fibers (type II |
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fibers) break down over time. While this muscle abnormality usually causes no |
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symptoms, it may result in mild weakness. |
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related-gene-list |
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Hajdu-Cheney syndrome |
https://ghr.nlm.nih.gov/condition/hajdu-cheney-syndrome |
Hajdu-Cheney syndrome is a rare disease; its prevalence is unknown. Fewer |
html:p |
Hajdu-Cheney syndrome is a rare disorder that can affect many parts of the body, |
ad |
autosomal dominant |
NOTCH2 |
https://ghr.nlm.nih.gov/gene/NOTCH2 |
acroosteolysis dominant type |
db |
key |
2015-02 |
2017-12-29 |
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than 100 affected individuals have been described in the medical literature. |
particularly the bones. Loss of bone tissue from the hands and feet |
acroosteolysis with osteoporosis and changes in skull and mandible |
GTR |
C0917715 |
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(acro-osteolysis) is a characteristic feature of the condition. The fingers and |
arthro-dento-osteo dysplasia |
db |
key |
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toes are short and broad, and they may become shorter over time as bone at the |
arthrodentoosteodysplasia |
MeSH |
D031845 |
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tips continues to break down. Bone loss in the fingers can interfere with fine |
Cheney syndrome |
db |
key |
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motor skills, such as picking up small objects. |
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cranioskeletal dysplasia with acro-osteolysis |
OMIM |
102500 |
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html:p |
Bone abnormalities throughout the body are common in Hajdu-Cheney syndrome. |
familial osteodysplasia |
db |
key |
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Affected individuals develop osteoporosis, which causes the bones to be brittle |
hereditary osteodysplasia with acro-osteolysis |
Orphanet |
955 |
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and prone to fracture. Many affected individuals experience breakage |
HJCYS |
db |
key |
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(compression fractures) of the spinal bones (vertebrae). Some also develop |
serpentine fibula-polycystic kidney syndrome |
SNOMED CT |
63122002 |
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abnormal curvature of the spine (scoliosis or kyphosis). Hajdu-Cheney syndrome |
SFPKS |
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also affects the shape and strength of the long bones in the arms and legs. The |
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abnormalities associated with this condition lead to short stature. |
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html:p |
Hajdu-Cheney syndrome also causes abnormalities of the skull bones, including |
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the bones of the face. The shape of the skull is often described as |
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dolichocephalic, which means it is elongated from back to front. In many |
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affected individuals, the bone at the back of the skull bulges outward, causing |
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a bump called a prominent occiput. Distinctive facial features associated with |
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this condition include widely spaced and downward-slanting eyes, eyebrows that |
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grow together in the middle (synophrys), low-set ears, a sunken appearance of |
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the middle of the face (midface hypoplasia), and a large space between the nose |
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and upper lip (a long philtrum). Some affected children are born with an opening |
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in the roof of the mouth called a cleft palate or with a high arched palate. In |
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affected adults, the facial features are often described as "coarse." |
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html:p |
Other features of Hajdu-Cheney syndrome found in some affected individuals |
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include joint abnormalities, particularly an unusually large range of joint |
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movement (hypermobility); dental problems; hearing loss; a deep, gravelly voice; |
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excess body hair; recurrent infections in childhood; heart defects; and kidney |
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abnormalities such as the growth of multiple fluid-filled cysts (polycystic |
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kidneys). Some people with this condition have delayed development in childhood, |
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but the delays are usually mild. |
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html:p |
The most serious complications of Hajdu-Cheney syndrome, which occur in about |
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half of all affected individuals, are abnormalities known as platybasia and |
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basilar invagination. Platybasia is a flattening of the base of the skull caused |
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by thinning and softening of the skull bones. Basilar invagination occurs when |
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the softened bones allow part of the spine to protrude abnormally through the |
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opening at the bottom of the skull, pushing into the lower parts of the brain. |
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These abnormalities can lead to severe neurological problems, including |
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headaches, abnormal vision and balance, a buildup of fluid in the brain |
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(hydrocephalus), abnormal breathing, and sudden death. |
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html:p |
The signs and symptoms of Hajdu-Cheney syndrome vary greatly among affected |
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individuals, even among members of the same family. Many of the disorder's |
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features, such as acro-osteolysis and some of the characteristic facial |
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features, are not present at birth but become apparent in childhood or later. |
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The risk of developing platybasia and basilar invagination also increases over |
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time. |
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html:p |
The features of Hajdu-Cheney syndrome overlap significantly with those of a |
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condition called serpentine fibula-polycystic kidney syndrome (SFPKS). Although |
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they used to be considered separate disorders, researchers discovered that the |
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two conditions are associated with mutations in the same gene. Based on these |
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similarities, many researchers now consider Hajdu-Cheney syndrome and SFPKS to |
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be variants of the same condition. |
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related-gene-list |
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Hand-foot-genital syndrome |
https://ghr.nlm.nih.gov/condition/hand-foot-genital-syndrome |
Hand-foot-genital syndrome is very rare; only a few families with the |
html:p |
Hand-foot-genital syndrome is a rare condition that affects the development of |
ad |
autosomal dominant |
HOXA13 |
https://ghr.nlm.nih.gov/gene/HOXA13 |
Hand-foot-uterus syndrome |
db |
key |
2008-04 |
2017-12-29 |
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condition have been reported worldwide. |
the hands and feet, the urinary tract, and the reproductive system. People with |
HFG syndrome |
GTR |
C1841679 |
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this condition have abnormally short thumbs and first (big) toes, small fifth |
HFGS |
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fingers that curve inward (clinodactyly), short feet, and fusion or delayed |
HFU syndrome |
GeneReviews |
hfg |
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hardening of bones in the wrists and ankles. The other bones in the arms and |
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legs are normal. |
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MeSH |
D005532 |
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html:p |
Abnormalities of the genitals and urinary tract can vary among affected |
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individuals. Many people with hand-foot-genital syndrome have defects in the |
MeSH |
D006228 |
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ureters, which are tubes that carry urine from each kidney to the bladder, or in |
db |
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the urethra, which carries urine from the bladder to the outside of the body. |
MeSH |
D014564 |
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Recurrent urinary tract infections and an inability to control the flow of urine |
db |
key |
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(urinary incontinence) have been reported. About half of males with this |
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OMIM |
140000 |
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disorder have the urethra opening on the underside of the penis (hypospadias). |
db |
key |
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html:p |
People with hand-foot-genital syndrome are usually able to have children |
Orphanet |
2438 |
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(fertile). In some affected females, problems in the early development of the |
db |
key |
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uterus can later increase the risk of pregnancy loss, premature labor, and |
SNOMED CT |
702425002 |
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stillbirth. |
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related-gene-list |
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Harlequin ichthyosis |
https://ghr.nlm.nih.gov/condition/harlequin-ichthyosis |
Harlequin ichthyosis is very rare; its exact incidence is unknown. |
html:p |
Harlequin ichthyosis is a severe genetic disorder that mainly affects the skin. |
ar |
autosomal recessive |
ABCA12 |
https://ghr.nlm.nih.gov/gene/ABCA12 |
Harlequin baby syndrome |
db |
key |
2008-11 |
2017-12-29 |
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斑色魚鱗癬 |
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Infants with this condition are born with very hard, thick skin covering most |
HI |
GTR |
C0239849 |
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(skin) |
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of their bodies. The skin forms large, diamond-shaped plates that are separated |
Ichthyosis Congenita, Harlequin Fetus Type |
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by deep cracks (fissures). These skin abnormalities affect the shape of the |
GeneReviews |
li-ar |
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eyelids, nose, mouth, and ears, and limit movement of the arms and legs. |
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Restricted movement of the chest can lead to breathing difficulties and |
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ICD-10-CM |
Q80.4 |
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respiratory failure. |
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db |
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html:p |
The skin normally forms a protective barrier between the body and its |
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MeSH |
D016113 |
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surrounding environment. The skin abnormalities associated with harlequin |
db |
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ichthyosis disrupt this barrier, making it more difficult for affected infants |
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OMIM |
242500 |
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to control water loss, regulate their body temperature, and fight infections. |
db |
key |
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Infants with harlequin ichthyosis often experience an excessive loss of fluids |
Orphanet |
457 |
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(dehydration) and develop life-threatening infections in the first few weeks of |
db |
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life. It used to be very rare for affected infants to survive the newborn |
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SNOMED CT |
205548006 |
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period. However, with intensive medical support and improved treatment, people |
db |
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with this disorder now have a better chance of living into childhood and |
SNOMED CT |
268245001 |
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adolescence. |
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related-gene-list |
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Hartnup disease |
https://ghr.nlm.nih.gov/condition/hartnup-disease |
Hartnup disease is estimated to affect 1 in 30,000 individuals. |
html:p |
Hartnup disease is a condition caused by the body's inability to absorb certain |
ar |
autosomal recessive |
SLC6A19 |
https://ghr.nlm.nih.gov/gene/SLC6A19 |
Hartnup disorder |
db |
key |
2016-05 |
2017-12-29 |
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哈勒普氏病 |
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protein building blocks (amino acids) from the diet. As a result, affected |
Hartnup's disease |
GTR |
C0018609 |
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individuals are not able to use these amino acids to produce other substances, |
neutral amino acid transport defect |
db |
key |
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such as vitamins and proteins. Most people with Hartnup disease are able to get |
ICD-10-CM |
E72.02 |
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the vitamins and other substances they need with a well-balanced diet. |
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html:p |
People with Hartnup disease have high levels of various amino acids in their |
MeSH |
D006250 |
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urine (aminoaciduria). For most affected individuals, this is the only sign of |
db |
key |
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the condition. However, some people with Hartnup disease have episodes during |
OMIM |
234500 |
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which they exhibit other signs, which can include skin rashes; difficulty |
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db |
key |
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coordinating movements (cerebellar ataxia); and psychiatric symptoms, such as |
Orphanet |
2116 |
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depression or psychosis. These episodes are typically temporary and are often |
db |
key |
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triggered by illness, stress, nutrient-poor diet, or fever. These features tend |
SNOMED CT |
80902009 |
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to go away once the trigger is remedied, although the aminoaciduria remains. In |
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affected individuals, signs and symptoms most commonly occur in childhood. |
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related-gene-list |
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Hartsfield syndrome |
https://ghr.nlm.nih.gov/condition/hartsfield-syndrome |
Hartsfield syndrome appears to be a rare disorder. Fewer than 20 cases have |
html:p |
Hartsfield syndrome is a rare condition characterized by holoprosencephaly, |
ad |
autosomal dominant |
FGFR1 |
https://ghr.nlm.nih.gov/gene/FGFR1 |
Hartsfield-Bixler-Demyer syndrome |
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key |
2016-10 |
2017-12-29 |
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Holoprosencephaly |
been reported in the medical literature. For unknown reasons, most of the |
which is an abnormality of brain development, and a malformation of the hands |
code |
memo |
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HHES |
GTR |
C1845146 |
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前腦發育畸形症 |
people who have been diagnosed with this disorder are male. |
and feet called ectrodactyly. |
ar |
autosomal recessive |
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holoprosencephaly and split hand/foot syndrome |
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html:p |
During early development before birth, the brain normally divides into two |
holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate |
GeneReviews |
hartsfield |
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halves, the right and left hemispheres. Holoprosencephaly occurs when the brain |
holoprosencephaly, hypertelorism, and ectrodactyly syndrome |
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fails to divide properly. In the most severe forms of holoprosencephaly, the |
MeSH |
D006228 |
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brain does not divide at all. These affected individuals have one central eye |
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(cyclopia) and a tubular nasal structure (proboscis) located above the eye. Most |
MeSH |
D016142 |
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babies with severe holoprosencephaly die before birth or soon after. In less |
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severe cases of holoprosencephaly, the brain is partially divided. The life |
OMIM |
615465 |
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expectancy of these affected individuals depends on the severity of signs and |
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symptoms. |
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Orphanet |
2117 |
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html:p |
People with Hartsfield syndrome often have other brain abnormalities associated |
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with holoprosencephaly. Affected individuals may have a malfunctioning |
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pituitary, which is a gland located at the base of the brain that produces |
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several hormones. Because pituitary dysfunction leads to the partial or complete |
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absence of these hormones, it can cause a variety of disorders. These include |
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diabetes insipidus, which disrupts the balance between fluid intake and urine |
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excretion; a shortage (deficiency) of growth hormone, leading to slow or delayed |
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growth; and hypogonadotropic hypogonadism, which affects the production of |
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hormones that direct sexual development. Dysfunction in other parts of the brain |
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can cause seizures, feeding difficulties, and problems regulating body |
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temperature and sleep patterns. People with Hartsfield syndrome have delayed |
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development that ranges from mild to severe. |
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html:p |
The other hallmark feature of Hartsfield syndrome is ectrodactyly. Ectrodactyly |
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is a deep split in the hands, feet, or both, with missing fingers or toes and |
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partial fusion of the remaining digits. It can affect the hands and feet on one |
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or both sides. Other features that have been described in people with Hartsfield |
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syndrome include premature fusion of certain bones of the skull |
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(craniosynostosis), heart defects, abnormalities of the bones of the spine |
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(vertebrae), and abnormal genitalia. Some affected individuals have distinctive |
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facial features, including eyes that are widely spaced (hypertelorism) or |
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closely spaced (hypotelorism), ears that are abnormally small or unusually |
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shaped, and a split in the lip (cleft lip) with or without an opening in the |
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roof of the mouth (cleft palate). |
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related-gene-list |
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Hashimoto thyroiditis |
https://ghr.nlm.nih.gov/condition/hashimoto-thyroiditis |
Hashimoto thyroiditis affects 1 to 2 percent of people in the United |
html:p |
Hashimoto thyroiditis is a condition that affects the function of the thyroid, |
u |
pattern unknown |
CTLA4 |
https://ghr.nlm.nih.gov/gene/CTLA4 |
autoimmune chronic lymphocytic thyroiditis |
db |
key |
2013-07 |
2017-12-29 |
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橋本氏甲狀腺炎 |
States. It occurs more often in women than in men, which may be related to |
which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones |
related-gene |
gene-symbol |
ghr-page |
autoimmune thyroiditis |
GTR |
C0677607 |
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hormonal factors. The condition is the most common cause of thyroid |
that help regulate a wide variety of critical body functions. For example, |
HLA-DRB1 |
https://ghr.nlm.nih.gov/gene/HLA-DRB1 |
chronic lymphocytic thyroiditides |
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underactivity (hypothyroidism) in the United States. |
thyroid hormones influence growth and development, body temperature, heart rate, |
related-gene |
gene-symbol |
ghr-page |
chronic lymphocytic thyroiditis |
ICD-10-CM |
E06.3 |
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menstrual cycles, and weight. Hashimoto thyroiditis is a form of chronic |
TG |
https://ghr.nlm.nih.gov/gene/TG |
Hashimoto disease |
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inflammation that can damage the thyroid, reducing its ability to produce |
Hashimoto struma |
MeSH |
D050031 |
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hormones. |
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Hashimoto syndrome |
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html:p |
One of the first signs of Hashimoto thyroiditis is an enlargement of the thyroid |
Hashimoto's disease |
OMIM |
140300 |
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called a goiter. Depending on its size, the enlarged thyroid can cause the neck |
lymphocytic thyroiditis |
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to look swollen and may interfere with breathing and swallowing. As damage to |
Orphanet |
855 |
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the thyroid continues, the gland can shrink over a period of years and the |
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goiter may eventually disappear. |
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SNOMED CT |
21983002 |
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html:p |
Other signs and symptoms resulting from an underactive thyroid can include |
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excessive tiredness (fatigue), weight gain or difficulty losing weight, hair |
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that is thin and dry, a slow heart rate, joint or muscle pain, and constipation. |
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People with this condition may also have a pale, puffy face and feel cold even |
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when others around them are warm. Affected women can have heavy or irregular |
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menstrual periods and difficulty conceiving a child (impaired fertility). |
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Difficulty concentrating and depression can also be signs of a shortage of |
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thyroid hormones. |
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html:p |
Hashimoto thyroiditis usually appears in mid-adulthood, although it can occur |
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earlier or later in life. Its signs and symptoms tend to develop gradually over |
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months or years. |
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related-gene-list |
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Head and neck squamous cell carcinoma |
https://ghr.nlm.nih.gov/condition/head-and-neck-squamous-cell-carcinoma |
HNSCC is the seventh most common cancer worldwide. Approximately 600,000 |
html:p |
Squamous cell carcinoma is a cancer that arises from particular cells called |
n |
not inherited |
CDKN2A |
https://ghr.nlm.nih.gov/gene/CDKN2A |
HNSCC |
db |
key |
2015-01 |
2017-12-29 |
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頭頸部鳞状细胞癌 |
new cases are diagnosed each year, including about 50,000 in the United States. |
squamous cells. Squamous cells are found in the outer layer of skin and in the |
related-gene |
gene-symbol |
ghr-page |
SCCHN |
GTR |
C1168401 |
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HNSCC occurs most often in men in their 50s or 60s, although the incidence among |
mucous membranes, which are the moist tissues that line body cavities such as |
FAT1 |
https://ghr.nlm.nih.gov/gene/FAT1 |
squamous cell carcinoma of the head and neck |
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key |
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younger individuals is increasing. |
the airways and intestines. Head and neck squamous cell carcinoma (HNSCC) |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D002294 |
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develops in the mucous membranes of the mouth, nose, and throat. |
HRAS |
https://ghr.nlm.nih.gov/gene/HRAS |
db |
key |
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html:p |
HNSCC is classified by its location: it can occur in the mouth (oral cavity), |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D006258 |
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the middle part of the throat near the mouth (oropharynx), the space behind the |
NOTCH1 |
https://ghr.nlm.nih.gov/gene/NOTCH1 |
db |
key |
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nose (nasal cavity and paranasal sinuses), the upper part of the throat near the |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
275355 |
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nasal cavity (nasopharynx), the voicebox (larynx), or the lower part of the |
PIK3CA |
https://ghr.nlm.nih.gov/gene/PIK3CA |
db |
key |
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throat near the larynx (hypopharynx). Depending on the location, the cancer can |
related-gene |
gene-symbol |
ghr-page |
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Orphanet |
67037 |
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cause abnormal patches or open sores (ulcers) in the mouth and throat, unusual |
PTEN |
https://ghr.nlm.nih.gov/gene/PTEN |
db |
key |
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bleeding or pain in the mouth, sinus congestion that does not clear, sore |
related-gene |
gene-symbol |
ghr-page |
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SNOMED CT |
405822008 |
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throat, earache, pain when swallowing or difficulty swallowing, a hoarse voice, |
TP53 |
https://ghr.nlm.nih.gov/gene/TP53 |
db |
key |
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difficulty breathing, or enlarged lymph nodes. |
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SNOMED CT |
408649007 |
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html:p |
HNSCC can spread (metastasize) to other parts of the body, such as the lymph |
db |
key |
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nodes or lungs. If it spreads, the cancer has a worse prognosis and can be |
SNOMED CT |
419842002 |
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fatal. About half of affected individuals survive more than five years after |
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diagnosis. |
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Hemochromatosis |
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血鐵沉積症(血色素沉著病) |
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related-gene-list |
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Hemophilia |
https://ghr.nlm.nih.gov/condition/hemophilia |
The two major forms of hemophilia occur much more commonly in males than in |
html:p |
Hemophilia is a bleeding disorder that slows the blood clotting process. People |
xr |
X-linked recessive |
F8 |
https://ghr.nlm.nih.gov/gene/F8 |
Hemophilia, familial |
db |
key |
2012-08 |
2017-12-29 |
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血友病 |
|
females. Hemophilia A is the most common type of the condition; 1 in 4,000 to 1 |
with this condition experience prolonged bleeding or oozing following an injury, |
related-gene |
gene-symbol |
ghr-page |
Hemophilia, hereditary |
GTR |
C0008533 |
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in 5,000 males worldwide are born with this disorder. Hemophilia B occurs in |
surgery, or having a tooth pulled. In severe cases of hemophilia, continuous |
F9 |
https://ghr.nlm.nih.gov/gene/F9 |
db |
key |
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approximately 1 in 20,000 newborn males worldwide. |
bleeding occurs after minor trauma or even in the absence of injury (spontaneous |
GTR |
C0019069 |
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bleeding). Serious complications can result from bleeding into the joints, |
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hemophilia A=Factor VIII deficiency |
muscles, brain, or other internal organs. Milder forms of hemophilia do not |
GTR |
C0684275 |
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(Blood) |
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necessarily involve spontaneous bleeding, and the condition may not become |
db |
key |
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apparent until abnormal bleeding occurs following surgery or a serious injury. |
GTR |
CN043453 |
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html:p |
The major types of this condition are hemophilia A (also known as classic |
db |
key |
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hemophilia B=Factor IX deficiency |
hemophilia or factor VIII deficiency) and hemophilia B (also known as Christmas |
GeneReviews |
hemo-a |
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(Blood) |
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disease or factor IX deficiency). Although the two types have very similar signs |
db |
key |
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and symptoms, they are caused by mutations in different genes. People with an |
GeneReviews |
hemo-b |
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unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes |
db |
key |
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of excessive bleeding in childhood but have few bleeding problems after puberty. |
ICD-10-CM |
D66 |
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db |
key |
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ICD-10-CM |
D67 |
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db |
key |
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ICD-10-CM |
D68.311 |
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db |
key |
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ICD-10-CM |
M36.2 |
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db |
key |
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ICD-10-CM |
Z14.01 |
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db |
key |
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ICD-10-CM |
Z14.02 |
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db |
key |
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MeSH |
D002836 |
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db |
key |
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MeSH |
D006467 |
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db |
key |
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OMIM |
306700 |
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db |
key |
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OMIM |
306900 |
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Orphanet |
448 |
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SNOMED CT |
41788008 |
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related-gene-list |
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SNOMED CT |
90935002 |
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Hennekam syndrome |
https://ghr.nlm.nih.gov/condition/hennekam-syndrome |
At least 50 cases of Hennekam syndrome have been reported worldwide. |
html:p |
Hennekam syndrome is an inherited disorder resulting from malformation of the |
ar |
autosomal recessive |
CCBE1 |
https://ghr.nlm.nih.gov/gene/CCBE1 |
generalized lymphatic dysplasia |
db |
key |
2014-07 |
2017-12-29 |
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Hennekam淋巴管扩张-淋巴水肿综合征 |
lymphatic system, which is part of both the circulatory system and immune |
related-gene |
gene-symbol |
ghr-page |
Hennekam lymphangiectasia-lymphedema syndrome |
GTR |
C0340834 |
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system. The lymphatic system consists of a network of vessels that transport |
FAT4 |
https://ghr.nlm.nih.gov/gene/FAT4 |
intestinal lymphagiectasia-lymphedema-mental retardation syndrome |
db |
key |
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lymph fluid and immune cells throughout the body. |
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lymphedema-lymphangiectasia-intellectual disability syndrome |
GTR |
C4014939 |
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html:p |
The characteristic signs and symptoms of Hennekam syndrome are lymphatic vessels |
db |
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that are abnormally expanded (lymphangiectasia), particularly the vessels that |
MeSH |
D008201 |
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transport lymph fluid to and from the intestines; puffiness or swelling caused |
db |
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by a buildup of fluid (lymphedema); and unusual facial features. |
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OMIM |
235510 |
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html:p |
Lymphangiectasia often impedes the flow of lymph fluid and can cause the |
db |
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affected vessels to break open (rupture). In the intestines, ruptured vessels |
OMIM |
616006 |
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can lead to accumulation of lymph fluid, which interferes with the absorption of |
db |
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nutrients, fats, and proteins. Accumulation of lymph fluid in the abdomen can |
Orphanet |
2136 |
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cause swelling (chylous ascites). Lymphangiectasia can also affect the kidneys, |
db |
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thyroid gland, the outer covering of the lungs (the pleura), the membrane |
|
SNOMED CT |
234146006 |
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covering the heart (pericardium), or the skin. |
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html:p |
The lymphedema in Hennekam syndrome is often noticeable at birth and usually |
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affects the face and limbs. Severely affected infants may have extensive |
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swelling caused by fluid accumulation before birth (hydrops fetalis). The |
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lymphedema usually affects one side of the body more severely than the other |
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(asymmetric) and slowly worsens over time. |
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html:p |
Facial features of people with Hennekam syndrome may include a flattened |
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appearance to the middle of the face and the bridge of the nose, puffy eyelids, |
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widely spaced eyes (hypertelorism), small ears, and a small mouth with |
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overgrowth of the gums (gingival hypertrophy). Affected individuals may also |
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have an unusually small head (microcephaly) and premature fusion of the skull |
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bones (craniosynostosis). |
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html:p |
Individuals with Hennekam syndrome often have intellectual disability that |
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ranges from mild to severe, although most are on the mild end of the range and |
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some have normal intellect. Many individuals with Hennekam syndrome have growth |
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delay, respiratory problems, permanently bent fingers and toes (camptodactyly), |
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or fusion of the skin between the fingers and toes (cutaneous syndactyly). |
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html:p |
Abnormalities found in a few individuals with Hennekam syndrome include a |
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moderate to severe shortage of red blood cells (anemia) resulting from an |
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inadequate amount (deficiency) of iron in the bloodstream, multiple spleens |
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(polysplenia), misplaced kidneys, genital anomalies, a soft out-pouching around |
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the belly-button (umbilical hernia), heart abnormalities, hearing loss, |
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excessive body hair growth (hirsutism), a narrow upper chest that may have a |
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sunken appearance (pectus excavatum), an abnormal side-to-side curvature of the |
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spine (scoliosis), and inward- and upward-turning feet (clubfeet). |
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html:p |
The signs and symptoms of Hennekam syndrome vary widely among affected |
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individuals, even those within the same family. Life expectancy depends on the |
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severity of the condition and can vary from death in childhood to survival into |
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adulthood. |
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related-gene-list |
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Hepatic lipase deficiency |
https://ghr.nlm.nih.gov/condition/hepatic-lipase-deficiency |
Hepatic lipase deficiency is likely a rare disorder; only a few affected |
html:p |
Hepatic lipase deficiency is a disorder that affects the body's ability to break |
ar |
autosomal recessive |
LIPC |
https://ghr.nlm.nih.gov/gene/LIPC |
HL deficiency |
db |
key |
2015-12 |
2017-12-29 |
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肝脂肪酶缺乏症 |
families have been reported in the scientific literature. |
down fats (lipids). People with this disorder have increased amounts of certain |
hyperlipidemia due to hepatic triglyceride lipase deficiency |
GTR |
C3151466 |
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fats, known as triglycerides and cholesterol, in the blood. These individuals |
LIPC deficiency |
db |
key |
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also have increased amounts of molecules known as high-density lipoproteins |
MeSH |
D008052 |
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(HDLs) and decreased amounts of molecules called low-density lipoproteins (LDL). |
db |
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These molecules transport triglycerides and cholesterol throughout the body. In |
OMIM |
614025 |
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people with hepatic lipase deficiency, the LDL molecules are often abnormally |
db |
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large. |
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|
Orphanet |
140905 |
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html:p |
Normally, high levels of HDL (known as "good cholesterol") and low levels of LDL |
db |
key |
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(known as "bad cholesterol") are protective against an accumulation of fatty |
SNOMED CT |
720940008 |
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deposits on the artery walls (atherosclerosis) and heart disease. However, some |
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individuals with hepatic lipase deficiency, who have this imbalance of HDL and |
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LDL, develop atherosclerosis and heart disease in mid-adulthood, while others do |
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not. It is unknown whether people with hepatic lipase deficiency have a greater |
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risk of developing atherosclerosis or heart disease than individuals in the |
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general population. Similarly, it is unclear how increased blood triglycerides |
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and cholesterol levels affect the risk of atherosclerosis and heart disease in |
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people with hepatic lipase deficiency. |
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related-gene-list |
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Hepatic veno-occlusive disease with immunodeficiency |
https://ghr.nlm.nih.gov/condition/hepatic-veno-occlusive-disease-with-immunodefi |
VODI appears to be a rare disorder; approximately 20 affected families have |
html:p |
Hepatic veno-occlusive disease with immunodeficiency (also called VODI) is a |
ar |
autosomal recessive |
SP110 |
https://ghr.nlm.nih.gov/gene/SP110 |
familial veno-occlusive disease with immunodeficiency |
db |
key |
2009-01 |
2017-12-29 |
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ciency |
been reported worldwide. Most people diagnosed with the condition have been of |
hereditary disorder of the liver and immune system. Its signs and symptoms |
hepatic venoocclusive disease with immunodeficiency |
GTR |
C1856128 |
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Lebanese ancestry. However, the disorder has also been identified in several |
appear after the first few months of life. |
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veno-occlusive disease and immunodeficiency syndrome |
db |
key |
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individuals with other backgrounds in the United States and Italy. |
html:p |
Hepatic veno-occlusive disease is a condition that blocks (occludes) small veins |
VODI |
GeneReviews |
vodi |
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in the liver, disrupting blood flow in this organ. This condition can lead to |
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enlargement of the liver (hepatomegaly), a buildup of scar tissue (hepatic |
ICD-10-CM |
K76.5 |
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fibrosis), and liver failure. |
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key |
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html:p |
Children with VODI are prone to recurrent infections caused by certain bacteria, |
MeSH |
D006504 |
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viruses, and fungi. The organisms that cause infection in people with this |
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key |
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disorder are described as opportunistic because they ordinarily do not cause |
OMIM |
235550 |
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illness in healthy people. These infections are usually serious and may be |
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key |
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life-threatening. In most people with VODI, infections occur before hepatic |
Orphanet |
79124 |
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veno-occlusive disease becomes evident. |
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db |
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html:p |
Many people with VODI live only into childhood, although some affected |
SNOMED CT |
65617004 |
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individuals have lived to early adulthood. |
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related-gene-list |
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Hereditary angioedema, HAE |
https://ghr.nlm.nih.gov/condition/hereditary-angioedema |
Hereditary angioedema is estimated to affect 1 in 50,000 people. Type I is |
html:p |
Hereditary angioedema is a disorder characterized by recurrent episodes of |
ad |
autosomal dominant |
F12 |
https://ghr.nlm.nih.gov/gene/F12 |
C1 esterase inhibitor deficiency |
db |
key |
2009-04 |
2017-12-29 |
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遺傳性血管水腫 |
the most common, accounting for 85 percent of cases. Type II occurs in 15 |
severe swelling (angioedema). The most common areas of the body to develop |
related-gene |
gene-symbol |
ghr-page |
C1 inhibitor deficiency |
GTR |
C0019243 |
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percent of cases, and type III is very rare. |
swelling are the limbs, face, intestinal tract, and airway. Minor trauma or |
SERPING1 |
https://ghr.nlm.nih.gov/gene/SERPING1 |
HAE |
db |
key |
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stress may trigger an attack, but swelling often occurs without a known trigger. |
HANE |
GTR |
C1857728 |
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Episodes involving the intestinal tract cause severe abdominal pain, nausea, |
hereditary angioneurotic edema |
db |
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and vomiting. Swelling in the airway can restrict breathing and lead to |
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GTR |
C1862892 |
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life-threatening obstruction of the airway. About one-third of people with this |
db |
key |
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condition develop a non-itchy rash called erythema marginatum during an attack. |
MeSH |
D054179 |
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html:p |
Symptoms of hereditary angioedema typically begin in childhood and worsen during |
db |
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puberty. On average, untreated individuals have an attack every 1 to 2 weeks, |
OMIM |
106100 |
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and most episodes last for about 3 to 4 days. The frequency and duration of |
db |
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attacks vary greatly among people with hereditary angioedema, even among people |
OMIM |
610618 |
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in the same family. |
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db |
key |
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html:p |
There are three types of hereditary angioedema, called types I, II, and III, |
Orphanet |
91378 |
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which can be distinguished by their underlying causes and levels of a protein |
db |
key |
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called C1 inhibitor in the blood. The different types have similar signs and |
SNOMED CT |
82966003 |
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symptoms. Type III was originally thought to occur only in women, but families |
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with affected males have been identified. |
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inheritance-pattern-list |
related-gene-list |
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Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome |
https://ghr.nlm.nih.gov/condition/hereditary-angiopathy-with-nephropathy-aneurysms-and-muscle-cramps-syndrome |
HANAC syndrome is a rare condition, although the exact prevalence is |
html:p |
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) |
ad |
autosomal dominant |
COL4A1 |
synonym |
db-key |
db |
key |
2011-09 |
2017-12-29 |
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unknown. At least six affected families have been described in the scientific |
syndrome is part of a group of conditions called the COL4A1-related disorders. |
|
GTR |
C2673195 |
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literature. |
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The conditions in this group have a range of signs and symptoms that involve |
synonym |
db-key |
db |
key |
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fragile blood vessels. HANAC syndrome is characterized by angiopathy, which |
synonym |
|
GeneReviews |
col4a1-dis |
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is a disorder of the blood vessels. In people with HANAC syndrome, angiopathy |
synonym |
db-key |
db |
key |
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affects several parts of the body. The blood vessels as well as thin sheet-like structures |
|
MeSH |
D002561 |
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called basement membranes that separate and support cells are weakened and more susceptible to breakage. |
db-key |
db |
key |
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html:p |
People with HANAC syndrome develop kidney disease (nephropathy). Fragile or |
|
OMIM |
611773 |
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damaged blood vessels or basement membranes in the kidneys can lead to blood in |
db-key |
db |
key |
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the urine (hematuria). Cysts can also form in one or both kidneys, and the cysts |
|
Orphanet |
73229 |
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may grow larger over time. |
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db-key |
db |
key |
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Compared to other COL4A1-related disorders, the brain is only mildly affected in HANAC syndrome. |
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People with this condition may have a bulge in one or multiple blood vessels in the brain |
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(intracranial aneurysms). These aneurysms have the potential to burst, causing bleeding |
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within the brain (hemorrhagic stroke). However, in people with HANAC syndrome, these |
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aneurysms typically do not burst. About half of people with this condition also have |
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leukoencephalopathy, which is a change in a type of brain tissue called white |
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matter that can be seen with magnetic resonance imaging (MRI). |
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html:p |
Muscle cramps experienced by most people with HANAC syndrome typically begin in |
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early childhood. Any muscle may be affected, and cramps usually last from a few |
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seconds to a few minutes, although in some cases they can last for several |
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hours. Muscle cramps can be spontaneous or triggered by exercise. |
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html:p |
Individuals with HANAC syndrome also experience a variety of eye problems. All |
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individuals with this condition have arteries that twist and turn abnormally |
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within the light-sensitive tissue at the back of the eyes (arterial retinal |
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tortuosity). This blood vessel abnormality can cause episodes of bleeding within |
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the eyes following any minor trauma to the eyes, leading to temporary vision |
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loss. Other eye problems associated with HANAC syndrome include a clouding of |
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the lens of the eye (cataract) and an abnormality called Axenfeld-Rieger |
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anomaly. Axenfeld-Rieger anomaly is associated with various other eye |
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abnormalities, including underdevelopment and eventual tearing of the colored |
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part of the eye (iris), and a pupil that is not in the center of the eye. |
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Rarely, affected individuals will have a condition called Raynaud phenomenon in |
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which the blood vessels in the fingers and toes temporarily narrow, restricting |
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blood flow to the fingertips and the ends of the toes. As a result, the skin |
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around the affected area may turn white or blue for a brief period of time and |
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the area may tingle or throb. Raynaud phenomenon is typically triggered by |
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changes in temperature and usually causes no long term damage. |
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related-gene-list |
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Hereditary antithrombin deficiency |
https://ghr.nlm.nih.gov/condition/hereditary-antithrombin-deficiency |
Hereditary antithrombin deficiency is estimated to occur in about 1 in |
html:p |
Hereditary antithrombin deficiency is a disorder of blood clotting. People with |
ad |
autosomal dominant |
SERPINC1 |
https://ghr.nlm.nih.gov/gene/SERPINC1 |
Antithrombin III Deficiency |
db |
key |
2013-02 |
2017-12-29 |
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遺傳性抗凝血酶缺乏症 |
2,000 to 3,000 individuals. Of people who have experienced an abnormal blood |
this condition are at higher than average risk for developing abnormal blood |
Congenital Antithrombin III Deficiency |
GTR |
C0272375 |
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(Blood) |
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clot, about 1 in 20 to 200 have hereditary antithrombin deficiency. |
clots, particularly a type of clot that occurs in the deep veins of the legs. |
(Blood) |
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This type of clot is called a deep vein thrombosis (DVT). Affected individuals |
MeSH |
D020152 |
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also have an increased risk of developing a pulmonary embolism (PE), which is a |
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clot that travels through the bloodstream and lodges in the lungs. In hereditary |
OMIM |
107300 |
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antithrombin deficiency, abnormal blood clots usually form only in veins, |
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although they may rarely occur in arteries. |
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Orphanet |
82 |
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html:p |
About half of people with hereditary antithrombin deficiency will develop at |
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key |
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least one abnormal blood clot during their lifetime. These clots usually develop |
SNOMED CT |
36351005 |
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after adolescence. |
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html:p |
Other factors can increase the risk of abnormal blood clots in people with |
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hereditary antithrombin deficiency. These factors include increasing age, |
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surgery, or immobility. The combination of hereditary antithrombin deficiency |
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and other inherited disorders of blood clotting can also influence risk. Women |
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with hereditary antithrombin deficiency are at increased risk of developing an |
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abnormal blood clot during pregnancy or soon after delivery. They also may have |
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an increased risk for pregnancy loss (miscarriage) or stillbirth. |
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related-gene-list |
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Hereditary cerebral amyloid angiopathy |
https://ghr.nlm.nih.gov/condition/hereditary-cerebral-amyloid-angiopathy |
The prevalence of hereditary cerebral amyloid angiopathy is unknown. The |
html:p |
Hereditary cerebral amyloid angiopathy is a condition that can cause a |
ad |
autosomal dominant |
APP |
https://ghr.nlm.nih.gov/gene/APP |
autosomal dominant cerebrovascular amyloidosis |
db |
key |
2012-05 |
2017-12-29 |
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遺傳性大腦類澱粉血管病變 |
Dutch type is the most common, with over 200 affected individuals reported in |
progressive loss of intellectual function (dementia), stroke, and other |
related-gene |
gene-symbol |
ghr-page |
CAA |
GTR |
C1527338 |
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the scientific literature. |
neurological problems starting in mid-adulthood. Due to neurological decline, |
CST3 |
https://ghr.nlm.nih.gov/gene/CST3 |
cerebral amyloid angiopathy, familial |
db |
key |
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this condition is typically fatal in one's sixties, although there is variation |
related-gene |
gene-symbol |
ghr-page |
cerebral amyloid angiopathy, genetic |
GTR |
C1861735 |
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depending on the severity of the signs and symptoms. Most affected individuals |
ITM2B |
https://ghr.nlm.nih.gov/gene/ITM2B |
HCHWA |
db |
key |
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die within a decade after signs and symptoms first appear, although some people |
GTR |
C1867773 |
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with the disease have survived longer. |
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html:p |
There are many different types of hereditary cerebral amyloid angiopathy. The |
GTR |
C2751536 |
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different types are distinguished by their genetic cause and the signs and |
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key |
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symptoms that occur. The various types of hereditary cerebral amyloid angiopathy |
ICD-10-CM |
I68.0 |
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are named after the regions where they were first diagnosed. |
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html:p |
The Dutch type of hereditary cerebral amyloid angiopathy is the most common |
MeSH |
D028243 |
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form. Stroke is frequently the first sign of the Dutch type and is fatal in |
db |
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about one third of people who have this condition. Survivors often develop |
OMIM |
105150 |
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dementia and have recurrent strokes. About half of individuals with the Dutch |
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type who have one or more strokes will have recurrent seizures (epilepsy). |
OMIM |
117300 |
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html:p |
People with the Flemish and Italian types of hereditary cerebral amyloid |
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angiopathy are prone to recurrent strokes and dementia. Individuals with the |
OMIM |
176500 |
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Piedmont type may have one or more strokes and typically experience impaired |
db |
key |
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movements, numbness or tingling (paresthesias), confusion, or dementia. |
OMIM |
605714 |
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html:p |
The first sign of the Icelandic type of hereditary cerebral amyloid angiopathy |
db |
key |
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is typically a stroke followed by dementia. Strokes associated with the |
Orphanet |
85458 |
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Icelandic type usually occur earlier than the other types, with individuals |
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typically experiencing their first stroke in their twenties or thirties. |
SNOMED CT |
230724001 |
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html:p |
Strokes are rare in people with the Arctic type of hereditary cerebral amyloid |
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angiopathy, in which the first sign is usually memory loss that then progresses |
SNOMED CT |
237867001 |
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to severe dementia. Strokes are also uncommon in individuals with the Iowa type. |
db |
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This type is characterized by memory loss, problems with vocabulary and the |
SNOMED CT |
45639009 |
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production of speech, personality changes, and involuntary muscle twitches |
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(myoclonus). |
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SNOMED CT |
56453003 |
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html:p |
Two types of hereditary cerebral amyloid angiopathy, known as familial British |
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dementia and familial Danish dementia, are characterized by dementia and |
SNOMED CT |
703220002 |
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movement problems. Strokes are uncommon in these types. People with the Danish |
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type may also have clouding of the lens of the eyes (cataracts) or deafness. |
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related-gene-list |
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Hereditary diffuse gastric cancer |
https://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer |
Gastric cancer is the fourth most common form of cancer worldwide, |
html:p |
Hereditary diffuse gastric cancer (HDGC) is an inherited disorder that greatly |
ad |
autosomal dominant |
CDH1 |
https://ghr.nlm.nih.gov/gene/CDH1 |
E-cadherin-associated hereditary gastric cancer |
db |
key |
2016-08 |
2017-12-29 |
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(Cancer) |
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affecting 900,000 people per year. HDGC probably accounts for less than 1 |
increases the chance of developing a form of stomach (gastric) cancer. In this |
related-gene |
gene-symbol |
ghr-page |
familial diffuse gastric cancer |
GTR |
C1708349 |
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percent of these cases. |
form, known as diffuse gastric cancer, there is no solid tumor. Instead |
CTNNA1 |
https://ghr.nlm.nih.gov/gene/CTNNA1 |
FDGC |
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cancerous (malignant) cells multiply underneath the stomach lining, making the |
HDGC |
GeneReviews |
hgc |
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lining thick and rigid. The invasive nature of this type of cancer makes it |
hereditary diffuse gastric adenocarcinoma |
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highly likely that these cancer cells will spread (metastasize) to other |
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MeSH |
D013274 |
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tissues, such as the liver or nearby bones. |
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html:p |
Symptoms of diffuse gastric cancer occur late in the disease and can include |
OMIM |
137215 |
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stomach pain, nausea, vomiting, difficulty swallowing (dysphagia), decreased |
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appetite, and weight loss. If the cancer metastasizes to other tissues, it may |
Orphanet |
26106 |
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lead to an enlarged liver, yellowing of the eyes and skin (jaundice), an |
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abnormal buildup of fluid in the abdominal cavity (ascites), firm lumps under |
SNOMED CT |
716859000 |
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the skin, or broken bones. |
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html:p |
In HDGC, gastric cancer usually occurs in a person's late thirties or early |
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forties, although it can develop anytime during adulthood. If diffuse gastric |
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cancer is detected early, the survival rate is high; however, because this type |
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of cancer is hidden underneath the stomach lining, it is usually not diagnosed |
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until the cancer has become widely invasive. At that stage of the disease, the |
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survival rate is approximately 20 percent. |
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html:p |
Some people with HDGC have an increased risk of developing other types of |
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cancer, such as a form of breast cancer in women that begins in the |
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milk-producing glands (lobular breast cancer); prostate cancer; and cancers of |
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the colon (large intestine) and rectum, which are collectively referred to as |
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colorectal cancer. Most people with HDGC have family members who have had one of |
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the types of cancer associated with HDGC. In some families, all the affected |
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members have diffuse gastric cancer. In other families, some affected members |
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have diffuse gastric cancer and others have another associated form of cancer, |
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such as lobular breast cancer. Frequently, HDGC-related cancers develop in |
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individuals before the age of 50. |
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Hereditary Epidermolysis Bullosa |
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遺傳性表皮分解性水皰症 (泡泡龍) |
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related-gene-list |
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Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and |
https://ghr.nlm.nih.gov/condition/hereditary-fibrosing-poikiloderma-with-tendon- |
The prevalence of POIKTMP is unknown. At least 25 affected individuals have |
html:p |
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and |
ad |
autosomal dominant |
FAM111B |
https://ghr.nlm.nih.gov/gene/FAM111B |
hereditary sclerosing poikiloderma with tendon and pulmonary involvement |
db |
key |
2017-02 |
2017-12-29 |
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pulmonary fibrosis |
contractures-myopathy-and-pulmonary-fibrosis |
been described in the medical literature. POIKTMP is thought to be |
pulmonary fibrosis (abbreviated POIKTMP), is a disorder that affects many parts |
HFP |
GTR |
C3810325 |
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under-diagnosed because affected individuals may have only one or a few features |
of the body, particularly the skin, muscles, lungs, and pancreas. Signs and |
POIKTMP |
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of the disorder, and health care providers may not recognize these features as |
symptoms vary among affected individuals. |
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GeneReviews |
hfpoik-tmp |
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part of POIKTMP. |
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People with POIKTMP have patchy changes in skin coloring and small clusters of |
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blood vessels just under the skin (telangiectases), a combination known as |
MeSH |
D012873 |
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poikiloderma. These skin changes begin in infancy and occur primarily on the |
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face. They can also have red, scaly skin patches and mild swelling (lymphedema) |
OMIM |
615704 |
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of the arms and legs; thickened skin on the palms of the hands and soles of the |
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feet (palmoplantar keratoderma); and abnormal hardening (sclerosis) of tissues |
Orphanet |
221043 |
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in the fingers and toes. People with this disorder usually have sparse scalp |
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hair, and their eyelashes and eyebrows can also be sparse or absent. Affected |
SNOMED CT |
402769003 |
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individuals have a decreased ability to sweat (hypohidrosis), which impairs |
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their ability to tolerate heat. |
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html:p |
Reduced movement of joints (contractures) caused by shortening of the connective |
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tissues that attach muscles to bone (tendons) usually develops during childhood |
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in people with POIKTMP. These contractures often affect the calf, resulting in |
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turning in (valgus deformity) of the feet. Contractures can also affect the |
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elbows and wrists. In addition, people with POIKTMP usually develop muscle |
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weakness (myopathy) in the arms and legs, and medical imaging shows abnormal |
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fatty tissue in the muscles. |
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html:p |
Adults with POIKTMP can develop a condition called pulmonary fibrosis, in which |
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scar tissue forms in the lungs. Pulmonary fibrosis eventually causes difficulty |
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breathing and can be life-threatening within a few years after symptoms begin. |
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html:p |
In addition to the skin, muscle, and lung problems that give this condition its |
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name, people with POIKTMP can also have a shortage (deficiency) of enzymes |
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produced by the pancreas to aid in the digestion of fats. This deficiency can |
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lead to diarrhea and poor absorption of fats and fat-soluble vitamins. Liver |
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problems, short stature, and delayed puberty can also occur in affected |
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individuals. Intellectual development is not affected by this disorder. |
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related-gene-list |
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Hereditary folate malabsorption |
https://ghr.nlm.nih.gov/condition/hereditary-folate-malabsorption |
The prevalence of hereditary folate malabsorption is unknown. Approximately |
html:p |
Hereditary folate malabsorption is a disorder that interferes with the body's |
ar |
autosomal recessive |
SLC46A1 |
https://ghr.nlm.nih.gov/gene/SLC46A1 |
congenital defect of folate absorption |
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key |
2009-05 |
2017-12-29 |
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15 affected families have been reported worldwide. Researchers believe that |
ability to absorb certain B vitamins (called folates) from food. Folates are |
Congenital folate malabsorption |
GTR |
C0342705 |
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some infants with this disorder may not get diagnosed or treated, particularly |
important for many cell functions, including the production of DNA and its |
Folic acid transport defect |
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in areas where advanced medical care is not available. |
chemical cousin, RNA. |
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GeneReviews |
folate-mal |
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html:p |
Infants with hereditary folate malabsorption are born with normal amounts of |
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folates in their body because they obtain these vitamins from their mother's |
MeSH |
D008286 |
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blood before birth. They generally begin to show signs and symptoms of the |
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disorder within the first few months of life because their ability to absorb |
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OMIM |
229050 |
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folates from food is impaired. |
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html:p |
Infants with hereditary folate malabsorption experience feeding difficulties, |
Orphanet |
90045 |
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diarrhea, and failure to gain weight and grow at the expected rate (failure to |
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thrive). Affected individuals usually develop a blood disorder called |
|
SNOMED CT |
62578003 |
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megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number |
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of red blood cells (anemia), and the remaining red blood cells are larger than |
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normal (megaloblastic). The symptoms of this blood disorder may include |
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decreased appetite, lack of energy, headaches, pale skin, and tingling or |
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numbness in the hands and feet. People with hereditary folate malabsorption may |
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also have a deficiency of white blood cells (leukopenia), leading to increased |
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susceptibility to infections. In addition, they may have a reduction in the |
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amount of platelets (thrombocytopenia), which can result in easy bruising and |
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abnormal bleeding. |
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html:p |
Some infants with hereditary folate malabsorption exhibit neurological problems |
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such as developmental delay and seizures. Over time, untreated individuals may |
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develop intellectual disability and difficulty coordinating movements (ataxia). |
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related-gene-list |
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Hereditary fructose intolerance |
https://ghr.nlm.nih.gov/condition/hereditary-fructose-intolerance |
The incidence of hereditary fructose intolerance is estimated to be 1 in |
html:p |
Hereditary fructose intolerance is a condition that affects a person's ability |
ar |
autosomal recessive |
ALDOB |
https://ghr.nlm.nih.gov/gene/ALDOB |
ALDOB deficiency |
db |
key |
2011-06 |
2017-12-29 |
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|
遺傳性果糖不耐症 |
20,000 to 30,000 individuals each year worldwide. |
to digest the sugar fructose. Fructose is a simple sugar found primarily in |
aldolase B deficiency |
GTR |
C0016751 |
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fruits. Affected individuals develop signs and symptoms of the disorder in |
fructose-1-phosphate aldolase deficiency |
db |
key |
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infancy when fruits, juices, or other foods containing fructose are introduced |
fructose-1,6-biphosphate aldolase deficiency |
GeneReviews |
hfi |
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into the diet. After ingesting fructose, individuals with hereditary fructose |
fructose aldolase B deficiency |
db |
key |
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intolerance may experience nausea, bloating, abdominal pain, diarrhea, vomiting, |
fructose intolerance |
ICD-10-CM |
E74.12 |
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and low blood sugar (hypoglycemia). Affected infants may fail to grow and gain |
fructosemia |
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weight at the expected rate (failure to thrive). |
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MeSH |
D005633 |
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html:p |
Repeated ingestion of fructose-containing foods can lead to liver and kidney |
db |
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damage. The liver damage can result in a yellowing of the skin and whites of the |
OMIM |
229600 |
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eyes (jaundice), an enlarged liver (hepatomegaly), and chronic liver disease |
db |
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(cirrhosis). Continued exposure to fructose may result in seizures, coma, and |
Orphanet |
469 |
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ultimately death from liver and kidney failure. Due to the severity of symptoms |
db |
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experienced when fructose is ingested, most people with hereditary fructose |
SNOMED CT |
20052008 |
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intolerance develop a dislike for fruits, juices, and other foods containing |
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fructose. |
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html:p |
Hereditary fructose intolerance should not be confused with a condition called |
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fructose malabsorption. In people with fructose malabsorption, the cells of the |
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intestine cannot absorb fructose normally, leading to bloating, diarrhea or |
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constipation, flatulence, and stomach pain. Fructose malabsorption is thought to |
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affect approximately 40 percent of individuals in the Western hemisphere; its |
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cause is unknown. |
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related-gene-list |
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Hereditary hemochromatosis |
https://ghr.nlm.nih.gov/condition/hereditary-hemochromatosis |
Type 1 hemochromatosis is one of the most common genetic disorders in the |
html:p |
Hereditary hemochromatosis is a disorder that causes the body to absorb too much |
ad |
autosomal dominant |
HAMP |
https://ghr.nlm.nih.gov/gene/HAMP |
bronze diabetes |
db |
key |
2015-05 |
2017-12-29 |
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遺傳性血鐵沉著症 |
United States, affecting about 1 million people. It most often affects people |
iron from the diet. The excess iron is stored in the body's tissues and organs, |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
bronzed cirrhosis |
GTR |
C0392514 |
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(Blood) |
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of Northern European descent. The other types of hemochromatosis are considered |
particularly the skin, heart, liver, pancreas, and joints. Because humans |
ar |
autosomal recessive |
HFE |
https://ghr.nlm.nih.gov/gene/HFE |
familial hemochromatosis |
db |
key |
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rare and have been studied in only a small number of families worldwide. |
cannot increase the excretion of iron, excess iron can overload and eventually |
related-gene |
gene-symbol |
ghr-page |
genetic hemochromatosis |
GTR |
C1853733 |
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damage tissues and organs. For this reason, hereditary hemochromatosis is also |
HFE2 |
https://ghr.nlm.nih.gov/gene/HFE2 |
haemochromatosis |
db |
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called an iron overload disorder. |
related-gene |
gene-symbol |
ghr-page |
HC |
GTR |
C1858664 |
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html:p |
Early symptoms of hereditary hemochromatosis are nonspecific and may include |
PNPLA3 |
https://ghr.nlm.nih.gov/gene/PNPLA3 |
hemochromatosis |
db |
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fatigue, joint pain, abdominal pain, and loss of sex drive. Later signs and |
related-gene |
gene-symbol |
ghr-page |
hereditary haemochromatosis |
GTR |
C1865614 |
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symptoms can include arthritis, liver disease, diabetes, heart abnormalities, |
SLC40A1 |
https://ghr.nlm.nih.gov/gene/SLC40A1 |
HH |
db |
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and skin discoloration. The appearance and progression of symptoms can be |
related-gene |
gene-symbol |
ghr-page |
HLAH |
GeneReviews |
hemochromatosis |
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affected by environmental and lifestyle factors such as the amount of iron in |
TFR2 |
https://ghr.nlm.nih.gov/gene/TFR2 |
iron storage disorder |
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the diet, alcohol use, and infections. |
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pigmentary cirrhosis |
GeneReviews |
jh |
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html:p |
Hereditary hemochromatosis is classified by type depending on the age of onset |
primary hemochromatosis |
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and other factors such as genetic cause and mode of inheritance. Type 1, the |
Troisier-Hanot-Chauffard syndrome |
GeneReviews |
tfr2 |
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most common form of the disorder, and type 4 (also called ferroportin disease) |
Von Recklenhausen-Applebaum disease |
db |
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begin in adulthood. Men with type 1 or type 4 hemochromatosis typically develop |
ICD-10-CM |
E83.11 |
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symptoms between the ages of 40 and 60, and women usually develop symptoms after |
db |
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menopause. |
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ICD-10-CM |
E83.110 |
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html:p |
Type 2 hemochromatosis is a juvenile-onset disorder. Iron accumulation begins |
db |
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early in life, and symptoms may appear in childhood. By age 20, decreased or |
ICD-10-CM |
E83.118 |
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absent secretion of sex hormones is evident. Females usually begin menstruation |
db |
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in a normal manner, but menses stop after a few years. Males may experience |
ICD-10-CM |
E83.119 |
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delayed puberty or symptoms related to a shortage of sex hormones. If the |
db |
key |
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disorder is untreated, heart disease becomes evident by age 30. |
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MeSH |
D006432 |
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html:p |
The onset of type 3 hemochromatosis is usually intermediate between types 1 and |
db |
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2. Symptoms of type 3 hemochromatosis generally begin before age 30. |
OMIM |
235200 |
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db |
key |
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OMIM |
602390 |
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db |
key |
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OMIM |
604250 |
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db |
key |
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OMIM |
606069 |
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db |
key |
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Orphanet |
139491 |
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db |
key |
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Orphanet |
139498 |
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db |
key |
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Orphanet |
225123 |
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db |
key |
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Orphanet |
79230 |
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SNOMED CT |
35400008 |
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SNOMED CT |
399126000 |
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SNOMED CT |
399144008 |
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SNOMED CT |
399170009 |
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SNOMED CT |
50855007 |
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related-gene-list |
|
SNOMED CT |
6160004 |
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Hereditary hemorrhagic telangiectasia |
https://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia |
The incidence of hereditary hemorrhagic telangiectasia is difficult to |
html:p |
Hereditary hemorrhagic telangiectasia is a disorder that results in the |
ad |
autosomal dominant |
ACVRL1 |
https://ghr.nlm.nih.gov/gene/ACVRL1 |
HHT |
db |
key |
2016-07 |
2017-12-29 |
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遺傳性出血性之血管擴張症 |
determine because the severity of symptoms can vary widely and some symptoms, |
development of multiple abnormalities in the blood vessels. |
related-gene |
gene-symbol |
ghr-page |
Osler-Weber-Rendu syndrome |
GTR |
C0039445 |
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such as frequent nosebleeds, are common in the general population. In addition, |
html:p |
In the circulatory system, blood carrying oxygen from the lungs is normally |
ENG |
https://ghr.nlm.nih.gov/gene/ENG |
db |
key |
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arteriovenous malformations may be associated with other medical conditions. |
pumped by the heart into the arteries at high pressure. The pressure allows the |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1832774 |
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Hereditary hemorrhagic telangiectasia is widely distributed, occurring in many |
blood to make its way through the arteries to the smaller vessels (arterioles |
GDF2 |
https://ghr.nlm.nih.gov/gene/GDF2 |
db |
key |
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ethnic groups around the world. It is believed to affect between 1 in 5,000 and |
and capillaries) that supply oxygen to the body's tissues. By the time blood |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1832942 |
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1 in 10,000 people. |
reaches the capillaries, the pressure is much lower. The blood then proceeds |
SMAD4 |
https://ghr.nlm.nih.gov/gene/SMAD4 |
db |
key |
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from the capillaries into veins, through which it eventually returns to the |
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GTR |
C1838163 |
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heart. |
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html:p |
In hereditary hemorrhagic telangiectasia, some arterial vessels flow directly |
GTR |
C1857688 |
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into veins rather than into the capillaries. These abnormalities are called |
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arteriovenous malformations. When they occur in vessels near the surface of the |
GTR |
CN034812 |
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skin, where they are visible as red markings, they are known as telangiectases |
db |
key |
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(the singular is telangiectasia). |
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GeneReviews |
hht |
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html:p |
Without the normal buffer of the capillaries, the blood moves from the arteries |
db |
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at high pressure into the thinner walled, less elastic veins. The extra pressure |
ICD-10-CM |
I78.0 |
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tends to strain and enlarge these blood vessels, and may result in compression |
db |
key |
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or irritation of adjacent tissues and frequent episodes of severe bleeding |
|
MeSH |
D013683 |
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(hemorrhage). Nosebleeds are very common in people with hereditary hemorrhagic |
db |
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telangiectasia, and more serious problems may arise from hemorrhages in the |
OMIM |
175050 |
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brain, liver, lungs, or other organs. |
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db |
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html:p |
There are several forms of hereditary hemorrhagic telangiectasia, distinguished |
OMIM |
187300 |
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mainly by their genetic cause but with some differences in patterns of signs and |
db |
key |
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symptoms. People with type 1 tend to develop symptoms earlier than those with |
OMIM |
600376 |
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type 2, and are more likely to have blood vessel malformations in the lungs and |
db |
key |
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brain. Type 2 and type 3 may be associated with a higher risk of liver |
|
OMIM |
601101 |
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involvement. Women are more likely than men to develop blood vessel |
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db |
key |
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malformations in the lungs with type 1, and are also at higher risk of liver |
|
OMIM |
610655 |
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involvement with both type 1 and type 2. Individuals with any form of hereditary |
db |
key |
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hemorrhagic telangiectasia, however, can have any of these problems. |
|
Orphanet |
774 |
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html:p |
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome is a condition |
db |
key |
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that involves both arteriovenous malformations and a tendency to develop |
SNOMED CT |
21877004 |
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growths (polyps) in the gastrointestinal tract. Hereditary hemorrhagic |
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telangiectasia types 1, 2 and 3 do not appear to increase the likelihood of such |
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polyps. |
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related-gene-list |
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Hereditary hyperekplexia |
https://ghr.nlm.nih.gov/condition/hereditary-hyperekplexia |
The exact prevalence of hereditary hyperekplexia is unknown. This condition |
html:p |
Hereditary hyperekplexia is a condition in which affected infants have increased |
ad |
autosomal dominant |
ARHGEF9 |
https://ghr.nlm.nih.gov/gene/ARHGEF9 |
congenital stiff-man syndrome |
db |
key |
2010-04 |
2017-12-29 |
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先天性過度驚嚇症 |
has been identified in more than 70 families worldwide. |
muscle tone (hypertonia) and an exaggerated startle reaction to unexpected |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
congenital stiff-person syndrome |
GTR |
C0234166 |
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stimuli, especially loud noises. Following the startle reaction, infants |
ar |
autosomal recessive |
GLRA1 |
https://ghr.nlm.nih.gov/gene/GLRA1 |
familial hyperekplexia |
db |
key |
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experience a brief period in which they are very rigid and unable to move. |
related-gene |
gene-symbol |
ghr-page |
hyperekplexia |
GTR |
C1835614 |
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During these rigid periods, some infants stop breathing, which, if prolonged, |
GLRB |
https://ghr.nlm.nih.gov/gene/GLRB |
startle syndrome |
db |
key |
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can be fatal. This condition may explain some cases of sudden infant death |
related-gene |
gene-symbol |
ghr-page |
STHE |
GTR |
C1845102 |
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syndrome (SIDS), which is a major cause of unexplained death in babies younger |
GPHN |
https://ghr.nlm.nih.gov/gene/GPHN |
stiff-baby syndrome |
db |
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than 1 year. Infants with hereditary hyperekplexia have hypertonia at all times, |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3553288 |
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except when they are sleeping. |
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SLC6A5 |
https://ghr.nlm.nih.gov/gene/SLC6A5 |
db |
key |
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html:p |
Other signs and symptoms of hereditary hyperekplexia can include muscle twitches |
GTR |
C3553291 |
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when falling asleep (hypnagogic myoclonus) and movements of the arms or legs |
db |
key |
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while asleep. Some infants, when tapped on the nose, extend their head forward |
GeneReviews |
hyperek |
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and have spasms of the limb and neck muscles. Rarely, infants with hereditary |
db |
key |
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hyperekplexia experience recurrent seizures (epilepsy). |
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ICD-10-CM |
G25.82 |
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html:p |
The signs and symptoms of hereditary hyperekplexia typically fade by age 1. |
db |
key |
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However, older individuals with hereditary hyperekplexia may still startle |
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MeSH |
D016750 |
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easily and have periods of rigidity, which can cause them to fall down. Some |
db |
key |
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individuals with this condition have a low tolerance for crowded places and loud |
OMIM |
149400 |
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noises. Some affected people have persistent limb movements during sleep. |
db |
key |
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Affected individuals who have epilepsy have the disorder throughout their lives. |
OMIM |
300607 |
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db |
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OMIM |
614618 |
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db |
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OMIM |
614619 |
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db |
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Orphanet |
3197 |
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db |
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related-gene-list |
|
SNOMED CT |
19557000 |
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Hereditary hypophosphatemic rickets |
https://ghr.nlm.nih.gov/condition/hereditary-hypophosphatemic-rickets |
X-linked hypophosphatemic rickets is the most common form of rickets that |
html:p |
Hereditary hypophosphatemic rickets is a disorder related to low levels of |
ad |
autosomal dominant |
CLCN5 |
https://ghr.nlm.nih.gov/gene/CLCN5 |
hypophosphatemia |
db |
key |
2010-09 |
2017-12-29 |
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runs in families. It affects about 1 in 20,000 newborns. Each of the other forms |
phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
VDRR |
GTR |
C0342642 |
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of hereditary hypophosphatemic rickets has been identified in only a few |
essential for the normal formation of bones and teeth. |
ar |
autosomal recessive |
DMP1 |
https://ghr.nlm.nih.gov/gene/DMP1 |
vitamin D-resistant rickets |
db |
key |
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families. |
html:p |
In most cases, the signs and symptoms of hereditary hypophosphatemic rickets |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0342643 |
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begin in early childhood. The features of the disorder vary widely, even among |
xd |
X-linked dominant |
ENPP1 |
https://ghr.nlm.nih.gov/gene/ENPP1 |
db |
key |
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affected members of the same family. Mildly affected individuals may have |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0342645 |
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hypophosphatemia without other signs and symptoms. More severely affected |
xr |
X-linked recessive |
FGF23 |
https://ghr.nlm.nih.gov/gene/FGF23 |
db |
key |
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children experience slow growth and are shorter than their peers. They develop |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0733682 |
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bone abnormalities that can interfere with movement and cause bone pain. The |
PHEX |
https://ghr.nlm.nih.gov/gene/PHEX |
db |
key |
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most noticeable of these abnormalities are bowed legs or knock knees (a |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2750078 |
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condition in which the lower legs are positioned at an outward angle). These |
SLC34A3 |
https://ghr.nlm.nih.gov/gene/SLC34A3 |
db |
key |
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abnormalities become apparent with weight-bearing activities such as walking. If |
GeneReviews |
rickets-xlh |
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untreated, they tend to worsen with time. |
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db |
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html:p |
Other signs and symptoms of hereditary hypophosphatemic rickets can include |
ICD-10-CM |
E83.31 |
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premature fusion of the skull bones (craniosynostosis) and dental abnormalities. |
db |
key |
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The disorder may also cause abnormal bone growth where ligaments and tendons |
MeSH |
D053098 |
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attach to joints (enthesopathy). In adults, hypophosphatemia is characterized by |
db |
key |
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a softening of the bones known as osteomalacia. |
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OMIM |
193100 |
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html:p |
Researchers have described several forms of hereditary hypophosphatemic rickets, |
db |
key |
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which are distinguished by their pattern of inheritance and genetic cause. The |
OMIM |
241520 |
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most common form of the disorder is known as X-linked hypophosphatemic rickets |
db |
key |
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(XLH). It has an X-linked dominant pattern of inheritance. X-linked recessive, |
OMIM |
241530 |
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autosomal dominant, and autosomal recessive forms of the disorder are much |
db |
key |
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rarer. |
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OMIM |
300554 |
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html:p |
Another rare type of the disorder is known as hereditary hypophosphatemic |
db |
key |
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rickets with hypercalciuria (HHRH). In addition to hypophosphatemia, this |
OMIM |
307800 |
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condition is characterized by the excretion of high levels of calcium in the |
db |
key |
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urine (hypercalciuria). |
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OMIM |
613312 |
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db |
key |
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Orphanet |
89937 |
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db |
key |
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SNOMED CT |
237889002 |
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db |
key |
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SNOMED CT |
237891005 |
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db |
key |
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SNOMED CT |
4996001 |
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SNOMED CT |
82236004 |
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related-gene-list |
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SNOMED CT |
90505000 |
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Hereditary leiomyomatosis and renal cell cancer |
https://ghr.nlm.nih.gov/condition/hereditary-leiomyomatosis-and-renal-cell-cance |
HLRCC has been reported in approximately 100 families worldwide. Its |
html:p |
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which |
ad |
autosomal dominant |
FH |
https://ghr.nlm.nih.gov/gene/FH |
hereditary leiomyomatosis and renal cell carcinoma |
db |
key |
2008-04 |
2017-12-29 |
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(Cancer) |
r |
prevalence is unknown. |
affected individuals tend to develop benign tumors containing smooth muscle |
HLRCC |
GTR |
C1708350 |
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tissue (leiomyomas) in the skin and, in females, the uterus. This condition also |
leiomyomatosis and renal cell cancer |
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increases the risk of kidney cancer. |
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LRCC |
GeneReviews |
hlrcc |
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html:p |
In this disorder, growths on the skin (cutaneous leiomyomas) typically develop |
MCL |
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in the third decade of life. Most of these growths arise from the tiny muscles |
MCUL |
MeSH |
D009386 |
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around the hair follicles that cause "goosebumps". They appear as bumps or |
multiple cutaneous and uterine leiomyomata |
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nodules on the trunk, arms, legs, and occasionally on the face. Cutaneous |
multiple cutaneous leiomyoma |
OMIM |
150800 |
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leiomyomas may be the same color as the surrounding skin, or they may be darker. |
Reed's syndrome |
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Some affected individuals have no cutaneous leiomyomas or only a few, but the |
Orphanet |
151 |
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growths tend to increase in size and number over time. Cutaneous leiomyomas are |
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often more sensitive than the surrounding skin to cold or light touch, and may |
SNOMED CT |
404043000 |
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be painful. |
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html:p |
Most women with HLRCC also develop uterine leiomyomas (fibroids). While uterine |
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fibroids are very common in the general population, women with HLRCC tend to |
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have numerous large fibroids that appear earlier than in the general population. |
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html:p |
Approximately 10 percent to 16 percent of people with HLRCC develop a type of |
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kidney cancer called renal cell cancer. The signs and symptoms of renal cell |
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cancer may include lower back pain, blood in the urine, or a mass in the kidney |
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that can be felt upon physical examination. Some people with renal cell cancer |
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have no symptoms until the disease is advanced. The average age at which people |
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with HLRCC are diagnosed with kidney cancer is in their forties. |
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html:p |
This disorder, especially if it appears in individuals or families without renal |
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cell cancer, is also sometimes called multiple cutaneous leiomyomatosis (MCL) |
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or multiple cutaneous and uterine leiomyomatosis (MCUL). |
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related-gene-list |
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Hereditary multiple osteochondromas |
https://ghr.nlm.nih.gov/condition/hereditary-multiple-osteochondromas |
The incidence of hereditary multiple osteochondromas is estimated to be 1 |
html:p |
Hereditary multiple osteochondromas is a condition in which people develop |
ad |
autosomal dominant |
EXT1 |
https://ghr.nlm.nih.gov/gene/EXT1 |
Bessel-Hagen disease |
db |
key |
2016-03 |
2017-12-29 |
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遺傳性多發性骨生疣 |
in 50,000 individuals. This condition occurs more frequently in some isolated |
multiple benign (noncancerous) bone tumors called osteochondromas. The number of |
related-gene |
gene-symbol |
ghr-page |
diaphyseal aclasis |
GTR |
C0015306 |
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populations: the incidence is approximately 1 in 1,000 in the Chamorro |
osteochondromas and the bones on which they are located vary greatly among |
EXT2 |
https://ghr.nlm.nih.gov/gene/EXT2 |
exostoses, multiple hereditary |
db |
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population of Guam and 1 in 77 in the Ojibway Indian population of Manitoba, |
affected individuals. The osteochondromas are not present at birth, but |
familial exostoses |
GTR |
C1851413 |
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Canada. |
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approximately 96 percent of affected people develop multiple osteochondromas by |
hereditary multiple exostoses |
db |
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the time they are 12 years old. Osteochondromas typically form at the end of |
multiple cartilaginous exostoses |
GeneReviews |
ext |
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long bones and on flat bones such as the hip and shoulder blade. |
multiple congenital exostosis |
db |
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html:p |
Multiple osteochondromas can disrupt bone growth and can cause growth |
multiple hereditary exostoses |
ICD-10-CM |
Q78.6 |
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disturbances of the arms, hands, and legs, leading to short stature. Often these |
multiple osteochondromas |
db |
key |
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problems with bone growth do not affect the right and left limb equally, |
multiple osteochondromatosis |
MeSH |
D005097 |
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resulting in uneven limb lengths (limb length discrepancy). Bowing of the |
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forearm or ankle and abnormal development of the hip joints (hip dysplasia) |
OMIM |
133700 |
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caused by osteochondromas can lead to difficulty walking and general discomfort. |
db |
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Multiple osteochondromas may also result in pain, limited range of joint |
|
OMIM |
133701 |
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movement, and pressure on nerves, blood vessels, the spinal cord, and tissues |
db |
key |
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surrounding the osteochondromas. |
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Orphanet |
321 |
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html:p |
Osteochondromas are typically benign; however, in some instances these tumors |
db |
key |
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become malignant (cancerous). Researchers estimate that people with hereditary |
SNOMED CT |
254044004 |
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multiple osteochondromas have a 1 in 20 to 1 in 200 lifetime risk of developing |
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cancerous osteochondromas (called sarcomas). |
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related-gene-list |
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Hereditary myopathy with early respiratory failure |
https://ghr.nlm.nih.gov/condition/hereditary-myopathy-with-early-respiratory-fai |
HMERF is a rare condition. It has been reported in several families of |
html:p |
Hereditary myopathy with early respiratory failure (HMERF) is an inherited |
ad |
autosomal dominant |
TTN |
https://ghr.nlm.nih.gov/gene/TTN |
Edstrom myopathy |
db |
key |
2012-02 |
2017-12-29 |
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lure |
Swedish and French descent, and in at least one individual from Italy. |
muscle disease that predominantly affects muscles close to the center of the |
HMERF |
GTR |
C1863599 |
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body (proximal muscles) and muscles that are needed for breathing. |
MPRM |
db |
key |
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html:p |
The major signs and symptoms of HMERF usually appear in adulthood, on average |
myopathy, proximal, with early respiratory muscle involvement |
GeneReviews |
hmerf |
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around age 35. Among the earliest muscles affected in HMERF are the neck |
db |
key |
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flexors, which are muscles at the front of the neck that help hold the head up. |
MeSH |
D009135 |
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Other proximal muscles that become weak in people with HMERF include those of |
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the hips, thighs, and upper arms. Some affected individuals have also reported |
MeSH |
D012131 |
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weakness in muscles of the lower leg and foot called the dorsal foot extensors. |
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html:p |
HMERF also causes severe weakness in muscles of the chest that are involved in |
OMIM |
603689 |
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breathing, particularly the diaphragm. This weakness leads to breathing problems |
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and life-threatening respiratory failure. |
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Orphanet |
178464 |
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db |
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related-gene-list |
|
SNOMED CT |
702373006 |
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Hereditary neuralgic amyotrophy |
https://ghr.nlm.nih.gov/condition/hereditary-neuralgic-amyotrophy |
Hereditary neuralgic amyotrophy is a rare disorder, but its specific |
html:p |
Hereditary neuralgic amyotrophy is a disorder characterized by episodes of |
ad |
autosomal dominant |
SEPT9 |
https://ghr.nlm.nih.gov/gene/SEPT9 |
Amyotrophic Neuralgia |
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2009-09 |
2017-12-29 |
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遺傳性神經性肌萎縮 |
prevalence is unknown. Approximately 200 families affected by the disorder have |
severe pain and muscle wasting (amyotrophy) in one or both shoulders and arms. |
Brachial Neuralgia |
GTR |
C1834304 |
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been identified worldwide. |
Neuralgic pain is felt along the path of one or more nerves and often has no |
Brachial Neuritis |
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obvious physical cause. The network of nerves involved in hereditary neuralgic |
Brachial Plexus Neuritis |
GeneReviews |
hna |
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amyotrophy, called the brachial plexus, controls movement and sensation in the |
familial brachial plexus neuritis |
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shoulders and arms. |
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hereditary brachial plexus neuropathy |
ICD-10-CM |
G54.5 |
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html:p |
People with hereditary neuralgic amyotrophy usually begin experiencing attacks |
heredofamilial neuritis with brachial plexus predilection |
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in their twenties, but episodes have occurred as early as the age of 1 year in |
HNA |
MeSH |
D020968 |
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some individuals. The attacks may be spontaneous or triggered by stress such as |
NAPB |
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strenuous exercise, childbirth, surgery, exposure to cold, infections, |
Neuralgic Amyotrophy |
OMIM |
162100 |
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immunizations, or emotional disturbance. While the frequency of the episodes |
neuritis with brachial predilection |
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tends to decrease with age, affected individuals are often left with residual |
Shoulder Girdle Neuropathy |
Orphanet |
2901 |
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problems, such as chronic pain and impaired movement, that accumulate over time. |
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html:p |
Typically an attack begins with severe pain on one or both sides of the body; |
SNOMED CT |
26609002 |
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right-sided involvement is most common. The pain may be difficult to control |
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with medication and usually lasts about a month. Within a period of time ranging |
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from a few hours to a couple of weeks, the muscles in the affected area begin |
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to weaken and waste away (atrophy), and movement becomes difficult. Muscle |
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wasting may cause changes in posture or in the appearance of the shoulder, back, |
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and arm. In particular, weak shoulder muscles tend to make the shoulder blades |
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(scapulae) "stick out" from the back, a common sign known as scapular winging. |
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Additional features of hereditary neuralgic amyotrophy may include decreased |
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sensation (hypoesthesia) and abnormal sensations in the skin such as numbness or |
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tingling (paresthesias). Areas other than the shoulder and arm may also be |
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involved. |
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html:p |
In a few affected families, individuals with hereditary neuralgic amyotrophy |
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also have unusual physical characteristics including short stature, excess skin |
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folds on the neck and arms, an opening in the roof of the mouth (cleft palate), |
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a split in the soft flap of tissue that hangs from the back of the mouth (bifid |
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uvula), and partially webbed or fused fingers or toes (partial syndactyly). They |
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may also have distinctive facial features including eyes set close together |
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(ocular hypotelorism), a narrow opening of the eyelids (short palpebral |
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fissures) with a skin fold covering the inner corner of the eye (epicanthal |
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fold), a long nasal bridge, a narrow mouth, and differences between one side of |
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the face and the other (facial asymmetry). |
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related-gene-list |
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Hereditary neuropathy with liability to pressure palsies, HNPP |
https://ghr.nlm.nih.gov/condition/hereditary-neuropathy-with-liability-to-pressu |
Hereditary neuropathy with liability to pressure palsies is estimated to |
html:p |
Hereditary neuropathy with liability to pressure palsies is a disorder that |
ad |
autosomal dominant |
PMP22 |
https://ghr.nlm.nih.gov/gene/PMP22 |
compression neuropathy |
db |
key |
2016-07 |
2017-12-29 |
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遺傳性壓力敏感性周圍神經病變 |
re-palsies |
occur in 2 to 5 per 100,000 individuals. |
affects peripheral nerves. These nerves connect the brain and spinal cord to |
entrapment neuropathy |
GTR |
C0393814 |
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muscles and sensory cells that detect touch, pain, and temperature. In people |
familial pressure sensitive neuropathy |
db |
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with this disorder, the peripheral nerves are unusually sensitive to pressure, |
hereditary motor and sensory neuropathy |
GeneReviews |
hnpp |
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such as the pressure that occurs when carrying heavy grocery bags, leaning on an |
hereditary pressure sensitive neuropathy |
db |
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elbow, or sitting without changing position, particularly with crossed legs. |
HNPP |
MeSH |
D006211 |
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These activities would not normally cause sensation problems in people without |
inherited tendency to pressure palsies |
db |
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the disorder. |
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tomaculous neuropathy |
MeSH |
D015417 |
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html:p |
Hereditary neuropathy with liability to pressure palsies is characterized by |
db |
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recurrent episodes of numbness, tingling, and loss of muscle function (palsy) in |
OMIM |
162500 |
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the region associated with the affected nerve, usually an arm, hand, leg, or |
db |
key |
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foot. An episode can last from several minutes to several months, but recovery |
Orphanet |
640 |
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is usually complete. Repeated incidents, however, can cause permanent muscle |
db |
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weakness or loss of sensation. This disorder is also associated with pain in the |
SNOMED CT |
230558006 |
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limbs, especially the hands. |
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A pressure palsy episode results from pressure on a single nerve, and any |
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peripheral nerve can be affected. Although episodes often recur, they can affect |
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different nerves. The most common problem sites involve nerves in the wrists, |
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elbows, and knees. The fingers, shoulders, hands, feet, and scalp can also be |
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affected. Many people with this disorder experience carpal tunnel syndrome, |
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which occurs when a nerve in the wrist (the median nerve) is involved. Carpal |
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tunnel syndrome is characterized by numbness, tingling, and weakness in the hand |
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and fingers. An episode in the hand may affect fine motor activities such as |
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writing, opening jars, and fastening buttons. An episode of nerve compression in |
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the knee can lead to a condition called foot drop, which makes walking, |
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climbing stairs, or driving difficult or impossible. |
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html:p |
The symptoms of hereditary neuropathy with liability to pressure palsies usually |
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begin during adolescence or early adulthood but may develop anytime from |
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childhood to late adulthood. Symptoms vary in severity; many people never |
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realize they have the disorder, while some people experience prolonged |
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disability. Hereditary neuropathy with liability to pressure palsies does not |
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affect life expectancy. |
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Hereditary nonpolyposis colorectal cancer,HNPCC |
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遺傳性結腸直腸癌 |
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related-gene-list |
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Hereditary pancreatitis |
https://ghr.nlm.nih.gov/condition/hereditary-pancreatitis |
Hereditary pancreatitis is thought to be a rare condition. In Europe, its |
html:p |
Hereditary pancreatitis is a genetic condition characterized by recurrent |
ad |
autosomal dominant |
CFTR |
https://ghr.nlm.nih.gov/gene/CFTR |
autosomal dominant hereditary pancreatitis |
db |
key |
2012-10 |
2017-12-29 |
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prevalence is estimated to be 3 to 6 per million individuals. |
episodes of inflammation of the pancreas (pancreatitis). The pancreas produces |
related-gene |
gene-symbol |
ghr-page |
familial pancreatitis |
GTR |
C0238339 |
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enzymes that help digest food, and it also produces insulin, a hormone that |
CTRC |
https://ghr.nlm.nih.gov/gene/CTRC |
hereditary chronic pancreatitis |
db |
key |
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controls blood sugar levels in the body. Episodes of pancreatitis can lead to |
related-gene |
gene-symbol |
ghr-page |
HP |
GeneReviews |
pancreatitis-ov |
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permanent tissue damage and loss of pancreatic function. |
PRSS1 |
https://ghr.nlm.nih.gov/gene/PRSS1 |
db |
key |
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html:p |
Signs and symptoms of this condition usually begin in late childhood with an |
related-gene |
gene-symbol |
ghr-page |
|
GeneReviews |
prss1-hp |
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episode of acute pancreatitis. A sudden (acute) attack can cause abdominal pain, |
SPINK1 |
https://ghr.nlm.nih.gov/gene/SPINK1 |
db |
key |
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fever, nausea, or vomiting. An episode typically lasts from one to three days, |
ICD-10-CM |
K86.1 |
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although some people may experience severe episodes that last longer. Hereditary |
db |
key |
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pancreatitis progresses to recurrent acute pancreatitis with multiple episodes |
MeSH |
D050500 |
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of acute pancreatitis that recur over a period of at least a year; the number of |
db |
key |
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episodes a person experiences varies. Recurrent acute pancreatitis leads to |
OMIM |
167800 |
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chronic pancreatitis, which occurs when the pancreas is persistently inflamed. |
db |
key |
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Chronic pancreatitis usually develops by early adulthood in affected |
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Orphanet |
676 |
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individuals. Signs and symptoms of chronic pancreatitis include occasional or |
db |
key |
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frequent abdominal pain of varying severity, flatulence, and bloating. Many |
SNOMED CT |
235949005 |
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individuals with hereditary pancreatitis also develop abnormal calcium deposits |
db |
key |
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in the pancreas (pancreatic calcifications) by early adulthood. |
|
SNOMED CT |
235956004 |
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html:p |
Years of inflammation damage the pancreas, causing the formation of scar tissue |
db |
key |
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(fibrosis) in place of functioning pancreatic tissue. Pancreatic fibrosis leads |
SNOMED CT |
68072000 |
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to the loss of pancreatic function in many affected individuals. This loss of |
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function can impair the production of digestive enzymes and disrupt normal |
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digestion, leading to fatty stool (steatorrhea), weight loss, and protein and |
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vitamin deficiencies. Because of a decrease in insulin production due to a loss |
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of pancreatic function, about a quarter of individuals with hereditary |
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pancreatitis will develop type 1 diabetes mellitus by mid-adulthood; the risk of |
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developing diabetes increases with age. |
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html:p |
Chronic pancreatic inflammation and damage to the pancreas increase the risk of |
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developing pancreatic cancer. The risk is particularly high in people with |
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hereditary pancreatitis who also smoke, use alcohol, have type 1 diabetes |
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mellitus, or have a family history of cancer. In affected individuals who |
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develop pancreatic cancer, it is typically diagnosed in mid-adulthood. |
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html:p |
Complications from pancreatic cancer and type 1 diabetes mellitus are the most |
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common causes of death in individuals with hereditary pancreatitis, although |
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individuals with this condition are thought to have a normal life expectancy. |
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related-gene-list |
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Hereditary paraganglioma-pheochromocytoma |
https://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma |
Hereditary paraganglioma-pheochromocytoma occurs in approximately 1 in 1 |
html:p |
Hereditary paraganglioma-pheochromocytoma is an inherited condition |
ad |
autosomal dominant |
SDHA |
https://ghr.nlm.nih.gov/gene/SDHA |
familial paraganglioma-pheochromocytoma syndromes |
db |
key |
2016-11 |
2017-12-29 |
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遺傳性副神經節嗜鉻細胞瘤 |
million people. |
characterized by the growth of noncancerous (benign) tumors in structures called |
related-gene |
gene-symbol |
ghr-page |
familial paraganglioma syndrome |
GTR |
C1854336 |
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paraganglia. Paraganglia are groups of cells that are found near nerve cell |
SDHAF2 |
https://ghr.nlm.nih.gov/gene/SDHAF2 |
FPGL |
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bunches called ganglia. A tumor involving the paraganglia is known as a |
related-gene |
gene-symbol |
ghr-page |
FPGL/PHEO |
GTR |
C1861848 |
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paraganglioma. A type of paraganglioma known as a pheochromocytoma develops in |
SDHB |
https://ghr.nlm.nih.gov/gene/SDHB |
hereditary paraganglioma-pheochromocytoma syndromes |
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the adrenal glands, which are located on top of each kidney and produce hormones |
related-gene |
gene-symbol |
ghr-page |
hereditary pheochromocytoma-paraganglioma |
GTR |
C1866552 |
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in response to stress. Other types of paraganglioma are usually found in the |
SDHC |
https://ghr.nlm.nih.gov/gene/SDHC |
paragangliomas 1 |
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head, neck, or trunk. People with hereditary paraganglioma-pheochromocytoma |
related-gene |
gene-symbol |
ghr-page |
paragangliomas 2 |
GTR |
C1868633 |
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develop one or more paragangliomas, which may include pheochromocytomas. |
SDHD |
https://ghr.nlm.nih.gov/gene/SDHD |
paragangliomas 3 |
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html:p |
Pheochromocytomas and some other paragangliomas are associated with ganglia of |
paragangliomas 4 |
GTR |
C3279992 |
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the sympathetic nervous system. The sympathetic nervous system controls the |
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"fight-or-flight" response, a series of changes in the body due to hormones |
GeneReviews |
paragangliomas |
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released in response to stress. Sympathetic paragangliomas found outside the |
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adrenal glands, usually in the abdomen, are called extra-adrenal paragangliomas. |
MeSH |
D010235 |
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Most sympathetic paragangliomas, including pheochromocytomas, produce hormones |
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called catecholamines, such as epinephrine (adrenaline) or norepinephrine. These |
OMIM |
115310 |
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excess catecholamines can cause signs and symptoms such as high blood pressure |
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(hypertension), episodes of rapid heartbeat (palpitations), headaches, or |
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OMIM |
168000 |
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sweating. |
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html:p |
Most paragangliomas are associated with ganglia of the parasympathetic nervous |
OMIM |
601650 |
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system, which controls involuntary body functions such as digestion and saliva |
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formation. Parasympathetic paragangliomas, typically found in the head and neck, |
OMIM |
605373 |
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usually do not produce hormones. However, large tumors may cause signs and |
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symptoms such as coughing, hearing loss in one ear, or difficulty swallowing. |
OMIM |
614165 |
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html:p |
Although most paragangliomas and pheochromocytomas are noncancerous, some can |
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become cancerous (malignant) and spread to other parts of the body |
|
Orphanet |
29072 |
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(metastasize). Extra-adrenal paragangliomas become malignant more often than |
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other types of paraganglioma or pheochromocytoma. |
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SNOMED CT |
716857003 |
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html:p |
Researchers have identified several types of hereditary |
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paraganglioma-pheochromocytoma. Each type is distinguished by its genetic cause. |
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People with types 1, 2, and 3 typically develop paragangliomas in the head or |
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neck region. People with type 4 usually develop extra-adrenal paragangliomas in |
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the abdomen and are at higher risk for malignant tumors that metastasize. The |
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other types are very rare. Hereditary paraganglioma-pheochromocytoma is |
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typically diagnosed in a person's 30s. |
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html:p |
Paragangliomas and pheochromocytomas can occur in individuals with other |
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inherited disorders, such as von-Hippel Lindau syndrome, Carney-Stratakis |
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syndrome, and certain types of multiple endocrine neoplasia. These other |
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disorders feature additional tumor types and have different genetic causes. Some |
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paragangliomas and pheochromocytomas occur in people with no history of the |
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tumors in their families and appear not to be inherited. These cases are |
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designated as sporadic. |
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related-gene-list |
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Hereditary sensory and autonomic neuropathy type IE |
https://ghr.nlm.nih.gov/condition/hereditary-sensory-and-autonomic-neuropathy-ty |
HSAN IE is a rare disorder; its prevalence is unknown. Small numbers of |
html:p |
Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a disorder that |
ad |
autosomal dominant |
DNMT1 |
https://ghr.nlm.nih.gov/gene/DNMT1 |
DNMT1-complex disorder |
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2017-06 |
2017-12-29 |
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pe-ie |
affected families have been identified in populations around the world. |
affects the nervous system. It is characterized by three main features: hearing |
DNMT1-related dementia, deafness, and sensory neuropathy |
GTR |
C3279885 |
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loss, a decline of intellectual function (dementia), and a worsening loss of |
hereditary sensory and autonomic neuropathy type 1 with dementia and hearing |
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sensation in the feet and legs (peripheral neuropathy). |
|
loss |
GeneReviews |
dnmt1-ddsn |
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html:p |
People with HSAN IE develop hearing loss that is caused by abnormalities in the |
hereditary sensory neuropathy type IE |
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inner ear (sensorineural hearing loss). The hearing loss, which affects both |
HSAN1E |
MeSH |
D009477 |
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ears, gets worse over time and usually progresses to moderate or severe deafness |
HSN IE |
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between the ages of 20 and 35. |
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HSNIE |
OMIM |
614116 |
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html:p |
Affected individuals experience dementia typically beginning in their thirties. |
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In some people with HSAN IE, changes in personality, such as irritability, |
Orphanet |
36386 |
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apathy, or lack of impulse control, become apparent before problems with |
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thinking skills. |
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SNOMED CT |
397734008 |
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html:p |
Peripheral neuropathy is caused by impaired function of nerve cells called |
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sensory neurons, which transmit information about sensations such as pain, |
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temperature, and touch. Loss of sensation in the feet and legs, which usually |
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begins in adolescence or early adulthood in people with HSAN IE and worsens over |
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time, can cause difficulty walking. Affected individuals may not be aware of |
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injuries to their feet, which can lead to complications such as open sores and |
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infections. If these complications are severe, amputation of the affected areas |
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may be required. |
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html:p |
Some people with HSAN IE also experience recurrent seizures (epilepsy) and sleep |
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problems. The severity of the signs and symptoms of HSAN IE and their age of |
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onset are variable, even among affected members of the same family. |
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related-gene-list |
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Hereditary sensory and autonomic neuropathy type II |
https://ghr.nlm.nih.gov/condition/hereditary-sensory-and-autonomic-neuropathy-ty |
HSAN2 is a rare disease; however, the prevalence is unknown. |
html:p |
Hereditary sensory and autonomic neuropathy type II (HSAN2) is a condition that |
ar |
autosomal recessive |
KIF1A |
https://ghr.nlm.nih.gov/gene/KIF1A |
congenital sensory neuropathy |
db |
key |
2017-04 |
2017-12-29 |
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pe-ii |
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primarily affects the sensory nerve cells (sensory neurons), which transmit |
related-gene |
gene-symbol |
ghr-page |
hereditary sensory and autonomic neuropathy type 2 |
GTR |
C0020072 |
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information about sensations such as pain, temperature, and touch to the brain. |
RETREG1 |
https://ghr.nlm.nih.gov/gene/RETREG1 |
HSAN type II |
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These sensations are impaired in people with HSAN2. In some affected people, the |
related-gene |
gene-symbol |
ghr-page |
HSAN2 |
GTR |
C2751092 |
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condition may also cause mild abnormalities of the autonomic neurons, which |
SCN9A |
https://ghr.nlm.nih.gov/gene/SCN9A |
HSAN2A |
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control involuntary body functions such as heart rate, digestion, and breathing. |
related-gene |
gene-symbol |
ghr-page |
HSAN2B |
GTR |
C2752089 |
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The sensory and autonomic neurons are part of the body's peripheral nervous |
WNK1 |
https://ghr.nlm.nih.gov/gene/WNK1 |
HSAN2C |
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system, which comprises the nerves outside the brain and spinal cord. HSAN2 is |
HSAN2D |
GeneReviews |
hsan2 |
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considered a form of peripheral neuropathy. |
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HSANII |
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html:p |
The signs and symptoms of HSAN2 typically begin in infancy or early childhood. |
HSN type II |
MeSH |
D009477 |
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The first sign of the condition is usually numbness in the hands and feet. Soon |
Morvan disease |
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after, affected individuals lose the ability to feel pain or sense hot and cold. |
OMIM |
201300 |
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In people with HSAN2, unnoticed injuries often lead to open sores (ulcers) on |
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the hands and feet. Because affected individuals cannot feel the pain of these |
OMIM |
613115 |
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sores, they may not seek treatment right away. Without treatment, the ulcers can |
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become infected and may require amputation of the affected area. People with |
Orphanet |
970 |
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HSAN2 often injure themselves unintentionally, typically by biting the tongue, |
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lips, or fingers. These injuries may lead to loss of the affected areas, such as |
SNOMED CT |
398148000 |
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the tip of the tongue. Affected individuals often have injuries and fractures |
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in their hands, feet, limbs, and joints that go untreated because of the |
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inability to feel pain. Repeated injury can lead to a condition called Charcot |
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joints, in which the bones and tissue surrounding joints are damaged. |
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html:p |
The effects of HSAN2 on the autonomic nervous system are more variable. Some |
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infants with HSAN2 have digestive problems such as the backflow of stomach acids |
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into the esophagus (gastroesophageal reflux) or slow eye-blink or gag reflexes. |
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Affected individuals may also have weak deep-tendon reflexes, such as the |
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reflex being tested when a doctor taps the knee with a hammer. |
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html:p |
Some people with HSAN2 lose a type of taste bud on the tip of the tongue called |
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lingual fungiform papillae and have a diminished sense of taste. |
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related-gene-list |
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Hereditary sensory and autonomic neuropathy type V |
https://ghr.nlm.nih.gov/condition/hereditary-sensory-and-autonomic-neuropathy-ty |
HSAN5 is very rare. Only a few people with the condition have been |
html:p |
Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that |
ar |
autosomal recessive |
NGF |
https://ghr.nlm.nih.gov/gene/NGF |
congenital insensitivity to pain |
db |
key |
2011-07 |
2017-12-29 |
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pe-v |
identified. |
primarily affects the sensory nerve cells (sensory neurons), which transmit |
congenital sensory neuropathy with selective loss of small myelinated fibers |
GTR |
C0020075 |
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information about sensations such as pain, temperature, and touch. These |
hereditary sensory and autonomic neuropathy, type 5 |
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sensations are impaired in people with HSAN5. |
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HSAN type V |
MeSH |
D009477 |
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html:p |
The signs and symptoms of HSAN5 appear early, usually at birth or during |
HSAN V |
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infancy. People with HSAN5 lose the ability to feel pain, heat, and cold. Deep |
HSAN5 |
OMIM |
608654 |
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pain perception, the feeling of pain from injuries to bones, ligaments, or |
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muscles, is especially affected in people with HSAN5. Because of the inability |
Orphanet |
64752 |
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to feel deep pain, affected individuals suffer repeated severe injuries such as |
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bone fractures and joint injuries that go unnoticed. Repeated trauma can lead to |
SNOMED CT |
128206006 |
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a condition called Charcot joints, in which the bones and tissue surrounding |
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joints are destroyed. |
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related-gene-list |
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Hereditary sensory neuropathy type IA |
https://ghr.nlm.nih.gov/condition/hereditary-sensory-neuropathy-type-ia |
Hereditary sensory neuropathy type IA is a rare condition; its prevalence |
html:p |
Hereditary sensory neuropathy type IA is a condition characterized by nerve |
ad |
autosomal dominant |
SPTLC1 |
https://ghr.nlm.nih.gov/gene/SPTLC1 |
autosomal dominant hereditary sensory radicular neuropathy, type 1A |
db |
key |
2015-03 |
2017-12-29 |
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is estimated to be 1 to 2 per 100,000 individuals. |
abnormalities in the legs and feet (peripheral neuropathy). Many people with |
hereditary sensory and autonomic neuropathy, type IA |
GTR |
C0020071 |
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this condition experience prickling or tingling sensations (paresthesias), |
HSAN IA |
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numbness, and a reduced ability to feel pain and sense hot and cold. Some |
HSAN1A |
GeneReviews |
hsn1 |
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affected individuals do not lose sensation, but instead feel shooting pains in |
HSN IA |
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their legs and feet. As the disorder progresses, the sensory abnormalities can |
HSN1A |
ICD-10-CM |
G60.8 |
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affect the hands, arms, shoulders, joints, and abdomen. Affected individuals may |
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also experience muscle wasting and weakness as they get older. Weakness in the |
MeSH |
D009477 |
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ankle muscles can make walking difficult. As the condition progresses, some |
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people with hereditary sensory neuropathy type IA require wheelchair assistance. |
OMIM |
162400 |
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html:p |
Individuals with hereditary sensory neuropathy type IA typically get open sores |
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(ulcers) on their feet or hands or infections of the soft tissue of the |
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Orphanet |
36386 |
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fingertips (whitlows) that are slow to heal. Because affected individuals cannot |
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feel the pain of these sores, they may not seek immediate treatment. Without |
SNOMED CT |
397734008 |
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treatment, the ulcers can become infected and may require amputation of the |
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surrounding area or limb. |
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html:p |
Some people with hereditary sensory neuropathy type IA develop hearing loss |
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caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing |
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loss typically develops in middle to late adulthood. |
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html:p |
The signs and symptoms of hereditary sensory neuropathy type IA can begin |
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anytime between adolescence and late adulthood. While the features of this |
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condition tend to worsen over time, affected individuals have a normal life |
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expectancy if signs and symptoms are properly treated. |
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related-gene-list |
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Hereditary spherocytosis |
https://ghr.nlm.nih.gov/condition/hereditary-spherocytosis |
Hereditary spherocytosis occurs in 1 in 2,000 individuals of Northern |
html:p |
Hereditary spherocytosis is a condition that affects red blood cells. People |
ad |
autosomal dominant |
ANK1 |
https://ghr.nlm.nih.gov/gene/ANK1 |
congenital spherocytic hemolytic anemia |
db |
key |
2013-09 |
2017-12-29 |
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遺傳性球形紅血球增多症 |
European ancestry. This condition is the most common cause of inherited anemia |
with this condition typically experience a shortage of red blood cells (anemia), |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
congenital spherocytosis |
GTR |
C0037889 |
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in that population. The prevalence of hereditary spherocytosis in people of |
yellowing of the eyes and skin (jaundice), and an enlarged spleen |
ar |
autosomal recessive |
EPB42 |
https://ghr.nlm.nih.gov/gene/EPB42 |
HS |
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other ethnic backgrounds is unknown, but it is much less common. |
(splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, |
related-gene |
gene-symbol |
ghr-page |
spherocytic anemia |
GTR |
C2674219 |
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although it improves after the first year of life. Splenomegaly can occur |
SLC4A1 |
https://ghr.nlm.nih.gov/gene/SLC4A1 |
spherocytosis, type 1 |
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anytime from early childhood to adulthood. About half of affected individuals |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2675192 |
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develop hard deposits in the gallbladder called gallstones, which typically |
SPTA1 |
https://ghr.nlm.nih.gov/gene/SPTA1 |
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occur from late childhood to mid-adulthood. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2675212 |
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html:p |
There are four forms of hereditary spherocytosis, which are distinguished by the |
SPTB |
https://ghr.nlm.nih.gov/gene/SPTB |
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severity of signs and symptoms. They are known as the mild form, the moderate |
GTR |
C2678338 |
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form, the moderate/severe form, and the severe form. It is estimated that 20 to |
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30 percent of people with hereditary spherocytosis have the mild form, 60 to 70 |
GTR |
CN068423 |
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percent have the moderate form, 10 percent have the moderate/severe form, and 3 |
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to 5 percent have the severe form. |
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GeneReviews |
epb42-spherocytosis |
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html:p |
People with the mild form may have very mild anemia or sometimes have no |
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symptoms. People with the moderate form typically have anemia, jaundice, and |
ICD-10-CM |
D58.0 |
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splenomegaly. Many also develop gallstones. The signs and symptoms of moderate |
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hereditary spherocytosis usually appear in childhood. Individuals with the |
MeSH |
D013103 |
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moderate/severe form have all the features of the moderate form but also have |
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severe anemia. Those with the severe form have life-threatening anemia that |
OMIM |
182870 |
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requires frequent blood transfusions to replenish their red blood cell supply. |
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They also have severe splenomegaly, jaundice, and a high risk for developing |
OMIM |
182900 |
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gallstones. Some individuals with the severe form have short stature, delayed |
db |
key |
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sexual development, and skeletal abnormalities. |
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OMIM |
270970 |
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db |
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OMIM |
612653 |
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db |
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OMIM |
612690 |
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db |
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Orphanet |
822 |
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Hereditary thrombophilia, Protein C deficiency |
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先天性血栓形成體質 |
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db |
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related-gene-list |
|
SNOMED CT |
55995005 |
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Hereditary xanthinuria |
https://ghr.nlm.nih.gov/condition/hereditary-xanthinuria |
The combined incidence of hereditary xanthinuria types I and II is |
html:p |
Hereditary xanthinuria is a condition that most often affects the kidneys. It is |
ar |
autosomal recessive |
MOCOS |
https://ghr.nlm.nih.gov/gene/MOCOS |
combined deficiency of xanthine dehydrogenase and aldehyde oxidase |
db |
key |
2015-12 |
2017-12-29 |
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遺傳性黃嘌呤尿症 |
estimated to be about 1 in 69,000 people worldwide. However, researchers suspect |
characterized by high levels of a compound called xanthine and very low levels |
related-gene |
gene-symbol |
ghr-page |
xanthine dehydrogenase deficiency |
GTR |
C0268118 |
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that the true incidence may be higher because some affected individuals have no |
of another compound called uric acid in the blood and urine. The excess xanthine |
XDH |
https://ghr.nlm.nih.gov/gene/XDH |
xanthine oxidase deficiency |
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key |
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symptoms and are never diagnosed with the condition. Hereditary xanthinuria |
can accumulate in the kidneys and other tissues. In the kidneys, xanthine forms |
xanthinuria |
GTR |
C1863688 |
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appears to be more common in people of Mediterranean or Middle Eastern ancestry. |
tiny crystals that occasionally build up to create kidney stones. These stones |
XDH deficiency |
db |
key |
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About 150 cases of this condition have been reported in the medical literature. |
can impair kidney function and ultimately cause kidney failure. Related signs |
MeSH |
D008661 |
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and symptoms can include abdominal pain, recurrent urinary tract infections, and |
db |
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blood in the urine (hematuria). Less commonly, xanthine crystals build up in |
OMIM |
278300 |
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the muscles, causing pain and cramping. In some people with hereditary |
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xanthinuria, the condition does not cause any health problems. |
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OMIM |
603592 |
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html:p |
Researchers have described two major forms of hereditary xanthinuria, types I |
db |
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and II. The types are distinguished by the enzymes involved; they have the same |
Orphanet |
3467 |
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signs and symptoms. |
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db |
key |
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Orphanet |
93601 |
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Orphanet |
93602 |
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SNOMED CT |
124147007 |
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db |
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SNOMED CT |
29692004 |
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SNOMED CT |
54627004 |
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related-gene-list |
|
SNOMED CT |
72682008 |
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Hermansky-Pudlak syndrome |
https://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome |
Hermansky-Pudlak syndrome is a rare disorder in most populations and is |
html:p |
Hermansky-Pudlak syndrome is a disorder characterized by a condition called |
ar |
autosomal recessive |
AP3B1 |
https://ghr.nlm.nih.gov/gene/AP3B1 |
HPS |
db |
key |
2014-05 |
2017-12-29 |
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estimated to affect 1 in 500,000 to 1,000,000 individuals worldwide. Type 1 is |
oculocutaneous albinism, which causes abnormally light coloring (pigmentation) |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0079504 |
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more common in Puerto Rico, particularly in the northwestern part of the island |
of the skin, hair, and eyes. Affected individuals typically have fair skin and |
BLOC1S3 |
https://ghr.nlm.nih.gov/gene/BLOC1S3 |
db |
key |
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where about 1 in 1,800 people are affected. Type 3 is common in people from |
white or light-colored hair. People with this disorder have a higher than |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2931875 |
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central Puerto Rico. Groups of affected individuals have been identified in many |
average risk of skin damage and skin cancers caused by long-term sun exposure. |
BLOC1S6 |
https://ghr.nlm.nih.gov/gene/BLOC1S6 |
db |
key |
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other regions, including India, Japan, the United Kingdom, and Western Europe. |
Oculocutaneous albinism reduces pigmentation of the colored part of the eye |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
hps |
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(iris) and the light-sensitive tissue at the back of the eye (retina). Reduced |
DTNBP1 |
https://ghr.nlm.nih.gov/gene/DTNBP1 |
db |
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vision, rapid and involuntary eye movements (nystagmus), and increased |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
E70.331 |
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sensitivity to light (photophobia) are also common in oculocutaneous albinism. |
HPS1 |
https://ghr.nlm.nih.gov/gene/HPS1 |
db |
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In Hermansky-Pudlak syndrome, these vision problems usually remain stable after |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D022861 |
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early childhood. |
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HPS3 |
https://ghr.nlm.nih.gov/gene/HPS3 |
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html:p |
People with Hermansky-Pudlak syndrome also have problems with blood clotting |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
203300 |
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(coagulation) that lead to easy bruising and prolonged bleeding. |
HPS4 |
https://ghr.nlm.nih.gov/gene/HPS4 |
db |
key |
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html:p |
Some individuals with Hermansky-Pudlak syndrome develop breathing problems due |
related-gene |
gene-symbol |
ghr-page |
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Orphanet |
79430 |
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to a lung disease called pulmonary fibrosis, which causes scar tissue to form in |
HPS5 |
https://ghr.nlm.nih.gov/gene/HPS5 |
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the lungs. The symptoms of pulmonary fibrosis usually appear during an |
related-gene |
gene-symbol |
ghr-page |
|
SNOMED CT |
9311003 |
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individual's early thirties and rapidly worsen. Individuals with |
HPS6 |
https://ghr.nlm.nih.gov/gene/HPS6 |
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Hermansky-Pudlak syndrome who develop pulmonary fibrosis often do not live for |
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more than a decade after they begin to experience breathing problems. |
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html:p |
Other, less common features of Hermansky-Pudlak syndrome include inflammation of |
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the large intestine (granulomatous colitis) and kidney failure. |
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html:p |
There are nine different types of Hermansky-Pudlak syndrome, which can be |
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distinguished by their signs and symptoms and underlying genetic cause. Types 1 |
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and 4 are the most severe forms of the disorder. Types 1, 2, and 4 are the only |
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types associated with pulmonary fibrosis. Individuals with type 3, 5, or 6 have |
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the mildest symptoms. Little is known about the signs, symptoms, and severity of |
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types 7, 8, and 9. |
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related-gene-list |
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Heterotaxy syndrome |
https://ghr.nlm.nih.gov/condition/heterotaxy-syndrome |
The prevalence of heterotaxy syndrome is estimated to be 1 in 10,000 people |
html:p |
Heterotaxy syndrome is a condition in which the internal organs are abnormally |
ad |
autosomal dominant |
ACVR2B |
https://ghr.nlm.nih.gov/gene/ACVR2B |
heterotaxy |
db |
key |
2016-01 |
2017-12-29 |
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|
異源性綜合症 |
worldwide. However, researchers suspect that the condition is underdiagnosed, |
arranged in the chest and abdomen. The term "heterotaxy" is from the Greek words |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
HTX |
GTR |
C1844020 |
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and so it may actually be more common than this. Heterotaxy syndrome accounts |
"heteros," meaning "other than," and "taxis," meaning "arrangement." |
ar |
autosomal recessive |
CFAP53 |
https://ghr.nlm.nih.gov/gene/CFAP53 |
Ivemark syndrome |
db |
key |
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for approximately 3 percent of all congenital heart defects. For reasons that |
Individuals with this condition have complex birth defects affecting the heart, |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
left isomerism |
GTR |
C1853444 |
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are unknown, the condition appears to be more common in Asian populations than |
lungs, liver, spleen, intestines, and other organs. |
n |
not inherited |
CFC1 |
https://ghr.nlm.nih.gov/gene/CFC1 |
right isomerism |
db |
key |
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in North America and Europe. Recent studies report that in the United States, |
html:p |
In the normal body, most of the organs in the chest and abdomen have a |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
situs ambiguus |
GTR |
C1853509 |
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the condition occurs more frequently in children born to black or Hispanic |
particular location on the right or left side. For example, the heart, spleen, |
x |
X-linked |
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CITED2 |
https://ghr.nlm.nih.gov/gene/CITED2 |
situs ambiguus viscerum |
db |
key |
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mothers than in children born to white mothers. |
and pancreas are on the left side of the body, and most of the liver is on the |
related-gene |
gene-symbol |
ghr-page |
visceral heterotaxy |
GTR |
C1854334 |
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right. This normal arrangement of the organs is known as "situs solitus." |
CRELD1 |
https://ghr.nlm.nih.gov/gene/CRELD1 |
db |
key |
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Rarely, the orientation of the internal organs is completely flipped from right |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3151057 |
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to left, a situation known as "situs inversus." This mirror-image orientation |
DNAH5 |
https://ghr.nlm.nih.gov/gene/DNAH5 |
db |
key |
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usually does not cause any health problems, unless it occurs as part of a |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3178805 |
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syndrome affecting other parts of the body. Heterotaxy syndrome is an |
DNAH11 |
https://ghr.nlm.nih.gov/gene/DNAH11 |
db |
key |
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arrangement of internal organs somewhere between situs solitus and situs |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3495537 |
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inversus; this condition is also known as "situs ambiguus." Unlike situs |
DNAI1 |
https://ghr.nlm.nih.gov/gene/DNAI1 |
db |
key |
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inversus, the abnormal arrangement of organs in heterotaxy syndrome often causes |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3553676 |
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serious health problems. |
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FOXH1 |
https://ghr.nlm.nih.gov/gene/FOXH1 |
db |
key |
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html:p |
Heterotaxy syndrome alters the structure of the heart, including the attachment |
related-gene |
gene-symbol |
ghr-page |
|
GeneReviews |
pcd |
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of the large blood vessels that carry blood to and from the rest of the body. It |
GATA4 |
https://ghr.nlm.nih.gov/gene/GATA4 |
db |
key |
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can also affect the structure of the lungs, such as the number of lobes in each |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
Q89.3 |
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lung and the length of the tubes (called bronchi) that lead from the windpipe |
GDF1 |
https://ghr.nlm.nih.gov/gene/GDF1 |
db |
key |
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to the lungs. In the abdomen, the condition can cause a person to have no spleen |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D059446 |
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(asplenia) or multiple small, poorly functioning spleens (polysplenia). The |
GJA1 |
https://ghr.nlm.nih.gov/gene/GJA1 |
db |
key |
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liver may lie across the middle of the body instead of being in its normal |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
208530 |
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position to the right of the stomach. Some affected individuals also have |
LEFTY2 |
https://ghr.nlm.nih.gov/gene/LEFTY2 |
db |
key |
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intestinal malrotation, which is an abnormal twisting of the intestines that |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
270100 |
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occurs in the early stages of development before birth. |
MMP21 |
https://ghr.nlm.nih.gov/gene/MMP21 |
db |
key |
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html:p |
Depending on the organs involved, signs and symptoms of heterotaxy syndrome can |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
306955 |
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include a bluish appearance of the skin or lips (cyanosis, which is due to a |
NAT10 |
https://ghr.nlm.nih.gov/gene/NAT10 |
db |
key |
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shortage of oxygen), breathing difficulties, an increased risk of infections, |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
605376 |
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and problems with digesting food. The most serious complications are generally |
NKX2-5 |
https://ghr.nlm.nih.gov/gene/NKX2-5 |
db |
key |
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caused by critical congenital heart disease, a group of complex heart defects |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
606217 |
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that are present from birth. Biliary atresia, a problem with the bile ducts in |
NODAL |
https://ghr.nlm.nih.gov/gene/NODAL |
db |
key |
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the liver, can also cause severe health problems in infancy. Heterotaxy syndrome |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
606325 |
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is often life-threatening in infancy or childhood, even with treatment, |
SESN1 |
https://ghr.nlm.nih.gov/gene/SESN1 |
db |
key |
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although its severity depends on the specific abnormalities involved. |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
613751 |
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SHROOM3 |
https://ghr.nlm.nih.gov/gene/SHROOM3 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
614779 |
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SMAD2 |
https://ghr.nlm.nih.gov/gene/SMAD2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
Orphanet |
137628 |
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ZIC3 |
https://ghr.nlm.nih.gov/gene/ZIC3 |
db |
key |
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Orphanet |
157769 |
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db |
key |
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Orphanet |
97548 |
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db |
key |
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SNOMED CT |
14821001 |
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HFE-Associated Hereditary Hemochromatosis |
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血鐵沈積症 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
8.6E+12 |
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Hidradenitis suppurativa |
https://ghr.nlm.nih.gov/condition/hidradenitis-suppurativa |
Hidradenitis suppurativa was once thought to be a rare condition because |
html:p |
Hidradenitis suppurativa, also known as acne inversa, is a chronic skin disease |
ad |
autosomal dominant |
NCSTN |
https://ghr.nlm.nih.gov/gene/NCSTN |
acne inversa |
db |
key |
2013-12 |
2017-12-29 |
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化膿性汗腺炎 |
only the most severe cases were reported. However, recent studies have shown |
characterized by recurrent boil-like lumps (nodules) under the skin. The nodules |
related-gene |
gene-symbol |
ghr-page |
hidradenitides, suppurative |
GTR |
C1840560 |
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that the condition affects at least 1 in 100 people when milder cases are also |
become inflamed and painful. They tend to break open (rupture), causing |
PSEN1 |
https://ghr.nlm.nih.gov/gene/PSEN1 |
hidradenitis, suppurative |
db |
key |
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considered. For reasons that are unclear, women are about twice as likely as men |
abscesses that drain fluid and pus. As the abscesses heal, they produce |
related-gene |
gene-symbol |
ghr-page |
suppurative hidradenitides |
ICD-10-CM |
L73.2 |
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to develop the condition. |
significant scarring of the skin. |
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PSENEN |
https://ghr.nlm.nih.gov/gene/PSENEN |
suppurative hidradenitis |
db |
key |
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html:p |
The signs and symptoms of hidradenitis suppurativa appear after puberty, usually |
MeSH |
D017497 |
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in a person's teens or twenties. Nodules are most likely to form in the armpits |
db |
key |
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and groin. They may also develop around the anus, on the buttocks, or under the |
OMIM |
142690 |
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breasts. In some cases, nodules appear in other areas, such as the nape of the |
db |
key |
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neck, waist, and inner thighs. |
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OMIM |
613736 |
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html:p |
The recurrent nodules and abscesses cause chronic pain and can lead to |
db |
key |
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self-consciousness, social isolation, and depression. Rarely, nodules on the |
OMIM |
613737 |
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buttocks can develop into a type of skin cancer called squamous cell carcinoma. |
db |
key |
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Orphanet |
387 |
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db |
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related-gene-list |
|
SNOMED CT |
59393003 |
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Hirschsprung disease |
https://ghr.nlm.nih.gov/condition/hirschsprung-disease |
Hirschsprung disease occurs in approximately 1 in 5,000 newborns. |
html:p |
Hirschsprung disease is an intestinal disorder characterized by the absence of |
ad |
autosomal dominant |
EDN3 |
https://ghr.nlm.nih.gov/gene/EDN3 |
aganglionic megacolon |
db |
key |
2012-08 |
2017-12-29 |
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赫普隆氏症 |
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nerves in parts of the intestine. This condition occurs when the nerves in the |
related-gene |
gene-symbol |
ghr-page |
congenital intestinal aganglionosis |
GTR |
C1838564 |
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congenital megacolon |
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intestine (enteric nerves) do not form properly during development before birth |
EDNRB |
https://ghr.nlm.nih.gov/gene/EDNRB |
congenital megacolon |
db |
key |
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先天性巨結腸症 |
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(embryonic development). This condition is usually identified in the first two |
related-gene |
gene-symbol |
ghr-page |
Hirschsprung's disease |
GTR |
C2931739 |
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months of life, although less severe cases may be diagnosed later in childhood. |
GDNF |
https://ghr.nlm.nih.gov/gene/GDNF |
HSCR |
db |
key |
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html:p |
Enteric nerves trigger the muscle contractions that move stool through the |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2931876 |
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intestine. Without these nerves in parts of the intestine, the material cannot |
NRG1 |
https://ghr.nlm.nih.gov/gene/NRG1 |
db |
key |
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be pushed through, causing severe constipation or complete blockage of the |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3150975 |
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intestine in people with Hirschsprung disease. Other signs and symptoms of this |
NRTN |
https://ghr.nlm.nih.gov/gene/NRTN |
db |
key |
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condition include vomiting, abdominal pain or swelling, diarrhea, poor feeding, |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
hirschsprung-ov |
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malnutrition, and slow growth. People with this disorder are at risk of |
RET |
https://ghr.nlm.nih.gov/gene/RET |
db |
key |
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developing more serious conditions such as inflammation of the intestine |
ICD-10-CM |
Q43.1 |
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(enterocolitis) or a hole in the wall of the intestine (intestinal perforation), |
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db |
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which can cause serious infection and may be fatal. |
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MeSH |
D006627 |
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html:p |
There are two main types of Hirschsprung disease, known as short-segment disease |
db |
key |
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and long-segment disease, which are defined by the region of the intestine |
OMIM |
142623 |
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lacking nerve cells. In short-segment disease, nerve cells are missing from only |
db |
key |
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the last segment of the large intestine. This type is most common, occurring in |
OMIM |
600155 |
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approximately 80 percent of people with Hirschsprung disease. For unknown |
db |
key |
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reasons, short-segment disease is four times more common in men than in women. |
OMIM |
613711 |
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Long-segment disease occurs when nerve cells are missing from most of the large |
db |
key |
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intestine and is the more severe type. Long-segment disease is found in |
|
OMIM |
613712 |
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approximately 20 percent of people with Hirschsprung disease and affects men and |
db |
key |
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women equally. Very rarely, nerve cells are missing from the entire large |
|
SNOMED CT |
204739008 |
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intestine and sometimes part of the small intestine (total colonic |
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db |
key |
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aganglionosis) or from all of the large and small intestine (total intestinal |
|
SNOMED CT |
253780003 |
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aganglionosis). |
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html:p |
Hirschsprung disease can occur in combination with other conditions, such as |
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Waardenburg syndrome, type IV; Mowat-Wilson syndrome; or congenital central |
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hypoventilation syndrome. These cases are described as syndromic. Hirschsprung |
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disease can also occur without other conditions, and these cases are referred to |
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as isolated or nonsyndromic. |
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related-gene-list |
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Histidinemia |
https://ghr.nlm.nih.gov/condition/histidinemia |
Estimates of the incidence of histidinemia vary widely, ranging between 1 |
html:p |
Histidinemia is an inherited condition characterized by elevated blood levels of |
ar |
autosomal recessive |
HAL |
https://ghr.nlm.nih.gov/gene/HAL |
HAL deficiency |
db |
key |
2009-08 |
2017-12-29 |
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|
组氨酸血症 |
in 8,600 to 1 in 90,000 people. |
the amino acid histidine, a building block of most proteins. Histidinemia is |
HIS deficiency |
GTR |
C0220992 |
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caused by the shortage (deficiency) of the enzyme that breaks down histidine. |
histidase deficiency |
db |
key |
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Histidinemia typically causes no health problems, and most people with elevated |
histidine ammonia-lyase deficiency |
ICD-10-CM |
E70.41 |
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histidine levels are unaware that they have this condition. |
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hyperhistidinemia |
db |
key |
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html:p |
The combination of histidinemia and a medical complication during or soon after |
MeSH |
D000592 |
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birth (such as a temporary lack of oxygen) might increase a person's chances of |
db |
key |
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developing intellectual disability, behavioral problems, or learning disorders. |
OMIM |
235800 |
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db |
key |
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Orphanet |
2157 |
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db |
key |
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|
SNOMED CT |
124628005 |
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db |
key |
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inheritance-pattern-list |
related-gene-list |
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SNOMED CT |
410058007 |
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Histiocytosis-lymphadenopathy plus syndrome |
https://ghr.nlm.nih.gov/condition/histiocytosis-lymphadenopathy-plus-syndrome |
Histiocytosis-lymphadenopathy plus syndrome is a rare disorder, affecting |
html:p |
html:i |
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ar |
autosomal recessive |
SLC29A3 |
synonym |
db-key |
db |
key |
2014-12 |
2017-12-29 |
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approximately 100 individuals worldwide. |
SLC29A3 |
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synonym |
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GTR |
C1864445 |
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db-key |
db |
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MeSH |
D015614 |
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db-key |
db |
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OMIM |
602782 |
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db-key |
db |
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Orphanet |
158014 |
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db-key |
db |
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Orphanet |
168569 |
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db-key |
db |
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html:p |
A feature common to the disorders in this spectrum is histiocytosis, which is |
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SNOMED CT |
711159002 |
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the overgrowth of immune system cells called histiocytes. The cells abnormally |
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accumulate in one or more tissues in the body, which can lead to organ or tissue |
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damage. The buildup often occurs in the lymph nodes, leading to swelling of the |
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lymph nodes (lymphadenopathy). Other areas of cell accumulation can include the |
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skin, kidneys, brain and spinal cord (central nervous system), or digestive |
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tract. |
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html:p |
This spectrum is known as histiocytosis-lymphadenopathy plus syndrome because |
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the disorders that make up the spectrum can have additional signs and symptoms. |
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A characteristic feature of H syndrome is abnormal patches of skin (lesions), |
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typically on the lower body. These lesions are unusually dark (hyperpigmented) |
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and have excessive hair growth (hypertrichosis). In addition, histiocytes |
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accumulate at the site of the skin lesions. Other features of H syndrome include |
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enlargement of the liver (hepatomegaly), heart abnormalities, hearing loss, |
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reduced amounts of hormones that direct sexual development (hypogonadism), and |
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short stature. |
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html:p |
Like H syndrome, PHID causes patches of hyperpigmented skin with hypertrichosis. |
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PHID is also characterized by the development of type 1 diabetes (also known as |
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insulin-dependent diabetes mellitus), which usually begins in childhood. Type 1 |
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diabetes occurs when the body does not produce enough of the hormone insulin, |
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leading to dysregulation of blood sugar levels. |
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html:p |
Faisalabad histiocytosis typically causes lymphadenopathy and swelling of the |
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eyelids due to accumulation of histiocytes. Affected individuals can also have |
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joint deformities called contractures in their fingers or toes and hearing loss. |
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html:p |
The most common feature of familial Rosai-Dorfman disease is lymphadenopathy, |
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usually affecting lymph nodes in the neck. Histiocytes can also accumulate in |
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other parts of the body. |
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inheritance-pattern-list |
related-gene-list |
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HIVEP2-related intellectual disability |
https://ghr.nlm.nih.gov/condition/hivep2-related-intellectual-disability |
HIVEP2-related intellectual disability is a rare disorder. At least nine |
html:p |
html:i |
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ad |
autosomal dominant |
ghr-page |
mental retardation, autosomal dominant 43 |
db-key |
db |
key |
2017-01 |
2017-12-29 |
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individuals with the condition have been described in the medical literature. |
HIVEP2 |
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https://ghr.nlm.nih.gov/gene/HIVEP2 |
MRD43 |
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MeSH |
D008607 |
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db-key |
db |
key |
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OMIM |
616977 |
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-related intellectual disability also have unusual physical features, such as |
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widely spaced eyes (hypertelorism), a broad nasal bridge, or fingers with |
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tapered ends, although there is no characteristic pattern of such features among |
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affected individuals. Many people with the condition exhibit behavioral |
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problems, such as hyperactivity, attention deficit disorder, aggression, |
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anxiety, and autism spectrum disorder, which is a group of developmental |
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disorders characterized by impaired communication and social interaction. |
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html:p |
html:i |
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HIVEP2 |
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-related intellectual disability have gastrointestinal problems, which can |
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include backflow of acidic stomach contents into the esophagus (gastroesophageal |
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reflux) and constipation. |
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related-gene-list |
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Holocarboxylase synthetase deficiency |
https://ghr.nlm.nih.gov/condition/holocarboxylase-synthetase-deficiency |
The exact incidence of this condition is unknown, but it is estimated to |
html:p |
Holocarboxylase synthetase deficiency is an inherited disorder in which the body |
ar |
autosomal recessive |
HLCS |
https://ghr.nlm.nih.gov/gene/HLCS |
Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency |
db |
key |
2007-06 |
2017-12-29 |
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全羧化酶合成酶缺乏症 |
affect 1 in 87,000 people. |
is unable to use the vitamin biotin effectively. This disorder is classified |
Early-Onset Combined Carboxylase Deficiency |
GTR |
C0268581 |
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as a multiple carboxylase deficiency (多發性羧化酶缺乏症 (多發性生物素輔酶酵素缺乏症)), a group of disorders characterized by |
HLCS deficiency |
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impaired activity of certain enzymes that depend on biotin. |
Infantile Multiple Carboxylase Deficiency |
ICD-10-CM |
D81.818 |
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html:p |
The signs and symptoms of holocarboxylase synthetase deficiency typically appear |
Multiple Carboxylase Deficiency, Neonatal Form |
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within the first few months of life, but the age of onset varies. Affected |
MeSH |
D028922 |
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infants often have difficulty feeding, breathing problems, a skin rash, hair |
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loss (alopecia), and a lack of energy (lethargy). Immediate treatment and |
OMIM |
253270 |
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lifelong management with biotin supplements may prevent many of these |
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complications. If left untreated, the disorder can lead to delayed development, |
Orphanet |
148 |
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seizures, and coma. These medical problems may be life-threatening in some |
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cases. |
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SNOMED CT |
15307001 |
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Holoprosencephaly, HPE |
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前腦發育畸形 |
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related-gene-list |
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Holt-Oram syndrome |
https://ghr.nlm.nih.gov/condition/holt-oram-syndrome |
Holt-Oram syndrome is estimated to affect 1 in 100,000 individuals. |
html:p |
Holt-Oram syndrome is characterized by skeletal abnormalities of the hands and |
ad |
autosomal dominant |
TBX5 |
https://ghr.nlm.nih.gov/gene/TBX5 |
atrio-digital syndrome |
db |
key |
2014-06 |
2017-12-29 |
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Holt-Oram氏综合征 |
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arms (upper limbs) and heart problems. |
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atriodigital dysplasia |
GTR |
C0265264 |
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心手症候群 |
|
html:p |
People with Holt-Oram syndrome have abnormally developed bones in their upper |
cardiac-limb syndrome |
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limbs. At least one abnormality in the bones of the wrist (carpal bones) is |
heart-hand syndrome, type 1 |
GeneReviews |
hos |
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present in affected individuals. Often, these wrist bone abnormalities can be |
HOS |
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detected only by x-ray. Individuals with Holt-Oram syndrome may have additional |
ventriculo-radial syndrome |
MeSH |
D006330 |
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bone abnormalities including a missing thumb, a long thumb that looks like a |
db |
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finger, partial or complete absence of bones in the forearm, an underdeveloped |
MeSH |
D038062 |
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bone of the upper arm, and abnormalities of the collar bone or shoulder blades. |
db |
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These skeletal abnormalities may affect one or both of the upper limbs. If both |
OMIM |
142900 |
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upper limbs are affected, the bone abnormalities can be the same or different on |
db |
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each side. In cases where the skeletal abnormalities are not the same on both |
Orphanet |
392 |
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sides of the body, the left side is usually more severely affected than the |
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right side. |
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SNOMED CT |
19092004 |
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html:p |
About 75 percent of individuals with Holt-Oram syndrome have heart (cardiac) |
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problems, which can be life-threatening. The most common problem is a defect in |
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the muscular wall (septum) that separates the right and left sides of the heart. |
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A hole in the septum between the upper chambers of the heart (atria) is called |
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an atrial septal defect (ASD), and a hole in the septum between the lower |
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chambers of the heart (ventricles) is called a ventricular septal defect (VSD). |
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Some people with Holt-Oram syndrome have cardiac conduction disease, which is |
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caused by abnormalities in the electrical system that coordinates contractions |
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of the heart chambers. Cardiac conduction disease can lead to problems such as a |
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slower-than-normal heart rate (bradycardia) or a rapid and uncoordinated |
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contraction of the heart muscle (fibrillation). Cardiac conduction disease can |
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occur along with other heart defects (such as ASD or VSD) or as the only heart |
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problem in people with Holt-Oram syndrome. |
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html:p |
The features of Holt-Oram syndrome are similar to those of a condition called |
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Duane-radial ray syndrome; however, these two disorders are caused by mutations |
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in different genes. |
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related-gene-list |
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Homocystinuria |
https://ghr.nlm.nih.gov/condition/homocystinuria |
The most common form of homocystinuria affects at least 1 in 200,000 to |
html:p |
Homocystinuria is an inherited disorder in which the body is unable to process |
ar |
autosomal recessive |
CBS |
https://ghr.nlm.nih.gov/gene/CBS |
cystathionine beta synthase deficiency |
db |
key |
2016-03 |
2017-12-29 |
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高胱胺酸尿症 |
335,000 people worldwide. The disorder appears to be more common in some |
certain building blocks of proteins (amino acids) properly. There are multiple |
related-gene |
gene-symbol |
ghr-page |
homocysteinemia |
GTR |
C0019880 |
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countries, such as Ireland (1 in 65,000), Germany (1 in 17,800), Norway (1 in |
forms of homocystinuria, which are distinguished by their signs and symptoms and |
MMADHC |
https://ghr.nlm.nih.gov/gene/MMADHC |
db |
key |
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6,400), and Qatar (1 in 1,800). The rarer forms of homocystinuria each have a |
genetic cause. The most common form of homocystinuria is characterized by |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1848553 |
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small number of cases reported in the scientific literature. |
nearsightedness (myopia), dislocation of the lens at the front of the eye, an |
MTHFR |
https://ghr.nlm.nih.gov/gene/MTHFR |
db |
key |
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increased risk of abnormal blood clotting, and brittle bones that are prone to |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1856058 |
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fracture (osteoporosis) or other skeletal abnormalities. Some affected |
MTR |
https://ghr.nlm.nih.gov/gene/MTR |
db |
key |
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individuals also have developmental delay and learning problems. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3150344 |
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html:p |
Less common forms of homocystinuria can cause intellectual disability, failure |
MTRR |
https://ghr.nlm.nih.gov/gene/MTRR |
db |
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to grow and gain weight at the expected rate (failure to thrive), seizures, |
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GeneReviews |
cbl |
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problems with movement, and a blood disorder called megaloblastic anemia. |
db |
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Megaloblastic anemia occurs when a person has a low number of red blood cells |
GeneReviews |
homocystinuria |
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(anemia), and the remaining red blood cells are larger than normal |
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db |
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(megaloblastic). |
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ICD-10-CM |
E72.11 |
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html:p |
The signs and symptoms of homocystinuria typically develop within the first year |
db |
key |
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of life, although some mildly affected people may not develop features until |
ICD-10-CM |
E72.12 |
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later in childhood or adulthood. |
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db |
key |
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MeSH |
D006712 |
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db |
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OMIM |
236200 |
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db |
key |
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OMIM |
236250 |
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db |
key |
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OMIM |
236270 |
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db |
key |
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OMIM |
250940 |
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db |
key |
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OMIM |
277410 |
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db |
key |
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Orphanet |
394 |
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db |
key |
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Orphanet |
395 |
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db |
key |
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Orphanet |
622 |
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db |
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SNOMED CT |
11282001 |
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db |
key |
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SNOMED CT |
24308003 |
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db |
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SNOMED CT |
28093001 |
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Homozygous familial hypercholestrolemia |
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同合子家族性高膽固醇血症 |
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db |
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related-gene-list |
|
SNOMED CT |
360373000 |
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Horizontal gaze palsy with progressive scoliosis |
https://ghr.nlm.nih.gov/condition/horizontal-gaze-palsy-with-progressive-scoliosis |
HGPPS has been reported in several dozen families worldwide. |
html:p |
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a disorder that |
ar |
autosomal recessive |
ROBO3 |
https://ghr.nlm.nih.gov/gene/ROBO3 |
familial horizontal gaze palsy with progressive scoliosis |
db |
key |
2009-03 |
2017-12-29 |
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affects vision and also causes an abnormal curvature of the spine (scoliosis). |
familial idiopathic scoliosis associated with congenital encephalopathy |
GTR |
C1846496 |
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People with this condition are unable to move their eyes side-to-side |
familial infantile scoliosis associated with bilateral paralysis of conjugate |
db |
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(horizontally). As a result, affected individuals must turn their head instead |
gaze |
MeSH |
D012600 |
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of moving their eyes to track moving objects. Up-and-down (vertical) eye |
gaze palsy, familial horizontal, with progressive scoliosis |
db |
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movements are typically normal. |
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HGPPS |
MeSH |
D015785 |
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html:p |
In people with HGPPS, an abnormal side-to-side curvature of the spine develops |
ophthalmoplegia, progressive external, and scoliosis |
db |
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in infancy or childhood. It tends to be moderate to severe and worsens over |
OMIM |
607313 |
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time. Because the abnormal spine position can be painful and interfere with |
db |
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movement, it is often treated with surgery early in life. |
|
|
Orphanet |
2744 |
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db |
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synonym-list |
db-key-list |
|
SNOMED CT |
702381007 |
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Horner syndrome |
https://ghr.nlm.nih.gov/condition/horner-syndrome |
About 1 in 6,250 babies are born with Horner syndrome. The incidence of |
html:p |
Horner syndrome is a disorder that affects the eye and surrounding tissues on |
ad |
autosomal dominant |
synonym |
Horner's syndrome |
key |
2017-12-29 |
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|
霍納氏症候群 |
Horner syndrome that appears later is unknown, but it is considered an uncommon |
one side of the face and results from paralysis of certain nerves. Horner |
synonym |
oculosympathetic palsy |
db-key |
C1840475 |
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disorder. |
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syndrome can appear at any time of life; in about 5 percent of affected |
synonym |
von Passow syndrome |
key |
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individuals, the disorder is present from birth (congenital). |
db-key |
G90.2 |
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html:p |
Horner syndrome is characterized by drooping of the upper eyelid (ptosis) on the |
key |
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affected side, a constricted pupil in the affected eye (miosis) resulting in |
db-key |
D006732 |
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unequal pupil size (anisocoria), and absent sweating (anhidrosis) on the |
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affected side of the face. Sinking of the eye into its cavity (enophthalmos) and |
db-key |
143000 |
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a bloodshot eye often occur in this disorder. In people with Horner syndrome |
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that occurs before the age of 2, the colored part (iris) of the eyes may differ |
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164018003 |
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in color (iris heterochromia), with the iris of the affected eye being lighter |
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in color than that of the unaffected eye. Individuals who develop Horner |
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192915005 |
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syndrome after age 2 do not generally have iris heterochromia. |
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html:p |
The abnormalities in the eye area related to Horner syndrome do not generally |
271730003 |
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affect vision or health. However, the nerve damage that causes Horner syndrome |
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may result from other health problems, some of which can be life-threatening. |
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related-gene-list |
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Huntington disease |
https://ghr.nlm.nih.gov/condition/huntington-disease |
Huntington disease affects an estimated 3 to 7 per 100,000 people of |
html:p |
Huntington disease is a progressive brain disorder that causes uncontrolled |
ad |
autosomal dominant |
HTT |
https://ghr.nlm.nih.gov/gene/HTT |
Huntington chorea |
db |
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2013-06 |
2017-12-29 |
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亨丁頓舞蹈症 |
European ancestry. The disorder appears to be less common in some other |
movements, emotional problems, and loss of thinking ability (cognition). |
Huntington chronic progressive hereditary chorea |
GTR |
C0020179 |
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populations, including people of Japanese, Chinese, and African descent. |
html:p |
Adult-onset Huntington disease, the most common form of this disorder, usually |
Huntington's chorea |
db |
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appears in a person's thirties or forties. Early signs and symptoms can include |
Huntington's disease |
GTR |
C0751208 |
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irritability, depression, small involuntary movements, poor coordination, and |
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trouble learning new information or making decisions. Many people with |
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GeneReviews |
huntington |
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Huntington disease develop involuntary jerking or twitching movements known as |
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chorea. As the disease progresses, these movements become more pronounced. |
ICD-10-CM |
G10 |
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Affected individuals may have trouble walking, speaking, and swallowing. People |
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with this disorder also experience changes in personality and a decline in |
MeSH |
D006816 |
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thinking and reasoning abilities. Individuals with the adult-onset form of |
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Huntington disease usually live about 15 to 20 years after signs and symptoms |
OMIM |
143100 |
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begin. |
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html:p |
A less common form of Huntington disease known as the juvenile form begins in |
Orphanet |
399 |
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childhood or adolescence. It also involves movement problems and mental and |
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emotional changes. Additional signs of the juvenile form include slow movements, |
SNOMED CT |
230299004 |
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clumsiness, frequent falling, rigidity, slurred speech, and drooling. School |
db |
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performance declines as thinking and reasoning abilities become impaired. |
SNOMED CT |
230300007 |
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Seizures occur in 30 percent to 50 percent of children with this condition. |
db |
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Juvenile Huntington disease tends to progress more quickly than the adult-onset |
SNOMED CT |
58756001 |
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form; affected individuals usually live 10 to 15 years after signs and symptoms |
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appear. |
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related-gene-list |
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Huntington disease-like syndrome |
https://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome |
Overall, HDL syndromes are rare. They are much less common than Huntington |
html:p |
As its name suggests, a Huntington disease-like (HDL) syndrome is a condition |
ad |
autosomal dominant |
JPH3 |
https://ghr.nlm.nih.gov/gene/JPH3 |
Huntington disease-like syndromes |
db |
key |
2008-08 |
2017-12-29 |
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disease, which affects an estimated 3 to 7 per 100,000 people of European |
that resembles Huntington disease. Researchers have described four HDL |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Huntington's disease-like syndromes |
GTR |
C1846707 |
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ancestry.Of the four described HDL syndromes, HDL4 appears to be the most |
syndromes, designated Huntington disease-like 1 (HDL1) through Huntington |
ar |
autosomal recessive |
PRNP |
https://ghr.nlm.nih.gov/gene/PRNP |
Huntington's disease phenocopies |
db |
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common. HDL2 is the second most common and occurs almost exclusively in people |
disease-like 4 (HDL4). These progressive brain disorders are characterized by |
related-gene |
gene-symbol |
ghr-page |
Huntington's disease phenocopy syndromes |
GTR |
C1847987 |
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of African heritage (especially black South Africans). HDL1 has been reported |
uncontrolled movements, emotional problems, and loss of thinking ability. HDL |
TBP |
https://ghr.nlm.nih.gov/gene/TBP |
db |
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in only one family. HDL3 has been found in two families, both of which were |
syndromes occur in people with the characteristic features of Huntington disease |
GTR |
C1858114 |
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from Saudi Arabia. |
who do not have a mutation in HD, the gene typically associated with that |
db |
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disorder. |
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GTR |
C1864112 |
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html:p |
HDL1, HDL2, and HDL4 usually appear in early to mid-adulthood, although they can |
db |
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begin earlier in life. The first signs and symptoms of these conditions often |
GeneReviews |
hd-l2 |
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include irritability, emotional problems, small involuntary movements, poor |
db |
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coordination, and trouble learning new information or making decisions. Many |
GeneReviews |
sca17 |
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affected people develop involuntary jerking or twitching movements known as |
db |
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chorea. As the disease progresses, these abnormal movements become more |
MeSH |
D006816 |
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pronounced. Affected individuals may develop problems with walking, speaking, |
db |
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and swallowing. People with these disorders also experience changes in |
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MeSH |
D020271 |
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personality and a decline in thinking and reasoning abilities. Individuals with |
db |
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an HDL syndrome can live for a few years to more than a decade after signs and |
OMIM |
603218 |
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symptoms begin. |
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db |
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html:p |
HDL3 begins much earlier in life than most of the other HDL syndromes (usually |
OMIM |
604802 |
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around age 3 or 4). Affected children experience a decline in thinking ability, |
db |
key |
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difficulties with movement and speech, and seizures. Because HDL3 has a |
OMIM |
606438 |
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somewhat different pattern of signs and symptoms and a different pattern of |
db |
key |
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inheritance, researchers are unsure whether it belongs in the same category as |
OMIM |
607136 |
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the other HDL syndromes. |
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Orphanet |
158266 |
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related-gene-list |
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SNOMED CT |
702376003 |
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Hutchinson-Gilford progeria syndrome |
https://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome |
This condition is very rare; it is reported to occur in 1 in 4 million |
html:p |
Hutchinson-Gilford progeria syndrome is a genetic condition characterized by the |
ad |
autosomal dominant |
LMNA |
https://ghr.nlm.nih.gov/gene/LMNA |
HGPS |
db |
key |
2016-05 |
2017-12-29 |
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早年衰老症候群 |
newborns worldwide. More than 130 cases have been reported in the scientific |
dramatic, rapid appearance of aging beginning in childhood. Affected children |
Hutchinson-Gilford syndrome |
GTR |
C0033300 |
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literature since the condition was first described in 1886. |
typically look normal at birth and in early infancy, but then grow more slowly |
progeria |
db |
key |
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than other children and do not gain weight at the expected rate (failure to |
progeria of childhood |
GTR |
C2750285 |
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thrive). They develop a characteristic facial appearance including prominent |
db |
key |
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eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding |
GTR |
C4016241 |
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ears. Hutchinson-Gilford progeria syndrome also causes hair loss (alopecia), |
db |
key |
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aged-looking skin, joint abnormalities, and a loss of fat under the skin |
|
GeneReviews |
hgps |
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(subcutaneous fat). This condition does not affect intellectual development or |
db |
key |
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the development of motor skills such as sitting, standing, and walking. |
|
MeSH |
D011371 |
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html:p |
People with Hutchinson-Gilford progeria syndrome experience severe hardening of |
db |
key |
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the arteries (arteriosclerosis) beginning in childhood. This condition greatly |
OMIM |
176670 |
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increases the chances of having a heart attack or stroke at a young age. These |
db |
key |
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serious complications can worsen over time and are life-threatening for affected |
Orphanet |
740 |
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individuals. |
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db |
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Hydroxyprolinemia |
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高羥脯氨酸血症 |
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related-gene-list |
|
SNOMED CT |
238870004 |
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Hypercholesterolemia |
https://ghr.nlm.nih.gov/condition/hypercholesterolemia |
More than 34 million American adults have elevated blood cholesterol levels |
html:p |
Hypercholesterolemia is a condition characterized by very high levels of |
ad |
autosomal dominant |
APOB |
https://ghr.nlm.nih.gov/gene/APOB |
Elevated cholesterol |
db |
key |
2007-03 |
2017-12-29 |
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高胆固醇血症 |
(higher than 240 mg/dL). Inherited forms of hypercholesterolemia, which cause |
cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0020445 |
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even higher levels of cholesterol, occur less frequently. The most common |
produced in the body and obtained from foods that come from animals |
ar |
autosomal recessive |
LDLR |
https://ghr.nlm.nih.gov/gene/LDLR |
db |
key |
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inherited form of high cholesterol is called familial hypercholesterolemia. |
(particularly egg yolks, meat, poultry, fish, and dairy products). The body |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1704417 |
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This condition affects about 1 in 500 people in most countries. Familial |
needs this substance to build cell membranes, make certain hormones, and produce |
LDLRAP1 |
https://ghr.nlm.nih.gov/gene/LDLRAP1 |
db |
key |
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hypercholesterolemia occurs more frequently in certain populations, including |
compounds that aid in fat digestion. Too much cholesterol, however, increases a |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1863512 |
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Afrikaners in South Africa, French Canadians, Lebanese, and Finns. |
person's risk of developing heart disease. |
PCSK9 |
https://ghr.nlm.nih.gov/gene/PCSK9 |
db |
key |
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html:p |
People with hypercholesterolemia have a high risk of developing a form of heart |
GTR |
C1863551 |
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disease called coronary artery disease. This condition occurs when excess |
db |
key |
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cholesterol in the bloodstream is deposited in the walls of blood vessels, |
|
GeneReviews |
hyperchol |
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particularly in the arteries that supply blood to the heart (coronary arteries). |
db |
key |
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The abnormal buildup of cholesterol forms clumps (plaque) that narrow and |
ICD-10-CM |
E78.0 |
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harden artery walls. As the clumps get bigger, they can clog the arteries and |
db |
key |
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restrict the flow of blood to the heart. The buildup of plaque in coronary |
|
MeSH |
D006937 |
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arteries causes a form of chest pain called angina and greatly increases a |
db |
key |
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person's risk of having a heart attack. |
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OMIM |
143890 |
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html:p |
Inherited forms of hypercholesterolemia can also cause health problems related |
db |
key |
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to the buildup of excess cholesterol in other tissues. If cholesterol |
|
OMIM |
144010 |
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accumulates in tendons, it causes characteristic growths called tendon |
|
db |
key |
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xanthomas. These growths most often affect the Achilles tendons and tendons in |
OMIM |
603776 |
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the hands and fingers. Yellowish cholesterol deposits under the skin of the |
db |
key |
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eyelids are known as xanthelasmata. Cholesterol can also accumulate at the |
OMIM |
603813 |
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edges of the clear, front surface of the eye (the cornea), leading to a |
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db |
key |
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gray-colored ring called an arcus cornealis. |
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Orphanet |
406 |
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db |
key |
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|
SNOMED CT |
238076009 |
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db |
key |
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SNOMED CT |
238081000 |
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db |
key |
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SNOMED CT |
397915002 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
398036000 |
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Hyperferritinemia-cataract syndrome |
https://ghr.nlm.nih.gov/condition/hyperferritinemia-cataract-syndrome |
Hyperferritinemia-cataract syndrome has been estimated to occur in 1 in |
html:p |
Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of |
ad |
autosomal dominant |
FTL |
https://ghr.nlm.nih.gov/gene/FTL |
Bonneau-Beaumont syndrome |
db |
key |
2012-08 |
2017-12-29 |
|
|
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(Blood) |
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200,000 individuals. |
an iron storage protein called ferritin in the blood (hyperferritinemia) and |
hereditary hyperferritinemia-cataract syndrome |
GTR |
C1833213 |
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tissues of the body. A buildup of this protein begins early in life, leading to |
hereditary hyperferritinemia with congenital cataracts |
db |
key |
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clouding of the lenses of the eyes (cataracts). In affected individuals, |
HHCS |
MeSH |
D019189 |
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cataracts usually develop in infancy, rather than after age 60 as typically |
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db |
key |
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occurs in the general population. Cataracts that are not removed surgically |
OMIM |
600886 |
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cause progressive dimming and blurriness of vision because the clouded lenses |
db |
key |
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reduce and distort incoming light. |
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Orphanet |
163 |
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html:p |
Although the hyperferritinemia in this disorder does not usually cause any |
db |
key |
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health problems other than cataracts, the elevated ferritin levels in the blood |
SNOMED CT |
702398007 |
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can be mistaken for a sign of certain liver disorders. These conditions result |
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in excess iron in the body and may be treated by blood-drawing. However, |
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individuals with hyperferritinemia-cataract syndrome do not have an excess of |
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iron, and with repeated blood draws will develop reduced iron levels leading to |
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a low number of red blood cells (anemia). Therefore, correct diagnosis of |
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hyperferritinemia-cataract syndrome is important to avoid unnecessary treatments |
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or invasive test procedures such as liver biopsies. |
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related-gene-list |
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Hyperkalemic periodic paralysis |
https://ghr.nlm.nih.gov/condition/hyperkalemic-periodic-paralysis |
Hyperkalemic periodic paralysis affects an estimated 1 in 200,000 people. |
html:p |
Hyperkalemic periodic paralysis is a condition that causes episodes of extreme |
ad |
autosomal dominant |
SCN4A |
https://ghr.nlm.nih.gov/gene/SCN4A |
adynamia episodica hereditaria |
db |
key |
2013-08 |
2017-12-29 |
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低血鉀週期性麻痺症 |
|
muscle weakness or paralysis, usually beginning in infancy or early childhood. |
familial hyperkalemic periodic paralysis |
GTR |
C0238357 |
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Most often, these episodes involve a temporary inability to move muscles in the |
Gamstorp disease |
db |
key |
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arms and legs. Episodes tend to increase in frequency until mid-adulthood, after |
Gamstorp episodic adynamy |
GTR |
CN074266 |
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which they occur less frequently. Factors that can trigger attacks include rest |
hyperKPP |
db |
key |
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after exercise, potassium-rich foods such as bananas and potatoes, stress, |
hyperPP |
GeneReviews |
hyper-pp |
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fatigue, alcohol, pregnancy, exposure to cold temperatures, certain medications, |
primary hyperkalemic periodic paralysis |
db |
key |
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and periods without food (fasting). Muscle strength usually returns to normal |
ICD-10-CM |
G72.3 |
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between attacks, although many affected people continue to experience mild |
db |
key |
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stiffness (myotonia), particularly in muscles of the face and hands. |
|
MeSH |
D020513 |
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html:p |
Most people with hyperkalemic periodic paralysis have increased levels of |
db |
key |
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potassium in their blood (hyperkalemia) during attacks. Hyperkalemia results |
OMIM |
170500 |
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when the weak or paralyzed muscles release potassium ions into the bloodstream. |
db |
key |
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In other cases, attacks are associated with normal blood potassium levels |
Orphanet |
682 |
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(normokalemia). Ingesting potassium can trigger attacks in affected individuals, |
db |
key |
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even if blood potassium levels do not go up. |
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SNOMED CT |
304737009 |
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related-gene-list |
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Hyperlysinemia |
https://ghr.nlm.nih.gov/condition/hyperlysinemia |
The incidence of hyperlysinemia is unknown. |
html:p |
Hyperlysinemia is an inherited condition characterized by elevated blood levels |
ar |
autosomal recessive |
AASS |
https://ghr.nlm.nih.gov/gene/AASS |
alpha-aminoadipic semialdehyde deficiency disease |
db |
key |
2009-08 |
2017-12-29 |
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|
高離氨酸血症 |
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of the amino acid lysine, a building block of most proteins. Hyperlysinemia is |
familial hyperlysinemia |
GTR |
C0268553 |
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caused by the shortage (deficiency) of the enzyme that breaks down lysine. |
lysine alpha-ketoglutarate reductase deficiency disease |
db |
key |
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Hyperlysinemia typically causes no health problems, and most people with |
saccharopine dehydrogenase deficiency disease |
GTR |
C0268556 |
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elevated lysine levels are unaware that they have this condition. Rarely, |
saccharopinuria |
db |
key |
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people with hyperlysinemia have intellectual disability or behavioral problems. |
ICD-10-CM |
E72.3 |
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It is not clear whether these problems are due to hyperlysinemia or another |
db |
key |
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cause. |
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MeSH |
D020167 |
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db |
key |
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OMIM |
238700 |
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db |
key |
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OMIM |
268700 |
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db |
key |
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Orphanet |
2203 |
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db |
key |
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|
SNOMED CT |
111397004 |
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db |
key |
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|
SNOMED CT |
340519003 |
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db |
key |
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SNOMED CT |
341536001 |
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db |
key |
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|
SNOMED CT |
342553006 |
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db |
key |
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|
SNOMED CT |
58558003 |
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related-gene-list |
|
SNOMED CT |
66002008 |
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Hypermanganesemia with dystonia |
https://ghr.nlm.nih.gov/condition/hypermanganesemia-with-dystonia |
The prevalence of hypermanganesemia with dystonia is unknown. A small |
html:p |
Hypermanganesemia with dystonia is an inherited disorder in which excessive |
ar |
autosomal recessive |
SLC30A10 |
https://ghr.nlm.nih.gov/gene/SLC30A10 |
familial manganese-induced neurotoxicity |
db |
key |
2017-10 |
2017-12-29 |
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number of cases of each type have been described in the scientific literature. |
amounts of the element manganese accumulate in the body (hypermanganesemia). One |
related-gene |
gene-symbol |
ghr-page |
HMNDYT |
GTR |
C2750442 |
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place manganese builds up in particular is in a region of the brain responsible |
SLC39A14 |
https://ghr.nlm.nih.gov/gene/SLC39A14 |
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for the coordination of movement, causing neurological problems that make |
GTR |
C4310765 |
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controlling movement difficult. Consequently, the condition is characterized by |
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involuntary, sustained muscle contractions (dystonia) and other uncontrolled |
GeneReviews |
hmdpc |
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movements. Two types of hypermanganesemia with dystonia, called |
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hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC) and |
GeneReviews |
slc39a14-def |
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hypermanganesemia with dystonia 2, have been identified. They are distinguished |
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by their genetic causes and certain specific features. |
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MeSH |
D008664 |
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html:p |
In HMDPC (also known as hypermanganesemia with dystonia 1), manganese |
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accumulates in the blood, brain, and liver. Signs and symptoms of the condition |
OMIM |
613280 |
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can begin in childhood (early-onset), typically between ages 2 and 15, or in |
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adulthood (adult-onset). Most children with the early-onset form of HMDPC |
OMIM |
617013 |
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experience dystonia in the arms and legs, which often leads to a characteristic |
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high-stepping walk described as a "cock-walk gait." Other neurological symptoms |
Orphanet |
309854 |
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in affected children include involuntary trembling (tremor), unusually slow |
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movement (bradykinesia), and slurred speech (dysarthria). The adult-onset form |
SNOMED CT |
702377007 |
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of HMDPC is characterized by a pattern of movement abnormalities known as |
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parkinsonism, which includes bradykinesia, tremor, muscle rigidity, and an |
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inability to hold the body upright and balanced (postural instability). |
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html:p |
Individuals with HMDPC have an increased number of red blood cells |
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(polycythemia) and low levels of iron stored in the body. Additional features of |
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HMDPC can include an enlarged liver (hepatomegaly) due to manganese |
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accumulation in the organ, scarring (fibrosis) in the liver, and irreversible |
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liver disease (cirrhosis). |
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html:p |
In hypermanganesemia with dystonia 2, manganese accumulates in the blood and |
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brain. Signs and symptoms of this type of the disorder usually begin between |
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ages 6 months and 3 years. Development of motor skills, such as sitting and |
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walking, may be delayed, or if already learned, they may be lost. Dystonia can |
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affect any part of the body and worsens over time. By late childhood, the |
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sustained muscle contractions often result in joints that are permanently bent |
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(contractures) and an inability to walk unassisted. Some affected individuals |
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have an abnormal curvature of the spine (scoliosis). People with |
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hypermanganesemia with dystonia 2 can have other neurological problems similar |
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to those in HMDPC, such as tremor, bradykinesia, parkinsonism, and dysarthria. |
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Unlike in HMDPC, individuals with hypermanganesemia with dystonia 2 do not |
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develop polycythemia or liver problems. |
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related-gene-list |
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Hypermethioninemia |
https://ghr.nlm.nih.gov/condition/hypermethioninemia |
Primary hypermethioninemia that is not caused by other disorders or excess |
html:p |
Hypermethioninemia is an excess of a particular protein building block (amino |
ad |
autosomal dominant |
AHCY |
https://ghr.nlm.nih.gov/gene/AHCY |
Deficiency of methionine adenosyltransferase |
db |
key |
2007-04 |
2017-12-29 |
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高甲硫胺酸血症 |
methionine intake appears to be rare; only a small number of cases have been |
acid), called methionine, in the blood. This condition can occur when methionine |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
glycine N-methyltransferase deficiency |
GTR |
C0268621 |
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Methionine adenosyltransferase deficiency , MET |
reported. The actual incidence is difficult to determine, however, since many |
is not broken down (metabolized) properly in the body. |
ar |
autosomal recessive |
GNMT |
https://ghr.nlm.nih.gov/gene/GNMT |
GNMT deficiency |
db |
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individuals with hypermethioninemia have no symptoms. |
html:p |
People with hypermethioninemia often do not show any symptoms. Some individuals |
related-gene |
gene-symbol |
ghr-page |
Hepatic methionine adenosyltransferase deficiency |
GTR |
C1847720 |
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with hypermethioninemia exhibit intellectual disability and other neurological |
MAT1A |
https://ghr.nlm.nih.gov/gene/MAT1A |
MAT deficiency |
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problems; delays in motor skills such as standing or walking; sluggishness; |
MET |
GTR |
C3151058 |
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muscle weakness; liver problems; unusual facial features; and their breath, |
methionine adenosyltransferase deficiency |
db |
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sweat, or urine may have a smell resembling boiled cabbage. |
methioninemia |
MeSH |
D000592 |
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html:p |
Hypermethioninemia can occur with other metabolic disorders, such as |
S-adenosylhomocysteine hydrolase deficiency |
db |
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homocystinuria, tyrosinemia and galactosemia, which also involve the faulty |
OMIM |
250850 |
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breakdown of particular molecules. It can also result from liver disease or |
db |
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excessive dietary intake of methionine from consuming large amounts of protein |
OMIM |
606664 |
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or a methionine-enriched infant formula. |
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db |
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OMIM |
613752 |
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db |
key |
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Orphanet |
168598 |
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db |
key |
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Orphanet |
289891 |
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Orphanet |
88618 |
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SNOMED CT |
124283007 |
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related-gene-list |
|
SNOMED CT |
43123004 |
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Hyperparathyroidism-jaw tumor syndrome |
https://ghr.nlm.nih.gov/condition/hyperparathyroidism-jaw-tumor-syndrome |
The exact prevalence of hyperparathyroidism-jaw tumor syndrome is unknown. |
html:p |
Hyperparathyroidism-jaw tumor syndrome is a condition characterized by |
ad |
autosomal dominant |
CDC73 |
https://ghr.nlm.nih.gov/gene/CDC73 |
familial cystic parathyroid adenomatosis |
db |
key |
2010-07 |
2017-12-29 |
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Approximately 200 cases have been reported in the medical literature. |
overactivity of the parathyroid glands (hyperparathyroidism). The four |
familial primary hyperparathyroidism with multiple ossifying jaw fibromas |
GTR |
C1704981 |
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parathyroid glands are located in the neck and secrete a hormone that regulates |
hereditary hyperparathyroidism-jaw tumor syndrome |
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the body's use of calcium. Hyperparathyroidism disrupts the normal balance of |
HPT-JT |
GeneReviews |
hrpt2 |
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calcium in the blood, which can lead to kidney stones, thinning of the bones |
hyperparathyroidism 2 |
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(osteoporosis), nausea, vomiting, high blood pressure (hypertension), weakness, |
MeSH |
D049950 |
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and fatigue. |
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html:p |
In people with hyperthyroidism-jaw tumor syndrome, hyperparathyroidism is caused |
OMIM |
145001 |
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by tumors that form in the parathyroid glands. Typically only one of the four |
db |
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parathyroid glands is affected, but in some people, tumors are found in more |
Orphanet |
99880 |
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than one gland. The tumors are usually noncancerous (benign), in which case |
db |
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they are called adenomas. Approximately 15 percent of people with |
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SNOMED CT |
702378002 |
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hyperparathyroidism-jaw tumor syndrome develop a cancerous tumor called |
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parathyroid carcinoma. People with hyperparathyroidism-jaw tumor syndrome may |
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also have a type of benign tumor called a fibroma in the jaw. Even though jaw |
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tumors are specified in the name of this condition, it is estimated that only 25 |
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to 50 percent of affected individuals have this symptom. |
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html:p |
Other tumors, both benign and cancerous, are often seen in |
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hyperparathyroidism-jaw tumor syndrome. For example, tumors of the uterus occur |
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in about 75 percent of women with this condition. The kidneys are affected in |
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about 20 percent of people with hyperparathyroidism-jaw tumor syndrome. Benign |
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kidney cysts are the most common kidney feature, but a rare tumor called Wilms |
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tumor and other types of kidney tumor have also been found. |
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related-gene-list |
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Hyperphosphatemic familial tumoral calcinosis |
https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis |
The prevalence of HFTC is unknown, but it is thought to be a rare |
html:p |
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition |
ar |
autosomal recessive |
FGF23 |
https://ghr.nlm.nih.gov/gene/FGF23 |
HFTC |
db |
key |
2012-08 |
2017-12-29 |
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condition. It occurs most often in Middle Eastern and African populations. |
characterized by an increase in the levels of phosphate in the blood |
related-gene |
gene-symbol |
ghr-page |
hyperphosphatemia hyperostosis |
GTR |
C1876187 |
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(hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) |
GALNT3 |
https://ghr.nlm.nih.gov/gene/GALNT3 |
hyperphosphatemia hyperostosis syndrome |
db |
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in the body's tissues. Calcinosis typically develops in early childhood to early |
related-gene |
gene-symbol |
ghr-page |
hyperphosphatemia tumoral calcinosis |
MeSH |
D054559 |
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adulthood, although in some people the deposits first appear in infancy or in |
KL |
https://ghr.nlm.nih.gov/gene/KL |
primary hyperphosphatemic tumoral calcinosis |
db |
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late adulthood. Calcinosis usually occurs in and just under skin tissue around |
OMIM |
211900 |
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the joints, most often the hips, shoulders, and elbows. Calcinosis may also |
db |
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develop in the soft tissue of the feet, legs, and hands. Rarely, calcinosis |
|
Orphanet |
53715 |
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occurs in blood vessels or in the brain and can cause serious health problems. |
db |
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The deposits develop over time and vary in size. Larger deposits form masses |
SNOMED CT |
20165001 |
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that are noticeable under the skin and can interfere with the function of joints |
db |
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and impair movement. These large deposits may appear tumor-like (tumoral), but |
SNOMED CT |
61778004 |
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they are not tumors or cancerous. The number and frequency of deposits varies |
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among affected individuals; some develop few deposits during their lifetime, |
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while others may develop many in a short period of time. |
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html:p |
Other features of HFTC include eye abnormalities such as calcium buildup in the |
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clear front covering of the eye (corneal calcification) or angioid streaks that |
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occur when tiny breaks form in the layer of tissue at the back of the eye called |
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Bruch's membrane. Inflammation of the long bones (diaphysis) or excessive bone |
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growth (hyperostosis) may occur. Some affected individuals have dental |
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abnormalities. In males, small crystals of cholesterol can accumulate |
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(microlithiasis) in the testicles, which usually causes no health problems. |
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html:p |
A similar condition called hyperphosphatemia-hyperostosis syndrome (HHS) results |
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in increased levels of phosphate in the blood, excessive bone growth, and bone |
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lesions. This condition used to be considered a separate disorder, but it is now |
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thought to be a mild variant of HFTC. |
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related-gene-list |
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Hyperprolinemia |
https://ghr.nlm.nih.gov/condition/hyperprolinemia |
It is difficult to determine the prevalence of hyperprolinemia type I |
html:p |
Hyperprolinemia is an excess of a particular protein building block (amino |
ar |
autosomal recessive |
ALDH4A1 |
https://ghr.nlm.nih.gov/gene/ALDH4A1 |
proline oxidase deficiency |
db |
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2007-06 |
2017-12-29 |
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高脯胺酸血症 |
because most people with the condition do not have any symptoms. Hyperprolinemia |
acid), called proline, in the blood. This condition generally occurs when |
related-gene |
gene-symbol |
ghr-page |
prolinemia |
GTR |
C0268529 |
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type II is a rare condition; its prevalence is also unknown. |
proline is not broken down properly by the body. There are two inherited forms |
PRODH |
https://ghr.nlm.nih.gov/gene/PRODH |
pyrroline-5-carboxylate dehydrogenase deficiency |
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of hyperprolinemia, called type I and type II. |
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pyrroline carboxylate dehydrogenase deficiency |
GTR |
C2931835 |
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html:p |
People with hyperprolinemia type I often do not show any symptoms, although they |
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have proline levels in their blood between 3 and 10 times the normal level. |
MeSH |
D000592 |
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Some individuals with hyperprolinemia type I exhibit seizures, intellectual |
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disability, or other neurological or psychiatric problems. |
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OMIM |
239500 |
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html:p |
Hyperprolinemia type II results in proline levels in the blood between 10 and 15 |
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times higher than normal, and high levels of a related compound called |
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OMIM |
239510 |
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pyrroline-5-carboxylate. This form of the disorder has signs and symptoms that |
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vary in severity, and is more likely than type I to involve seizures or |
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Orphanet |
419 |
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intellectual disability. |
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html:p |
Hyperprolinemia can also occur with other conditions, such as malnutrition or |
Orphanet |
79101 |
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liver disease. In particular, individuals with conditions that cause elevated |
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levels of lactic acid in the blood (lactic acidemia) may have hyperprolinemia as |
SNOMED CT |
59655002 |
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well, because lactic acid inhibits the breakdown of proline. |
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related-gene-list |
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Hypochondrogenesis |
https://ghr.nlm.nih.gov/condition/hypochondrogenesis |
Hypochondrogenesis and achondrogenesis, type 2 (a similar skeletal |
html:p |
Hypochondrogenesis is a rare, severe disorder of bone growth. This condition is |
ad |
autosomal dominant |
COL2A1 |
https://ghr.nlm.nih.gov/gene/COL2A1 |
achondrogenesis type II/hypochondrogenesis |
db |
key |
2008-07 |
2017-12-29 |
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软骨发育不良 |
disorder) together affect 1 in 40,000 to 60,000 newborns. |
characterized by a small body, short limbs, and abnormal bone formation |
GTR |
C0220685 |
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(ossification) in the spine and pelvis. |
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html:p |
Affected infants have short arms and legs, a small chest with short ribs, and |
GTR |
C0542428 |
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underdeveloped lungs. Bones in the skull develop normally, but the bones of the |
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spine (vertebrae) and pelvis do not harden (ossify) properly. The face |
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ICD-10-CM |
Q77.0 |
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appears flat and oval-shaped, with widely spaced eyes, a small chin, and, in |
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some cases, an opening in the roof of the mouth called a cleft palate. |
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MeSH |
D003095 |
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Individuals with hypochondrogenesis have an enlarged abdomen and may have a |
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condition called hydrops fetalis in which excess fluid builds up in the body |
MeSH |
D010009 |
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before birth. |
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html:p |
As a result of these serious health problems, some affected fetuses do not |
OMIM |
200610 |
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survive to term. Infants born with hypochondrogenesis usually die at birth or |
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shortly thereafter from respiratory failure. Babies who live past the newborn |
Orphanet |
932 |
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period are usually reclassified as having spondyloepiphyseal dysplasia |
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congenita, a related but milder disorder that similarly affects bone |
|
SNOMED CT |
205483007 |
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development. |
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related-gene-list |
|
SNOMED CT |
254061001 |
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Hypochondroplasia |
https://ghr.nlm.nih.gov/condition/hypochondroplasia |
The incidence of hypochondroplasia is unknown. Researchers believe that it |
html:p |
Hypochondroplasia is a form of short-limbed dwarfism. This condition affects |
ad |
autosomal dominant |
FGFR3 |
https://ghr.nlm.nih.gov/gene/FGFR3 |
HCH |
db |
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2012-10 |
2017-12-29 |
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季肋發育不全 |
may be about as common as achondroplasia, which occurs in 1 in 15,000 to 40,000 |
the conversion of cartilage into bone (a process called ossification), |
Hypochondrodysplasia |
GTR |
C0410529 |
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newborns. More than 200 people worldwide have been diagnosed with |
particularly in the long bones of the arms and legs. Hypochondroplasia is |
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hypochondroplasia. |
similar to another skeletal disorder called achondroplasia, but the features |
GeneReviews |
hypochondroplasia |
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tend to be milder. |
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html:p |
All people with hypochondroplasia have short stature. The adult height for men |
ICD-10-CM |
Q77.4 |
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with this condition ranges from 138 centimeters to 165 centimeters (4 feet, 6 |
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inches to 5 feet, 5 inches). The height range for adult women is 128 |
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MeSH |
D004392 |
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centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches). |
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html:p |
People with hypochondroplasia have short arms and legs and broad, short hands |
OMIM |
146000 |
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and feet. Other characteristic features include a large head, limited range of |
db |
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motion at the elbows, a sway of the lower back (lordosis), and bowed legs. |
Orphanet |
429 |
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These signs are generally less pronounced than those seen with achondroplasia |
db |
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and may not be noticeable until early or middle childhood. Some studies have |
SNOMED CT |
205468002 |
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reported that a small percentage of people with hypochondroplasia have mild to |
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moderate intellectual disability or learning problems, but other studies have |
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produced conflicting results. |
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related-gene-list |
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Hypochromic microcytic anemia with iron overload |
https://ghr.nlm.nih.gov/condition/hypochromic-microcytic-anemia-with-iron-overlo |
Hypochromic microcytic anemia with iron overload is likely a rare disorder; |
html:p |
Hypochromic microcytic anemia with iron overload is a condition that impairs the |
ar |
autosomal recessive |
SLC11A2 |
https://ghr.nlm.nih.gov/gene/SLC11A2 |
microcytic anemia and hepatic iron overload |
db |
key |
2014-11 |
2017-12-29 |
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ad |
at least five affected families have been reported in the scientific |
normal transport of iron in cells. Iron is an essential component of |
microcytic anemia with liver iron overload |
GTR |
C2673913 |
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literature. |
|
hemoglobin, which is the substance that red blood cells use to carry oxygen to |
db |
key |
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cells and tissues throughout the body. In this condition, red blood cells cannot |
MeSH |
D000747 |
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access iron in the blood, so there is a decrease of red blood cell production |
db |
key |
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(anemia) that is apparent at birth. The red blood cells that are produced are |
OMIM |
206100 |
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abnormally small (microcytic) and pale (hypochromic). Hypochromic microcytic |
db |
key |
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anemia with iron overload can lead to pale skin (pallor), tiredness (fatigue), |
Orphanet |
83642 |
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and slow growth. |
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db |
key |
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html:p |
In hypochromic microcytic anemia with iron overload, the iron that is not used |
SNOMED CT |
711161006 |
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by red blood cells accumulates in the liver, which can impair its function over |
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time. The liver problems typically become apparent in adolescence or early |
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adulthood. |
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related-gene-list |
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Hypohidrotic ectodermal dysplasia |
https://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia |
Hypohidrotic ectodermal dysplasia is the most common form of ectodermal |
html:p |
Hypohidrotic ectodermal dysplasia is one of about 150 types of ectodermal |
ad |
autosomal dominant |
EDA |
https://ghr.nlm.nih.gov/gene/EDA |
Anhidrotic Ectodermal Dysplasia |
db |
key |
2006-08 |
2017-12-29 |
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dysplasia in humans. It is estimated to affect at least 1 in 17,000 people |
dysplasia in humans. Before birth, these disorders result in the abnormal |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Christ-Siemens-Touraine Syndrome |
GTR |
C0162359 |
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worldwide. |
development of structures including the skin, hair, nails, teeth, and sweat |
ar |
autosomal recessive |
EDAR |
https://ghr.nlm.nih.gov/gene/EDAR |
CST syndrome |
db |
key |
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glands. |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
HED |
GTR |
C0406702 |
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html:p |
Most people with hypohidrotic ectodermal dysplasia have a reduced ability to |
xr |
X-linked recessive |
EDARADD |
https://ghr.nlm.nih.gov/gene/EDARADD |
db |
key |
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sweat (hypohidrosis) because they have fewer sweat glands than normal or their |
GTR |
C1720965 |
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sweat glands do not function properly. Sweating is a major way that the body |
db |
key |
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controls its temperature; as sweat evaporates from the skin, it cools the body. |
GeneReviews |
x-hed |
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An inability to sweat can lead to a dangerously high body temperature |
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db |
key |
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(hyperthermia), particularly in hot weather. In some cases, hyperthermia can |
ICD-10-CM |
Q82.4 |
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cause life-threatening medical problems. |
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db |
key |
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html:p |
Affected individuals tend to have sparse scalp and body hair (hypotrichosis). |
MeSH |
D053358 |
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The hair is often light-colored, brittle, and slow-growing. This condition is |
db |
key |
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also characterized by absent teeth (hypodontia) or teeth that are malformed. |
MeSH |
D053359 |
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The teeth that are present are frequently small and pointed. |
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db |
key |
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html:p |
Hypohidrotic ectodermal dysplasia is associated with distinctive facial features |
MeSH |
D053360 |
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including a prominent forehead, thick lips, and a flattened bridge of the nose. |
db |
key |
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Additional features of this condition include thin, wrinkled, and dark-colored |
OMIM |
129490 |
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skin around the eyes; chronic skin problems such as eczema; and a bad-smelling |
db |
key |
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discharge from the nose (ozena). |
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OMIM |
224900 |
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db |
key |
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OMIM |
305100 |
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db |
key |
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Orphanet |
181 |
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db |
key |
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Orphanet |
248 |
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db |
key |
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Orphanet |
1810 |
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db |
key |
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SNOMED CT |
239007005 |
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db |
key |
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SNOMED CT |
27025001 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
7731005 |
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Hypokalemic periodic paralysis, HOKPP |
https://ghr.nlm.nih.gov/condition/hypokalemic-periodic-paralysis |
Although its exact prevalence is unknown, hypokalemic periodic paralysis is |
html:p |
Hypokalemic periodic paralysis is a condition that causes episodes of extreme |
ad |
autosomal dominant |
CACNA1S |
https://ghr.nlm.nih.gov/gene/CACNA1S |
Familial Hypokalemic Periodic Paralysis |
db |
key |
2017-10 |
2017-12-29 |
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低血鉀週期性麻痹症 |
estimated to affect 1 in 100,000 people. Men tend to experience symptoms of |
muscle weakness typically beginning in childhood or adolescence. Most often, |
related-gene |
gene-symbol |
ghr-page |
HOKPP |
GTR |
C0238358 |
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this condition more often than women. |
these episodes involve a temporary inability to move muscles in the arms and |
SCN4A |
https://ghr.nlm.nih.gov/gene/SCN4A |
HypoKPP |
db |
key |
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legs. Attacks cause severe weakness or paralysis that usually lasts from hours |
HypoPP |
GTR |
C2750061 |
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to days. Some people may have episodes almost every day, while others |
Primary Hypokalemic Periodic Paralysis |
db |
key |
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experience them weekly, monthly, or only rarely. Attacks can occur without |
Westphall disease |
GTR |
C3714580 |
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warning or can be triggered by factors such as rest after exercise, a viral |
|
db |
key |
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illness, or certain medications. Often, a large, carbohydrate-rich meal or |
|
GeneReviews |
hpp |
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vigorous exercise in the evening can trigger an attack upon waking the following |
db |
key |
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morning. Although affected individuals usually regain their muscle strength |
ICD-10-CM |
G72.3 |
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between attacks, repeated episodes can lead to persistent muscle weakness later |
db |
key |
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in life. |
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MeSH |
D020514 |
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html:p |
People with hypokalemic periodic paralysis have reduced levels of potassium in |
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their blood (hypokalemia) during episodes of muscle weakness. Researchers are |
OMIM |
170400 |
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investigating how low potassium levels may be related to the muscle |
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abnormalities in this condition. |
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Orphanet |
681 |
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related-gene-list |
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SNOMED CT |
82732003 |
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Hypomagnesemia with secondary hypocalcemia |
https://ghr.nlm.nih.gov/condition/hypomagnesemia-with-secondary-hypocalcemia |
Hypomagnesemia with secondary hypocalcemia is thought to be a rare |
html:p |
Hypomagnesemia with secondary hypocalcemia is an inherited condition caused by |
ar |
autosomal recessive |
TRPM6 |
https://ghr.nlm.nih.gov/gene/TRPM6 |
familial primary hypomagnesemia with hypocalcuria |
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key |
2015-01 |
2017-12-29 |
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condition, but its prevalence is unknown. |
the body's inability to absorb and retain magnesium that is taken in through the |
HOMG |
GTR |
C1865974 |
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diet. As a result, magnesium levels in the blood are severely low |
HSH |
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(hypomagnesemia). |
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hypomagnesemic tetany |
MeSH |
D006996 |
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html:p |
Hypomagnesemia impairs the function of the parathyroid glands, which are small |
intestinal hypomagnesemia 1 |
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hormone-producing glands located in the neck. Normally, the parathyroid glands |
intestinal hypomagnesemia with secondary hypocalcemia |
OMIM |
602014 |
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release a hormone that increases blood calcium levels when they are low. |
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Magnesium is required for the production and release of parathyroid hormone, so |
Orphanet |
30924 |
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when magnesium is too low, insufficient parathyroid hormone is produced and |
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blood calcium levels are also reduced (hypocalcemia). The hypocalcemia is |
SNOMED CT |
711151004 |
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described as "secondary" because it occurs as a consequence of hypomagnesemia. |
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html:p |
Shortages of magnesium and calcium can cause neurological problems that begin in |
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infancy, including painful muscle spasms (tetany) and seizures. If left |
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untreated, hypomagnesemia with secondary hypocalcemia can lead to developmental |
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delay, intellectual disability, a failure to gain weight and grow at the |
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expected rate (failure to thrive), and heart failure. |
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related-gene-list |
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Hypomyelination and congenital cataract |
https://ghr.nlm.nih.gov/condition/hypomyelination-and-congenital-cataract |
The prevalence of hypomyelination and congenital cataract is unknown. |
html:p |
Hypomyelination and congenital cataract is an inherited condition that affects |
ar |
autosomal recessive |
FAM126A |
https://ghr.nlm.nih.gov/gene/FAM126A |
HCC |
db |
key |
2009-07 |
2017-12-29 |
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the nervous system and the eyes. This disease is one of a group of genetic |
GTR |
C1864663 |
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disorders called leukoencephalopathies. Leukoencephalopathies involve |
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abnormalities of the brain's white matter. White matter consists of nerve fibers |
GeneReviews |
hypo-mcc |
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covered by a fatty substance called myelin. Myelin insulates nerve fibers and |
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promotes the rapid transmission of nerve impulses. Hypomyelination and |
MeSH |
D020279 |
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congenital cataract is caused by a reduced ability to form myelin |
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(hypomyelination). Additionally, people with this disorder are typically born |
OMIM |
610532 |
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with a clouding of the lens (cataract) in both eyes. |
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html:p |
People with this condition usually have normal development throughout the first |
Orphanet |
85163 |
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year of life. Development slows around the age of 1. Most affected children |
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learn to walk between the ages of 1 and 2, although they usually need some type |
SNOMED CT |
702379005 |
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of support. Over time they experience muscle weakness and wasting (atrophy) in |
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their legs, and many affected people eventually require wheelchair assistance. |
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Weakness in the muscles of the trunk and a progressive abnormal curvature of the |
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spine (scoliosis) further impair walking in some individuals. Most people with |
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hypomyelination and congenital cataract have reduced sensation in their arms |
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and legs (peripheral neuropathy). In addition, affected individuals typically |
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have speech difficulties (dysarthria) and mild to moderate intellectual |
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disability. |
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related-gene-list |
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Hypophosphatasia |
https://ghr.nlm.nih.gov/condition/hypophosphatasia |
Severe forms of hypophosphatasia affect an estimated 1 in 100,000 newborns. |
html:p |
Hypophosphatasia is an inherited disorder that affects the development of bones |
ad |
autosomal dominant |
ALPL |
https://ghr.nlm.nih.gov/gene/ALPL |
Deficiency of alkaline phosphatase |
db |
key |
2007-09 |
2017-12-29 |
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低磷酸酯酶症 |
Milder cases, such as those that appear in childhood or adulthood, probably |
and teeth. This condition disrupts a process called mineralization, in which |
code |
memo |
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Phosphoethanolaminuria |
GTR |
C0020630 |
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occur more frequently.Hypophosphatasia has been reported worldwide in people of |
minerals such as calcium and phosphorus are deposited in developing bones and |
ar |
autosomal recessive |
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various ethnic backgrounds. This condition appears to be most common in white |
teeth. Mineralization is critical for the formation of bones that are strong |
|
GTR |
C0220743 |
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populations. It is particularly frequent in a Mennonite population in Manitoba, |
and rigid and teeth that can withstand chewing and grinding. |
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Canada, where about 1 in 2,500 infants is born with severe features of the |
html:p |
The signs and symptoms of hypophosphatasia vary widely and can appear anywhere |
GTR |
C0268412 |
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condition. |
from before birth to adulthood. The most severe forms of the disorder tend to |
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occur before birth and in early infancy. Hypophosphatasia weakens and softens |
GTR |
C0268413 |
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the bones, causing skeletal abnormalities similar to another childhood bone |
db |
key |
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disorder called rickets. Affected infants are born with short limbs, an |
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GeneReviews |
hops |
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abnormally shaped chest, and soft skull bones. Additional complications in |
db |
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infancy include poor feeding and a failure to gain weight, respiratory problems, |
MeSH |
D007014 |
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and high levels of calcium in the blood (hypercalcemia), which can lead to |
db |
key |
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recurrent vomiting and kidney problems. These complications are |
|
OMIM |
146300 |
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life-threatening in some cases. |
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html:p |
The forms of hypophosphatasia that appear in childhood or adulthood are |
OMIM |
241500 |
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typically less severe than those that appear in infancy. Early loss of primary |
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(baby) teeth is one of the first signs of the condition in children. Affected |
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OMIM |
241510 |
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children may have short stature with bowed legs or knock knees, enlarged wrist |
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and ankle joints, and an abnormal skull shape. Adult forms of hypophosphatasia |
Orphanet |
436 |
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are characterized by a softening of the bones known as osteomalacia. In adults, |
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recurrent fractures in the foot and thigh bones can lead to chronic pain. |
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SNOMED CT |
190859005 |
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Affected adults may lose their secondary (adult) teeth prematurely and are at |
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increased risk for joint pain and inflammation. |
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SNOMED CT |
20756002 |
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html:p |
The mildest form of this condition, called odontohypophosphatasia, only affects |
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the teeth. People with this disorder typically experience abnormal tooth |
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SNOMED CT |
30174008 |
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development and premature tooth loss, but do not have the skeletal abnormalities |
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seen in other forms of hypophosphatasia. |
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SNOMED CT |
360792001 |
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Hypophosphatemic Rickets |
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低磷酸鹽佝僂症 |
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db |
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Hypothalamic dysfunction Syndrome |
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下視丘功能障礙症候群 |
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related-gene-list |
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SNOMED CT |
55236002 |
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Hystrix-like ichthyosis with deafness |
https://ghr.nlm.nih.gov/condition/hystrix-like-ichthyosis-with-deafness |
HID is a rare disorder. Its prevalence is unknown. |
html:p |
Hystrix-like ichthyosis with deafness (HID) is a disorder characterized by dry, |
ad |
autosomal dominant |
GJB2 |
https://ghr.nlm.nih.gov/gene/GJB2 |
HID syndrome |
db |
key |
2012-11 |
2017-12-29 |
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scaly skin (ichthyosis) and hearing loss that is usually profound. Hystrix-like |
ichthyosis, hystrix-like, with deafness |
GTR |
C1865234 |
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means resembling a porcupine; in this type of ichthyosis, the scales may be |
db |
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thick and spiky, giving the appearance of porcupine quills. |
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MeSH |
D007057 |
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html:p |
Newborns with HID typically develop reddened skin. The skin abnormalities worsen |
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over time, and the ichthyosis eventually covers most of the body, although the |
OMIM |
602540 |
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palms of the hands and soles of the feet are usually only mildly affected. |
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Breaks in the skin may occur and in severe cases can lead to life-threatening |
Orphanet |
477 |
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infections. Affected individuals have an increased risk of developing a type of |
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skin cancer called squamous cell carcinoma, which can also affect mucous |
SNOMED CT |
254173004 |
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membranes such as the inner lining of the mouth. People with HID may also have |
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patchy hair loss caused by scarring on particular areas of skin. |
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related-gene-list |
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Ichthyosis with confetti |
https://ghr.nlm.nih.gov/condition/ichthyosis-with-confetti |
Ichthyosis with confetti is a rare disorder. Fewer than 20 affected |
html:p |
Ichthyosis with confetti is a disorder of the skin. Individuals with this |
ad |
autosomal dominant |
KRT10 |
https://ghr.nlm.nih.gov/gene/KRT10 |
congenital reticular ichthyosiform erythroderma |
db |
key |
2014-02 |
2017-12-29 |
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魚鱗病與五彩紙屑 |
individuals have been described in the medical literature. |
condition are born with red, scaly skin all over the body, which can be itchy in |
CRIE |
GTR |
C1836681 |
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some people. In childhood or adolescence, hundreds to thousands of small |
ichthyosis variegata |
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patches of normal skin appear, usually on the torso. The numerous pale spots |
IWC |
MeSH |
D016113 |
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surrounded by red skin look like confetti, giving the condition its name. The |
db |
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patches of normal skin increase in number and size over time. |
|
OMIM |
609165 |
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html:p |
In addition to red, scaly skin, people with ichthyosis with confetti typically |
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have abnormally thick skin on the palms of the hands and soles of the feet |
Orphanet |
281190 |
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(palmoplantar keratoderma). Many affected individuals have excess hair |
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(hirsutism) on some parts of the body, particularly on the arms and legs. |
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SNOMED CT |
703504006 |
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Because of their skin abnormalities, people with ichthyosis with confetti are at |
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increased risk of developing skin infections. |
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related-gene-list |
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Idiopathic infantile hypercalcemia |
https://ghr.nlm.nih.gov/condition/idiopathic-infantile-hypercalcemia |
Infantile hypercalcemia 1 and 2 are thought to be rare conditions, although |
html:p |
Idiopathic infantile hypercalcemia is a condition characterized by high levels |
ar |
autosomal recessive |
CYP24A1 |
https://ghr.nlm.nih.gov/gene/CYP24A1 |
autosomal recessive infantile hypercalcemia |
db |
key |
2017-12 |
2017-12-29 |
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特發性嬰兒高鈣血症 |
their prevalence is unknown. |
of calcium in the blood (hypercalcemia). Two types of idiopathic infantile |
related-gene |
gene-symbol |
ghr-page |
IIH |
GTR |
CN203398 |
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hypercalcemia have been identified and are distinguished by their genetic |
SLC34A1 |
https://ghr.nlm.nih.gov/gene/SLC34A1 |
vitamin D hypersensitivity |
db |
key |
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causes: infantile hypercalcemia 1 and infantile hypercalcemia 2. In infants with |
MeSH |
D006934 |
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either type, hypercalcemia can cause vomiting, increased urine production |
db |
key |
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(polyuria), dehydration, constipation, poor feeding, weight loss, and an |
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OMIM |
143880 |
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inability to grow and gain weight as expected (failure to thrive). As they age, |
db |
key |
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affected babies usually have delayed development of mental and movement |
OMIM |
616963 |
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abilities (psychomotor delay). Individuals with infantile hypercalcemia 1 or 2 |
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may also have high levels of calcium in their urine (hypercalciuria) and |
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deposits of calcium in their kidneys (nephrocalcinosis). |
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html:p |
With treatment, the outward symptoms of hypercalcemia, such as vomiting, |
SNOMED CT |
276645004 |
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dehydration, failure to thrive, and psychomotor delay, usually improve in |
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childhood. However, affected children still tend to have higher-than-normal |
SNOMED CT |
34225008 |
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amounts of calcium in their blood and urine and calcium deposits in their |
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kidneys. By adulthood, long-term hypercalcemia and hypercalciuria can lead to |
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the formation of kidney stones (nephrolithiasis) and may damage the kidneys and |
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impair their function. Affected adults may also develop calcium deposits in the |
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joints or in the clear outer covering of the eye (the cornea), and some have low |
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bone mineral density (osteoporosis). |
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html:p |
In rare cases, affected individuals do not have symptoms of hypercalcemia in |
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infancy, and the condition begins in later childhood or adulthood. These |
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individuals usually develop hypercalciuria, nephrocalcinosis, and |
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nephrolithiasis, although the features may not cause any obvious health |
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problems. |
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html:p |
Although most signs and symptoms are similar between the two known types of |
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idiopathic infantile hypercalcemia, individuals with infantile hypercalcemia 2 |
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have low levels of a mineral called phosphate in the blood (hypophosphatemia), |
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while phosphate levels are typically normal in people with infantile |
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hypercalcemia 1. |
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related-gene-list |
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Idiopathic inflammatory myopathy |
https://ghr.nlm.nih.gov/condition/idiopathic-inflammatory-myopathy |
The incidence of idiopathic inflammatory myopathy is approximately 2 to 8 |
html:p |
Idiopathic inflammatory myopathy is a group of disorders characterized by |
u |
pattern unknown |
HLA-DQA1 |
https://ghr.nlm.nih.gov/gene/HLA-DQA1 |
idiopathic inflammatory myopathies |
db |
key |
2011-02 |
2017-12-29 |
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突發性炎性肌病 |
cases per million people each year.For unknown reasons, polymyositis and |
inflammation of the muscles used for movement (skeletal muscles). Idiopathic |
related-gene |
gene-symbol |
ghr-page |
idiopathic inflammatory myositis |
GTR |
C0027121 |
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dermatomyositis are about twice as common in women as in men, while sporadic |
inflammatory myopathy usually appears in adults between ages 40 and 60 or in |
HLA-DRB1 |
https://ghr.nlm.nih.gov/gene/HLA-DRB1 |
inflammatory myopathy, idiopathic |
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inclusion body myositis is more common in men. |
children between ages 5 and 15, though it can occur at any age. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0238190 |
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html:p |
The primary symptom of idiopathic inflammatory myopathy is muscle weakness, |
IL1A |
https://ghr.nlm.nih.gov/gene/IL1A |
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key |
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which develops gradually over a period of weeks to months or even years. Other |
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D009220 |
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symptoms include joint pain and general tiredness (fatigue). |
PTPN22 |
https://ghr.nlm.nih.gov/gene/PTPN22 |
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key |
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html:p |
There are several forms of idiopathic inflammatory myopathy, including |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
147421 |
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polymyositis, dermatomyositis, and sporadic inclusion body myositis. |
TNF |
https://ghr.nlm.nih.gov/gene/TNF |
db |
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html:p |
Polymyositis and dermatomyositis involve weakness of the muscles closest to the |
OMIM |
160750 |
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center of the body (proximal muscles), such as the muscles of the hips and |
db |
key |
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thighs, upper arms, and neck. People with these forms of idiopathic inflammatory |
Orphanet |
221 |
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myopathy may find it difficult to climb stairs, get up from a seated position, |
db |
key |
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or lift items above their head. In some cases, muscle weakness may make |
Orphanet |
611 |
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swallowing or breathing difficult. |
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db |
key |
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html:p |
Polymyositis and dermatomyositis have similar symptoms, but dermatomyositis is |
Orphanet |
732 |
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distinguished by a reddish or purplish rash on the eyelids, elbows, knees, or |
db |
key |
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knuckles. Sometimes, abnormal calcium deposits form hard, painful bumps under |
SNOMED CT |
702380008 |
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the skin (calcinosis). |
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html:p |
In sporadic inclusion body myositis, the muscles most affected are those of the |
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wrists and fingers and the front of the thigh. Affected individuals may |
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frequently stumble while walking and find it difficult to grasp items. As in |
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dermatomyositis and polymyositis, swallowing can be difficult. |
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related-gene-list |
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Idiopathic pulmonary fibrosis |
https://ghr.nlm.nih.gov/condition/idiopathic-pulmonary-fibrosis |
Idiopathic pulmonary fibrosis has an estimated prevalence of 13 to 20 per |
html:p |
Idiopathic pulmonary fibrosis is a chronic, progressive lung disease. This |
ad |
autosomal dominant |
ELMOD2 |
https://ghr.nlm.nih.gov/gene/ELMOD2 |
cryptogenic fibrosing alveolitis |
db |
key |
2015-04 |
2017-12-29 |
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突發性肺纖維化 |
100,000 people worldwide. About 100,000 people are affected in the United |
condition causes scar tissue (fibrosis) to build up in the lungs, which makes |
related-gene |
gene-symbol |
ghr-page |
idiopathic fibrosing alveolitis, chronic form |
GTR |
C1800706 |
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States, and 30,000 to 40,000 new cases are diagnosed each year.Familial |
the lungs unable to transport oxygen into the bloodstream effectively. The |
MICA |
https://ghr.nlm.nih.gov/gene/MICA |
IPF |
db |
key |
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pulmonary fibrosis is less common than the sporadic form of the disease. Only a |
disease usually affects people between the ages of 50 and 70. |
related-gene |
gene-symbol |
ghr-page |
usual interstitial pneumonia |
GeneReviews |
pf |
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small percentage of cases of idiopathic pulmonary fibrosis appear to run in |
html:p |
The most common signs and symptoms of idiopathic pulmonary fibrosis are |
MUC5B |
https://ghr.nlm.nih.gov/gene/MUC5B |
db |
key |
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families. |
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shortness of breath and a persistent dry, hacking cough. Many affected |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
J84.10 |
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individuals also experience a loss of appetite and gradual weight loss. Some |
SFTPA1 |
https://ghr.nlm.nih.gov/gene/SFTPA1 |
db |
key |
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people with idiopathic pulmonary fibrosis develop widened and rounded tips of |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
J84.11 |
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the fingers and toes (clubbing) resulting from a shortage of oxygen. These |
SFTPA2 |
https://ghr.nlm.nih.gov/gene/SFTPA2 |
db |
key |
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features are relatively nonspecific; not everyone with these health problems has |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
J84.111 |
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idiopathic pulmonary fibrosis. Other respiratory diseases, some of which are |
SFTPC |
https://ghr.nlm.nih.gov/gene/SFTPC |
db |
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less serious, can cause similar signs and symptoms. |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
J84.112 |
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html:p |
In people with idiopathic pulmonary fibrosis, scarring of the lungs increases |
TERC |
https://ghr.nlm.nih.gov/gene/TERC |
db |
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over time until the lungs can no longer provide enough oxygen to the body's |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
J84.113 |
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organs and tissues. Some people with idiopathic pulmonary fibrosis develop other |
TERT |
https://ghr.nlm.nih.gov/gene/TERT |
db |
key |
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serious lung conditions, including lung cancer, blood clots in the lungs |
|
ICD-10-CM |
J84.114 |
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(pulmonary emboli), pneumonia, or high blood pressure in the blood vessels that |
db |
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supply the lungs (pulmonary hypertension). Most affected individuals survive 3 |
ICD-10-CM |
J84.115 |
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to 5 years after their diagnosis. However, the course of the disease is highly |
db |
key |
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variable; some affected people become seriously ill within a few months, while |
ICD-10-CM |
J84.116 |
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others may live with the disease for a decade or longer. |
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html:p |
In most cases, idiopathic pulmonary fibrosis occurs in only one person in a |
ICD-10-CM |
J84.117 |
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family. These cases are described as sporadic. However, a small percentage of |
db |
key |
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people with this disease have at least one other affected family member. When |
MeSH |
D054990 |
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idiopathic pulmonary fibrosis occurs in multiple members of the same family, it |
db |
key |
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is known as familial pulmonary fibrosis. |
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OMIM |
178500 |
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db |
key |
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Orphanet |
2032 |
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db |
key |
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SNOMED CT |
426437004 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
700250006 |
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Imerslund-Gräsbeck syndrome |
https://ghr.nlm.nih.gov/condition/imerslund-grasbeck-syndrome |
Imerslund-Gräsbeck syndrome is a rare condition that was first described in |
html:p |
Imerslund-Gräsbeck syndrome is a condition caused by low levels of vitamin B12 |
ar |
autosomal recessive |
AMN |
https://ghr.nlm.nih.gov/gene/AMN |
defect of enterocyte intrinsic factor receptor |
db |
key |
2014-04 |
2017-12-29 |
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(Blood) |
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Finland and Norway; in these regions, the condition is estimated to affect 1 in |
(also known as cobalamin). The primary feature of this condition is a blood |
related-gene |
gene-symbol |
ghr-page |
enterocyte cobalamin malabsorption |
GTR |
C4016819 |
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200,000 people. The condition has also been reported in other countries |
disorder called megaloblastic anemia. In this form of anemia, which is a |
CUBN |
https://ghr.nlm.nih.gov/gene/CUBN |
Imerslund-Grasbeck syndrome |
db |
key |
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worldwide; its prevalence in these countries is unknown. |
disorder characterized by the shortage of red blood cells, the red cells that |
juvenile pernicious anemia with proteinuria due to selective intestinal |
GTR |
C4016948 |
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are present are abnormally large. About half of people with Imerslund-Gräsbeck |
malabsorption of vitamin B12 |
db |
key |
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syndrome also have high levels of protein in their urine (proteinuria). Although |
megaloblastic anemia 1 |
MeSH |
D000749 |
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proteinuria can be an indication of kidney problems, people with |
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Imerslund-Gräsbeck syndrome appear to have normal kidney function. |
|
OMIM |
261100 |
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html:p |
Imerslund-Gräsbeck syndrome typically begins in infancy or early childhood. The |
db |
key |
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blood abnormality leads to many of the signs and symptoms of the condition, |
Orphanet |
35858 |
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including an inability to grow and gain weight at the expected rate (failure to |
db |
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thrive), pale skin (pallor), excessive tiredness (fatigue), and recurring |
|
SNOMED CT |
26333003 |
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gastrointestinal or respiratory infections. Other features of Imerslund-Gräsbeck |
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syndrome include mild neurological problems, such as weak muscle tone |
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(hypotonia), numbness or tingling in the hands or feet, movement problems, |
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delayed development, or confusion. Rarely, affected individuals have |
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abnormalities of organs or tissues that make up the urinary tract, such as the |
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bladder or the tubes that carry fluid from the kidneys to the bladder (the |
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ureters). |
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related-gene-list |
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Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome |
https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-entero |
IPEX syndrome is a rare disorder that affects an estimated 1 in 1.6 million |
html:p |
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome |
xr |
X-linked recessive |
FOXP3 |
https://ghr.nlm.nih.gov/gene/FOXP3 |
autoimmunity-immunodeficiency syndrome, X-linked |
db |
key |
2017-05 |
2017-12-29 |
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IPEX syndrome |
pathy-x-linked-syndrome |
people. |
|
primarily affects males and is caused by problems with the immune system. The |
diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea |
GTR |
C0342288 |
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IPEX 综合症 |
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immune system normally protects the body from foreign invaders, such as bacteria |
diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked |
db |
key |
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and viruses, by recognizing and attacking these invaders and clearing them from |
enteropathy, autoimmune, with hemolytic anemia and polyendocrinopathy |
GeneReviews |
ipex |
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the body. However, the immune system can malfunction and attack the body's own |
IDDM-secretory diarrhea syndrome |
db |
key |
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tissues and organs instead, which is known as autoimmunity. IPEX syndrome is |
immunodeficiency, polyendocrinopathy, and enteropathy, X-linked |
MeSH |
D040181 |
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characterized by the development of multiple autoimmune disorders in affected |
insulin-dependent diabetes mellitus secretory diarrhea syndrome |
db |
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individuals. Although IPEX syndrome can affect many different areas of the body, |
IPEX syndrome |
OMIM |
304790 |
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autoimmune disorders involving the intestines, skin, and hormone-producing |
polyendocrinopathy, immune dysfunction, and diarrhea, X-linked |
db |
key |
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(endocrine) glands occur most often. IPEX syndrome can be life-threatening in |
X-linked autoimmunity-allergic dysregulation syndrome |
Orphanet |
37042 |
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early childhood. |
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XLAAD |
db |
key |
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html:p |
Almost all individuals with IPEX syndrome develop a disorder of the intestines |
SNOMED CT |
237618001 |
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called autoimmune enteropathy. Autoimmune enteropathy occurs when certain cells |
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in the intestines are destroyed by a person's immune system. It causes severe |
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diarrhea, which is usually the first symptom of IPEX syndrome. Autoimmune |
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enteropathy typically begins in the first few months of life. It can cause |
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failure to gain weight and grow at the expected rate (failure to thrive) and |
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general wasting and weight loss (cachexia). |
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html:p |
People with IPEX syndrome frequently develop inflammation of the skin, called |
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dermatitis. Eczema is the most common type of dermatitis that occurs in this |
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syndrome, and it causes abnormal patches of red, irritated skin. Other skin |
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disorders that cause similar symptoms are sometimes present in IPEX syndrome. |
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html:p |
The term polyendocrinopathy is used in IPEX syndrome because individuals can |
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develop multiple disorders of the endocrine glands. Type 1 diabetes mellitus is |
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an autoimmune condition involving the pancreas and is the most common endocrine |
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disorder present in people with IPEX syndrome. It usually develops within the |
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first few months of life and prevents the body from properly controlling the |
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amount of sugar in the blood. Autoimmune thyroid disease may also develop in |
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people with IPEX syndrome. The thyroid gland is a butterfly-shaped organ in the |
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lower neck that produces hormones. This gland is commonly underactive |
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(hypothyroidism) in individuals with this disorder, but may become overactive |
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(hyperthyroidism). |
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html:p |
Individuals with IPEX syndrome typically develop other types of autoimmune |
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disorders in addition to those that involve the intestines, skin, and endocrine |
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glands. Autoimmune blood disorders are common; about half of affected |
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individuals have low levels of red blood cells (anemia), platelets |
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(thrombocytopenia), or certain white blood cells (neutropenia) because these |
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cells are attacked by the immune system. In some individuals, IPEX syndrome |
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involves the liver and kidneys. |
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synonym-list |
db-key-list |
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Immune thrombocytopenia |
https://ghr.nlm.nih.gov/condition/immune-thrombocytopenia |
The incidence of immune thrombocytopenia is approximately 4 per 100,000 |
html:p |
Immune thrombocytopenia is a disorder characterized by a blood abnormality |
u |
pattern unknown |
synonym |
autoimmune thrombocytopenic purpura |
key |
2017-12-29 |
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免疫性血小板減少症 |
children and 3 per 100,000 adults. In adults with immune thrombocytopenia, women |
called thrombocytopenia, which is a shortage of blood cell fragments called |
synonym |
idiopathic thrombocytopenic purpura |
db-key |
C0398650 |
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are affected more often than men.It is likely that this condition is |
platelets that are needed for normal blood clotting. |
synonym |
immune thrombocytopenic purpura |
key |
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underdiagnosed because those with mild signs and symptoms often do not seek |
html:p |
Affected individuals can develop red or purple spots on the skin caused by |
synonym |
ITP |
db-key |
D69.3 |
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medical attention. |
bleeding just under the skin's surface. Small spots of bleeding under the skin |
synonym |
Werlhof disease |
key |
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are called purpura and larger spots are called ecchymoses. People with immune |
db-key |
D016553 |
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thrombocytopenia can have significant bleeding episodes, such as nose bleeds |
key |
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(epistaxis) or bleeding in the moist lining (mucosae) of the mouth. In severe |
db-key |
188030 |
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cases, individuals may have gastrointestinal bleeding or blood in the urine or |
key |
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stool, or heavy and prolonged menstrual bleeding (menorrhagia). In very rare |
db-key |
3002 |
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instances, bleeding inside the skull (intracranial hemorrhage) can occur, which |
key |
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can be life-threatening. A greater reduction in platelet numbers is often |
db-key |
234490009 |
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associated with more frequent bleeding episodes and an increased risk of severe |
key |
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bleeding. |
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2897005 |
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html:p |
While immune thrombocytopenia can be diagnosed at any age, there are two periods |
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when the condition is most likely to develop: early childhood and late |
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adulthood. In children, the reduction in platelets is often sudden, but platelet |
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levels usually return to normal levels within weeks to months. Immune |
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thrombocytopenia in children is often preceded by a minor infection, such as an |
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upper respiratory infection, but the relationship between the infection and |
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immune thrombocytopenia is not clear. In adults, the development of immune |
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thrombocytopenia is usually gradual and the condition tends to persist |
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throughout life. |
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related-gene-list |
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Inclusion body myopathy 2 |
https://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2 |
More than 200 people with inclusion body myopathy 2 have been reported. |
html:p |
Inclusion body myopathy 2 is a condition that primarily affects skeletal |
ar |
autosomal recessive |
GNE |
https://ghr.nlm.nih.gov/gene/GNE |
Distal myopathy with rimmed vacuoles |
db |
key |
2008-12 |
2017-12-29 |
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包涵體肌炎 |
Most are of Iranian Jewish descent; the condition affects an estimated 1 in |
muscles, which are muscles that the body uses for movement. This disorder causes |
DMRV |
GTR |
C1833373 |
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1,500 people in this population. Additionally, at least 15 people in the |
muscle weakness that appears in late adolescence or early adulthood and |
Hereditary inclusion body myopathy |
db |
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Japanese population have been diagnosed with this disorder. Inclusion body |
worsens over time. |
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HIBM |
GTR |
C1853926 |
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myopathy 2 has also been found in several other ethnic groups worldwide. |
html:p |
The first sign of inclusion body myopathy 2 is weakness of a muscle in the lower |
IBM2 |
db |
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leg called the tibialis anterior. This muscle helps control up-and-down |
Inclusion body myopathy, autosomal recessive |
GeneReviews |
ibm |
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movement of the foot. Weakness in the tibialis anterior alters the way a person |
Inclusion body myopathy, quadriceps-sparing |
db |
key |
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walks and makes it difficult to run and climb stairs. As the disorder |
Nonaka myopathy |
MeSH |
D018979 |
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progresses, weakness also develops in muscles of the upper legs, hips, |
QSM |
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shoulders, and hands. Unlike most forms of myopathy, inclusion body myopathy 2 |
Rimmed vacuole myopathy |
OMIM |
605820 |
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usually does not affect the quadriceps, which are a group of large muscles at |
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the front of the thigh. This condition also does not affect muscles of the eye |
Orphanet |
602 |
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or heart, and it does not cause neurological problems. Weakness in leg muscles |
db |
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makes walking increasingly difficult, and most people with inclusion body |
SNOMED CT |
702382000 |
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myopathy 2 require wheelchair assistance within 20 years after signs and |
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symptoms appear. |
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html:p |
People with the characteristic features of inclusion body myopathy 2 have been |
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described in several different populations. When the condition was first |
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reported in Japanese families, researchers called it distal myopathy with rimmed |
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vacuoles (DMRV) or Nonaka myopathy. When a similar disorder was discovered in |
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Iranian Jewish families, researchers called it rimmed vacuole myopathy or |
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hereditary inclusion body myopathy (HIBM). It has since become clear that these |
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conditions are variations of a single disorder caused by mutations in the same |
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gene. |
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related-gene-list |
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Inclusion body myopathy with early-onset Paget disease and frontotemporal |
https://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-with-early-onset-paget |
Although the prevalence of IBMPFD is unknown, this condition is rare. It |
html:p |
Inclusion body myopathy with early-onset Paget disease and frontotemporal |
ad |
autosomal dominant |
VCP |
https://ghr.nlm.nih.gov/gene/VCP |
IBMPFD |
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2008-12 |
2017-12-29 |
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dementia |
-disease-and-frontotemporal-dementia |
has been identified in about 26 families. |
dementia (IBMPFD) is a condition that can affect the muscles, bones, and brain. |
Inclusion body myopathy with early-onset Paget disease of bone and/or |
GTR |
C1833662 |
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html:p |
The first symptom of IBMPFD is often muscle weakness (myopathy), which typically |
frontotemporal dementia |
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appears in mid-adulthood. Weakness first occurs in muscles of the hips and |
Inclusion body myopathy with Paget disease of bone and/or frontotemporal |
GeneReviews |
ibmpfd |
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shoulders, making it difficult to climb stairs and raise the arms above the |
dementia |
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shoulders. As the disorder progresses, weakness develops in other muscles in |
Lower motor neuron degeneration with Paget-like bone disease |
MeSH |
D010001 |
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the arms and legs. Muscle weakness can also affect respiratory and heart |
Muscular dystrophy, limb-girdle, with Paget disease of bone |
db |
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(cardiac) muscles, leading to life-threatening breathing difficulties and heart |
Pagetoid amyotrophic lateral sclerosis |
MeSH |
D018979 |
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failure. |
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Pagetoid neuroskeletal syndrome |
db |
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html:p |
About half of all adults with IBMPFD develop a disorder called Paget disease of |
MeSH |
D057180 |
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bone. This disorder most often affects bones of the hips, spine, and skull, and |
db |
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the long bones of the arms and legs. Bone pain, particularly in the hips and |
OMIM |
167320 |
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spine, is usually the major symptom of Paget disease. Rarely, this condition |
db |
key |
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can weaken bones so much that they break (fracture). |
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Orphanet |
52430 |
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html:p |
In about one-third of people with IBMPFD, the disorder also affects the brain. |
db |
key |
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IBMPFD is associated with a brain condition called frontotemporal dementia, |
SNOMED CT |
703544004 |
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which becomes noticeable in a person's forties or fifties. Frontotemporal |
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dementia progressively damages parts of the brain that control reasoning, |
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personality, social skills, speech, and language. People with this condition |
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initially may have trouble speaking, remembering words and names (dysnomia), and |
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using numbers (dyscalculia). Personality changes, a loss of judgment, and |
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inappropriate social behavior are also hallmarks of the disease. As the |
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dementia worsens, affected people ultimately become unable to speak, read, or |
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care for themselves. |
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html:p |
People with IBMPFD usually live into their fifties or sixties. |
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related-gene-list |
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Incontinentia pigmenti |
https://ghr.nlm.nih.gov/condition/incontinentia-pigmenti |
Incontinentia pigmenti is an uncommon disorder. Between 900 and 1,200 |
html:p |
Incontinentia pigmenti is a condition that can affect many body systems, |
xd |
X-linked dominant |
IKBKG |
https://ghr.nlm.nih.gov/gene/IKBKG |
Bloch-Siemens-Sulzberger Syndrome |
db |
key |
2008-06 |
2017-12-29 |
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色素失調症 |
affected individuals have been reported in the scientific literature. Most of |
particularly the skin. This condition occurs much more often in females than in |
Bloch-Siemens syndrome |
GTR |
C0021171 |
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these individuals are female, but several dozen males with incontinentia |
males. |
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Bloch-Sulzberger Syndrome |
db |
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pigmenti have also been identified. |
html:p |
Incontinentia pigmenti is characterized by skin abnormalities that evolve |
IP |
GeneReviews |
i-p |
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throughout childhood and young adulthood. Many affected infants have a |
db |
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blistering rash at birth and in early infancy, which heals and is followed by |
ICD-10-CM |
Q82.3 |
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the development of wart-like skin growths. In early childhood, the skin |
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develops grey or brown patches (hyperpigmentation) that occur in a swirled |
MeSH |
D007184 |
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pattern. These patches fade with time, and adults with incontinentia pigmenti |
db |
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usually have lines of unusually light-colored skin (hypopigmentation) on their |
OMIM |
308300 |
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arms and legs. |
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db |
key |
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html:p |
Other signs and symptoms of incontinentia pigmenti can include hair loss |
Orphanet |
464 |
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(alopecia) affecting the scalp and other parts of the body, dental abnormalities |
db |
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(such as small teeth or few teeth), eye abnormalities that can lead to vision |
SNOMED CT |
367520004 |
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loss, and lined or pitted fingernails and toenails. Most people with |
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incontinentia pigmenti have normal intelligence; however, this condition may |
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affect the brain. Associated problems can include delayed development or |
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intellectual disability, seizures, and other neurological problems. |
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related-gene-list |
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Infantile neuroaxonal dystrophy |
https://ghr.nlm.nih.gov/condition/infantile-neuroaxonal-dystrophy |
Infantile neuroaxonal dystrophy is a very rare disorder. Its specific |
html:p |
Infantile neuroaxonal dystrophy is a disorder that primarily affects the nervous |
ar |
autosomal recessive |
PLA2G6 |
https://ghr.nlm.nih.gov/gene/PLA2G6 |
INAD |
db |
key |
2012-09 |
2017-12-29 |
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嬰兒神經軸索營養不良 |
incidence is unknown. |
system. Individuals with infantile neuroaxonal dystrophy typically do not have |
NBIA, PLA2G6-related |
GTR |
C0270724 |
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any symptoms at birth, but between the ages of about 6 and 18 months they begin |
neurodegeneration with brain iron accumulation, PLA2G6-related |
db |
key |
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to experience delays in acquiring new motor and intellectual skills, such as |
Seitelberger disease |
GeneReviews |
inad |
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crawling or beginning to speak. Eventually they lose previously acquired skills |
Seitelberger's disease |
db |
key |
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(developmental regression). In some cases, signs and symptoms of infantile |
MeSH |
D019150 |
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neuroaxonal dystrophy first appear later in childhood or during the teenage |
db |
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years and progress more slowly. |
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OMIM |
256600 |
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html:p |
Children with infantile neuroaxonal dystrophy experience progressive |
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key |
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difficulties with movement. They generally have muscles that are at first weak |
Orphanet |
35069 |
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and "floppy" (hypotonic), and then gradually become very stiff (spastic). |
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Eventually, affected children lose the ability to move independently. Lack of |
SNOMED CT |
230365004 |
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muscle strength causes difficulty with feeding. Muscle weakness can also result |
db |
key |
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in breathing problems that can lead to frequent infections, such as pneumonia. |
SNOMED CT |
52713000 |
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Seizures occur in some affected children. |
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html:p |
Rapid, involuntary eye movements (nystagmus), eyes that do not look in the same |
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direction (strabismus), and vision loss due to deterioration (atrophy) of the |
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nerve that carries information from the eye to the brain (the optic nerve) often |
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occur in infantile neuroaxonal dystrophy. Hearing loss may also develop. |
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Children with this disorder experience progressive deterioration of cognitive |
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functions (dementia), and they eventually lose awareness of their surroundings. |
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html:p |
Infantile neuroaxonal dystrophy is characterized by the development of swellings |
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called spheroid bodies in the axons, the fibers that extend from nerve cells |
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(neurons) and transmit impulses to muscles and other neurons. In some |
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individuals with infantile neuroaxonal dystrophy, abnormal amounts of iron |
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accumulate in a specific region of the brain called the basal ganglia. The |
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relationship of these features to the symptoms of infantile neuroaxonal |
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dystrophy is unknown. |
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related-gene-list |
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Infantile-onset ascending hereditary spastic paralysis |
https://ghr.nlm.nih.gov/condition/infantile-onset-ascending-hereditary-spastic-p |
Infantile-onset ascending hereditary spastic paralysis is a rare disorder, |
html:p |
Infantile-onset ascending hereditary spastic paralysis is one of a group of |
ar |
autosomal recessive |
ALS2 |
https://ghr.nlm.nih.gov/gene/ALS2 |
IAHSP |
db |
key |
2016-04 |
2017-12-29 |
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嬰兒發病遺傳性痙攣性癱瘓 |
aralysis |
with at least 30 cases reported in the scientific literature. |
genetic disorders known as hereditary spastic paraplegias. These disorders are |
infantile-onset ascending hereditary spastic paraplegia |
GTR |
C1846588 |
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characterized by progressive muscle stiffness (spasticity) and eventual |
infantile onset ascending spastic paralysis |
db |
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paralysis of the lower limbs (paraplegia). The spasticity and paraplegia result |
GeneReviews |
iahsp |
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from degeneration (atrophy) of motor neurons, which are specialized nerve cells |
db |
key |
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in the brain and spinal cord that control muscle movement. Hereditary spastic |
MeSH |
D010264 |
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paraplegias are divided into two types: pure and complicated. The pure types |
db |
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involve only the lower limbs, while the complicated types involve additional |
MeSH |
D015419 |
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areas of the nervous system, affecting the upper limbs and other areas of the |
db |
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body. Infantile-onset ascending hereditary spastic paralysis starts as a pure |
OMIM |
607225 |
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hereditary spastic paraplegia, with spasticity and weakness in the legs only, |
db |
key |
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but as the disorder progresses, the muscles in the arms, neck, and head become |
Orphanet |
293168 |
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involved and features of the disorder are more characteristic of the complicated |
db |
key |
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type. |
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SNOMED CT |
703543005 |
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html:p |
Affected infants are typically normal at birth, then within the first 2 years of |
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life, the initial symptoms of infantile-onset ascending hereditary spastic |
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paralysis appear. Early symptoms include exaggerated reflexes (hyperreflexia) |
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and recurrent muscle spasms in the legs. As the condition progresses, affected |
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children develop abnormal tightness and stiffness in the leg muscles and |
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weakness in the legs and arms. Over time, muscle weakness and stiffness travels |
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up (ascends) the body from the legs to the head and neck. Muscles in the head |
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and neck usually weaken during adolescence; symptoms include slow eye movements |
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and difficulty with speech and swallowing. Affected individuals may lose the |
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ability to speak (anarthria). The leg and arm muscle weakness can become so |
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severe as to lead to paralysis; as a result affected individuals require |
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wheelchair assistance by late childhood or early adolescence. Intelligence is |
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not affected in this condition. |
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A condition called juvenile primary lateral sclerosis shares many of the |
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features of infantile-onset ascending hereditary spastic paralysis. Both |
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conditions have the same genetic cause and significantly impair movement |
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beginning in childhood; however, the pattern of nerve degeneration is different. |
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Because of their similarities, these conditions are sometimes considered the |
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same disorder. |
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related-gene-list |
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Infantile-onset spinocerebellar ataxia |
https://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia |
More than 20 individuals with IOSCA have been identified in Finland. A few |
html:p |
Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that |
ar |
autosomal recessive |
TWNK |
https://ghr.nlm.nih.gov/gene/TWNK |
IOSCA |
db |
key |
2010-03 |
2017-12-29 |
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嬰兒發病脊髓小腦性共濟失調 |
individuals with similar symptoms have been reported elsewhere in Europe. |
affects the nervous system. Babies with IOSCA develop normally during the first |
Ohaha syndrome |
GTR |
C1849096 |
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year of life. During early childhood, however, they begin experiencing |
ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis |
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difficulty coordinating movements (ataxia); very weak muscle tone (hypotonia); |
GeneReviews |
sca-io |
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involuntary writhing movements of the limbs (athetosis); and decreased reflexes. |
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By their teenage years affected individuals require wheelchair assistance. |
MeSH |
D020754 |
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html:p |
People with IOSCA often develop problems with the autonomic nervous system, |
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key |
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which controls involuntary body functions. As a result, they may experience |
OMIM |
271245 |
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excessive sweating, difficulty controlling urination, and severe constipation. |
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html:p |
IOSCA also leads to vision and hearing problems that begin by about age 7. |
Orphanet |
1186 |
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Children with this disorder develop weakness in the muscles that control eye |
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movement (ophthalmoplegia). In their teenage years they experience degeneration |
SNOMED CT |
129609000 |
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of the nerves that carry information from the eyes to the brain (optic atrophy), |
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which can result in vision loss. Hearing loss caused by nerve damage |
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(sensorineural hearing loss) typically occurs during childhood and progresses to |
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profound deafness. |
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html:p |
Individuals with IOSCA may have recurrent seizures (epilepsy). These seizures |
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can lead to severe brain dysfunction (encephalopathy). |
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html:p |
Most people with IOSCA survive into adulthood. However, a few individuals with |
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IOSCA have an especially severe form of the disorder involving liver damage and |
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encephalopathy that develops during early childhood. These children do not |
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generally live past age 5. |
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related-gene-list |
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Infantile systemic hyalinosis |
https://ghr.nlm.nih.gov/condition/infantile-systemic-hyalinosis |
The prevalence of infantile systemic hyalinosis is unknown. Fewer than 20 |
html:p |
Infantile systemic hyalinosis is a disorder that severely affects many areas of |
ar |
autosomal recessive |
ANTXR2 |
https://ghr.nlm.nih.gov/gene/ANTXR2 |
inherited systemic hyalinosis |
db |
key |
2008-12 |
2017-12-29 |
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婴儿型全身性玻璃样变性 |
people with this disorder have been reported. |
the body, including the skin, joints, bones, and internal organs. Hyalinosis |
GTR |
C2745948 |
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嬰兒型全身性玻璃樣變性 |
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refers to the abnormal accumulation of a clear (hyaline) substance in body |
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tissues. The signs and symptoms of this condition are present at birth or |
|
GeneReviews |
sys-h |
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develop within the first few months of life. Infantile systemic hyalinosis is |
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characterized by painful skin bumps that frequently appear on the hands, neck, |
MeSH |
D057770 |
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scalp, ears, and nose. They also develop in joint creases and the genital |
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region. These skin bumps may be large or small and often increase in number over |
OMIM |
228600 |
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time. |
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html:p |
Lumps of noncancerous tissue also form in the muscles and internal organs of |
Orphanet |
2176 |
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children with infantile systemic hyalinosis, causing pain and severe |
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complications. Most affected individuals develop a condition called |
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SNOMED CT |
238867003 |
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protein-losing enteropathy due to the formation of lumps in their intestines. |
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This condition results in severe diarrhea, failure to gain weight and grow at |
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the expected rate (failure to thrive), and general wasting and weight loss |
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(cachexia). |
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html:p |
Infantile systemic hyalinosis is also characterized by overgrowth of the gums |
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(gingival hypertrophy). Additionally, people with this condition have joint |
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deformities (contractures) that impair movement. Affected individuals may grow |
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slowly and have bone abnormalities. |
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html:p |
Although children with infantile systemic hyalinosis have severe physical |
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limitations, mental development is typically normal. Affected individuals often |
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do not survive beyond early childhood due to chronic diarrhea and recurrent |
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infections. |
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related-gene-list |
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Inherited thyroxine-binding globulin deficiency |
https://ghr.nlm.nih.gov/condition/inherited-thyroxine-binding-globulin-deficienc |
The complete form of inherited thyroxine-binding globulin deficiency, |
html:p |
Inherited thyroxine-binding globulin deficiency is a genetic condition that |
xd |
X-linked dominant |
SERPINA7 |
https://ghr.nlm.nih.gov/gene/SERPINA7 |
TBG deficiency |
db |
key |
2009-09 |
2017-12-29 |
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遺傳性甲状腺素结合球蛋白缺乏症 |
y |
TBG-CD, affects about 1 in 15,000 newborns worldwide. The partial form, TBG-PD, |
typically does not cause any health problems. |
|
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GTR |
C1839141 |
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affects about 1 in 4,000 newborns. These conditions appear to be more common in |
html:p |
Thyroxine-binding globulin is a protein that carries hormones made or used by |
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the Australian Aborigine population and in the Bedouin population of southern |
the thyroid gland, which is a butterfly-shaped tissue in the lower neck. Thyroid |
MeSH |
D013959 |
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Israel. |
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hormones play an important role in regulating growth, brain development, and |
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the rate of chemical reactions in the body (metabolism). Most of the time, |
OMIM |
314200 |
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these hormones circulate in the bloodstream attached to thyroxine-binding |
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globulin and similar proteins. If there is a shortage (deficiency) of |
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SNOMED CT |
2241003 |
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thyroxine-binding globulin, the amount of circulating thyroid hormones is |
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reduced. |
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SNOMED CT |
41300001 |
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html:p |
Researchers have identified two forms of inherited thyroxine-binding globulin |
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deficiency: the complete form (TBG-CD), which results in a total loss of |
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thyroxine-binding globulin, and the partial form (TBG-PD), which reduces the |
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amount of this protein or alters its structure. Neither of these conditions |
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causes any problems with thyroid function. They are usually identified during |
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routine blood tests that measure thyroid hormones. |
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html:p |
Although inherited thyroxine-binding globulin deficiency does not cause any |
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health problems, it can be mistaken for more serious thyroid disorders (such as |
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hypothyroidism). Therefore, it is important to diagnose inherited |
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thyroxine-binding globulin deficiency to avoid unnecessary treatments. |
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insulin-like growth factor I deficiency |
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第一型類胰島素生長因子缺乏症 |
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Interferon-γ receptor 1 (IFNGR1) deficiency |
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丙型干擾素受體1缺陷 |
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related-gene-list |
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Intervertebral disc disease |
https://ghr.nlm.nih.gov/condition/intervertebral-disc-disease |
Intervertebral disc disease is estimated to affect about 5 percent of the |
html:p |
Intervertebral disc disease is a common condition characterized by the breakdown |
u |
pattern unknown |
ACAN |
https://ghr.nlm.nih.gov/gene/ACAN |
discogenic disease |
db |
key |
2016-10 |
2017-12-29 |
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椎间盘突出 |
population in developed countries each year. Most individuals experience disc |
(degeneration) of one or more of the discs that separate the bones of the spine |
related-gene |
gene-symbol |
ghr-page |
discogenic disorder |
GTR |
C0158252 |
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degeneration as they age; however, the severity of the degeneration and the pain |
(vertebrae), causing pain in the back or neck and frequently in the legs and |
ASPN |
https://ghr.nlm.nih.gov/gene/ASPN |
disorder of intervertebral disc |
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associated with it varies. |
arms. The intervertebral discs provide cushioning between vertebrae and absorb |
related-gene |
gene-symbol |
ghr-page |
IDD |
ICD-10-CM |
M50.3 |
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pressure put on the spine. |
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CILP |
https://ghr.nlm.nih.gov/gene/CILP |
intervertebral disc degeneration |
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html:p |
While the discs in the lower (lumbar) region of the spine are most often |
related-gene |
gene-symbol |
ghr-page |
intervertebral disc disorder |
ICD-10-CM |
M50.9 |
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affected in intervertebral disc disease, any part of the spine can have disc |
COL1A1 |
https://ghr.nlm.nih.gov/gene/COL1A1 |
intervertebral disk degeneration |
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degeneration. Depending on the location of the affected disc or discs, |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M51 |
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intervertebral disc disease can cause periodic or chronic pain in the back or |
COL9A2 |
https://ghr.nlm.nih.gov/gene/COL9A2 |
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neck. Pain is often worse when sitting, bending, twisting, or lifting objects. |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M51.3 |
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html:p |
Degenerated discs are prone to out-pouching (herniation); the protruding disc |
COL9A3 |
https://ghr.nlm.nih.gov/gene/COL9A3 |
db |
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can press against one of the spinal nerves that run from the spinal cord to the |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M51.8 |
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rest of the body. This pressure causes pain, weakness, and numbness in the back |
COL11A1 |
https://ghr.nlm.nih.gov/gene/COL11A1 |
db |
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and legs. Herniated discs often cause nerve pain called sciatica that travels |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D055959 |
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along the sciatic nerve, which runs from the lower back down the length of each |
IGF1R |
https://ghr.nlm.nih.gov/gene/IGF1R |
db |
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leg. |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
603932 |
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html:p |
As a disc degenerates, small bony outgrowths (bone spurs) may form at the edges |
IL1A |
https://ghr.nlm.nih.gov/gene/IL1A |
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of the affected vertebrae. These bone spurs may pinch (compress) the spinal |
related-gene |
gene-symbol |
ghr-page |
|
SNOMED CT |
77547008 |
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nerves, leading to weakness or numbness in the arms or legs. If the bone spurs |
MMP2 |
https://ghr.nlm.nih.gov/gene/MMP2 |
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compress the spinal cord, affected individuals can develop problems with walking |
related-gene |
gene-symbol |
ghr-page |
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and bladder and bowel control. Over time, a degenerating disc may break down |
MMP9 |
https://ghr.nlm.nih.gov/gene/MMP9 |
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completely and leave no space between vertebrae, which can result in impaired |
related-gene |
gene-symbol |
ghr-page |
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movement, pain, and nerve damage. |
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THBS2 |
https://ghr.nlm.nih.gov/gene/THBS2 |
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related-gene |
gene-symbol |
ghr-page |
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VDR |
https://ghr.nlm.nih.gov/gene/VDR |
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related-gene-list |
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Intestinal pseudo-obstruction |
https://ghr.nlm.nih.gov/condition/intestinal-pseudo-obstruction |
The overall prevalence of intestinal pseudo-obstruction is unknown. |
html:p |
Intestinal pseudo-obstruction is a condition characterized by impairment of the |
ad |
autosomal dominant |
ACTG2 |
https://ghr.nlm.nih.gov/gene/ACTG2 |
chronic idiopathic intestinal pseudo-obstruction |
db |
key |
2017-12 |
2017-12-29 |
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假性腸梗阻 |
Researchers in Japan have estimated the prevalence of chronic intestinal |
muscle contractions that move food through the digestive tract. It can occur at |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
CIIP |
GTR |
C1848221 |
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pseudo-obstruction in that country as 9 cases per million people. |
any time of life, and its symptoms range from mild to severe. The condition may |
ar |
autosomal recessive |
FLNA |
https://ghr.nlm.nih.gov/gene/FLNA |
CIPO |
db |
key |
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arise from abnormalities of the gastrointestinal muscles themselves (myogenic) |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
congenital short bowel syndrome |
GTR |
C1848586 |
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or from problems with the nerves that control the muscle contractions |
xr |
X-linked recessive |
LMOD1 |
https://ghr.nlm.nih.gov/gene/LMOD1 |
enteric neuropathy |
db |
key |
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(neurogenic). |
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related-gene |
gene-symbol |
ghr-page |
familial visceral myopathy |
GTR |
C1855732 |
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html:p |
Intestinal pseudo-obstruction leads to a buildup of partially digested food in |
MYH11 |
https://ghr.nlm.nih.gov/gene/MYH11 |
familial visceral neuropathy |
db |
key |
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the intestines. This buildup can cause abdominal swelling (distention) and pain, |
related-gene |
gene-symbol |
ghr-page |
IPO |
GTR |
C1855733 |
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nausea, vomiting, and constipation or diarrhea. Affected individuals experience |
MYLK |
https://ghr.nlm.nih.gov/gene/MYLK |
paralytic ileus |
db |
key |
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loss of appetite and impaired ability to absorb nutrients, which may lead to |
related-chromosome |
name |
ghr-page |
pseudo-obstruction of intestine |
GTR |
C1864996 |
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malnutrition. These symptoms resemble those of an intestinal blockage |
X |
https://ghr.nlm.nih.gov/chromosome/X |
pseudointestinal obstruction syndrome |
db |
key |
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(obstruction), but in intestinal pseudo-obstruction no blockage is found. |
pseudoobstructive syndrome |
GeneReviews |
actg2-dis |
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html:p |
Depending on the cause of intestinal pseudo-obstruction, affected individuals |
db |
key |
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can have additional signs and symptoms. Some people with intestinal |
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ICD-10-CM |
K56.0 |
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pseudo-obstruction have bladder dysfunction such as an inability to pass urine. |
db |
key |
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Other features may include decreased muscle tone (hypotonia) or stiffness |
MeSH |
D007418 |
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(spasticity) of the torso and limbs, weakness in the muscles that control eye |
db |
key |
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movement (ophthalmoplegia), intellectual disability, seizures, unusual facial |
OMIM |
243180 |
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features, or recurrent infections. |
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db |
key |
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html:p |
When intestinal pseudo-obstruction occurs by itself, it is called primary or |
OMIM |
243185 |
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idiopathic intestinal pseudo-obstruction. The disorder can also develop as a |
db |
key |
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complication of another health problem; in these cases, it is called secondary |
OMIM |
277320 |
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intestinal pseudo-obstruction. The condition can be episodic (acute) or |
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db |
key |
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persistent (chronic). |
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OMIM |
300048 |
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db |
key |
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OMIM |
609629 |
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db |
key |
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SNOMED CT |
235825006 |
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db |
key |
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SNOMED CT |
55525008 |
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db |
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related-gene-list |
|
SNOMED CT |
715201005 |
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Intrahepatic cholestasis of pregnancy |
https://ghr.nlm.nih.gov/condition/intrahepatic-cholestasis-of-pregnancy |
Intrahepatic cholestasis of pregnancy is estimated to affect 1 percent of |
html:p |
Intrahepatic cholestasis of pregnancy is a liver disorder that occurs in |
ad |
autosomal dominant |
ABCB4 |
https://ghr.nlm.nih.gov/gene/ABCB4 |
obstetric cholestasis |
db |
key |
2015-05 |
2017-12-29 |
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肝內膽汁淤積症妊娠 |
women of Northern European ancestry. The condition is more common in certain |
pregnant women. Cholestasis is a condition that impairs the release of a |
related-gene |
gene-symbol |
ghr-page |
pregnancy-related cholestasis |
GTR |
C0268318 |
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populations, such as women of Araucanian Indian ancestry in Chile or women of |
digestive fluid called bile from liver cells. As a result, bile builds up in the |
ABCB11 |
https://ghr.nlm.nih.gov/gene/ABCB11 |
recurrent intrahepatic cholestasis of pregnancy |
db |
key |
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Scandinavian ancestry. This condition is found less frequently in other |
liver, impairing liver function. Because the problems with bile release occur |
GeneReviews |
pfic |
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populations. |
within the liver (intrahepatic), the condition is described as intrahepatic |
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db |
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cholestasis. Intrahepatic cholestasis of pregnancy usually becomes apparent in |
MeSH |
D002780 |
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the third trimester of pregnancy. Bile flow returns to normal after delivery of |
db |
key |
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the baby, and the signs and symptoms of the condition disappear. However, they |
OMIM |
147480 |
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can return during later pregnancies. |
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db |
key |
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html:p |
This condition causes severe itchiness (pruritus) in the expectant mother. The |
Orphanet |
69665 |
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itchiness usually begins on the palms of the hands and the soles of the feet and |
db |
key |
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then spreads to other parts of the body. Occasionally, affected women have |
SNOMED CT |
235888006 |
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yellowing of the skin and whites of the eyes (jaundice). Some studies have shown |
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that women with intrahepatic cholestasis of pregnancy are more likely to |
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develop gallstones sometime in their life than women who do not have the |
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condition. |
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html:p |
Intrahepatic cholestasis of pregnancy can cause problems for the unborn baby. |
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This condition is associated with an increased risk of premature delivery and |
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stillbirth. Additionally, some infants born to mothers with intrahepatic |
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cholestasis of pregnancy have a slow heart rate and a lack of oxygen during |
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delivery (fetal distress). |
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related-gene-list |
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Intranuclear rod myopathy |
https://ghr.nlm.nih.gov/condition/intranuclear-rod-myopathy |
Intranuclear rod myopathy is a rare disorder that has been identified in |
html:p |
Intranuclear rod myopathy is a disorder that primarily affects skeletal muscles, |
ad |
autosomal dominant |
ACTA1 |
https://ghr.nlm.nih.gov/gene/ACTA1 |
intranuclear nemaline rod myopathy |
db |
key |
2012-04 |
2017-12-29 |
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|
核內棒肌病 |
only a small number of individuals. Its exact prevalence is unknown. |
which are muscles that the body uses for movement. People with intranuclear rod |
code |
memo |
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nemaline myopathy with exclusively intranuclear rods |
GTR |
C1834336 |
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intranuclear nemaline rod myopathy |
myopathy have severe muscle weakness (myopathy) and poor muscle tone |
n |
not inherited |
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db |
key |
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Nemaline线状肌肉病变 |
|
(hypotonia) throughout the body. Signs and symptoms of this condition are |
MeSH |
D017696 |
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apparent in infancy and include feeding and swallowing difficulties, a weak cry, |
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and difficulty with controlling head movements. Affected babies are sometimes |
OMIM |
161800 |
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described as "floppy" and may be unable to move on their own. |
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html:p |
The severe muscle weakness that occurs in intranuclear rod myopathy also affects |
SNOMED CT |
129621001 |
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the muscles used for breathing. Individuals with this disorder may take shallow |
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breaths (hypoventilate), especially during sleep, resulting in a shortage of |
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oxygen and a buildup of carbon dioxide in the blood. Frequent respiratory |
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infections and life-threatening breathing difficulties can occur. Because of the |
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respiratory problems, most affected individuals do not survive past infancy. |
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Those who do survive have delayed development of motor skills such as sitting, |
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crawling, standing, and walking. |
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html:p |
The name intranuclear rod myopathy comes from characteristic abnormal rod-shaped |
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structures that can be seen in the nucleus of muscle cells when muscle tissue |
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is viewed under a microscope. |
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related-gene-list |
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Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia |
https://ghr.nlm.nih.gov/condition/intrauterine-growth-restriction-metaphyseal-dy |
IMAGe syndrome is very rare, with only about 20 cases reported in the |
html:p |
The combination of intrauterine growth restriction, metaphyseal dysplasia, |
ad |
autosomal dominant |
CDKN1C |
https://ghr.nlm.nih.gov/gene/CDKN1C |
IMAGe anomaly |
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2013-04 |
2017-12-29 |
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congenita, and genital anomalies |
splasia-adrenal-hypoplasia-congenita-and-genital-anomalies |
medical literature. The condition has been diagnosed more often in males than in |
adrenal hypoplasia congenita 先天性腎上腺發育不良, and genital anomalies is commonly known by the |
IMAGe association |
GTR |
C1846009 |
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females, probably because females do not have associated genital abnormalities. |
acronym IMAGe. This rare syndrome has signs and symptoms that affect many parts |
IMAGe syndrome |
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of the body. |
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GeneReviews |
image |
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html:p |
Most affected individuals grow slowly before birth (intrauterine growth |
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restriction) and are small in infancy. They have skeletal abnormalities that |
MeSH |
D000015 |
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often become apparent in early childhood, although these abnormalities are |
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usually mild and can be difficult to recognize on x-rays. The most common bone |
OMIM |
614732 |
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changes are metaphyseal dysplasia and epiphyseal dysplasia; these are |
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malformations of the ends of long bones in the arms and legs. Some affected |
Orphanet |
85173 |
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individuals also have an abnormal side-to-side curvature of the spine |
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(scoliosis) or thinning of the bones (osteoporosis). |
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SNOMED CT |
702384004 |
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html:p |
Adrenal hypoplasia congenita is the most severe feature of IMAGe syndrome. The |
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adrenal glands are a pair of small glands on top of each kidney. They produce a |
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variety of hormones that regulate many essential functions in the body. |
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Underdevelopment (hypoplasia) of these glands prevents them from producing |
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enough hormones, a condition known as adrenal insufficiency. The signs of |
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adrenal insufficiency begin shortly after birth and include vomiting, difficulty |
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with feeding, dehydration, extremely low blood sugar (hypoglycemia), and shock. |
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If untreated, these complications can be life-threatening. |
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html:p |
The genital abnormalities associated with IMAGe syndrome occur only in affected |
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males. They include an unusually small penis (micropenis), undescended testes |
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(cryptorchidism), and the opening of the urethra on the underside of the penis |
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(hypospadias). |
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html:p |
Several additional signs and symptoms have been reported in people with IMAGe |
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syndrome. Some affected individuals have distinctive facial features, such as a |
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prominent forehead, low-set ears, and a short nose with a flat nasal bridge. |
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Less commonly, people with this condition have premature fusion of certain bones |
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of the skull (craniosynostosis), a split in the soft flap of tissue that hangs |
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from the back of the mouth (cleft or bifid uvula), a high-arched roof of the |
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mouth (palate), and a small chin (micrognathia). Other possible features of |
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IMAGe syndrome include high levels of calcium in the blood (hypercalcemia) or |
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urine (hypercalcuria) and a shortage of growth hormone in childhood that results |
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in short stature. |
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inheritance-pattern-list |
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IRAK-4 deficiency |
https://ghr.nlm.nih.gov/condition/irak-4-deficiency |
IRAK-4 deficiency is a very rare condition, although the exact prevalence |
html:p |
IRAK-4 deficiency is an inherited disorder of the immune system (primary |
ar |
autosomal recessive |
gene-symbol |
synonym |
interleukin-1 receptor-associated kinase 4 deficiency |
db-key |
db |
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2011-11 |
2017-12-29 |
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(Immune) |
is unknown. At least 49 individuals with this condition have been described in |
immunodeficiency). This immunodeficiency leads to recurrent infections by a |
IRAK4 |
synonym |
IRAK4 deficiency |
GTR |
C1843256 |
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the scientific literature. |
subset of bacteria known as pyogenic bacteria but not by other infectious |
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db-key |
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agents. (Infection with pyogenic bacteria causes the production of pus.) The |
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MeSH |
D007153 |
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html:i |
html:i |
bacteria. Most people with this condition have their first bacterial infection |
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db-key |
db |
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Streptococcus pneumoniae |
Pseudomonas aeruginosa |
before age 2, and the infections can be life-threatening in infancy and |
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OMIM |
607676 |
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childhood. Infections become less frequent with age. |
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db-key |
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html:p |
Most people with IRAK-4 deficiency have invasive bacterial infections, which can |
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Orphanet |
70592 |
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involve the blood (septicemia), the membrane covering the brain and spinal cord |
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db-key |
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(meningitis), or the joints (leading to inflammation and arthritis). Invasive |
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SNOMED CT |
699869003 |
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infections can also cause areas of tissue breakdown and pus production |
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(abscesses) on internal organs. In addition, affected individuals can have |
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localized infections of the upper respiratory tract, skin, or eyes. Although |
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fever is a common reaction to bacterial infections, many people with IRAK-4 |
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deficiency do not at first develop a high fever in response to these infections, |
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even if the infection is severe. |
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related-gene-list |
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Iron-refractory iron deficiency anemia |
https://ghr.nlm.nih.gov/condition/iron-refractory-iron-deficiency-anemia |
Although iron deficiency anemia is relatively common, the prevalence of the |
html:p |
Iron-refractory iron deficiency anemia is one of many types of anemia, which is |
ar |
autosomal recessive |
TMPRSS6 |
https://ghr.nlm.nih.gov/gene/TMPRSS6 |
anemia, hypochromic microcytic, with defect in iron metabolism |
db |
key |
2014-07 |
2017-12-29 |
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缺鐵性貧血 |
iron-refractory form of the disease is unknown. At least 50 cases have been |
a group of conditions characterized by a shortage of healthy red blood cells. |
IRIDA |
GTR |
C0085576 |
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described in the medical literature. Researchers suspect that iron-refractory |
This shortage prevents the blood from carrying an adequate supply of oxygen to |
IRIDA syndrome |
db |
key |
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iron deficiency anemia is underdiagnosed because affected individuals with very |
the body's tissues. |
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iron-handling disorder, hereditary |
MeSH |
D018798 |
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mild symptoms may never come to medical attention. |
html:p |
Iron-refractory iron deficiency anemia results from an inadequate amount |
db |
key |
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(deficiency) of iron in the bloodstream. It is described as "iron-refractory" |
|
OMIM |
206200 |
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because the condition is totally resistant (refractory) to treatment with iron |
db |
key |
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given orally and partially resistant to iron given in other ways, such as |
|
Orphanet |
209981 |
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intravenously (by IV). In people with this form of anemia, red blood cells are |
db |
key |
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abnormally small (microcytic) and pale (hypochromic). The symptoms of |
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SNOMED CT |
722005000 |
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iron-refractory iron deficiency anemia can include tiredness (fatigue), |
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weakness, pale skin, and other complications. These symptoms are most pronounced |
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during childhood, although they tend to be mild. Affected individuals usually |
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have normal growth and development. |
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related-gene-list |
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Isobutyryl-CoA dehydrogenase deficiency |
https://ghr.nlm.nih.gov/condition/isobutyryl-coa-dehydrogenase-deficiency |
IBD deficiency is a rare disorder; approximately 22 cases have been |
html:p |
Isobutyryl-CoA dehydrogenase (IBD) deficiency is a condition that disrupts the |
ar |
autosomal recessive |
ACAD8 |
https://ghr.nlm.nih.gov/gene/ACAD8 |
deficiency of isobutyryl-CoA dehydrogenase |
db |
key |
2010-06 |
2017-12-29 |
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Isobutyryl-CoA dehydrogenase defect |
reported in the medical literature. |
breakdown of certain proteins. Normally, proteins from food are broken down into |
IBD deficiency |
GTR |
C1969809 |
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Isobutyryl-CoA去氫酵素缺乏症 |
parts called amino acids. Amino acids can be further processed to provide |
isobutyryl-coenzyme A dehydrogenase deficiency |
db |
key |
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energy for growth and development. People with IBD deficiency have inadequate |
MeSH |
D000592 |
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levels of an enzyme that helps break down a particular amino acid called valine. |
db |
key |
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html:p |
Most people with IBD deficiency are asymptomatic, which means they do not have |
OMIM |
611283 |
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any signs or symptoms of the condition. A few children with IBD deficiency have |
db |
key |
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developed features such as a weakened and enlarged heart (dilated |
|
Orphanet |
79159 |
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cardiomyopathy), weak muscle tone (hypotonia), and developmental delay. This |
db |
key |
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condition may also cause low numbers of red blood cells (anemia) and very low |
SNOMED CT |
445274004 |
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blood levels of carnitine, which is a natural substance that helps convert |
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certain foods into energy. The range of signs and symptoms associated with IBD |
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deficiency remains unclear because very few affected individuals have been |
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reported. |
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related-gene-list |
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Isodicentric chromosome 15 syndrome |
https://ghr.nlm.nih.gov/condition/isodicentric-chromosome-15-syndrome |
Isodicentric chromosome 15 syndrome occurs in about 1 in 30,000 newborns. |
html:p |
Isodicentric chromosome 15 syndrome is a developmental disorder with a broad |
n |
not inherited |
15 |
https://ghr.nlm.nih.gov/chromosome/15 |
duplication/inversion 15q11 |
db |
key |
2012-09 |
2017-12-29 |
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spectrum of features. The signs and symptoms vary among affected individuals. |
idic(15) |
GeneReviews |
dup15q |
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html:p |
Poor muscle tone is commonly seen in individuals with isodicentric chromosome 15 |
inv dup(15) |
db |
key |
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syndrome and contributes to delayed development and impairment of motor skills, |
inverted duplication 15 |
MeSH |
D025063 |
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including sitting and walking. |
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isodicentric chromosome 15 |
db |
key |
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html:p |
Babies with isodicentric chromosome 15 syndrome often have trouble feeding due |
non-distal tetrasomy 15q |
Orphanet |
3306 |
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to weak facial muscles that impair sucking and swallowing; many also have |
db |
key |
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backflow of acidic stomach contents into the esophagus (gastroesophageal |
SNOMED CT |
16569009 |
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reflux). These feeding problems may make it difficult for them to gain weight. |
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html:p |
Intellectual disability in isodicentric chromosome 15 syndrome can range from |
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mild to profound. Speech is usually delayed and often remains absent or |
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impaired. Behavioral difficulties often associated with isodicentric chromosome |
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15 syndrome include hyperactivity, anxiety, and frustration leading to tantrums. |
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Other behaviors resemble features of autistic spectrum disorders, such as |
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repeating the words of others (echolalia), difficulty with changes in routine, |
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and problems with social interaction. |
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html:p |
About two-thirds of people with isodicentric chromosome 15 syndrome have |
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seizures. In more than half of affected individuals, the seizures begin in the |
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first year of life. |
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html:p |
About 40 percent of individuals with isodicentric chromosome 15 syndrome are |
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born with eyes that do not look in the same direction (strabismus). Hearing loss |
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in childhood is common and is usually caused by fluid buildup in the middle |
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ear. This hearing loss is often temporary. However, if left untreated during |
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early childhood, the hearing loss can interfere with language development and |
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worsen the speech problems associated with this disorder. |
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html:p |
Other problems associated with isodicentric chromosome 15 syndrome in some |
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affected individuals include minor genital abnormalities in males such as |
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undescended testes (cryptorchidism) and a spine that curves to the side |
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(scoliosis). |
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related-gene-list |
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Isolated Duane retraction syndrome |
https://ghr.nlm.nih.gov/condition/isolated-duane-retraction-syndrome |
Isolated Duane retraction syndrome affects an estimated 1 in 1,000 people |
html:p |
Isolated Duane retraction syndrome is a disorder of eye movement. This |
ad |
autosomal dominant |
CHN1 |
https://ghr.nlm.nih.gov/gene/CHN1 |
co-contractive retraction syndrome |
db |
key |
2009-03 |
2017-12-29 |
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單純Duane眼球後退綜合征 |
worldwide. This condition accounts for 1 percent to 5 percent of all cases of |
condition prevents outward movement of the eye (toward the ear), and in some |
code |
memo |
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Duane anomaly, isolated |
GTR |
C0013261 |
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(Eyes) |
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abnormal eye alignment (strabismus). For unknown reasons, isolated Duane |
cases may also limit inward eye movement (toward the nose). As the eye moves |
ar |
autosomal recessive |
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Duane retraction syndrome |
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syndrome affects females more often than males. |
inward, the eyelids partially close and the eyeball pulls back (retracts) into |
Duane syndrome |
GTR |
C0751083 |
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its socket. Most commonly, only one eye is affected. About 10 percent of people |
Duane's syndrome |
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with isolated Duane retraction syndrome develop amblyopia ("lazy eye"), a |
ocular retraction syndrome |
GTR |
C0994516 |
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condition that causes vision loss in the affected eye. |
Stilling-Turk-Duane syndrome |
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html:p |
About 70 percent of all cases of Duane retraction syndrome are isolated, which |
GeneReviews |
duane |
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means they occur without other signs and symptoms. Duane retraction syndrome can |
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also occur as part of syndromes that affect other areas of the body. For |
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ICD-10-CM |
H50.81 |
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example, Duane-radial ray syndrome is characterized by this eye disorder in |
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conjunction with abnormalities of bones in the arms and hands. |
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ICD-10-CM |
H50.811 |
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html:p |
Researchers have identified three forms of isolated Duane retraction syndrome, |
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designated types I, II, and III. The types vary in which eye movements are most |
ICD-10-CM |
H50.812 |
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severely restricted (inward, outward, or both). All three types are |
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characterized by retraction of the eyeball as the eye moves inward. |
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MeSH |
D004370 |
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db |
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Orphanet |
233 |
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db |
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related-gene-list |
|
SNOMED CT |
60318001 |
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Isolated ectopia lentis |
https://ghr.nlm.nih.gov/condition/isolated-ectopia-lentis |
The prevalence of isolated ectopia lentis is unknown. In Denmark, an |
html:p |
Isolated ectopia lentis is a condition that affects the eyes, specifically the |
ad |
autosomal dominant |
ADAMTSL4 |
https://ghr.nlm.nih.gov/gene/ADAMTSL4 |
congenital ectopia lentis |
db |
key |
2015-03 |
2017-12-29 |
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estimated 6.4 per 100,000 individuals have ectopia lentis, but a large |
positioning of the lens. The lens is a clear structure at the front of the eye |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ectopia lentis |
GTR |
C1851286 |
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proportion of these cases (about 75 percent) are syndromic. |
that helps focus light. In people with isolated ectopia lentis, the lens in one |
ar |
autosomal recessive |
FBN1 |
https://ghr.nlm.nih.gov/gene/FBN1 |
lens subluxation |
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or both eyes is not centrally positioned as it should be but is off-center |
subluxation of lens |
GTR |
C2673634 |
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(displaced). Isolated ectopia lentis usually becomes apparent in childhood. The |
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lens may drift further off-center over time. |
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GeneReviews |
adamtsl4-eyes |
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html:p |
Vision problems are common in isolated ectopia lentis. Affected individuals |
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often have nearsightedness (myopia) and can have an irregular curvature of the |
ICD-10-CM |
H27.11 |
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lens or a structure that covers the front of the eye (the cornea), which causes |
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blurred vision (astigmatism). They may also develop clouding of the lenses |
ICD-10-CM |
H27.111 |
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(cataracts) or increased pressure in the eyes (glaucoma) at an earlier age than |
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other adults. In a small number of people with isolated ectopia lentis, tearing |
ICD-10-CM |
H27.112 |
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of the back lining of the eye (retinal detachment) occurs, which can lead to |
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further vision problems and possible blindness. |
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ICD-10-CM |
H27.113 |
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html:p |
In individuals with isolated ectopia lentis, each eye can be affected |
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differently. In addition, the eye problems vary among affected individuals, even |
ICD-10-CM |
H27.119 |
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those within the same family. |
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key |
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html:p |
Ectopia lentis is classified as isolated when it occurs alone without signs and |
MeSH |
D004479 |
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symptoms affecting other body systems. Ectopia lentis can also be classified as |
db |
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syndromic, when it is part of a syndrome that affects multiple parts of the |
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OMIM |
129600 |
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body. Ectopia lentis is a common feature of genetic syndromes such as Marfan |
db |
key |
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syndrome and Weill-Marchesani syndrome. |
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OMIM |
225100 |
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db |
key |
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Orphanet |
1885 |
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db |
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SNOMED CT |
65814009 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
74969002 |
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Isolated growth hormone deficiency |
https://ghr.nlm.nih.gov/condition/isolated-growth-hormone-deficiency |
The incidence of isolated growth hormone deficiency is estimated to be 1 in |
html:p |
Isolated growth hormone deficiency is a condition caused by a severe shortage or |
ad |
autosomal dominant |
BTK |
https://ghr.nlm.nih.gov/gene/BTK |
dwarfism, growth hormone deficiency |
db |
key |
2012-02 |
2017-12-29 |
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(Blood) |
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4,000 to 10,000 individuals worldwide. |
absence of growth hormone. Growth hormone is a protein that is necessary for |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
dwarfism, pituitary |
GTR |
C0271567 |
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單純生长激素缺乏症 |
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the normal growth of the body's bones and tissues. Because they do not have |
ar |
autosomal recessive |
GH1 |
https://ghr.nlm.nih.gov/gene/GH1 |
growth hormone deficiency dwarfism |
db |
key |
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enough of this hormone, people with isolated growth hormone deficiency commonly |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
isolated GH deficiency |
GTR |
C0342573 |
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experience a failure to grow at the expected rate and have unusually short |
xr |
X-linked recessive |
GHRHR |
https://ghr.nlm.nih.gov/gene/GHRHR |
isolated HGH deficiency |
db |
key |
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stature. This condition is usually apparent by early childhood. |
isolated human growth hormone deficiency |
GTR |
C0472813 |
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html:p |
There are four types of isolated growth hormone deficiency differentiated by the |
isolated somatotropin deficiency |
db |
key |
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severity of the condition, the gene involved, and the inheritance pattern. |
isolated somatotropin deficiency disorder |
GTR |
C2748571 |
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html:p |
Isolated growth hormone deficiency type IA is caused by an absence of growth |
db |
key |
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hormone and is the most severe of all the types. In people with type IA, growth |
ICD-10-CM |
D80.0 |
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failure is evident in infancy as affected babies are shorter than normal at |
db |
key |
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birth. |
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ICD-10-CM |
E23.0 |
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html:p |
People with isolated growth hormone deficiency type IB produce very low levels |
db |
key |
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of growth hormone. As a result, type IB is characterized by short stature, but |
MeSH |
D004393 |
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this growth failure is typically not as severe as in type IA. Growth failure in |
db |
key |
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people with type IB is usually apparent in early to mid-childhood. |
OMIM |
173100 |
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html:p |
Individuals with isolated growth hormone deficiency type II have very low levels |
db |
key |
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of growth hormone and short stature that varies in severity. Growth failure in |
OMIM |
262400 |
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these individuals is usually evident in early to mid-childhood. It is estimated |
db |
key |
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that nearly half of the individuals with type II have underdevelopment of the |
OMIM |
307200 |
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pituitary gland (pituitary hypoplasia). The pituitary gland is located at the |
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db |
key |
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base of the brain and produces many hormones, including growth hormone. |
OMIM |
612781 |
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html:p |
Isolated growth hormone deficiency type III is similar to type II in that |
db |
key |
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affected individuals have very low levels of growth hormone and short stature |
Orphanet |
231662 |
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that varies in severity. Growth failure in type III is usually evident in early |
db |
key |
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to mid-childhood. People with type III may also have a weakened immune system |
Orphanet |
231671 |
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and are prone to frequent infections. They produce very few B cells, which are |
db |
key |
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specialized white blood cells that help protect the body against infection |
|
Orphanet |
231679 |
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(agammaglobulinemia). |
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db |
key |
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Orphanet |
231692 |
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db |
key |
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SNOMED CT |
18200000 |
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db |
key |
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SNOMED CT |
2109003 |
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db |
key |
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SNOMED CT |
234533006 |
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db |
key |
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SNOMED CT |
237687003 |
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db |
key |
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Isolated Hemihypertrophy (Hemihyperplasia), IH |
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孤立的半高血壓 |
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related-gene-list |
|
SNOMED CT |
7990002 |
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Isolated hyperchlorhidrosis |
https://ghr.nlm.nih.gov/condition/isolated-hyperchlorhidrosis |
Isolated hyperchlorhidrosis is a rare condition, although its prevalence is |
html:p |
Isolated hyperchlorhidrosis is characterized by the excessive loss of salt |
ar |
autosomal recessive |
CA12 |
https://ghr.nlm.nih.gov/gene/CA12 |
carbonic anhydrase XII deficiency |
db |
key |
2014-05 |
2017-12-29 |
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孤立的高氯血症 |
unknown. The condition has been found mostly in the Bedouin population of |
(sodium chloride or NaCl) in sweat. In particular, "hyperchlorhidrosis" refers |
GTR |
CN219251 |
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southern Israel. |
to the high levels of chloride found in sweat, although both sodium and chloride |
db |
key |
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are released. Because the salt is abnormally released from the body in sweat, |
MeSH |
D014883 |
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there are lower than normal levels of sodium in fluids inside the body |
|
db |
key |
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(hyponatremia). Most infants with isolated hyperchlorhidrosis experience one or |
OMIM |
143860 |
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more episodes of dehydration with low levels of sodium in the blood |
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db |
key |
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(hyponatremic dehydration), which can require hospitalization. These episodes |
SNOMED CT |
709413001 |
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typically follow a mild illness that causes vomiting or diarrhea. Affected |
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infants also have poor feeding and an inability to grow and gain weight at the |
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expected rate (failure to thrive). By early childhood, though, weight and height |
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usually catch up to normal, although the abnormal loss of salt still remains. |
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These individuals may still experience dangerous hyponatremia when they sweat |
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excessively, for example in warm temperatures or when exercising. |
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html:p |
While hyperchlorhidrosis can occur as one of several features of other |
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conditions, such as cystic fibrosis, people with isolated hyperchlorhidrosis do |
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not have the additional signs and symptoms of these other conditions. |
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related-gene-list |
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Isolated hyperCKemia |
https://ghr.nlm.nih.gov/condition/isolated-hyperckemia |
The prevalence of isolated hyperCKemia is unknown. Because the condition |
html:p |
Isolated hyperCKemia is a condition characterized by elevated levels of an |
ad |
autosomal dominant |
CAV3 |
https://ghr.nlm.nih.gov/gene/CAV3 |
elevated serum CPK |
db |
key |
2014-05 |
2017-12-29 |
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has no symptoms, it is likely that some cases never come to medical attention. |
enzyme called creatine kinase in the blood. In affected individuals, levels of |
elevated serum creatine phosphokinase |
GTR |
C0241005 |
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this enzyme are typically 3 to 10 times higher than normal. While elevated |
H-CK |
db |
key |
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creatine kinase often accompanies various muscle diseases, individuals with |
idiopathic hyperCKemia |
GeneReviews |
cav |
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isolated hyperCKemia have no muscle weakness or other symptoms. Some people with |
idiopathic persistent elevation of serum creatine kinase |
db |
key |
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this condition have abnormalities of muscle cells that can be seen with a |
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MeSH |
D009135 |
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microscope, such as unusual variability in the size of muscle fibers, but these |
db |
key |
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changes do not affect the function of the muscle. |
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OMIM |
123320 |
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db |
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related-gene-list |
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SNOMED CT |
432352001 |
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Isolated lissencephaly sequence |
https://ghr.nlm.nih.gov/condition/isolated-lissencephaly-sequence |
ILS affects approximately 1 in 100,000 newborns. |
html:p |
Isolated lissencephaly sequence (ILS) is a condition that affects brain |
ad |
autosomal dominant |
DCX |
https://ghr.nlm.nih.gov/gene/DCX |
classical lissencephaly |
db |
key |
2013-07 |
2017-12-29 |
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孤立的平腦症 |
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development before birth. Normally, the cells that make up the exterior of the |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ILS |
GTR |
C1843916 |
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brain (cerebral cortex) are well-organized, multi-layered, and arranged into |
xd |
X-linked dominant |
PAFAH1B1 |
https://ghr.nlm.nih.gov/gene/PAFAH1B1 |
LIS1 |
db |
key |
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many folds and grooves (gyri). In people with ILS, the cells of the cerebral |
related-gene |
gene-symbol |
ghr-page |
lissencephaly type 1 |
GTR |
C1848199 |
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cortex are disorganized, and the brain surface is abnormally smooth with an |
TUBA1A |
https://ghr.nlm.nih.gov/gene/TUBA1A |
lissencephaly, classic |
db |
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absence (agyria) or reduction (pachygyria) of folds and grooves. In most cases, |
type 1 lissencephaly |
GTR |
C1969029 |
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these abnormalities impair brain growth, causing the brain to be smaller than |
db |
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normal (microcephaly). This underdevelopment of the brain causes severe |
GeneReviews |
chrom17-lis |
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intellectual disability, delayed development, and recurrent seizures (epilepsy) |
db |
key |
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in individuals with ILS. |
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GeneReviews |
dcx |
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html:p |
More than 90 percent of individuals with ILS develop epilepsy, often within the |
db |
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first year of life. Up to 80 percent of infants with ILS have a type of seizure |
GeneReviews |
tubulin-ov |
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called infantile spasms, these seizures can be severe enough to cause brain |
db |
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dysfunction (epileptic encephalopathy). After the first months of life, most |
ICD-10-CM |
Q04.3 |
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children with ILS develop a variety of seizure types, including persisting |
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infantile spasms, short periods of loss of consciousness (absence seizures); |
MeSH |
D054221 |
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sudden episodes of weak muscle tone (drop attacks); rapid, uncontrolled muscle |
db |
key |
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jerks (myoclonic seizures); and episodes of muscle rigidity, convulsions, and |
OMIM |
300067 |
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loss of consciousness (tonic-clonic seizures). |
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db |
key |
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html:p |
Infants with ILS may have poor muscle tone (hypotonia) and difficulty feeding, |
OMIM |
607432 |
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which leads to poor growth overall. Hypotonia also affects the muscles used for |
db |
key |
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breathing, which often causes breathing problems that can lead to a |
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OMIM |
611603 |
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life-threatening bacterial lung infection known as aspiration pneumonia. |
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db |
key |
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Children with ILS often develop muscle stiffness (spasticity) in their arms and |
Orphanet |
48471 |
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legs and an abnormal side-to-side curvature of the spine (scoliosis). Rarely, |
db |
key |
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the muscle stiffness will progress to paralysis (spastic paraplegia). |
|
SNOMED CT |
253147000 |
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Individuals with ILS cannot walk and rarely crawl. Most children with ILS do not |
db |
key |
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develop communication skills. |
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SNOMED CT |
715780008 |
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related-gene-list |
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Isolated Pierre Robin sequence |
https://ghr.nlm.nih.gov/condition/isolated-pierre-robin-sequence |
Isolated Pierre Robin sequence affects an estimated 1 in 8,500 to 14,000 |
html:p |
Pierre Robin sequence is a set of abnormalities affecting the head and face, |
ad |
autosomal dominant |
SOX9 |
https://ghr.nlm.nih.gov/gene/SOX9 |
glossoptosis, micrognathia, and cleft palate |
db |
key |
2016-12 |
2017-12-29 |
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單純皮爾羅賓氏症 |
people. |
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consisting of a small lower jaw (micrognathia), a tongue that is placed further |
Pierre Robin syndrome |
GTR |
C0031900 |
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back than normal (glossoptosis), and blockage (obstruction) of the airways. Most |
Pierre-Robin syndrome |
db |
key |
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people with Pierre Robin sequence are also born with an opening in the roof of |
Robin sequence |
MeSH |
D010855 |
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the mouth (a cleft palate). This feature is not generally considered necessary |
Robin syndrome |
db |
key |
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for diagnosis of the condition, although there is some disagreement among |
OMIM |
261800 |
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doctors. |
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db |
key |
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html:p |
Some people have the features of Pierre Robin sequence as part of a syndrome |
Orphanet |
718 |
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that affects other organs and tissues in the body, such as Stickler syndrome or |
db |
key |
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campomelic dysplasia. These instances are described as syndromic. When Pierre |
SNOMED CT |
4602007 |
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Robin sequence occurs by itself, it is described as nonsyndromic or isolated. |
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Approximately 20 to 40 percent of cases of Pierre Robin sequence are isolated. |
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html:p |
This condition is described as a "sequence" because one of its features, |
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underdevelopment of the lower jaw (mandible), sets off a sequence of events |
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before birth that cause the other signs and symptoms. Specifically, having an |
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abnormally small jaw affects placement of the tongue, and the abnormally |
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positioned tongue can block the airways. In addition, micrognathia and |
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glossoptosis affect formation of the palate during development before birth, |
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which often leads to cleft palate. |
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The combination of features characteristic of Pierre Robin sequence can lead to |
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difficulty breathing and problems eating early in life. As a result, some |
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affected babies have an inability to grow and gain weight at the expected rate |
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(failure to thrive). In some children with Pierre Robin sequence, growth of the |
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mandible catches up, and as adults these individuals have normal-sized chins. |
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related-gene-list |
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Isovaleric acidemia, IVA |
https://ghr.nlm.nih.gov/condition/isovaleric-acidemia |
Isovaleric acidemia is estimated to affect at least 1 in 250,000 people in |
html:p |
Isovaleric acidemia is a rare disorder in which the body is unable to process |
ar |
autosomal recessive |
IVD |
https://ghr.nlm.nih.gov/gene/IVD |
Isovaleric acid-CoA dehydrogenase deficiency |
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2007-04 |
2017-12-29 |
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異戊酸血症 |
the United States. |
certain proteins properly. It is classified as an organic acid disorder, which |
Isovaleryl-CoA dehydrogenase deficiency |
GTR |
C0268575 |
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is a condition that leads to an abnormal buildup of particular acids known as |
IVA |
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organic acids. Abnormal levels of organic acids in the blood (organic acidemia), |
IVD deficiency |
ICD-10-CM |
E71.110 |
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urine (organic aciduria), and tissues can be toxic and can cause serious health |
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problems. |
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MeSH |
D000592 |
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html:p |
Normally, the body breaks down proteins from food into smaller parts called |
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amino acids. Amino acids can be further processed to provide energy for growth |
OMIM |
243500 |
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and development. People with isovaleric acidemia have inadequate levels of an |
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enzyme that helps break down a particular amino acid called leucine. |
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Orphanet |
33 |
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html:p |
Health problems related to isovaleric acidemia range from very mild to |
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life-threatening. In severe cases, the features of isovaleric acidemia become |
SNOMED CT |
87827003 |
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apparent within a few days after birth. The initial symptoms include poor |
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feeding, vomiting, seizures, and lack of energy (lethargy). These symptoms |
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sometimes progress to more serious medical problems, including seizures, coma, |
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and possibly death. A characteristic sign of isovaleric acidemia is a |
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distinctive odor of sweaty feet during acute illness. This odor is caused by the |
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buildup of a compound called isovaleric acid in affected individuals. |
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html:p |
In other cases, the signs and symptoms of isovaleric acidemia appear during |
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childhood and may come and go over time. Children with this condition may fail |
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to gain weight and grow at the expected rate (failure to thrive) and often have |
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delayed development. In these children, episodes of more serious health |
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problems can be triggered by prolonged periods without food (fasting), |
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infections, or eating an increased amount of protein-rich foods. |
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html:p |
Some people with gene mutations that cause isovaleric acidemia are asymptomatic, |
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which means they never experience any signs or symptoms of the condition. |
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related-gene-list |
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Jackson-Weiss syndrome |
https://ghr.nlm.nih.gov/condition/jackson-weiss-syndrome |
Jackson-Weiss syndrome is a rare genetic disorder; its incidence is |
html:p |
Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities |
ad |
autosomal dominant |
FGFR2 |
https://ghr.nlm.nih.gov/gene/FGFR2 |
JWS |
db |
key |
2017-01 |
2017-12-29 |
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unknown. |
and the premature fusion of certain skull bones (craniosynostosis). This early |
GTR |
C0795998 |
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fusion prevents the skull from growing normally and affects the shape of the |
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head and face. |
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GeneReviews |
craniosynostosis |
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html:p |
Many of the characteristic facial features of Jackson-Weiss syndrome result from |
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premature fusion of the skull bones. Abnormal growth of these bones leads to a |
MeSH |
D003398 |
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misshapen skull, widely spaced eyes, and a bulging forehead. |
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html:p |
Foot abnormalities are the most consistent features of Jackson-Weiss syndrome. |
OMIM |
123150 |
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The first (big) toes are short and wide, and they bend away from the other toes. |
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Additionally, the bones of some toes may be fused together (syndactyly) or |
Orphanet |
1531 |
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abnormally shaped. The hands are almost always normal. |
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html:p |
Some individuals with Jackson-Weiss syndrome have hearing impairment. People |
Orphanet |
1540 |
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with Jackson-Weiss syndrome usually have normal intelligence and a normal life |
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span. |
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SNOMED CT |
709105005 |
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related-gene-list |
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Jacobsen syndrome |
https://ghr.nlm.nih.gov/condition/jacobsen-syndrome |
The estimated incidence of Jacobsen syndrome is 1 in 100,000 newborns. More |
html:p |
Jacobsen syndrome is a condition caused by a loss of genetic material from |
n |
not inherited |
ARHGAP32 |
https://ghr.nlm.nih.gov/gene/ARHGAP32 |
11q deletion disorder |
db |
key |
2015-09 |
2017-12-29 |
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雅各森症候群 |
than 200 affected individuals have been reported. |
chromosome 11. Because this deletion occurs at the end (terminus) of the long |
related-gene |
gene-symbol |
ghr-page |
11q deletion syndrome |
GTR |
C0795841 |
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(q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal |
ETS1 |
https://ghr.nlm.nih.gov/gene/ETS1 |
11q- deletion syndrome |
db |
key |
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deletion disorder. |
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related-gene |
gene-symbol |
ghr-page |
11q terminal deletion disorder |
MeSH |
D054868 |
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html:p |
The signs and symptoms of Jacobsen syndrome vary considerably. Most affected |
FLI1 |
https://ghr.nlm.nih.gov/gene/FLI1 |
11q23 deletion disorder |
db |
key |
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individuals have delayed development, including the development of speech and |
related-chromosome |
name |
ghr-page |
Jacobsen thrombocytopenia |
OMIM |
147791 |
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motor skills (such as sitting, standing, and walking). Most also have cognitive |
11 |
https://ghr.nlm.nih.gov/chromosome/11 |
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impairment and learning difficulties. Behavioral problems have been reported, |
Orphanet |
851 |
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including compulsive behavior (such as shredding paper), a short attention span, |
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and easy distractibility. Many people with Jacobsen syndrome have been |
Orphanet |
2308 |
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diagnosed with attention deficit-hyperactivity disorder (ADHD). Jacobsen |
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syndrome is also associated with an increased likelihood of autism spectrum |
SNOMED CT |
4325000 |
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disorders, which are characterized by impaired communication and socialization |
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skills. |
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html:p |
Jacobsen syndrome is also characterized by distinctive facial features. These |
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include small and low-set ears, widely set eyes (hypertelorism) with droopy |
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eyelids (ptosis), skin folds covering the inner corner of the eyes (epicanthal |
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folds), a broad nasal bridge, downturned corners of the mouth, a thin upper lip, |
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and a small lower jaw. Affected individuals often have a large head size |
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(macrocephaly) and a skull abnormality called trigonocephaly, which gives the |
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forehead a pointed appearance. |
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html:p |
More than 90 percent of people with Jacobsen syndrome have a bleeding disorder |
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called Paris-Trousseau syndrome. This condition causes a lifelong risk of |
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abnormal bleeding and easy bruising. Paris-Trousseau syndrome is a disorder of |
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platelets, which are blood cell fragments that are necessary for blood clotting. |
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html:p |
Other features of Jacobsen syndrome can include heart defects, feeding |
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difficulties in infancy, short stature, frequent ear and sinus infections, and |
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skeletal abnormalities. The disorder can also affect the digestive system, |
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kidneys, and genitalia. The life expectancy of people with Jacobsen syndrome is |
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unknown, although affected individuals have lived into adulthood. |
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inheritance-pattern-list |
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JAK3-deficient severe combined immunodeficiency |
https://ghr.nlm.nih.gov/condition/jak3-deficient-severe-combined-immunodeficienc |
JAK3-deficient SCID accounts for an estimated 7 to 14 percent of cases of |
html:p |
html:i |
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ar |
related-gene |
ghr-page |
synonym |
autosomal recessive T-B+NK- SCID |
db-key |
db |
key |
2017-08 |
2017-12-29 |
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y |
SCID. The prevalence of SCID from all genetic causes combined is approximately 1 |
JAK3 |
-deficient SCID lack the necessary immune cells to fight off certain bacteria, |
https://ghr.nlm.nih.gov/gene/JAK3 |
synonym |
autosomal recessive T cell-negative, B cell-positive, NK cell-negative severe |
GTR |
C1833275 |
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in 50,000, although it may be higher in certain regions. |
viruses, and fungi. They are prone to repeated and persistent infections that |
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combined immunodeficiency |
db-key |
db |
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can be very serious or life-threatening. Often the organisms that cause |
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synonym |
JAK3 SCID |
MeSH |
D016511 |
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html:i |
-deficient SCID are described as opportunistic because they ordinarily do not |
synonym |
T-B+ severe combined immunodeficiency due to JAK3 deficiency |
db-key |
db |
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JAK3 |
cause illness in healthy people. Affected infants typically develop chronic |
synonym |
T cell-negative, B cell-positive, NK cell-negative SCID |
OMIM |
600802 |
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diarrhea, a fungal infection in the mouth called oral thrush, pneumonia, and |
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db-key |
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skin rashes. Persistent illness also causes affected individuals to grow more |
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Orphanet |
35078 |
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html:i |
-deficient SCID usually live only into early childhood. |
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db-key |
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JAK3 |
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SNOMED CT |
718107000 |
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related-gene-list |
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Jervell and Lange-Nielsen syndrome |
https://ghr.nlm.nih.gov/condition/jervell-and-lange-nielsen-syndrome |
Jervell and Lange-Nielsen syndrome is uncommon; it affects an estimated 1.6 |
html:p |
Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing |
ar |
autosomal recessive |
KCNE1 |
https://ghr.nlm.nih.gov/gene/KCNE1 |
autosomal recessive long QT syndrome (LQTS) |
db |
key |
2017-09 |
2017-12-29 |
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to 6 per 1 million people worldwide. This condition has a higher prevalence in |
loss from birth and a disruption of the heart's normal rhythm (arrhythmia). |
related-gene |
gene-symbol |
ghr-page |
cardio-auditory-syncope syndrome |
GTR |
C0022387 |
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Denmark, Sweden, and Norway, where it affects at least 1 in 200,000 people. |
This disorder is a form of long QT syndrome, which is a heart condition that |
KCNQ1 |
https://ghr.nlm.nih.gov/gene/KCNQ1 |
cardioauditory syndrome of Jervell and Lange-Nielsen |
db |
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causes the heart (cardiac) muscle to take longer than usual to recharge between |
deafness, congenital, and functional heart disease |
GTR |
C2676723 |
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beats. Beginning in early childhood, the irregular heartbeats increase the risk |
Jervell-Lange Nielsen syndrome |
db |
key |
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of fainting (syncope) and sudden death. |
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JLNS |
GTR |
CN034131 |
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prolonged QT interval in EKG and sudden death |
db |
key |
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surdo-cardiac syndrome |
GeneReviews |
jln |
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db |
key |
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ICD-10-CM |
I45.81 |
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db |
key |
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MeSH |
D029593 |
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db |
key |
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OMIM |
220400 |
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db |
key |
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OMIM |
612347 |
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db |
key |
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Orphanet |
768 |
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db |
key |
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Orphanet |
90647 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
373905003 |
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Joubert syndrome |
https://ghr.nlm.nih.gov/condition/joubert-syndrome |
Joubert syndrome is estimated to affect between 1 in 80,000 and 1 in |
html:p |
Joubert syndrome is a disorder that affects many parts of the body. The signs |
ar |
autosomal recessive |
AHI1 |
https://ghr.nlm.nih.gov/gene/AHI1 |
agenesis of cerebellar vermis |
db |
key |
2017-07 |
2017-12-29 |
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Joubert氏综合征 |
100,000 newborns. However, this estimate may be too low because Joubert syndrome |
and symptoms of this condition vary among affected individuals, even among |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
cerebello-oculo-renal syndrome |
GTR |
C0431399 |
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has such a large range of possible features and is likely underdiagnosed. |
members of the same family. |
xr |
X-linked recessive |
ARL13B |
https://ghr.nlm.nih.gov/gene/ARL13B |
cerebellooculorenal syndrome 1 |
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Particular genetic mutations that cause this condition are more common in |
html:p |
The hallmark feature of Joubert syndrome is a combination of brain abnormalities |
related-gene |
gene-symbol |
ghr-page |
CORS |
GeneReviews |
joubert |
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certain ethnic groups, such as Ashkenazi Jewish, French-Canadian, and Hutterite |
that together are known as the molar tooth sign, which can be seen on brain |
B9D1 |
https://ghr.nlm.nih.gov/gene/B9D1 |
familial aplasia of the vermis |
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populations. |
imaging studies such as magnetic resonance imaging (MRI). This sign results from |
related-gene |
gene-symbol |
ghr-page |
JBTS |
MeSH |
D000015 |
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the abnormal development of structures near the back of the brain, including |
B9D2 |
https://ghr.nlm.nih.gov/gene/B9D2 |
Joubert-Bolthauser syndrome |
db |
key |
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the cerebellar vermis and the brainstem. The molar tooth sign got its name |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
213300 |
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because the characteristic brain abnormalities resemble the cross-section of a |
C2CD3 |
https://ghr.nlm.nih.gov/gene/C2CD3 |
db |
key |
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molar tooth when seen on an MRI. |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
300804 |
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html:p |
Most infants with Joubert syndrome have low muscle tone (hypotonia) in infancy, |
C5orf42 |
https://ghr.nlm.nih.gov/gene/C5orf42 |
db |
key |
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which contributes to difficulty coordinating movements (ataxia) in early |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
608091 |
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childhood. Other characteristic features of the condition include episodes of |
CC2D2A |
https://ghr.nlm.nih.gov/gene/CC2D2A |
db |
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unusually fast (hyperpnea) or slow (apnea) breathing in infancy, and abnormal |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
608629 |
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eye movements (ocular motor apraxia). Most affected individuals have delayed |
CEP41 |
https://ghr.nlm.nih.gov/gene/CEP41 |
db |
key |
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development and intellectual disability, which can range from mild to severe. |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
609583 |
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Distinctive facial features can also occur in Joubert syndrome; these include a |
CEP104 |
https://ghr.nlm.nih.gov/gene/CEP104 |
db |
key |
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broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
610188 |
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(hypertelorism), low-set ears, and a triangle-shaped mouth. |
CEP120 |
https://ghr.nlm.nih.gov/gene/CEP120 |
db |
key |
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html:p |
Joubert syndrome can include a broad range of additional signs and symptoms. The |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
610688 |
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condition is sometimes associated with other eye abnormalities (such as retinal |
CEP290 |
https://ghr.nlm.nih.gov/gene/CEP290 |
db |
key |
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dystrophy, which can cause vision loss, and coloboma, which is a gap or split |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
611560 |
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in a structure of the eye), kidney disease (including polycystic kidney disease |
CSPP1 |
https://ghr.nlm.nih.gov/gene/CSPP1 |
db |
key |
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and nephronophthisis), liver disease, skeletal abnormalities (such as the |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
612285 |
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presence of extra fingers and toes), or hormone (endocrine) problems. A |
IFT172 |
https://ghr.nlm.nih.gov/gene/IFT172 |
db |
key |
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combination of the characteristic features of Joubert syndrome and one or more |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
612291 |
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of these additional signs and symptoms once characterized several separate |
INPP5E |
https://ghr.nlm.nih.gov/gene/INPP5E |
db |
key |
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disorders. Together, those disorders were referred to as Joubert syndrome and |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
614173 |
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related disorders (JSRD). Now, however, any instances that involve the molar |
KIAA0556 |
https://ghr.nlm.nih.gov/gene/KIAA0556 |
db |
key |
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tooth sign, including those with these additional signs and symptoms, are |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
614424 |
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usually considered Joubert syndrome. |
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KIAA0586 |
https://ghr.nlm.nih.gov/gene/KIAA0586 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
614464 |
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KIF7 |
https://ghr.nlm.nih.gov/gene/KIF7 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
614465 |
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MKS1 |
https://ghr.nlm.nih.gov/gene/MKS1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
614615 |
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NPHP1 |
https://ghr.nlm.nih.gov/gene/NPHP1 |
db |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
614815 |
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OFD1 |
https://ghr.nlm.nih.gov/gene/OFD1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
614844 |
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PDE6D |
https://ghr.nlm.nih.gov/gene/PDE6D |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
614970 |
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POC1B |
https://ghr.nlm.nih.gov/gene/POC1B |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
615636 |
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RPGRIP1L |
https://ghr.nlm.nih.gov/gene/RPGRIP1L |
db |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
615665 |
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TCTN1 |
https://ghr.nlm.nih.gov/gene/TCTN1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
616490 |
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TCTN2 |
https://ghr.nlm.nih.gov/gene/TCTN2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
616654 |
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TCTN3 |
https://ghr.nlm.nih.gov/gene/TCTN3 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
616781 |
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TMEM67 |
https://ghr.nlm.nih.gov/gene/TMEM67 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
616784 |
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TMEM107 |
https://ghr.nlm.nih.gov/gene/TMEM107 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
617120 |
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TMEM138 |
https://ghr.nlm.nih.gov/gene/TMEM138 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
617121 |
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TMEM216 |
https://ghr.nlm.nih.gov/gene/TMEM216 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
Orphanet |
475 |
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TMEM231 |
https://ghr.nlm.nih.gov/gene/TMEM231 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
SNOMED CT |
253175003 |
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TMEM237 |
https://ghr.nlm.nih.gov/gene/TMEM237 |
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related-gene |
gene-symbol |
ghr-page |
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TTC21B |
https://ghr.nlm.nih.gov/gene/TTC21B |
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related-gene |
gene-symbol |
ghr-page |
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ZNF423 |
https://ghr.nlm.nih.gov/gene/ZNF423 |
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related-gene-list |
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Junctional epidermolysis bullosa |
https://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa |
Both types of junctional epidermolysis bullosa are rare, affecting fewer |
html:p |
Junctional epidermolysis bullosa (JEB) is one of the major forms of |
ar |
autosomal recessive |
COL17A1 |
https://ghr.nlm.nih.gov/gene/COL17A1 |
Epidermolysis Bullosa, Junctional |
db |
key |
2009-09 |
2017-12-29 |
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than 1 per million people in the United States. |
epidermolysis bullosa, a group of genetic conditions that cause the skin to be |
related-gene |
gene-symbol |
ghr-page |
JEB |
GTR |
C0079301 |
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very fragile and to blister easily. Blisters and skin erosions form in response |
LAMA3 |
https://ghr.nlm.nih.gov/gene/LAMA3 |
db |
key |
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to minor injury or friction, such as rubbing or scratching. Researchers classify |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0079683 |
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junctional epidermolysis bullosa into two main types: Herlitz JEB and |
LAMB3 |
https://ghr.nlm.nih.gov/gene/LAMB3 |
db |
key |
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non-Herlitz JEB. Although the types differ in severity, their features overlap |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0268374 |
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significantly, and they can be caused by mutations in the same genes. |
LAMC2 |
https://ghr.nlm.nih.gov/gene/LAMC2 |
db |
key |
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html:p |
Herlitz JEB is the more severe form of the condition. From birth or early |
|
GeneReviews |
ebj |
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infancy, affected individuals have blistering over large regions of the body. |
db |
key |
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Blistering also affects the mucous membranes, such as the moist lining of the |
ICD-10-CM |
Q81.8 |
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mouth and digestive tract, which can make it difficult to eat and digest food. |
db |
key |
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As a result, many affected children have chronic malnutrition and slow growth. |
MeSH |
D016109 |
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The extensive blistering leads to scarring and the formation of red, bumpy |
db |
key |
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patches called granulation tissue. Granulation tissue bleeds easily and |
|
OMIM |
226650 |
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profusely, making affected infants susceptible to serious infections and loss of |
db |
key |
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necessary proteins, minerals, and fluids. Additionally, a buildup of |
|
OMIM |
226700 |
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granulation tissue in the airway can lead to a weak, hoarse cry and difficulty |
db |
key |
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breathing. |
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Orphanet |
305 |
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html:p |
Other complications of Herlitz JEB can include fusion of the fingers and toes, |
db |
key |
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abnormalities of the fingernails and toenails, joint deformities (contractures) |
SNOMED CT |
33662006 |
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that restrict movement, and hair loss (alopecia). Because the signs and symptoms |
db |
key |
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of Herlitz JEB are so severe, infants with this condition usually do not |
SNOMED CT |
399971009 |
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survive beyond the first year of life. |
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db |
key |
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html:p |
The milder form of junctional epidermolysis bullosa is called non-Herlitz JEB. |
SNOMED CT |
400140006 |
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The blistering associated with non-Herlitz JEB may be limited to the hands, |
db |
key |
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feet, knees, and elbows, and it often improves after the newborn period. Other |
SNOMED CT |
79855003 |
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characteristic features of this condition include alopecia, malformed |
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fingernails and toenails, and irregular tooth enamel. Most affected individuals |
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do not have extensive scarring or granulation tissue formation, so breathing |
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difficulties and other severe complications are rare. Non-Herlitz JEB is |
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typically associated with a normal lifespan. |
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related-gene-list |
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Juvenile hyaline fibromatosis |
https://ghr.nlm.nih.gov/condition/juvenile-hyaline-fibromatosis |
The prevalence of juvenile hyaline fibromatosis is unknown. About 70 people |
html:p |
Juvenile hyaline fibromatosis is a disorder that affects the skin, joints, and |
ar |
autosomal recessive |
ANTXR2 |
https://ghr.nlm.nih.gov/gene/ANTXR2 |
inherited systemic hyalinosis |
db |
key |
2008-12 |
2017-12-29 |
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with this disorder have been reported. |
bones. Individuals with this condition typically begin to develop signs and |
juvenile hyalinosis |
GTR |
C2745948 |
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symptoms within the first few years of life. Juvenile hyaline fibromatosis is |
molluscum fibrosum |
db |
key |
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characterized by skin bumps that frequently appear on the hands, neck, scalp, |
Murray syndrome |
GeneReviews |
sys-h |
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ears, and nose. These skin bumps can also develop in joint creases and the |
Puretic syndrome |
db |
key |
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genital region. They vary in size and are sometimes painful. Affected |
Systemic hyalinosis |
MeSH |
D057770 |
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individuals usually develop more skin bumps over time. |
|
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db |
key |
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html:p |
Juvenile hyaline fibromatosis is also characterized by overgrowth of the gums |
OMIM |
228600 |
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(gingival hypertrophy) and joint deformities (contractures) that can impair |
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movement. In addition, affected individuals may grow slowly and have bone |
Orphanet |
2028 |
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abnormalities. People with juvenile hyaline fibromatosis typically have severe |
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physical limitations, but most individuals have normal intelligence and live |
SNOMED CT |
238861002 |
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into adulthood. |
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related-gene-list |
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Juvenile idiopathic arthritis |
https://ghr.nlm.nih.gov/condition/juvenile-idiopathic-arthritis |
The incidence of juvenile idiopathic arthritis in North America and Europe |
html:p |
Juvenile idiopathic arthritis refers to a group of conditions involving joint |
u |
pattern unknown |
HLA-A |
https://ghr.nlm.nih.gov/gene/HLA-A |
arthritis, juvenile rheumatoid |
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2015-02 |
2017-12-29 |
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幼年特發性關節炎 |
is estimated to be 4 to 16 in 10,000 children. One in 1,000, or approximately |
inflammation (arthritis) that first appears before the age of 16. This condition |
related-gene |
gene-symbol |
ghr-page |
JIA |
GTR |
C1858558 |
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294,000, children in the United States are affected. The most common type of |
is an autoimmune disorder, which means that the immune system malfunctions and |
HLA-B |
https://ghr.nlm.nih.gov/gene/HLA-B |
JRA |
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juvenile idiopathic arthritis in the United States is oligoarticular juvenile |
attacks the body's organs and tissues, in this case the joints. |
related-gene |
gene-symbol |
ghr-page |
juvenile chronic arthritis |
ICD-10-CM |
M08 |
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idiopathic arthritis, which accounts for about half of all cases. For reasons |
html:p |
Researchers have described seven types of juvenile idiopathic arthritis. The |
HLA-DPB1 |
https://ghr.nlm.nih.gov/gene/HLA-DPB1 |
juvenile RA |
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that are unclear, females seem to be affected with juvenile idiopathic arthritis |
types are distinguished by their signs and symptoms, the number of joints |
related-gene |
gene-symbol |
ghr-page |
juvenile rheumatoid arthritis |
ICD-10-CM |
M08.0 |
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somewhat more frequently than males. However, in enthesitis-related juvenile |
affected, the results of laboratory tests, and the family history. |
HLA-DQA1 |
https://ghr.nlm.nih.gov/gene/HLA-DQA1 |
systemic juvenile rheumatoid arthritis |
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idiopathic arthritis males are affected more often than females. The incidence |
html:p |
Systemic juvenile idiopathic arthritis causes inflammation in one or more |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M08.00 |
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of juvenile idiopathic arthritis varies across different populations and ethnic |
joints. A high daily fever that lasts at least 2 weeks either precedes or |
HLA-DQB1 |
https://ghr.nlm.nih.gov/gene/HLA-DQB1 |
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groups. |
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accompanies the arthritis. Individuals with systemic arthritis may also have a |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M08.01 |
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skin rash or enlargement of the lymph nodes (lymphadenopathy), liver |
HLA-DRB1 |
https://ghr.nlm.nih.gov/gene/HLA-DRB1 |
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(hepatomegaly), or spleen (splenomegaly). |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M08.02 |
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html:p |
Oligoarticular juvenile idiopathic arthritis (also known as oligoarthritis) has |
IL2RA |
https://ghr.nlm.nih.gov/gene/IL2RA |
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no features other than joint inflammation. Oligoarthritis is marked by the |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M08.2 |
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occurrence of arthritis in four or fewer joints in the first 6 months of the |
IL6 |
https://ghr.nlm.nih.gov/gene/IL6 |
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disease. It is divided into two subtypes depending on the course of disease. If |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M08.03 |
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the arthritis is confined to four or fewer joints after 6 months, then the |
MIF |
https://ghr.nlm.nih.gov/gene/MIF |
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condition is classified as persistent oligoarthritis. If more than four joints |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M08.3 |
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are affected after 6 months, this condition is classified as extended |
PTPN22 |
https://ghr.nlm.nih.gov/gene/PTPN22 |
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oligoarthritis. |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M08.04 |
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html:p |
Rheumatoid factor positive polyarticular juvenile idiopathic arthritis (also |
SLC11A1 |
https://ghr.nlm.nih.gov/gene/SLC11A1 |
db |
key |
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known as polyarthritis, rheumatoid factor positive) causes inflammation in five |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M08.4 |
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or more joints within the first 6 months of the disease. Individuals with this |
STAT4 |
https://ghr.nlm.nih.gov/gene/STAT4 |
db |
key |
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condition also have a positive blood test for proteins called rheumatoid |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M08.05 |
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factors. This type of arthritis closely resembles rheumatoid arthritis as seen |
TNF |
https://ghr.nlm.nih.gov/gene/TNF |
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in adults. |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M08.06 |
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html:p |
Rheumatoid factor negative polyarticular juvenile idiopathic arthritis (also |
TNFAIP3 |
https://ghr.nlm.nih.gov/gene/TNFAIP3 |
db |
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known as polyarthritis, rheumatoid factor negative) is also characterized by |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M08.07 |
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arthritis in five or more joints within the first 6 months of the disease. |
TRAF1 |
https://ghr.nlm.nih.gov/gene/TRAF1 |
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Individuals with this type, however, test negative for rheumatoid factor in the |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M08.08 |
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blood. |
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WISP3 |
https://ghr.nlm.nih.gov/gene/WISP3 |
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html:p |
Psoriatic juvenile idiopathic arthritis involves arthritis that usually occurs |
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ICD-10-CM |
M08.8 |
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in combination with a skin disorder called psoriasis. Psoriasis is a condition |
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characterized by patches of red, irritated skin that are often covered by flaky |
ICD-10-CM |
M08.09 |
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white scales. Some affected individuals develop psoriasis before arthritis while |
db |
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others first develop arthritis. Other features of psoriatic arthritis include |
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ICD-10-CM |
M08.9 |
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abnormalities of the fingers and nails or eye problems. |
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html:p |
Enthesitis-related juvenile idiopathic arthritis is characterized by tenderness |
ICD-10-CM |
M08.011 |
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where the bone meets a tendon, ligament or other connective tissue. This |
db |
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tenderness, known as enthesitis, accompanies the joint inflammation of |
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ICD-10-CM |
M08.012 |
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arthritis. Enthesitis-related arthritis may also involve inflammation in parts |
db |
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of the body other than the joints. |
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ICD-10-CM |
M08.019 |
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html:p |
The last type of juvenile idiopathic arthritis is called undifferentiated |
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arthritis. This classification is given to affected individuals who do not fit |
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ICD-10-CM |
M08.20 |
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into any of the above types or who fulfill the criteria for more than one type |
db |
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of juvenile idiopathic arthritis. |
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ICD-10-CM |
M08.021 |
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db |
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ICD-10-CM |
M08.21 |
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ICD-10-CM |
M08.022 |
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ICD-10-CM |
M08.22 |
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ICD-10-CM |
M08.23 |
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ICD-10-CM |
M08.24 |
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ICD-10-CM |
M08.25 |
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ICD-10-CM |
M08.26 |
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ICD-10-CM |
M08.27 |
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ICD-10-CM |
M08.28 |
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ICD-10-CM |
M08.029 |
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ICD-10-CM |
M08.29 |
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ICD-10-CM |
M08.031 |
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ICD-10-CM |
M08.032 |
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ICD-10-CM |
M08.039 |
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ICD-10-CM |
M08.40 |
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ICD-10-CM |
M08.041 |
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ICD-10-CM |
M08.41 |
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ICD-10-CM |
M08.042 |
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ICD-10-CM |
M08.42 |
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ICD-10-CM |
M08.43 |
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ICD-10-CM |
M08.44 |
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ICD-10-CM |
M08.45 |
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ICD-10-CM |
M08.46 |
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ICD-10-CM |
M08.47 |
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ICD-10-CM |
M08.48 |
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ICD-10-CM |
M08.049 |
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ICD-10-CM |
M08.051 |
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db |
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ICD-10-CM |
M08.052 |
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db |
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ICD-10-CM |
M08.059 |
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db |
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ICD-10-CM |
M08.061 |
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db |
key |
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ICD-10-CM |
M08.062 |
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ICD-10-CM |
M08.069 |
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ICD-10-CM |
M08.071 |
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ICD-10-CM |
M08.072 |
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ICD-10-CM |
M08.079 |
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ICD-10-CM |
M08.80 |
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ICD-10-CM |
M08.81 |
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ICD-10-CM |
M08.82 |
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ICD-10-CM |
M08.83 |
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ICD-10-CM |
M08.84 |
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ICD-10-CM |
M08.85 |
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ICD-10-CM |
M08.86 |
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ICD-10-CM |
M08.87 |
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ICD-10-CM |
M08.88 |
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ICD-10-CM |
M08.89 |
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ICD-10-CM |
M08.90 |
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ICD-10-CM |
M08.91 |
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ICD-10-CM |
M08.92 |
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ICD-10-CM |
M08.93 |
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ICD-10-CM |
M08.94 |
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ICD-10-CM |
M08.95 |
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ICD-10-CM |
M08.96 |
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ICD-10-CM |
M08.97 |
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ICD-10-CM |
M08.98 |
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ICD-10-CM |
M08.99 |
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db |
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ICD-10-CM |
M08.211 |
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db |
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ICD-10-CM |
M08.212 |
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db |
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ICD-10-CM |
M08.219 |
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db |
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ICD-10-CM |
M08.221 |
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ICD-10-CM |
M08.222 |
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ICD-10-CM |
M08.229 |
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ICD-10-CM |
M08.231 |
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ICD-10-CM |
M08.232 |
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ICD-10-CM |
M08.239 |
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ICD-10-CM |
M08.241 |
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ICD-10-CM |
M08.242 |
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ICD-10-CM |
M08.249 |
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ICD-10-CM |
M08.251 |
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ICD-10-CM |
M08.252 |
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ICD-10-CM |
M08.259 |
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ICD-10-CM |
M08.261 |
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ICD-10-CM |
M08.262 |
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ICD-10-CM |
M08.269 |
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ICD-10-CM |
M08.271 |
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ICD-10-CM |
M08.272 |
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ICD-10-CM |
M08.279 |
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ICD-10-CM |
M08.411 |
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ICD-10-CM |
M08.412 |
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ICD-10-CM |
M08.419 |
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ICD-10-CM |
M08.421 |
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ICD-10-CM |
M08.422 |
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ICD-10-CM |
M08.429 |
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ICD-10-CM |
M08.431 |
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ICD-10-CM |
M08.432 |
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ICD-10-CM |
M08.439 |
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ICD-10-CM |
M08.441 |
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ICD-10-CM |
M08.442 |
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ICD-10-CM |
M08.449 |
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ICD-10-CM |
M08.451 |
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ICD-10-CM |
M08.452 |
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ICD-10-CM |
M08.459 |
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ICD-10-CM |
M08.461 |
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ICD-10-CM |
M08.462 |
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ICD-10-CM |
M08.469 |
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ICD-10-CM |
M08.471 |
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ICD-10-CM |
M08.472 |
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ICD-10-CM |
M08.479 |
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ICD-10-CM |
M08.811 |
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ICD-10-CM |
M08.812 |
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ICD-10-CM |
M08.819 |
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ICD-10-CM |
M08.821 |
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ICD-10-CM |
M08.822 |
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ICD-10-CM |
M08.829 |
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ICD-10-CM |
M08.831 |
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ICD-10-CM |
M08.832 |
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ICD-10-CM |
M08.839 |
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ICD-10-CM |
M08.841 |
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ICD-10-CM |
M08.842 |
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ICD-10-CM |
M08.849 |
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ICD-10-CM |
M08.851 |
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ICD-10-CM |
M08.852 |
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ICD-10-CM |
M08.859 |
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ICD-10-CM |
M08.861 |
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ICD-10-CM |
M08.862 |
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ICD-10-CM |
M08.869 |
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ICD-10-CM |
M08.871 |
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ICD-10-CM |
M08.872 |
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ICD-10-CM |
M08.879 |
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ICD-10-CM |
M08.911 |
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ICD-10-CM |
M08.912 |
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ICD-10-CM |
M08.919 |
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ICD-10-CM |
M08.921 |
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ICD-10-CM |
M08.922 |
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ICD-10-CM |
M08.929 |
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ICD-10-CM |
M08.931 |
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ICD-10-CM |
M08.932 |
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ICD-10-CM |
M08.939 |
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ICD-10-CM |
M08.941 |
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ICD-10-CM |
M08.942 |
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ICD-10-CM |
M08.949 |
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ICD-10-CM |
M08.951 |
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ICD-10-CM |
M08.952 |
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ICD-10-CM |
M08.959 |
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ICD-10-CM |
M08.961 |
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ICD-10-CM |
M08.962 |
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ICD-10-CM |
M08.969 |
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ICD-10-CM |
M08.971 |
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db |
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ICD-10-CM |
M08.972 |
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db |
key |
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ICD-10-CM |
M08.979 |
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key |
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MeSH |
D001171 |
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db |
key |
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OMIM |
604302 |
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db |
key |
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Orphanet |
92 |
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db |
key |
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SNOMED CT |
201796004 |
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db |
key |
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SNOMED CT |
239796000 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
410502007 |
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Juvenile myoclonic epilepsy |
https://ghr.nlm.nih.gov/condition/juvenile-myoclonic-epilepsy |
Juvenile myoclonic epilepsy affects an estimated 1 in 1,000 people |
html:p |
Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures |
ad |
autosomal dominant |
CACNB4 |
https://ghr.nlm.nih.gov/gene/CACNB4 |
adolescent myoclonic epilepsy |
db |
key |
2015-09 |
2017-12-29 |
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青少年肌阵挛性癫痫 |
worldwide. Approximately 5 percent of people with epilepsy have juvenile |
(epilepsy). This condition begins in childhood or adolescence, usually between |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Janz syndrome |
GTR |
C0393697 |
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myoclonic epilepsy. |
ages 12 and 18, and lasts into adulthood. The most common type of seizure in |
ar |
autosomal recessive |
CLCN2 |
https://ghr.nlm.nih.gov/gene/CLCN2 |
petit mal, impulsive |
db |
key |
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people with this condition is myoclonic seizures, which cause rapid, |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1850778 |
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uncontrolled muscle jerks. People with this condition may also have generalized |
EFHC1 |
https://ghr.nlm.nih.gov/gene/EFHC1 |
db |
key |
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tonic-clonic seizures (also known as grand mal seizures), which cause muscle |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2749942 |
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rigidity, convulsions, and loss of consciousness. Sometimes, affected |
GABRA1 |
https://ghr.nlm.nih.gov/gene/GABRA1 |
db |
key |
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individuals have absence seizures, which cause loss of consciousness for a short |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2750887 |
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period that appears as a staring spell. Typically, people with juvenile |
GABRD |
https://ghr.nlm.nih.gov/gene/GABRD |
db |
key |
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myoclonic epilepsy develop the characteristic myoclonic seizures in adolescence, |
GTR |
C2751603 |
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then develop generalized tonic-clonic seizures a few years later. Although |
db |
key |
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seizures can happen at any time, they occur most commonly in the morning, |
GTR |
C3280332 |
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shortly after awakening. Seizures can be triggered by a lack of sleep, extreme |
db |
key |
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tiredness, stress, or alcohol consumption. |
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ICD-10-CM |
G40.B01 |
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db |
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ICD-10-CM |
G40.B09 |
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db |
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ICD-10-CM |
G40.B11 |
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db |
key |
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ICD-10-CM |
G40.B19 |
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db |
key |
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MeSH |
D020190 |
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db |
key |
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OMIM |
254770 |
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db |
key |
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OMIM |
607628 |
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db |
key |
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OMIM |
607682 |
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db |
key |
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OMIM |
611136 |
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db |
key |
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OMIM |
613060 |
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db |
key |
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OMIM |
614280 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
6204001 |
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Juvenile Paget disease |
https://ghr.nlm.nih.gov/condition/juvenile-paget-disease |
Juvenile Paget disease is rare; about 50 affected individuals have been |
html:p |
Juvenile Paget disease is a disorder that affects bone growth. This disease |
ar |
autosomal recessive |
TNFRSF11B |
https://ghr.nlm.nih.gov/gene/TNFRSF11B |
chronic congenital idiopathic hyperphosphatasemia |
db |
key |
2010-02 |
2017-12-29 |
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青少年型變形性骨炎 |
identified worldwide. |
causes bones to be abnormally large, misshapen, and easily broken (fractured). |
familial idiopathic hyperphosphatasemia |
GTR |
C0268414 |
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html:p |
The signs of juvenile Paget disease appear in infancy or early childhood. As |
familial osteoectasia |
db |
key |
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bones grow, they become progressively weaker and more deformed. These |
hyperostosis corticalis deformans juvenilis |
MeSH |
D010001 |
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abnormalities usually become more severe during the adolescent growth spurt, |
hyperphosphatasemia with bone disease |
db |
key |
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when bones grow very quickly. |
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hyperphosphatasia, familial idiopathic |
OMIM |
239000 |
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html:p |
Juvenile Paget disease affects the entire skeleton, resulting in widespread bone |
idiopathic hyperphosphatasia |
db |
key |
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and joint pain. The bones of the skull tend to grow unusually large and thick, |
JPD |
Orphanet |
2801 |
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which can lead to hearing loss. The disease also affects bones of the spine |
juvenile Paget's disease |
db |
key |
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(vertebrae). The deformed vertebrae can collapse, leading to abnormal curvature |
osteochalasia desmalis familiaris |
SNOMED CT |
9723006 |
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of the spine. Additionally, weight-bearing long bones in the legs tend to bow |
osteoectasia with hyperphosphatasia |
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and fracture easily, which can interfere with standing and walking. |
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related-gene-list |
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Juvenile polyposis syndrome |
https://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome |
Juvenile polyposis syndrome occurs in approximately 1 in 100,000 |
html:p |
Juvenile polyposis syndrome is a disorder characterized by multiple noncancerous |
ad |
autosomal dominant |
BMPR1A |
https://ghr.nlm.nih.gov/gene/BMPR1A |
JIP |
db |
key |
2013-10 |
2017-12-29 |
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individuals worldwide. |
(benign) growths called juvenile polyps. People with juvenile polyposis |
related-gene |
gene-symbol |
ghr-page |
JPS |
GTR |
C0345893 |
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syndrome typically develop polyps before age 20; however, in the name of this |
SMAD4 |
https://ghr.nlm.nih.gov/gene/SMAD4 |
juvenile intestinal polyposis |
db |
key |
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condition "juvenile" refers to the characteristics of the tissues that make up |
GeneReviews |
jps |
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the polyp, not the age of the affected individual. These growths occur in the |
db |
key |
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gastrointestinal tract, typically in the large intestine (colon). The number of |
ICD-10-CM |
D12.6 |
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polyps varies from only a few to hundreds, even among affected members of the |
db |
key |
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same family. Polyps may cause gastrointestinal bleeding, a shortage of red |
MeSH |
D044483 |
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blood cells (anemia), abdominal pain, and diarrhea. Approximately 15 percent of |
db |
key |
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people with juvenile polyposis syndrome have other abnormalities, such as a |
OMIM |
174900 |
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twisting of the intestines (intestinal malrotation), heart or brain |
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db |
key |
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abnormalities, an opening in the roof of the mouth (cleft palate), extra fingers |
Orphanet |
2929 |
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or toes (polydactyly), and abnormalities of the genitalia or urinary tract. |
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db |
key |
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html:p |
Juvenile polyposis syndrome is diagnosed when a person has any one of the |
SNOMED CT |
9273005 |
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following: (1) more than five juvenile polyps of the colon or rectum; (2) |
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juvenile polyps in other parts of the gastrointestinal tract; or (3) any number |
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of juvenile polyps and one or more affected family members. Single juvenile |
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polyps are relatively common in children and are not characteristic of juvenile |
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polyposis syndrome. |
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html:p |
Three types of juvenile polyposis syndrome have been described, based on the |
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signs and symptoms of the disorder. Juvenile polyposis of infancy is |
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characterized by polyps that occur throughout the gastrointestinal tract during |
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infancy. Juvenile polyposis of infancy is the most severe form of the disorder |
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and is associated with the poorest outcome. Children with this type may develop |
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a condition called protein-losing enteropathy. This condition results in severe |
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diarrhea, failure to gain weight and grow at the expected rate (failure to |
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thrive), and general wasting and weight loss (cachexia). Another type called |
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generalized juvenile polyposis is diagnosed when polyps develop throughout the |
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gastrointestinal tract. In the third type, known as juvenile polyposis coli, |
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affected individuals develop polyps only in their colon. People with generalized |
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juvenile polyposis and juvenile polyposis coli typically develop polyps during |
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childhood. |
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html:p |
Most juvenile polyps are benign, but there is a chance that polyps can become |
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cancerous (malignant). It is estimated that people with juvenile polyposis |
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syndrome have a 10 to 50 percent risk of developing a cancer of the |
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gastrointestinal tract. The most common type of cancer seen in people with |
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juvenile polyposis syndrome is colorectal cancer. |
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related-gene-list |
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Juvenile primary lateral sclerosis |
https://ghr.nlm.nih.gov/condition/juvenile-primary-lateral-sclerosis |
Juvenile primary lateral sclerosis is a rare disorder, with few reported |
html:p |
Juvenile primary lateral sclerosis is a rare disorder characterized by |
ar |
autosomal recessive |
ALS2 |
https://ghr.nlm.nih.gov/gene/ALS2 |
JPLS |
db |
key |
2013-07 |
2017-12-29 |
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cases. |
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progressive weakness and tightness (spasticity) of muscles in the arms, legs, |
related-gene |
gene-symbol |
ghr-page |
juvenile PLS |
GTR |
C1853396 |
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and face. The features of this disorder are caused by damage to motor neurons, |
ERLIN2 |
https://ghr.nlm.nih.gov/gene/ERLIN2 |
PLSJ |
db |
key |
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which are specialized nerve cells in the brain and spinal cord that control |
primary lateral sclerosis, juvenile |
GeneReviews |
iahsp |
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muscle movement. |
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html:p |
Symptoms of juvenile primary lateral sclerosis begin in early childhood and |
MeSH |
D016472 |
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progress slowly over many years. Early symptoms include clumsiness, muscle |
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key |
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weakness and spasticity in the legs, and difficulty with balance. As symptoms |
OMIM |
606353 |
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progress, the spasticity spreads to the arms and hands and individuals develop |
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slurred speech, drooling, difficulty swallowing, and an inability to walk. |
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SNOMED CT |
717964007 |
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related-gene-list |
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Juvenile primary osteoporosis |
https://ghr.nlm.nih.gov/condition/juvenile-primary-osteoporosis |
The prevalence of juvenile primary osteoporosis is unknown. Nearly 1 in 10 |
html:p |
Juvenile primary osteoporosis is a skeletal disorder characterized by thinning |
ad |
autosomal dominant |
LRP5 |
https://ghr.nlm.nih.gov/gene/LRP5 |
childhood-onset primary osteoporosis |
db |
key |
2013-01 |
2017-12-29 |
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adults over age 50 have osteoporosis, but the condition is uncommon in children. |
of the bones (osteoporosis) that begins in childhood. Osteoporosis is caused by |
idiopathic juvenile osteoporosis |
GTR |
C1866079 |
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Osteoporosis can occur at a young age as a feature of other conditions but |
a shortage of calcium and other minerals in bones (decreased bone mineral |
db |
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rarely occurs without other signs and symptoms (primary osteoporosis). |
density), which makes the bones brittle and prone to fracture. Affected |
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MeSH |
D010024 |
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individuals often have multiple fractures in the long bones of the arms and |
db |
key |
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legs, especially in the regions where new bone forms (metaphyses). They also |
SNOMED CT |
240156000 |
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have fractures in the bones that form the spine (vertebrae), which can cause |
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collapse of the affected vertebrae (compressed vertebrae). Multiple fractures |
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can cause bone pain and lead to movement problems. |
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related-gene-list |
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Kabuki syndrome |
https://ghr.nlm.nih.gov/condition/kabuki-syndrome |
Kabuki syndrome occurs in approximately 1 in 32,000 newborns. |
html:p |
Kabuki syndrome is a disorder that affects many parts of the body. It is |
ad |
autosomal dominant |
KDM6A |
https://ghr.nlm.nih.gov/gene/KDM6A |
Kabuki make-up syndrome |
db |
key |
2017-01 |
2017-12-29 |
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歌舞伎症候群 |
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characterized by distinctive facial features including arched eyebrows; long |
related-gene |
gene-symbol |
ghr-page |
Kabuki makeup syndrome |
GTR |
C3275495 |
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eyelashes; long openings of the eyelids (long palpebral fissures) with the lower |
KMT2D |
https://ghr.nlm.nih.gov/gene/KMT2D |
KMS |
db |
key |
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lids turned out (everted) at the outside edges; a flat, broadened tip of the |
Niikawa-Kuroki syndrome |
GTR |
CN030661 |
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nose; and large protruding earlobes. The name of this disorder comes from the |
db |
key |
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resemblance of its characteristic facial appearance to stage makeup used in |
GeneReviews |
kabuki |
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traditional Japanese Kabuki theater. |
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key |
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html:p |
People with Kabuki syndrome have mild to severe developmental delay and |
MeSH |
D000015 |
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intellectual disability. Affected individuals may also have seizures, an |
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key |
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unusually small head size (microcephaly), or weak muscle tone (hypotonia). Some |
OMIM |
147920 |
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have eye problems such as rapid, involuntary eye movements (nystagmus) or eyes |
db |
key |
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that do not look in the same direction (strabismus). |
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OMIM |
300867 |
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html:p |
Other characteristic features of Kabuki syndrome include short stature and |
db |
key |
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skeletal abnormalities such as abnormal side-to-side curvature of the spine |
Orphanet |
2322 |
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(scoliosis), short fifth (pinky) fingers, or problems with the hip and knee |
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key |
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joints. The roof of the mouth may have an abnormal opening (cleft palate) or be |
SNOMED CT |
313426007 |
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high and arched, and dental problems are common in affected individuals. People |
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with Kabuki syndrome may also have fingerprints with unusual features and fleshy |
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pads at the tips of the fingers. These prominent finger pads are called fetal |
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finger pads because they normally occur in human fetuses; in most people they |
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disappear before birth. |
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html:p |
A wide variety of other health problems occur in some people with Kabuki |
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syndrome. Among the most commonly reported are heart abnormalities, frequent ear |
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infections (otitis media), hearing loss, and early puberty. |
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related-gene-list |
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Kallmann syndrome |
https://ghr.nlm.nih.gov/condition/kallmann-syndrome |
Kallmann syndrome occurs more often in males than in females, with an |
html:p |
Kallmann syndrome is a condition characterized by delayed or absent puberty and |
ad |
autosomal dominant |
ANOS1 |
https://ghr.nlm.nih.gov/gene/ANOS1 |
anosmic hypogonadism |
db |
key |
2016-12 |
2017-12-29 |
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卡勒曼症候群 |
estimated prevalence of 1 in 30,000 males and 1 in 120,000 females. |
an impaired sense of smell. |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
anosmic idiopathic hypogonadotropic hypogonadism |
GTR |
C0162809 |
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html:p |
This disorder is a form of hypogonadotropic hypogonadism, which is a condition |
ar |
autosomal recessive |
AXL |
https://ghr.nlm.nih.gov/gene/AXL |
hypogonadism with anosmia |
db |
key |
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resulting from a lack of production of certain hormones that direct sexual |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
hypogonadotropic hypogonadism and anosmia |
GTR |
C1563719 |
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development. These hormones are normally made in a part of the brain called the |
xr |
X-linked recessive |
CCDC141 |
https://ghr.nlm.nih.gov/gene/CCDC141 |
hypogonadotropic hypogonadism-anosmia syndrome |
db |
key |
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hypothalamus. Males born with hypogonadotropic hypogonadism often have an |
related-gene |
gene-symbol |
ghr-page |
Kallman's syndrome |
GTR |
C1563720 |
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unusually small penis (micropenis) and undescended testes (cryptorchidism). At |
CHD7 |
https://ghr.nlm.nih.gov/gene/CHD7 |
db |
key |
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puberty, most affected individuals do not develop secondary sex characteristics, |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1839911 |
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such as the growth of facial hair and deepening of the voice in males, the |
DUSP6 |
https://ghr.nlm.nih.gov/gene/DUSP6 |
db |
key |
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start of monthly periods (menstruation) and breast development in females, and a |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1857720 |
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growth spurt in both sexes. Without treatment, most affected men and women are |
FEZF1 |
https://ghr.nlm.nih.gov/gene/FEZF1 |
db |
key |
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unable to have biological children (infertile). |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2675188 |
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html:p |
In Kallmann syndrome, the sense of smell is either diminished (hyposmia) or |
FGF8 |
https://ghr.nlm.nih.gov/gene/FGF8 |
db |
key |
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completely absent (anosmia). This feature distinguishes Kallmann syndrome from |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2675302 |
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most other forms of hypogonadotropic hypogonadism, which do not affect the sense |
FGF17 |
https://ghr.nlm.nih.gov/gene/FGF17 |
db |
key |
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of smell. Many people with Kallmann syndrome are not aware that they are unable |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2930927 |
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to detect odors until the impairment is discovered through testing. |
FGFR1 |
https://ghr.nlm.nih.gov/gene/FGFR1 |
db |
key |
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html:p |
Kallmann syndrome can have a wide variety of additional signs and symptoms. |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
kms |
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These include a failure of one kidney to develop (unilateral renal agenesis), |
FLRT3 |
https://ghr.nlm.nih.gov/gene/FLRT3 |
db |
key |
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abnormalities of bones in the fingers or toes, a cleft lip with or without an |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D017436 |
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opening in the roof of the mouth (a cleft palate), abnormal eye movements, |
HS6ST1 |
https://ghr.nlm.nih.gov/gene/HS6ST1 |
db |
key |
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hearing loss, and abnormalities of tooth development. Some affected individuals |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
147950 |
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have a feature called bimanual synkinesis, in which the movements of one hand |
IL17RD |
https://ghr.nlm.nih.gov/gene/IL17RD |
db |
key |
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are mirrored by the other hand. Bimanual synkinesis can make it difficult to do |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
244200 |
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tasks that require the hands to move separately, such as playing a musical |
NSMF |
https://ghr.nlm.nih.gov/gene/NSMF |
db |
key |
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instrument. |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
308700 |
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PROK2 |
https://ghr.nlm.nih.gov/gene/PROK2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
308750 |
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PROKR2 |
https://ghr.nlm.nih.gov/gene/PROKR2 |
db |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
610628 |
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SEMA3A |
https://ghr.nlm.nih.gov/gene/SEMA3A |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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Orphanet |
478 |
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SEMA7A |
https://ghr.nlm.nih.gov/gene/SEMA7A |
db |
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related-gene |
gene-symbol |
ghr-page |
|
SNOMED CT |
93559003 |
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SOX10 |
https://ghr.nlm.nih.gov/gene/SOX10 |
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related-gene |
gene-symbol |
ghr-page |
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SPRY4 |
https://ghr.nlm.nih.gov/gene/SPRY4 |
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related-gene |
gene-symbol |
ghr-page |
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WDR11 |
https://ghr.nlm.nih.gov/gene/WDR11 |
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related-gene-list |
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Kaufman oculocerebrofacial syndrome |
https://ghr.nlm.nih.gov/condition/kaufman-oculocerebrofacial-syndrome |
The prevalence of Kaufman oculocerebrofacial syndrome is unknown. At least |
html:p |
Kaufman oculocerebrofacial syndrome is a disorder characterized by eye problems |
ar |
autosomal recessive |
UBE3B |
https://ghr.nlm.nih.gov/gene/UBE3B |
blepharophimosis-ptosis-intellectual disability syndrome |
db |
key |
2017-01 |
2017-12-29 |
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14 affected individuals have been described in the medical literature. |
(oculo-), intellectual disability (-cerebro-), and a distinctive pattern of |
BPIDS |
GTR |
C1855663 |
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facial features (-facial). |
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KOS |
db |
key |
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html:p |
Most individuals with Kaufman oculocerebrofacial syndrome have an unusually |
oculocerebrofacial syndrome, Kaufman type |
GeneReviews |
kos |
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small head size (microcephaly), and some have structural abnormalities of the |
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brain. Affected individuals have weak muscle tone (hypotonia), and are delayed |
MeSH |
D000015 |
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in developing motor skills such as walking. Intellectual disability is severe or |
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profound. Most affected individuals never acquire the ability to speak. |
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OMIM |
244450 |
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html:p |
Eye abnormalities and their effect on vision vary among people with Kaufman |
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oculocerebrofacial syndrome. Some people with this disorder have abnormally |
Orphanet |
2707 |
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small or poorly developed eyes (microphthalmia); microcornea, in which the clear |
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front covering of the eye (cornea) is small and abnormally curved; missing |
SNOMED CT |
722056009 |
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pieces of tissue in structures that form the eye (coloboma); or underdevelopment |
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of the nerves that carry signals between the eyes and the brain (optic nerve |
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hypoplasia). Eyes that do not look in the same direction (strabismus), |
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nearsightedness (myopia) or farsightedness (hyperopia), or an inward turning of |
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the lower eyelid (entropion) can also occur. |
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html:p |
Individuals with Kaufman oculocerebrofacial syndrome typically have a |
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characteristic pattern of facial features. These include highly arched eyebrows, |
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an increased distance between the inner corners of the eyes (telecanthus), a |
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narrowing of the eye opening (blepharophimosis), skin folds covering the inner |
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corner of the eyes (epicanthal folds), droopy eyelids (ptosis), and outside |
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corners of the eyes that point upward (upslanting palpebral fissures). Ear |
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abnormalities include low-set ears with small lobes and growths of skin (skin |
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tags) in front of the ear (preauricular tags). The nose has a narrow bridge, a |
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wide base, and nostrils that open to the front rather than downward (anteverted |
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nares). Affected individuals may also have flat cheeks; a space between the nose |
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and upper lip (philtrum) that is unusually long and smooth; a narrow mouth; and |
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an unusually small jaw (micrognathia). |
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html:p |
Other signs and symptoms that can occur in people with this disorder include |
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short stature; hearing loss; and abnormalities of the heart, respiratory tract, |
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gastrointestinal tract, kidneys, genitals, or skeleton. Affected individuals can |
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live into adulthood; however, their average life expectancy is unknown because |
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of the small number of people who have been diagnosed with this disorder. |
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related-gene-list |
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Kawasaki disease |
https://ghr.nlm.nih.gov/condition/kawasaki-disease |
In the United States and other Western countries, Kawasaki disease occurs |
html:p |
Kawasaki disease is a sudden and time-limited (acute) illness that affects |
u |
pattern unknown |
ITPKC |
https://ghr.nlm.nih.gov/gene/ITPKC |
acute febrile mucocutaneous lymph node syndrome |
db |
key |
2015-09 |
2017-12-29 |
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川崎氏病 |
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in approximately 1 in 10,000 children under 5 each year. The condition is 10 to |
infants and young children. Affected children develop a prolonged fever lasting |
Kawasaki syndrome |
GTR |
C0026691 |
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mucocutaneous lymph node syndrome |
20 times more common in East Asia, including Japan, Korea, and Taiwan. |
several days, a skin rash, and swollen lymph nodes in the neck (cervical |
KD |
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黏膜皮膚淋巴腺综合征 |
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lymphadenopathy). They also develop redness in the whites of the eyes |
mucocutaneous lymph node syndrome |
ICD-10-CM |
M30.3 |
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(conjunctivitis) and redness (erythema) of the lips, lining of the mouth (oral |
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key |
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mucosa), tongue, palms of the hands, and soles of the feet. |
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MeSH |
D009080 |
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html:p |
Without treatment, 15 to 25 percent of individuals with Kawasaki disease develop |
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bulging and thinning of the walls of the arteries that supply blood to the |
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OMIM |
611775 |
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heart muscle (coronary artery aneurysms) or other damage to the coronary |
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arteries, which can be life-threatening. |
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Orphanet |
2331 |
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related-gene-list |
|
SNOMED CT |
75053002 |
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KBG syndrome |
https://ghr.nlm.nih.gov/condition/kbg-syndrome |
KBG syndrome is a rare disorder that has been reported in more than 100 |
html:p |
KBG syndrome is a rare disorder that affects several body systems. "KBG" |
ad |
autosomal dominant |
ANKRD11 |
https://ghr.nlm.nih.gov/gene/ANKRD11 |
macrodontia, mental retardation, characteristic facies, short stature, and |
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2015-01 |
2017-12-29 |
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individuals. For unknown reasons, males are affected more often than females. |
represents the surname initials of the first families diagnosed with the |
skeletal anomalies |
GTR |
C0220687 |
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Doctors think the disorder is underdiagnosed because the signs and symptoms can |
disorder. Common signs and symptoms in individuals with this condition include |
short stature-characteristic facies-mental retardation-macrodontia-skeletal |
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be mild and may be attributed to other disorders. |
unusual facial features, skeletal abnormalities, and intellectual disability. |
anomalies syndrome |
MeSH |
D000015 |
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html:p |
A characteristic feature of KBG syndrome is unusually large upper front teeth |
short stature, characteristic facies, macrodontia, mental retardation, and |
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(macrodontia). Other distinctive facial features include a wide, short skull |
skeletal anomalies |
OMIM |
148050 |
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(brachycephaly), a triangular face shape, widely spaced eyes (hypertelorism), |
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wide eyebrows that may grow together in the middle (synophrys), a prominent |
Orphanet |
2332 |
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nasal bridge, a long space between the nose and upper lip (philtrum), and a thin |
db |
key |
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upper lip. |
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SNOMED CT |
711156009 |
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html:p |
A common skeletal abnormality in people with KBG syndrome is slowed |
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mineralization of bones (delayed bone age); for example, an affected 3-year-old |
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child may have bones more typical of a child of 2. In addition, affected |
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individuals can have abnormalities of the bones of the spine (vertebrae) and |
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ribs. They can also have abnormalities of the bones of the hands, including |
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unusually short or curved fifth (pinky) fingers (brachydactyly or clinodactyly, |
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respectively). Most affected individuals are shorter than average from birth. |
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html:p |
Development of mental and movement abilities is also delayed in KBG syndrome. |
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Most affected individuals learn to speak and walk later than normal and have |
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mild to moderate intellectual disability. Some people with this condition have |
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behavioral or emotional problems, such as hyperactivity or anxiety. |
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html:p |
Less common features of KBG syndrome include hearing loss, seizures, and heart |
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defects. |
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inheritance-pattern-list |
related-gene-list |
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KCNK9 imprinting syndrome |
https://ghr.nlm.nih.gov/condition/kcnk9-imprinting-syndrome |
KCNK9 imprinting syndrome is a rare condition. At least 19 affected |
html:p |
html:i |
|
ad |
autosomal dominant |
KCNK9 |
synonym |
db-key |
db |
key |
2017-06 |
2017-12-29 |
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individuals have been described in the medical literature. |
KCNK9 |
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synonym |
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GTR |
C2676770 |
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synonym |
db-key |
db |
key |
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synonym |
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GeneReviews |
kcnk9-is |
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synonym |
db-key |
db |
key |
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MeSH |
D008607 |
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db-key |
db |
key |
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OMIM |
612292 |
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db-key |
db |
key |
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html:p |
html:i |
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Orphanet |
166108 |
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KCNK9 |
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html:p |
This condition is associated with unusual facial features, including an |
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elongated face that narrows at the temples; an upper lip that points outward |
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(called a tented lip); a short, broad space between the lip and the nose |
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(philtrum); a small lower jaw (micrognathia); and abnormally shaped eyebrows. |
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Some affected individuals have an opening in the roof of the mouth (cleft |
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html:i |
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KCNK9 |
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related-gene-list |
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Kearns-Sayre syndrome |
https://ghr.nlm.nih.gov/condition/kearns-sayre-syndrome |
The prevalence of Kearns-Sayre syndrome is approximately 1 to 3 per 100,000 |
html:p |
Kearns-Sayre syndrome is a condition that affects many parts of the body, |
m |
mitochondrial |
mitochondrial DNA |
https://ghr.nlm.nih.gov/mitochondrial-dna |
Kearns-Sayre mitochondrial cytopathy |
db |
key |
2011-12 |
2017-12-29 |
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Kearns-Sayre氏症候群 |
individuals. |
especially the eyes. The features of Kearns-Sayre syndrome usually appear before |
KSS |
GTR |
C0022541 |
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age 20, and the condition is diagnosed by a few characteristic signs and |
db |
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symptoms. People with Kearns-Sayre syndrome have progressive external |
GeneReviews |
kss |
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ophthalmoplegia, which is weakness or paralysis of the eye muscles that impairs |
db |
key |
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eye movement and causes drooping eyelids (ptosis). Affected individuals also |
ICD-10-CM |
H49.81 |
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have an eye condition called pigmentary retinopathy, which results from |
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key |
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breakdown (degeneration) of the light-sensing tissue at the back of the eye (the |
ICD-10-CM |
H49.811 |
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retina) that gives it a speckled and streaked appearance. The retinopathy may |
db |
key |
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cause loss of vision. In addition, people with Kearns-Sayre syndrome have at |
ICD-10-CM |
H49.812 |
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least one of the following signs or symptoms: abnormalities of the electrical |
db |
key |
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signals that control the heartbeat (cardiac conduction defects), problems with |
ICD-10-CM |
H49.813 |
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coordination and balance that cause unsteadiness while walking (ataxia), or |
db |
key |
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abnormally high levels of protein in the fluid that surrounds and protects the |
ICD-10-CM |
H49.819 |
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brain and spinal cord (the cerebrospinal fluid or CSF). |
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key |
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html:p |
People with Kearns-Sayre syndrome may also experience muscle weakness in their |
MeSH |
D007625 |
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limbs, deafness, kidney problems, or a deterioration of cognitive functions |
db |
key |
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(dementia). Affected individuals often have short stature. In addition, diabetes |
OMIM |
530000 |
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mellitus is occasionally seen in people with Kearns-Sayre syndrome. |
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key |
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html:p |
When the muscle cells of affected individuals are stained and viewed under a |
Orphanet |
480 |
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microscope, these cells usually appear abnormal. The abnormal muscle cells |
db |
key |
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contain an excess of structures called mitochondria and are known as ragged-red |
SNOMED CT |
25792000 |
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fibers. |
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html:p |
A related condition called ophthalmoplegia-plus may be diagnosed if an |
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individual has many of the signs and symptoms of Kearns-Sayre syndrome but not |
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all the criteria are met. |
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Kenny-Caffey syndrome |
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Kenny-Caffey 症候群 |
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Keratitis-ichthyosis-deafness syndrome |
https://ghr.nlm.nih.gov/condition/keratitis-ichthyosis-deafness-syndrome |
KID syndrome is a rare disorder. Its prevalence is unknown. Approximately |
html:p |
Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, |
ad |
autosomal dominant |
GJB2 |
https://ghr.nlm.nih.gov/gene/GJB2 |
ichthyosiform erythroderma, corneal involvement, and deafness |
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2012-11 |
2017-12-29 |
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100 cases have been reported. |
skin abnormalities, and hearing loss. |
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memo |
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keratitis, ichthyosis, and deafness |
GTR |
C1275089 |
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html:p |
People with KID syndrome usually have keratitis, which is inflammation of the |
ar |
autosomal recessive |
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KID syndrome |
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front surface of the eye (the cornea). The keratitis may cause pain, increased |
GTR |
C1835678 |
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sensitivity to light (photophobia), abnormal blood vessel growth over the cornea |
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(neovascularization), and scarring. Over time, affected individuals experience |
MeSH |
D007634 |
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a loss of sharp vision (reduced visual acuity); in severe cases the keratitis |
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can lead to blindness. |
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OMIM |
148210 |
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html:p |
Most people with KID syndrome have thick, hard skin on the palms of the hands |
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and soles of the feet (palmoplantar keratoderma). Affected individuals also have |
OMIM |
242150 |
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thick, reddened patches of skin (erythrokeratoderma) that are dry and scaly |
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(ichthyosis). These dry patches can occur anywhere on the body, although they |
SNOMED CT |
239059004 |
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most commonly affect the neck, groin, and armpits. Breaks in the skin often |
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occur and may lead to infections. In severe cases these infections can be |
SNOMED CT |
403780007 |
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life-threatening, especially in infancy. Approximately 12 percent of people with |
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KID syndrome develop a type of skin cancer called squamous cell carcinoma, |
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which may also affect mucous membranes such as the lining of the mouth. |
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html:p |
Partial hair loss is a common feature of KID syndrome, and often affects the |
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eyebrows and eyelashes. Affected individuals may also have small, abnormally |
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formed nails. |
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html:p |
Hearing loss in this condition is usually profound, but occasionally is less |
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severe. |
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related-gene-list |
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Keratoconus |
https://ghr.nlm.nih.gov/condition/keratoconus |
Keratoconus is estimated to affect 1 in 500 to 2,000 individuals worldwide. |
html:p |
Keratoconus is an eye condition that affects the shape of the cornea, which is |
ad |
autosomal dominant |
CAST |
https://ghr.nlm.nih.gov/gene/CAST |
bulging cornea |
db |
key |
2017-07 |
2017-12-29 |
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圆锥角膜病 |
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the clear outer covering of the eye. In this condition, the cornea thins and |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
conical cornea |
GTR |
C0022578 |
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(Eyes) |
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bulges outward, eventually resembling a cone shape. These corneal abnormalities, |
ar |
autosomal recessive |
COL4A3 |
https://ghr.nlm.nih.gov/gene/COL4A3 |
KC |
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which worsen over time, can lead to nearsightedness (myopia), blurred vision |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1835677 |
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that cannot be improved with corrective lenses (irregular astigmatism), and |
n |
not inherited |
COL4A4 |
https://ghr.nlm.nih.gov/gene/COL4A4 |
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vision loss. |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C3553302 |
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html:p |
Other corneal changes typical of keratoconus that can be seen during an eye exam |
COL5A1 |
https://ghr.nlm.nih.gov/gene/COL5A1 |
db |
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include iron deposits in the cornea that form a yellow-to-brownish ring, called |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3553306 |
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the Fleischer ring, surrounding the colored part of the eye (iris). Affected |
DOCK9 |
https://ghr.nlm.nih.gov/gene/DOCK9 |
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individuals may also develop Vogt's striae, which are thin, vertical, white |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3553307 |
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lines in the tissue at the back of the cornea. |
FNDC3B |
https://ghr.nlm.nih.gov/gene/FNDC3B |
db |
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html:p |
Keratoconus may affect only one eye at first, but eventually the corneas of both |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3553308 |
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eyes become misshapen, although they might not be affected with the same |
FOXO1 |
https://ghr.nlm.nih.gov/gene/FOXO1 |
db |
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severity. As keratoconus worsens, people with this condition can develop corneal |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H18.6 |
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scarring, often caused by exposure of the abnormally thin cornea to prolonged |
HGF |
https://ghr.nlm.nih.gov/gene/HGF |
db |
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contact lens use or excessive eye rubbing. |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D007640 |
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html:p |
The eye changes characteristic of keratoconus typically begin in adolescence and |
IL1A |
https://ghr.nlm.nih.gov/gene/IL1A |
db |
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slowly worsen until mid-adulthood at which point the shape of the cornea |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
148300 |
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remains stable. |
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IL1RN |
https://ghr.nlm.nih.gov/gene/IL1RN |
db |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
608586 |
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LOX |
https://ghr.nlm.nih.gov/gene/LOX |
db |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
608932 |
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MIR184 |
https://ghr.nlm.nih.gov/gene/MIR184 |
db |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
609271 |
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RAB3GAP1 |
https://ghr.nlm.nih.gov/gene/RAB3GAP1 |
db |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
614622 |
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SLC4A11 |
https://ghr.nlm.nih.gov/gene/SLC4A11 |
db |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
614623 |
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TGFBI |
https://ghr.nlm.nih.gov/gene/TGFBI |
db |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
614628 |
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VSX1 |
https://ghr.nlm.nih.gov/gene/VSX1 |
db |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
614629 |
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WNT10A |
https://ghr.nlm.nih.gov/gene/WNT10A |
db |
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related-gene |
gene-symbol |
ghr-page |
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Orphanet |
2335 |
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ZEB1 |
https://ghr.nlm.nih.gov/gene/ZEB1 |
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related-gene |
gene-symbol |
ghr-page |
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SNOMED CT |
65636009 |
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ZNF469 |
https://ghr.nlm.nih.gov/gene/ZNF469 |
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related-gene-list |
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Keratoderma with woolly hair |
https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair |
Keratoderma with woolly hair is rare; its prevalence worldwide is |
html:p |
Keratoderma with woolly hair is a group of related conditions that affect the |
ar |
autosomal recessive |
DSC2 |
https://ghr.nlm.nih.gov/gene/DSC2 |
KWWH |
db |
key |
2015-11 |
2017-12-29 |
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unknown.Type I (Naxos disease) was first described in families from the Greek |
skin and hair and in many cases increase the risk of potentially |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1832600 |
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island of Naxos. Since then, affected families have been found in other Greek |
life-threatening heart problems. People with these conditions have hair that is |
DSP |
https://ghr.nlm.nih.gov/gene/DSP |
db |
key |
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islands, Turkey, and the Middle East. This form of the condition may affect up |
unusually coarse, dry, fine, and tightly curled. In some cases, the hair is also |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1864850 |
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to 1 in 1,000 people from the Greek islands.Type II (Carvajal syndrome), type |
sparse. The woolly hair texture typically affects only scalp hair and is |
JUP |
https://ghr.nlm.nih.gov/gene/JUP |
db |
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III, and type IV have each been identified in only a small number of families |
present from birth. Starting early in life, affected individuals also develop |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C4014393 |
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worldwide. |
palmoplantar keratoderma, a condition that causes skin on the palms of the hands |
KANK2 |
https://ghr.nlm.nih.gov/gene/KANK2 |
db |
key |
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and the soles of the feet to become thick, scaly, and calloused. |
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GTR |
C4015202 |
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html:p |
Cardiomyopathy, which is a disease of the heart muscle, is a life-threatening |
db |
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health problem that can develop in people with keratoderma with woolly hair. |
GeneReviews |
arvd |
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Unlike the other features of this condition, signs and symptoms of |
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cardiomyopathy may not appear until adolescence or later. Complications of |
GeneReviews |
dcm-ov |
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cardiomyopathy can include an abnormal heartbeat (arrhythmia), heart failure, |
db |
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and sudden death. |
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MeSH |
D006201 |
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html:p |
Keratoderma with woolly hair comprises several related conditions with |
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overlapping signs and symptoms. Researchers have recently proposed classifying |
MeSH |
D006331 |
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keratoderma with woolly hair into four types, based on the underlying genetic |
db |
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cause. Type I, also known as Naxos disease, is characterized by palmoplantar |
MeSH |
D007645 |
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keratoderma, woolly hair, and a form of cardiomyopathy called arrhythmogenic |
db |
key |
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right ventricular cardiomyopathy (ARVC). Type II, also known as Carvajal |
OMIM |
601214 |
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syndrome, has hair and skin abnormalities similar to type I but features a |
db |
key |
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different form of cardiomyopathy, called dilated left ventricular |
|
OMIM |
605676 |
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cardiomyopathy. Type III also has signs and symptoms similar to those of type I, |
db |
key |
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including ARVC, although the hair and skin abnormalities are often milder. Type |
OMIM |
610476 |
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IV is characterized by palmoplantar keratoderma and woolly and sparse hair, as |
db |
key |
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well as abnormal fingernails and toenails. Type IV does not appear to cause |
OMIM |
615821 |
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cardiomyopathy. |
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db |
key |
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OMIM |
616099 |
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db |
key |
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Orphanet |
34217 |
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db |
key |
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Orphanet |
420686 |
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db |
key |
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Orphanet |
65282 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
52564001 |
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Kindler syndrome |
https://ghr.nlm.nih.gov/condition/kindler-syndrome |
Kindler syndrome appears to be rare. About 250 cases have been reported |
html:p |
Kindler syndrome is a rare type of epidermolysis bullosa, which is a group of |
ar |
autosomal recessive |
FERMT1 |
https://ghr.nlm.nih.gov/gene/FERMT1 |
congenital bullous poikiloderma |
db |
key |
2016-06 |
2017-12-29 |
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金德勒綜合症 |
worldwide. |
genetic conditions that cause the skin to be very fragile and to blister easily. |
Kindler's syndrome |
GTR |
C0406557 |
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(Skin) |
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html:p |
From early infancy, people with Kindler syndrome have skin blistering, |
poikiloderma of Kindler |
db |
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particularly on the backs of the hands and the tops of the feet. The blisters |
GeneReviews |
kindler |
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occur less frequently over time, although repeated blistering on the hands can |
db |
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cause scarring that fuses the skin between the fingers and between the toes. |
MeSH |
D004820 |
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Affected individuals also develop thin, papery skin starting on the hands and |
db |
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feet and later affecting other parts of the body. Other skin abnormalities that |
OMIM |
173650 |
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occur with Kindler syndrome include patchy changes in skin coloring and small |
db |
key |
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clusters of blood vessels just under the skin (telangiectases), a combination |
Orphanet |
2908 |
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known as poikiloderma. In some affected individuals, the skin on the palms of |
db |
key |
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the hands and soles of the feet thickens and hardens (hyperkeratosis). Kindler |
SNOMED CT |
238836000 |
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syndrome can also cause people to be highly sensitive to ultraviolet (UV) rays |
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from the sun and to sunburn easily. |
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html:p |
Kindler syndrome can also affect the moist lining (mucosae) of the mouth, eyes, |
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esophagus, intestines, genitals, and urinary system, causing these tissues to be |
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very fragile and easily damaged. Affected individuals commonly develop severe |
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gum disease that can lead to early tooth loss. The moist tissues that line the |
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eyelids and the white part of the eyes (the conjunctiva) can become inflamed |
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(conjunctivitis), and damage to the clear outer covering of the eye (the cornea) |
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can affect vision. Narrowing (stenosis) of the esophagus, which is the tube |
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that carries food from the mouth to the stomach, causes difficulty with |
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swallowing that worsens over time. Some affected individuals develop health |
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problems related to inflammation of the colon (colitis) or damage to the mucosa |
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in the vagina, the anus, or the tube that carries urine from the bladder out of |
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the body (the urethra). |
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html:p |
Kindler syndrome increases the risk of developing a form of cancer called |
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squamous cell carcinoma. This type of cancer arises from squamous cells, which |
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are found in the outer layer of skin (the epidermis) and in the mucosae. In |
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people with Kindler syndrome, squamous cell carcinoma occurs most often on the |
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skin, lips, and the lining of the mouth (oral mucosa). |
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related-gene-list |
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Kleefstra syndrome |
https://ghr.nlm.nih.gov/condition/kleefstra-syndrome |
The prevalence of Kleefstra syndrome is unknown. Only recently has testing |
html:p |
Kleefstra syndrome is a disorder that involves many parts of the body. |
ad |
autosomal dominant |
EHMT1 |
https://ghr.nlm.nih.gov/gene/EHMT1 |
9q subtelomeric deletion syndrome |
db |
key |
2016-01 |
2017-12-29 |
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Kleefstra综合征 |
become available to distinguish it from other disorders with similar features. |
Characteristic features of Kleefstra syndrome include developmental delay and |
related-chromosome |
name |
ghr-page |
9q- syndrome |
GTR |
C0795833 |
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intellectual disability, severely limited or absent speech, and weak muscle tone |
9 |
https://ghr.nlm.nih.gov/chromosome/9 |
9q34.3 deletion syndrome |
db |
key |
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(hypotonia). Affected individuals also have an unusually small head size |
9q34.3 microdeletion syndrome |
GeneReviews |
kleefstra |
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(microcephaly) and a wide, short skull (brachycephaly). Distinctive facial |
chromosome 9q deletion syndrome |
db |
key |
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features include eyebrows that grow together in the middle (synophrys), widely |
MeSH |
D025063 |
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spaced eyes (hypertelorism), a sunken appearance of the middle of the face |
db |
key |
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(midface hypoplasia), nostrils that open to the front rather than downward |
OMIM |
610253 |
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(anteverted nares), a protruding jaw (prognathism), rolled out (everted) lips, |
db |
key |
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and a large tongue (macroglossia). Affected individuals may have a high birth |
Orphanet |
261494 |
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weight and childhood obesity. |
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db |
key |
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html:p |
People with Kleefstra syndrome may also have structural brain abnormalities, |
SNOMED CT |
43420005 |
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congenital heart defects, genitourinary abnormalities, seizures, and a tendency |
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to develop severe respiratory infections. During childhood they may exhibit |
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features of autism or related developmental disorders affecting communication |
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and social interaction. In adolescence, they may develop a general loss of |
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interest and enthusiasm (apathy) or unresponsiveness (catatonia). |
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related-gene-list |
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Klinefelter syndrome |
https://ghr.nlm.nih.gov/condition/klinefelter-syndrome |
Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. Most variants |
html:p |
Klinefelter syndrome is a chromosomal condition that affects male physical and |
n |
not inherited |
X |
https://ghr.nlm.nih.gov/chromosome/X |
Klinefelter's syndrome |
db |
key |
2013-01 |
2017-12-29 |
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Klinefelter's Syndrome |
of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer |
cognitive development. Its signs and symptoms vary among affected individuals. |
XXY syndrome |
GTR |
C0022735 |
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柯林菲特氏症 |
newborns.Researchers suspect that Klinefelter syndrome is underdiagnosed because |
html:p |
Affected individuals typically have small testes that do not produce as much |
XXY trisomy |
db |
key |
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the condition may not be identified in people with mild signs and symptoms. |
testosterone as usual. Testosterone is the hormone that directs male sexual |
ICD-10-CM |
Q98.0 |
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Additionally, the features of the condition vary and overlap significantly with |
development before birth and during puberty. A shortage of testosterone can lead |
db |
key |
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those of other conditions. |
to delayed or incomplete puberty, breast enlargement (gynecomastia), reduced |
ICD-10-CM |
Q98.1 |
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facial and body hair, and an inability to have biological children |
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db |
key |
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(infertility). Some affected individuals also have genital differences including |
ICD-10-CM |
Q98.4 |
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undescended testes (cryptorchidism), the opening of the urethra on the |
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key |
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underside of the penis (hypospadias), or an unusually small penis (micropenis). |
MeSH |
D007713 |
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html:p |
Older children and adults with Klinefelter syndrome tend to be taller than their |
db |
key |
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peers. Compared with unaffected men, adults with Klinefelter syndrome have an |
Orphanet |
484 |
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increased risk of developing breast cancer and a chronic inflammatory disease |
db |
key |
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called systemic lupus erythematosus. Their chance of developing these disorders |
SNOMED CT |
205700008 |
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is similar to that of women in the general population. |
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db |
key |
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html:p |
Children with Klinefelter syndrome may have learning disabilities and delayed |
SNOMED CT |
22053006 |
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speech and language development. They tend to be quiet, sensitive, and |
db |
key |
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unassertive, but personality characteristics vary among affected individuals. |
SNOMED CT |
38847009 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
405769009 |
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Klippel-Feil syndrome |
https://ghr.nlm.nih.gov/condition/klippel-feil-syndrome |
Klippel-Feil syndrome is estimated to occur in 1 in 40,000 to 42,000 |
html:p |
Klippel-Feil syndrome is a bone disorder characterized by the abnormal joining |
ad |
autosomal dominant |
GDF3 |
https://ghr.nlm.nih.gov/gene/GDF3 |
cervical fusion syndrome |
db |
key |
2015-06 |
2017-12-29 |
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Klippel-Feil综合征 |
newborns worldwide. Females seem to be affected slightly more often than males. |
(fusion) of two or more spinal bones in the neck (cervical vertebrae). The |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
cervical vertebral fusion |
GTR |
C0022738 |
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vertebral fusion is present from birth. Three major features result from this |
ar |
autosomal recessive |
GDF6 |
https://ghr.nlm.nih.gov/gene/GDF6 |
cervical vertebral fusion syndrome |
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vertebral fusion: a short neck, the resulting appearance of a low hairline at |
related-gene |
gene-symbol |
ghr-page |
congenital dystrophia brevicollis |
GTR |
C1859209 |
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the back of the head, and a limited range of motion in the neck. Most affected |
MEOX1 |
https://ghr.nlm.nih.gov/gene/MEOX1 |
dystrophia brevicollis congenita |
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people have one or two of these characteristic features. Less than half of all |
fusion of cervical vertebrae |
GTR |
C1861689 |
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individuals with Klippel-Feil syndrome have all three classic features of this |
KFS |
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condition. |
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Klippel-Feil deformity |
GTR |
C3150967 |
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html:p |
In people with Klippel-Feil syndrome, the fused vertebrae can limit the range of |
Klippel-Feil sequence |
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movement of the neck and back as well as lead to chronic headaches and muscle |
vertebral cervical fusion syndrome |
ICD-10-CM |
Q76.1 |
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pain in the neck and back that range in severity. People with minimal bone |
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involvement often have fewer problems compared to individuals with several |
MeSH |
D007714 |
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vertebrae affected. The shortened neck can cause a slight difference in the size |
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and shape of the right and left sides of the face (facial asymmetry). Trauma to |
OMIM |
118100 |
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the spine, such as a fall or car accident, can aggravate problems in the fused |
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area. Fusion of the vertebrae can lead to nerve damage in the head, neck, or |
OMIM |
214300 |
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back. Over time, individuals with Klippel-Feil syndrome can develop a narrowing |
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of the spinal canal (spinal stenosis) in the neck, which can compress and damage |
OMIM |
613702 |
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the spinal cord. Rarely, spinal nerve abnormalities may cause abnormal |
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sensations or involuntary movements in people with Klippel-Feil syndrome. |
Orphanet |
2345 |
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Affected individuals may develop a painful joint disorder called osteoarthritis |
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around the areas of fused bone or experience painful involuntary tensing of the |
SNOMED CT |
5601008 |
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neck muscles (cervical dystonia). In addition to the fused cervical bones, |
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people with this condition may have abnormalities in other vertebrae. Many |
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people with Klippel-Feil syndrome have abnormal side-to-side curvature of the |
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spine (scoliosis) due to malformation of the vertebrae; fusion of additional |
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vertebrae below the neck may also occur. |
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html:p |
People with Klippel-Feil syndrome may have a wide variety of other features in |
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addition to their spine abnormalities. Some people with this condition have |
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hearing difficulties, eye abnormalities, an opening in the roof of the mouth |
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(cleft palate), genitourinary problems such as abnormal kidneys or reproductive |
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organs, heart abnormalities, or lung defects that can cause breathing problems. |
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Affected individuals may have other skeletal defects including arms or legs of |
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unequal length (limb length discrepancy), which can result in misalignment of |
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the hips or knees. Additionally, the shoulder blades may be underdeveloped so |
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that they sit abnormally high on the back, a condition called Sprengel |
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deformity. Rarely, structural brain abnormalities or a type of birth defect that |
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occurs during the development of the brain and spinal cord (neural tube defect) |
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can occur in people with Klippel-Feil syndrome. |
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html:p |
In some cases, Klippel-Feil syndrome occurs as a feature of another disorder or |
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syndrome, such as Wildervanck syndrome or hemifacial microsomia. In these |
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instances, affected individuals have the signs and symptoms of both Klippel-Feil |
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syndrome and the additional disorder. |
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related-gene-list |
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Klippel-Trenaunay syndrome, KTS |
https://ghr.nlm.nih.gov/condition/klippel-trenaunay-syndrome |
Klippel-Trenaunay syndrome is estimated to affect at least 1 in 100,000 |
html:p |
Klippel-Trenaunay syndrome is a condition that affects the development of blood |
n |
not inherited |
PIK3CA |
https://ghr.nlm.nih.gov/gene/PIK3CA |
angio-osteohypertrophy syndrome |
db |
key |
2016-07 |
2017-12-29 |
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克-特二氏综合征 |
people worldwide. |
vessels, soft tissues (such as skin and muscles), and bones. The disorder has |
congenital dysplastic angiopathy |
GTR |
C0022739 |
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先天性靜脈畸形骨肥大症候群 |
three characteristic features: a red birthmark called a port-wine stain, |
Klippel-Trenaunay disease |
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abnormal overgrowth of soft tissues and bones, and vein malformations. |
KTS |
MeSH |
D007715 |
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html:p |
Most people with Klippel-Trenaunay syndrome are born with a port-wine stain. |
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This type of birthmark is caused by swelling of small blood vessels near the |
OMIM |
149000 |
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surface of the skin. Port-wine stains are typically flat and can vary from pale |
db |
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pink to deep maroon in color. In people with Klippel-Trenaunay syndrome, the |
Orphanet |
2346 |
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port-wine stain usually covers part of one limb. The affected area may become |
db |
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lighter or darker with age. Occasionally, port-wine stains develop small red |
SNOMED CT |
721105004 |
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blisters that break open and bleed easily. |
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html:p |
Klippel-Trenaunay syndrome is also associated with overgrowth of bones and soft |
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tissues beginning in infancy. Usually this abnormal growth is limited to one |
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limb, most often one leg. However, overgrowth can also affect the arms or, |
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rarely, the torso. The abnormal growth can cause pain, a feeling of heaviness, |
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and reduced movement in the affected area. If the overgrowth causes one leg to |
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be longer than the other, it can also lead to problems with walking. |
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html:p |
Malformations of veins are the third major feature of Klippel-Trenaunay |
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syndrome. These abnormalities include varicose veins, which are swollen and |
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twisted veins near the surface of the skin that often cause pain. Varicose veins |
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usually occur on the sides of the upper legs and calves. Veins deep in the |
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limbs can also be abnormal in people with Klippel-Trenaunay syndrome. |
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Malformations of deep veins increase the risk of a type of blood clot called a |
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deep vein thrombosis (DVT). If a DVT travels through the bloodstream and lodges |
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in the lungs, it can cause a life-threatening blood clot known as a pulmonary |
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embolism (PE). |
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html:p |
Other complications of Klippel-Trenaunay syndrome can include a type of skin |
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infection called cellulitis, swelling caused by a buildup of fluid (lymphedema), |
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and internal bleeding from abnormal blood vessels. Less commonly, this |
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condition is also associated with fusion of certain fingers or toes (syndactyly) |
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or the presence of extra digits (polydactyly). |
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related-gene-list |
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Kniest dysplasia |
https://ghr.nlm.nih.gov/condition/kniest-dysplasia |
Kniest dysplasia is a rare condition; the exact incidence is unknown. |
html:p |
Kniest dysplasia is a disorder of bone growth characterized by short stature |
ad |
autosomal dominant |
COL2A1 |
https://ghr.nlm.nih.gov/gene/COL2A1 |
Kniest chondrodystrophy |
db |
key |
2008-07 |
2017-12-29 |
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(dwarfism) with other skeletal abnormalities and problems with vision and |
Kniest syndrome |
GTR |
C0265279 |
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hearing. |
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Metatropic dwarfism, type II |
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html:p |
People with Kniest dysplasia are born with a short trunk and shortened arms and |
Metatropic dysplasia type II |
MeSH |
D003095 |
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legs. Adult height ranges from 42 inches to 58 inches. Affected individuals |
Swiss cheese cartilage dysplasia |
db |
key |
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have abnormally large joints that can cause pain and restrict movement, limiting |
MeSH |
D010009 |
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physical activity. These joint problems can also lead to arthritis. Other |
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key |
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skeletal features may include a rounded upper back that also curves to the side |
OMIM |
156550 |
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(kyphoscoliosis), severely flattened bones of the spine (platyspondyly), |
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key |
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dumbbell-shaped bones in the arms and legs, long and knobby fingers, and an |
Orphanet |
485 |
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inward- and upward-turning foot (clubfoot). |
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db |
key |
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html:p |
Individuals with Kniest dysplasia have a round, flat face with bulging and |
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SNOMED CT |
53974002 |
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wide-set eyes. Some affected infants are born with an opening in the roof of |
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the mouth called a cleft palate. Infants may also have breathing problems due |
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to weakness of the windpipe. Severe nearsightedness (myopia) and other eye |
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problems are common in Kniest dysplasia. Some eye problems, such as tearing of |
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the back lining of the eye (retinal detachment), can lead to blindness. Hearing |
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loss resulting from recurrent ear infections is also possible. |
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related-gene-list |
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Knobloch syndrome |
https://ghr.nlm.nih.gov/condition/knobloch-syndrome |
Knobloch syndrome is a rare condition. However, the exact prevalence of the |
html:p |
Knobloch syndrome is a rare condition characterized by severe vision problems |
ar |
autosomal recessive |
COL18A1 |
https://ghr.nlm.nih.gov/gene/COL18A1 |
retinal detachment and occipital encephalocele |
db |
key |
2011-06 |
2017-12-29 |
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condition is unknown. |
and a skull defect. |
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GTR |
C1849409 |
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html:p |
A characteristic feature of Knobloch syndrome is extreme nearsightedness (high |
db |
key |
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myopia). In addition, several other eye abnormalities are common in people with |
MeSH |
D012164 |
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this condition. Most affected individuals have vitreoretinal degeneration, which |
db |
key |
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is breakdown (degeneration) of two structures in the eye called the vitreous |
OMIM |
267750 |
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and the retina. The vitreous is the gelatin-like substance that fills the eye, |
db |
key |
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and the retina is the light-sensitive tissue at the back of the eye. |
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Orphanet |
1571 |
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Vitreoretinal degeneration often leads to separation of the retina from the back |
db |
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of the eye (retinal detachment). Affected individuals may also have |
SNOMED CT |
703542000 |
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abnormalities in the central area of the retina, called the macula. The macula |
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is responsible for sharp central vision, which is needed for detailed tasks such |
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as reading, driving, and recognizing faces. Due to abnormalities in the |
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vitreous, retina, and macula, people with Knobloch syndrome often develop |
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blindness in one or both eyes. |
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html:p |
Another characteristic feature of Knobloch syndrome is a skull defect called an |
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occipital encephalocele, which is a sac-like protrusion of the brain |
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(encephalocele) through a defect in the bone at the base of the skull (occipital |
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bone). Some affected individuals have been diagnosed with a different skull |
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defect in the occipital region, and it is unclear whether the defect is always a |
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true encephalocele. In other conditions, encephaloceles may be associated with |
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intellectual disability; however, most people with Knobloch syndrome have normal |
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intelligence. |
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related-gene-list |
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Koolen-de Vries syndrome |
https://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome |
The prevalence of Koolen-de Vries syndrome is estimated to be 1 in 16,000. |
html:p |
Koolen-de Vries syndrome is a disorder characterized by developmental delay and |
ad |
autosomal dominant |
KANSL1 |
https://ghr.nlm.nih.gov/gene/KANSL1 |
17q21.31 deletion syndrome |
db |
key |
2013-03 |
2017-12-29 |
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However, the underlying genetic cause is often not identified in people with |
mild to moderate intellectual disability. People with this disorder typically |
related-chromosome |
name |
ghr-page |
17q21.31 microdeletion syndrome |
GTR |
C1864871 |
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intellectual disability, so this condition is likely underdiagnosed. |
have a disposition that is described as cheerful, sociable, and cooperative. |
17 |
https://ghr.nlm.nih.gov/chromosome/17 |
chromosome 17q21.31 microdeletion syndrome |
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They usually have weak muscle tone (hypotonia) in childhood. About half have |
KANSL1-related intellectual disability syndrome |
GeneReviews |
mdel17q21_31 |
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recurrent seizures (epilepsy). |
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KDVS |
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html:p |
Affected individuals often have distinctive facial features including a high, |
Koolen syndrome |
MeSH |
D025063 |
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broad forehead; droopy eyelids (ptosis); a narrowing of the eye openings |
microdeletion 17q21.31 syndrome |
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(blepharophimosis); outer corners of the eyes that point upward (upward-slanting |
monosomy 17q21.31 |
OMIM |
610443 |
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palpebral fissures); skin folds covering the inner corner of the eyes |
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(epicanthal folds); a bulbous nose; and prominent ears. Males with Koolen-de |
Orphanet |
96169 |
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Vries syndrome often have undescended testes (cryptorchidism). Defects in the |
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walls between the chambers of the heart (septal defects) or other cardiac |
SNOMED CT |
717338006 |
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abnormalities, kidney problems, and skeletal anomalies such as foot deformities |
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occur in some affected individuals. |
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related-gene-list |
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Krabbe disease |
https://ghr.nlm.nih.gov/condition/krabbe-disease |
In the United States, Krabbe disease affects about 1 in 100,000 |
html:p |
Krabbe disease (also called globoid cell leukodystrophy) is a degenerative |
ar |
autosomal recessive |
GALC |
https://ghr.nlm.nih.gov/gene/GALC |
Diffuse Globoid Body Sclerosis |
db |
key |
2012-08 |
2017-12-29 |
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Krabbe氏症 |
individuals. A higher incidence (6 cases per 1,000 people) has been reported in |
disorder that affects the nervous system. It is caused by the shortage |
Galactosylceramidase Deficiency Disease |
GTR |
C0023521 |
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Globoid Cell Leukodystrophy |
a few isolated communities in Israel. |
(deficiency) of an enzyme called galactosylceramidase. This enzyme deficiency |
Galactosylceramide lipidosis |
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球細胞腦白質失養症(Krabbe氏症) |
impairs the growth and maintenance of myelin, the protective covering around |
galactosylcerebrosidase deficiency |
GeneReviews |
krabbe |
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certain nerve cells that ensures the rapid transmission of nerve impulses. |
galactosylsphingosine lipidosis |
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Krabbe disease is part of a group of disorders known as leukodystrophies, which |
GALC deficiency |
ICD-10-CM |
E75.23 |
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result from the loss of myelin (demyelination). This disorder is also |
GCL |
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characterized by the abnormal presence of globoid cells, which are globe-shaped |
GLD |
MeSH |
D007965 |
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cells that usually have more than one nucleus. |
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psychosine lipidosis |
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html:p |
The symptoms of Krabbe disease usually begin before the age of 1 year (the |
OMIM |
245200 |
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infantile form). Initial signs and symptoms typically include irritability, |
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muscle weakness, feeding difficulties, episodes of fever without any sign of |
Orphanet |
487 |
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infection, stiff posture, and slowed mental and physical development. As the |
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disease progresses, muscles continue to weaken, affecting the infant's ability |
SNOMED CT |
189979005 |
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to move, chew, swallow, and breathe. Affected infants also experience vision |
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loss and seizures. |
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SNOMED CT |
192782005 |
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html:p |
Less commonly, onset of Krabbe disease can occur in childhood, adolescence, or |
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adulthood (late-onset forms). Visual problems and walking difficulties are the |
SNOMED CT |
41142009 |
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most common initial symptoms in this form of the disorder, however, signs and |
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symptoms vary considerably among affected individuals. |
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related-gene-list |
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Kuskokwim syndrome |
https://ghr.nlm.nih.gov/condition/kuskokwim-syndrome |
Kuskokwim syndrome is extremely rare. It affects a small number of people |
html:p |
Kuskokwim syndrome is characterized by joint deformities called contractures |
ar |
autosomal recessive |
FKBP10 |
https://ghr.nlm.nih.gov/gene/FKBP10 |
arthrogryposis-like syndrome |
db |
key |
2013-11 |
2017-12-29 |
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Kuskokwim綜合症 |
from the Yup'ik Eskimo population in southwest Alaska. |
that restrict the movement of affected joints. This condition has been found |
Bruck syndrome 1 |
GTR |
C1850168 |
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only in a population of native Alaskans known as Yup'ik Eskimos, who live in and |
Kuskokwim disease |
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around a region of southwest Alaska known as the Kuskokwim River Delta. |
MeSH |
D001176 |
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html:p |
In Kuskokwim syndrome, contractures most commonly affect the knees, ankles, and |
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elbows, although other joints, particularly of the lower body, can be affected. |
Orphanet |
1149 |
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The contractures are usually present at birth and worsen during childhood. They |
db |
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tend to stabilize after childhood, and they remain throughout life. |
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SNOMED CT |
702447002 |
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html:p |
Some individuals with this condition have other bone abnormalities, most |
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commonly affecting the spine, pelvis, and feet. Affected individuals can develop |
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an inward curve of the lower back (lordosis), a spine that curves to the side |
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(scoliosis), wedge-shaped spinal bones, or an abnormality of the collarbones |
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(clavicles) described as clubbing. Affected individuals are typically shorter |
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than their peers and they may have an abnormally large head (macrocephaly). |
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related-gene-list |
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L1 syndrome |
https://ghr.nlm.nih.gov/condition/l1-syndrome |
The prevalence of L1 syndrome overall is unknown; however, HSAS is |
html:p |
L1 syndrome describes a group of conditions that primarily affect the nervous |
x |
X-linked |
|
L1CAM |
https://ghr.nlm.nih.gov/gene/L1CAM |
adducted thumbs-mental retardation syndrome |
db |
key |
2017-04 |
2017-12-29 |
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estimated to affect 1 in 30,000 males. |
system and occur almost exclusively in males. These conditions vary in severity |
corpus callosum hypoplasia, mental retardation, adducted thumbs, spastic |
GTR |
C0265216 |
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and include, from most severe to least, X-linked hydrocephalus with stenosis of |
paraplegia, hydrocephalus syndrome |
db |
key |
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the aqueduct of Sylvius (HSAS), MASA syndrome, spastic paraplegia type 1, and |
CRASH syndrome |
GTR |
C0795953 |
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X-linked complicated corpus callosum agenesis. |
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mental retardation-clasped thumb syndrome |
db |
key |
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html:p |
HSAS is an acronym for the characteristic features of the condition: a buildup |
X-linked hydrocephalus syndrome |
GTR |
C1839909 |
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of fluid in the brain (hydrocephalus) that is often present from before birth, |
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muscle stiffness (spasticity), thumbs that are permanently bent toward the palms |
GTR |
CN118845 |
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(adducted thumbs), and narrowing (stenosis) of a passageway in the brain called |
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the aqueduct of Sylvius. In individuals with HSAS, stenosis of the aqueduct of |
GeneReviews |
hsp |
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Sylvius causes hydrocephalus by impeding the flow of cerebrospinal fluid (CSF) |
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out of fluid-filled cavities called ventricles. Individuals with HSAS often have |
GeneReviews |
l1cam |
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severe intellectual disability and may have seizures. |
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html:p |
MASA syndrome is also named for the characteristic features of the condition, |
MeSH |
D015419 |
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which are intellectual disability (mental retardation) that can range from mild |
db |
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to moderate, delayed speech (aphasia), spasticity, and adducted thumbs. |
OMIM |
303350 |
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Individuals with MASA syndrome may have mild enlargement of the ventricles. |
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html:p |
Spastic paraplegia type 1 is characterized by progressive muscle stiffness |
OMIM |
304100 |
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(spasticity) and the development of paralysis of the limbs (paraplegia). |
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Affected individuals also have mild to moderate intellectual disability. People |
OMIM |
307000 |
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with spastic paraplegia type 1 do not usually have major abnormalities in |
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structures of the brain. |
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Orphanet |
2466 |
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html:p |
X-linked complicated corpus callosum agenesis is defined by underdevelopment |
db |
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(hypoplasia) or absence (agenesis) of the tissue that connects the left and |
Orphanet |
275543 |
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right halves of the brain (the corpus callosum). People with this condition can |
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have spastic paraplegia and mild to moderate intellectual disability. |
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SNOMED CT |
302882002 |
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html:p |
The life expectancy of individuals with L1 syndrome varies depending on the |
db |
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severity of the signs and symptoms. Severely affected individuals may survive |
SNOMED CT |
716996008 |
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only a short time after birth, while those with mild features live into |
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adulthood. |
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SNOMED CT |
71779008 |
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html:p |
The conditions that make up L1 syndrome were once thought to be distinct |
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disorders, but since they were found to share a genetic cause, they are now |
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considered to be part of the same syndrome. Family members with L1 syndrome |
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caused by the same mutation may have different forms of the condition. |
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related-gene-list |
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Lacrimo-auriculo-dento-digital syndrome |
https://ghr.nlm.nih.gov/condition/lacrimo-auriculo-dento-digital-syndrome |
LADD syndrome appears to be a rare condition; at least 60 cases have been |
html:p |
Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly |
ad |
autosomal dominant |
FGF10 |
https://ghr.nlm.nih.gov/gene/FGF10 |
lacrimoauriculodentodigital syndrome |
db |
key |
2013-06 |
2017-12-29 |
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described in the scientific literature. |
affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by |
related-gene |
gene-symbol |
ghr-page |
LADD syndrome |
GTR |
C0265269 |
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defects in the tear-producing lacrimal system (lacrimo-), ear problems |
FGFR2 |
https://ghr.nlm.nih.gov/gene/FGFR2 |
Levy-Hollister syndrome |
db |
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(auriculo-), dental abnormalities (dento-), and deformities of the fingers |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D019465 |
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(digital). |
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FGFR3 |
https://ghr.nlm.nih.gov/gene/FGFR3 |
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html:p |
The lacrimal system consists of structures in the eye that produce and secrete |
OMIM |
149730 |
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tears. Lacrimal system malformations that can occur with LADD syndrome include |
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an underdeveloped or absent opening to the tear duct at the edge of the eyelid |
Orphanet |
2363 |
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(lacrimal puncta) and blockage of the channel (nasolacrimal duct) that connects |
db |
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the inside corner of the eye where tears gather (tear sac) to the nasal cavity. |
SNOMED CT |
23817003 |
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These malformations of the lacrimal system can lead to chronic tearing |
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(epiphora), inflammation of the tear sac (dacryocystitis), inflammation of the |
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front surface of the eye (keratoconjunctivitis), or an inability to produce |
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tears. |
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html:p |
Ears that are low-set and described as cup-shaped, often accompanied by hearing |
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loss, are a common feature of LADD syndrome. The hearing loss may be mild to |
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severe and can be caused by changes in the inner ear (sensorineural deafness), |
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changes in the middle ear (conductive hearing loss), or both (mixed hearing |
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loss). |
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html:p |
People with LADD syndrome may have underdeveloped or absent salivary glands, |
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which impairs saliva production. A decrease in saliva leads to dry mouth |
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(xerostomia) and a greater susceptibility to cavities. Individuals with LADD |
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syndrome often have small, underdeveloped teeth with thin enamel and peg-shaped |
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front teeth (incisors). |
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html:p |
Hand deformities are also a frequent feature of LADD syndrome. Affected |
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individuals may have abnormally small or missing thumbs. Alternatively, the |
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thumb might be duplicated, fused with the index finger (syndactyly), abnormally |
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placed, or have three bones instead of the normal two and resemble a finger. |
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Abnormalities of the fingers include syndactyly of the second and third fingers, |
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extra or missing fingers, and curved pinky fingers (fifth finger clinodactyly). |
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Sometimes, the forearm is also affected. It can be shorter than normal with |
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abnormal wrist and elbow joint development that limits movement. |
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html:p |
People with LADD syndrome may also experience other signs and symptoms. They can |
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have kidney problems that include hardening of the kidneys (nephrosclerosis) |
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and urine accumulation in the kidneys (hydronephrosis), which can impair kidney |
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function. Recurrent urinary tract infections and abnormalities of the |
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genitourinary system can also occur. Some people with LADD syndrome have an |
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opening in the roof of the mouth (cleft palate) with or without a split in the |
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upper lip (cleft lip). The signs and symptoms of this condition vary widely, |
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even among affected family members. |
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related-gene-list |
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Lactate dehydrogenase deficiency |
https://ghr.nlm.nih.gov/condition/lactate-dehydrogenase-deficiency |
Lactate dehydrogenase deficiency is a rare disorder. In Japan, this |
html:p |
Lactate dehydrogenase deficiency is a condition that affects how the body breaks |
ar |
autosomal recessive |
LDHA |
https://ghr.nlm.nih.gov/gene/LDHA |
deficiency of lactate dehydrogenase |
db |
key |
2012-02 |
2017-12-29 |
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(Metabolic) |
condition affects 1 in 1 million individuals; the prevalence of lactate |
down sugar to use as energy in cells, primarily muscle cells. |
related-gene |
gene-symbol |
ghr-page |
lactate dehydrogenase subunit deficiencies |
GTR |
C1835592 |
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dehydrogenase deficiency in other countries is unknown. |
html:p |
There are two types of this condition: lactate dehydrogenase-A deficiency |
LDHB |
https://ghr.nlm.nih.gov/gene/LDHB |
LDH deficiency |
db |
key |
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(sometimes called glycogen storage disease XI) and lactate dehydrogenase-B |
GTR |
C2752022 |
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deficiency. |
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key |
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html:p |
People with lactate dehydrogenase-A deficiency experience fatigue, muscle pain, |
MeSH |
D002239 |
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and cramps during exercise (exercise intolerance). In some people with lactate |
db |
key |
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dehydrogenase-A deficiency, high-intensity exercise or other strenuous activity |
OMIM |
612933 |
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leads to the breakdown of muscle tissue (rhabdomyolysis). The destruction of |
db |
key |
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muscle tissue releases a protein called myoglobin, which is processed by the |
OMIM |
614128 |
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kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to |
db |
key |
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be red or brown. This protein can also damage the kidneys, in some cases |
Orphanet |
2364 |
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leading to life-threatening kidney failure. Some people with lactate |
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key |
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dehydrogenase-A deficiency develop skin rashes. The severity of the signs and |
SNOMED CT |
124115002 |
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symptoms among individuals with lactate dehydrogenase-A deficiency varies |
db |
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greatly. |
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SNOMED CT |
124116001 |
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html:p |
People with lactate dehydrogenase-B deficiency typically do not have any signs |
db |
key |
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or symptoms of the condition. They do not have difficulty with physical activity |
SNOMED CT |
124141008 |
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or any specific physical features related to the condition. Affected |
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individuals are usually discovered only when routine blood tests reveal reduced |
SNOMED CT |
237982007 |
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lactate dehydrogenase activity. |
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related-gene-list |
|
SNOMED CT |
55783001 |
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Lactose intolerance |
https://ghr.nlm.nih.gov/condition/lactose-intolerance |
Lactose intolerance in infancy resulting from congenital lactase deficiency |
html:p |
Lactose intolerance is an impaired ability to digest lactose, a sugar found in |
ad |
autosomal dominant |
LCT |
https://ghr.nlm.nih.gov/gene/LCT |
alactasia |
db |
key |
2010-05 |
2017-12-29 |
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乳糖不耐 |
|
is a rare disorder. Its incidence is unknown. This condition is most common in |
milk and other dairy products. Lactose is normally broken down by an enzyme |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
dairy product intolerance |
GTR |
C0268179 |
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Finland, where it affects an estimated 1 in 60,000 newborns.Approximately 65 |
called lactase, which is produced by cells in the lining of the small intestine. |
ar |
autosomal recessive |
MCM6 |
https://ghr.nlm.nih.gov/gene/MCM6 |
hypolactasia |
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percent of the human population has a reduced ability to digest lactose after |
html:p |
Congenital lactase deficiency, also called congenital alactasia, is a disorder |
lactose malabsorption |
GTR |
C0268181 |
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infancy. Lactose intolerance in adulthood is most prevalent in people of East |
in which infants are unable to break down lactose in breast milk or formula. |
milk sugar intolerance |
db |
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Asian descent, affecting more than 90 percent of adults in some of these |
This form of lactose intolerance results in severe diarrhea. If affected infants |
ICD-10-CM |
E73 |
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communities. Lactose intolerance is also very common in people of West African, |
are not given a lactose-free infant formula, they may develop severe |
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Arab, Jewish, Greek, and Italian descent.The prevalence of lactose intolerance |
dehydration and weight loss. |
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ICD-10-CM |
E73.0 |
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is lowest in populations with a long history of dependence on unfermented milk |
html:p |
Lactose intolerance in adulthood is caused by reduced production of lactase |
db |
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products as an important food source. For example, only about 5 percent of |
after infancy (lactase nonpersistence). If individuals with lactose intolerance |
ICD-10-CM |
E73.1 |
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people of Northern European descent are lactose intolerant. |
consume lactose-containing dairy products, they may experience abdominal pain, |
db |
key |
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bloating, flatulence, nausea, and diarrhea beginning 30 minutes to 2 hours |
ICD-10-CM |
E73.8 |
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later. |
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key |
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html:p |
Most people with lactase nonpersistence retain some lactase activity and can |
ICD-10-CM |
E73.9 |
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include varying amounts of lactose in their diets without experiencing symptoms. |
db |
key |
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Often, affected individuals have difficulty digesting fresh milk but can eat |
|
MeSH |
D007787 |
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certain dairy products such as cheese or yogurt without discomfort. These foods |
db |
key |
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are made using fermentation processes that break down much of the lactose in |
OMIM |
223000 |
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milk. |
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db |
key |
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OMIM |
223100 |
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db |
key |
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SNOMED CT |
267425008 |
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db |
key |
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SNOMED CT |
38032004 |
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related-gene-list |
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SNOMED CT |
5388008 |
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Lafora progressive myoclonus epilepsy |
https://ghr.nlm.nih.gov/condition/lafora-progressive-myoclonus-epilepsy |
The prevalence of Lafora progressive myoclonus epilepsy is unknown. |
html:p |
Lafora progressive myoclonus epilepsy is a brain disorder characterized by |
ar |
autosomal recessive |
EPM2A |
https://ghr.nlm.nih.gov/gene/EPM2A |
epilepsy, progressive myoclonic, Lafora |
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2016-08 |
2017-12-29 |
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肌陣攣性癲癇 |
Although the condition occurs worldwide, it appears to be most common in |
recurrent seizures (epilepsy) and a decline in intellectual function. The signs |
related-gene |
gene-symbol |
ghr-page |
Lafora body disease |
GTR |
C0751783 |
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Lafora |
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Mediterranean countries (including Spain, France, and Italy), parts of Central |
and symptoms of the disorder usually appear in late childhood or adolescence and |
NHLRC1 |
https://ghr.nlm.nih.gov/gene/NHLRC1 |
Lafora disease |
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Asia, India, Pakistan, North Africa, and the Middle East. |
worsen with time. |
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Lafora progressive myoclonic epilepsy |
GeneReviews |
lafora |
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html:p |
Myoclonus is a term used to describe episodes of sudden, involuntary muscle |
Lafora type progressive myoclonic epilepsy |
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jerking or twitching that can affect part of the body or the entire body. |
myoclonic epilepsy of Lafora |
MeSH |
D020192 |
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Myoclonus can occur when an affected person is at rest, and it is made worse by |
progressive myoclonic epilepsy type 2 |
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motion, excitement, or flashing light (photic stimulation). In the later stages |
progressive myoclonus epilepsy, Lafora type |
OMIM |
254780 |
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of Lafora progressive myoclonus epilepsy, myoclonus often occurs continuously |
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and affects the entire body. |
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Orphanet |
501 |
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html:p |
Several types of seizures commonly occur in people with Lafora progressive |
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myoclonus epilepsy. Generalized tonic-clonic seizures (also known as grand mal |
SNOMED CT |
230425004 |
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seizures) affect the entire body, causing muscle rigidity, convulsions, and loss |
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of consciousness. Affected individuals may also experience occipital seizures, |
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which can cause temporary blindness and visual hallucinations. Over time, the |
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seizures worsen and become more difficult to treat. A life-threatening seizure |
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condition called status epilepticus may also develop. Status epilepticus is a |
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continuous state of seizure activity lasting longer than several minutes. |
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html:p |
About the same time seizures begin, intellectual function starts to decline. |
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Behavioral changes, depression, confusion, and speech difficulties (dysarthria) |
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are among the early signs and symptoms of this disorder. As the condition |
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worsens, a continued loss of intellectual function (dementia) impairs memory, |
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judgment, and thought. Affected people lose the ability to perform the |
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activities of daily living by their mid-twenties, and they ultimately require |
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comprehensive care. People with Lafora progressive myoclonus epilepsy generally |
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survive up to 10 years after symptoms first appear. |
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related-gene-list |
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Laing distal myopathy |
https://ghr.nlm.nih.gov/condition/laing-distal-myopathy |
Although Laing distal myopathy is thought to be rare, its prevalence is |
html:p |
Laing distal myopathy is a condition that affects skeletal muscles, which are |
ad |
autosomal dominant |
MYH7 |
https://ghr.nlm.nih.gov/gene/MYH7 |
distal myopathy 1 |
db |
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2016-12 |
2017-12-29 |
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(Muscle) |
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unknown. Several families with the condition have been identified worldwide. |
muscles that the body uses for movement. This disorder causes progressive |
Laing early-onset distal myopathy |
GTR |
CN074249 |
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muscle weakness that appears in childhood. The first sign of Laing distal |
MPD1 |
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myopathy is usually weakness in certain muscles in the feet and ankles. This |
GeneReviews |
mpd1 |
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weakness leads to tightening of the Achilles tendon (the band that connects the |
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heel of the foot to the calf muscles), an inability to lift the first (big) toe, |
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MeSH |
D049310 |
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and a high-stepping walk. Months to years later, muscle weakness develops in |
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the hands and wrists. Weakness in these muscles makes it difficult to lift the |
OMIM |
160500 |
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fingers, particularly the third and fourth fingers. Many affected people also |
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experience hand tremors. |
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Orphanet |
59135 |
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html:p |
In addition to muscle weakness in the hands and feet, Laing distal myopathy |
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causes weakness in several muscles of the neck and face. A decade or more after |
SNOMED CT |
193230001 |
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the onset of symptoms, mild weakness also spreads to muscles in the legs, hips, |
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and shoulders. Laing distal myopathy progresses very gradually, and most |
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affected people remain mobile throughout life. Life expectancy is normal in |
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people with this condition. |
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inheritance-pattern-list |
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LAMA2-related muscular dystrophy |
https://ghr.nlm.nih.gov/condition/lama2-related-muscular-dystrophy |
The prevalence of early-onset LAMA2-related muscular dystrophy is estimated |
html:p |
LAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition generally app |
ar |
related-gene |
ghr-page |
synonym |
LAMA2 MD |
db-key |
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2013-09 |
2017-12-29 |
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(Muscle) |
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at 1 in 30,000 individuals. This condition accounts for between 30 and 40 |
ears in one of two ways: as a severe, early-onset type |
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https://ghr.nlm.nih.gov/gene/LAMA2 |
synonym |
laminin alpha 2 deficiency |
GTR |
C1263858 |
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percent of total cases of congenital muscular dystrophy, although its |
or a milder, late-onset form. |
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synonym |
laminin alpha-2 deficient muscular dystrophy |
db-key |
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contribution may be higher or lower than this range in specific populations. |
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synonym |
MDC1A |
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GTR |
C1842898 |
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Late-onset LAMA2-related muscular dystrophy is rare; its prevalence is unknown. |
html:p |
Early-onset LAMA2-related muscular dystrophy is apparent at birth |
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synonym |
merosin-deficient muscular dystrophy |
db-key |
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or within the first few months of life. It is considered part |
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synonym |
muscular dystrophy due to LAMA2 deficiency |
GeneReviews |
mdef-cmd |
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of a class of muscle disorders called congenital muscular dystrophies |
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db-key |
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and is sometimes called congenital muscular dystrophy type 1A. |
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MeSH |
D009136 |
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Affected infants have severe muscle weakness, lack of muscle tone (hypotonia), |
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db-key |
db |
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little spontaneous movement, and joint deformities (contractures). Weakness of |
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OMIM |
607855 |
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the muscles in the face and throat can result in feeding difficulties and an inability to |
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grow and gain weight at the expected rate (failure to thrive). Hypotonia also affects the muscles |
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Orphanet |
258 |
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used for breathing, which causes a weak cry and breathing problems that can lead to frequent, |
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potentially life-threatening lung infections. |
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SNOMED CT |
111503008 |
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html:p |
As affected children grow, they often develop an abnormal, gradually worsening side-to-side |
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curvature of the spine (scoliosis) and inward curvature of the back (lordosis). Children with |
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early-onset LAMA2-related muscular dystrophy usually do not learn to walk unassisted. |
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Speech problems may result from weakness of the facial muscles and tongue, but |
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intelligence is usually normal. Heart problems and seizures occasionally occur in |
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early-onset LAMA2-related muscular dystrophy. Because of the serious health problems |
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that occur in this form of the disorder, many affected individuals do not survive past adolescence. |
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Late-onset LAMA2-related muscular dystrophy occurs later in childhood or in adulthood. |
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html:p |
Signs and symptoms of this form of the disorder are milder than in the early-onset type |
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and are similar to those of a group of muscle disorders classified as limb-girdle muscular |
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dystrophies. In late-onset LAMA2-related muscular dystrophy, the muscles most affected |
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are those closest to the body (proximal muscles), specifically the muscles of the shoulders, |
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upper arms, pelvic area, and thighs. Children with late-onset LAMA2-related muscular |
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dystrophy sometimes have delayed development of motor skills such as walking, but generally |
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achieve the ability to walk without assistance. Over time, they may develop rigidity of the back, |
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joint contractures, scoliosis, and breathing problems. However, most affected individuals retain |
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the ability to walk and climb stairs, and life expectancy and intelligence are usually not affected |
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in late-onset LAMA2-related muscular dystrophy. |
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related-gene-list |
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Lamellar ichthyosis |
https://ghr.nlm.nih.gov/condition/lamellar-ichthyosis |
Lamellar ichthyosis is estimated to affect 1 in 100,000 individuals in the |
html:p |
Lamellar ichthyosis is a condition that mainly affects the skin. Infants with |
ar |
autosomal recessive |
ABCA12 |
https://ghr.nlm.nih.gov/gene/ABCA12 |
collodion baby |
db |
key |
2015-03 |
2017-12-29 |
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膠膜兒 |
|
United States. This condition is more common in Norway, where an estimated 1 in |
this condition are typically born with a tight, clear sheath covering their skin |
related-gene |
gene-symbol |
ghr-page |
collodion baby syndrome |
GTR |
C0020758 |
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ichthyoses, lamellar |
91,000 individuals are affected. |
called a collodion membrane. This membrane usually dries and peels off during |
CYP4F22 |
https://ghr.nlm.nih.gov/gene/CYP4F22 |
ichthyoses, lamellar |
db |
key |
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層狀魚鱗癬(自體隱性遺傳型) |
the first few weeks of life, and then it becomes obvious that affected babies |
related-gene |
gene-symbol |
ghr-page |
ichthyosis, lamellar |
GTR |
C1832550 |
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have scaly skin, and eyelids and lips that are turned outward. People with |
LIPN |
https://ghr.nlm.nih.gov/gene/LIPN |
LI |
db |
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lamellar ichthyosis typically have large, dark, plate-like scales covering their |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1847849 |
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skin on most of their body. Infants with lamellar ichthyosis may develop |
NIPAL4 |
https://ghr.nlm.nih.gov/gene/NIPAL4 |
db |
key |
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infections, an excessive loss of fluids (dehydration), and respiratory problems. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1858142 |
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Affected individuals may also have hair loss (alopecia), abnormally formed |
TGM1 |
https://ghr.nlm.nih.gov/gene/TGM1 |
db |
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fingernails and toenails (nail dystrophy), a decreased ability to sweat |
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GTR |
C3151377 |
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(hypohidrosis), an increased sensitivity to heat, and a thickening of the skin |
db |
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on the palms of the hands and soles of the feet (keratoderma). Less frequently, |
GeneReviews |
li-ar |
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affected individuals have reddened skin (erythema) and joint deformities |
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db |
key |
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(contractures). |
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ICD-10-CM |
Q80.2 |
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db |
key |
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MeSH |
D017490 |
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db |
key |
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OMIM |
242300 |
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db |
key |
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OMIM |
601277 |
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db |
key |
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OMIM |
604777 |
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db |
key |
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OMIM |
606545 |
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db |
key |
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Orphanet |
313 |
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db |
key |
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SNOMED CT |
205550003 |
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db |
key |
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SNOMED CT |
254163001 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
403777006 |
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Langer mesomelic dysplasia |
https://ghr.nlm.nih.gov/condition/langer-mesomelic-dysplasia |
The prevalence of Langer mesomelic dysplasia is unknown, although the |
html:p |
Langer mesomelic dysplasia is a disorder of bone growth. Affected individuals |
ar |
autosomal recessive |
SHOX |
https://ghr.nlm.nih.gov/gene/SHOX |
dyschondrosteosis homozygous |
db |
key |
2012-01 |
2017-12-29 |
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condition appears to be rare. Several dozen affected individuals have been |
typically have extreme shortening of the long bones in the arms and legs |
code |
memo |
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Langer mesomelic dwarfism |
GTR |
C0432230 |
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reported in the scientific literature. |
(mesomelia). As a result of the shortened leg bones, people with Langer |
xr |
X-linked recessive |
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LMD |
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key |
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mesomelic dysplasia have very short stature. A bone in the forearm called the |
mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type |
MeSH |
D009139 |
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ulna and a bone in the lower leg called the fibula are often underdeveloped or |
db |
key |
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absent, while other bones in the forearm (the radius) and lower leg (the tibia) |
OMIM |
249700 |
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are unusually short, thick, and curved. Some people with Langer mesomelic |
db |
key |
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dysplasia also have an abnormality of the wrist and forearm bones called |
Orphanet |
2632 |
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Madelung deformity, which may cause pain and limit wrist movement. Additionally, |
db |
key |
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some affected individuals have mild underdevelopment of the lower jaw bone |
SNOMED CT |
38494008 |
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(mandible). |
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related-gene-list |
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Langerhans cell histiocytosis |
https://ghr.nlm.nih.gov/condition/langerhans-cell-histiocytosis |
Langerhans cell histiocytosis is a rare disorder. Its prevalence is |
html:p |
Langerhans cell histiocytosis is a disorder in which excess immune system cells |
u |
pattern unknown |
BRAF |
https://ghr.nlm.nih.gov/gene/BRAF |
Hashimoto-Pritzger disease |
db |
key |
2017-10 |
2017-12-29 |
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朗格汉斯组织细胞增多症 |
estimated at 1 to 2 in 100,000 people. |
called Langerhans cells build up in the body. Langerhans cells, which help |
related-gene |
gene-symbol |
ghr-page |
histiocytosis X |
GTR |
C0019621 |
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regulate the immune system, are normally found throughout the body, especially |
MAP2K1 |
https://ghr.nlm.nih.gov/gene/MAP2K1 |
Langerhans cell granulomatosis |
db |
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in the skin, lymph nodes, spleen, lungs, liver, and bone marrow. In Langerhans |
related-gene |
gene-symbol |
ghr-page |
LCH |
ICD-10-CM |
C96.0 |
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cell histiocytosis, excess immature Langerhans cells usually form tumors called |
MAP3K1 |
https://ghr.nlm.nih.gov/gene/MAP3K1 |
db |
key |
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granulomas. Many researchers now consider Langerhans cell histiocytosis to be a |
ICD-10-CM |
C96.5 |
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form of cancer, but this classification remains controversial. |
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key |
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html:p |
In approximately 80 percent of affected individuals, one or more granulomas |
ICD-10-CM |
C96.6 |
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develop in the bones, causing pain and swelling. The granulomas, which usually |
db |
key |
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occur in the skull or the long bones of the arms or legs, may cause the bone to |
ICD-10-CM |
J84.82 |
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fracture. |
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db |
key |
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html:p |
Granulomas also frequently occur in the skin, appearing as blisters, reddish |
MeSH |
D006646 |
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bumps, or rashes which can be mild to severe. The pituitary gland may also be |
db |
key |
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affected; this gland is located at the base of the brain and produces hormones |
OMIM |
604856 |
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that control many important body functions. Without hormone supplementation, |
db |
key |
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affected individuals may experience delayed or absent puberty or an inability to |
Orphanet |
389 |
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have children (infertility). In addition, pituitary gland damage may result in |
db |
key |
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the production of excessive amounts of urine (diabetes insipidus) and |
|
SNOMED CT |
65399007 |
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dysfunction of another gland called the thyroid. Thyroid dysfunction can affect |
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the rate of chemical reactions in the body (metabolism), body temperature, skin |
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and hair texture, and behavior. |
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html:p |
In 15 to 20 percent of cases, Langerhans cell histiocytosis affects the lungs, |
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liver, or blood-forming (hematopoietic) system; damage to these organs and |
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tissues may be life-threatening. Lung involvement, which appears as swelling of |
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the small airways (bronchioles) and blood vessels of the lungs, results in |
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stiffening of the lung tissue, breathing problems, and increased risk of |
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infection. Hematopoietic involvement, which occurs when the Langerhans cells |
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crowd out blood-forming cells in the bone marrow, leads to a general reduction |
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in the number of blood cells (pancytopenia). Pancytopenia results in fatigue due |
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to low numbers of red blood cells (anemia), frequent infections due to low |
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numbers of white blood cells (neutropenia), and clotting problems due to low |
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numbers of platelets (thrombocytopenia). |
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html:p |
Other signs and symptoms that may occur in Langerhans cell histiocytosis, |
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depending on which organs and tissues have Langerhans cell deposits, include |
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swollen lymph nodes, abdominal pain, yellowing of the skin and whites of the |
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eyes (jaundice), delayed puberty, protruding eyes, dizziness, irritability, and |
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seizures. About 1 in 50 affected individuals experience deterioration of |
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neurological function (neurodegeneration). |
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html:p |
Langerhans cell histiocytosis is often diagnosed in childhood, usually between |
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ages 2 and 3, but can appear at any age. Most individuals with adult-onset |
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Langerhans cell histiocytosis are current or past smokers; in about two-thirds |
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of adult-onset cases the disorder affects only the lungs. |
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html:p |
The severity of Langerhans cell histiocytosis, and its signs and symptoms, vary |
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widely among affected individuals. Certain presentations or forms of the |
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disorder were formerly considered to be separate diseases. Older names that were |
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sometimes used for forms of Langerhans cell histiocytosis include eosinophilic |
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granuloma, Hand-Schüller-Christian disease, and Letterer-Siwe disease. |
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html:p |
In many people with Langerhans cell histiocytosis, the disorder eventually goes |
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away with appropriate treatment. It may even disappear on its own, especially if |
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the disease occurs only in the skin. However, some complications of the |
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condition, such as diabetes insipidus or other effects of tissue and organ |
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damage, may be permanent. |
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related-gene-list |
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Laron syndrome |
https://ghr.nlm.nih.gov/condition/laron-syndrome |
Laron syndrome is a rare disorder. About 350 people have been diagnosed |
html:p |
Laron syndrome is a rare form of short stature that results from the body's |
ad |
autosomal dominant |
GHR |
https://ghr.nlm.nih.gov/gene/GHR |
GH-R deficiency |
db |
key |
2015-04 |
2017-12-29 |
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Laron氏症候群 |
with the condition worldwide. The largest single group of affected individuals |
inability to use growth hormone, a substance produced by the brain's pituitary |
code |
memo |
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growth hormone insensitivity syndrome |
GTR |
C0271568 |
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Laron dwarfism |
(about 100 people) lives in an area of southern Ecuador. |
gland that helps promote growth. Affected individuals are close to normal size |
ar |
autosomal recessive |
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growth hormone receptor defect |
db |
key |
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Laron氏侏儒症候群 |
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at birth, but they experience slow growth from early childhood that results in |
growth hormone receptor deficiency |
ICD-10-CM |
E34.3 |
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very short stature. If the condition is not treated, adult males typically reach |
Laron dwarfism |
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a maximum height of about 4.5 feet; adult females may be just over 4 feet tall. |
Laron-type dwarfism |
MeSH |
D046150 |
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html:p |
Other features of untreated Laron syndrome include reduced muscle strength and |
Laron-type isolated somatotropin defect |
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key |
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endurance, low blood sugar levels (hypoglycemia) in infancy, small genitals and |
Laron-type pituitary dwarfism |
OMIM |
262500 |
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delayed puberty, hair that is thin and fragile, and dental abnormalities. Many |
Laron-type short stature |
db |
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affected individuals have a distinctive facial appearance, including a |
pituitary dwarfism II |
Orphanet |
633 |
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protruding forehead, a sunken bridge of the nose (saddle nose), and a blue tint |
primary GH resistance |
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key |
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to the whites of the eyes (blue sclerae). Affected individuals have short limbs |
primary growth hormone resistance |
SNOMED CT |
38196001 |
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compared to the size of their torso, as well as small hands and feet. Adults |
severe GH insensitivity |
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with this condition tend to develop obesity. However, the signs and symptoms of |
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Laron syndrome vary, even among affected members of the same family. |
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html:p |
Studies suggest that people with Laron syndrome have a significantly reduced |
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risk of cancer and type 2 diabetes. Affected individuals appear to develop these |
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common diseases much less frequently than their unaffected relatives, despite |
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having obesity (a risk factor for both cancer and type 2 diabetes). However, |
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people with Laron syndrome do not seem to have an increased lifespan compared |
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with their unaffected relatives. |
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related-gene-list |
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Larsen syndrome |
https://ghr.nlm.nih.gov/condition/larsen-syndrome |
Larsen syndrome occurs in approximately 1 in 100,000 newborns. |
html:p |
Larsen syndrome is a disorder that affects the development of bones throughout |
ad |
autosomal dominant |
FLNB |
https://ghr.nlm.nih.gov/gene/FLNB |
LRS |
db |
key |
2011-09 |
2017-12-29 |
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Larsen氏症候群 (顎裂-先天性脫位症候群) |
the body. The signs and symptoms of Larsen syndrome vary widely even within the |
GTR |
C0175778 |
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same family. Affected individuals are usually born with inward- and |
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upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. |
GTR |
C1835564 |
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They generally have small extra bones in their wrists and ankles that are |
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visible on x-ray images. The tips of their fingers, especially the thumbs, are |
GeneReviews |
flnb-dis |
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typically blunt and square-shaped (spatulate). |
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html:p |
People with Larsen syndrome may also have an unusually large range of joint |
MeSH |
D010009 |
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movement (hypermobility) and short stature. They can also have abnormal |
db |
key |
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curvature of the spine (kyphosis or scoliosis) that may compress the spinal cord |
OMIM |
150250 |
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and lead to weakness of the limbs. |
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db |
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html:p |
Characteristic facial features include a prominent forehead (frontal bossing), |
OMIM |
245600 |
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flattening of the bridge of the nose and of the middle of the face (midface |
db |
key |
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hypoplasia), and wide-set eyes (ocular hypertelorism). Some people with Larsen |
Orphanet |
503 |
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syndrome have an opening in the roof of the mouth (a cleft palate) or hearing |
db |
key |
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loss caused by malformations in the tiny bones in the ears (ossicles). Some |
SNOMED CT |
63387002 |
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affected individuals experience respiratory problems as a result of weakness of |
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the airways that can lead to partial closing, short pauses in breathing (apnea), |
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and frequent respiratory infections. People with Larsen syndrome can survive |
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into adulthood and intelligence is unaffected. |
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related-gene-list |
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Laryngo-onycho-cutaneous syndrome |
https://ghr.nlm.nih.gov/condition/laryngo-onycho-cutaneous-syndrome |
LOC syndrome is a rare disorder that primarily affects families of Punjabi |
html:p |
Laryngo-onycho-cutaneous (LOC) syndrome is a disorder that leads to |
ar |
autosomal recessive |
LAMA3 |
https://ghr.nlm.nih.gov/gene/LAMA3 |
JEB-LOC |
db |
key |
2014-09 |
2017-12-29 |
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background from India and Pakistan, although the condition has also been |
abnormalities of the voicebox (laryngo-), finger- and toenails (onycho-), and |
laryngoonychocutaneous syndrome |
GTR |
C1328355 |
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reported in one family from Iran. |
skin (cutaneous). Many of the condition's signs and symptoms are related to the |
LOC syndrome |
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abnormal growth of granulation tissue in different parts of the body. This red, |
LOCS |
MeSH |
D016109 |
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bumpy tissue is normally produced during wound healing and is usually replaced |
LOGIC syndrome |
db |
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by skin cells as healing continues. However, in people with LOC syndrome, this |
Shabbir syndrome |
OMIM |
245660 |
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tissue grows even when there is no major injury. |
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db |
key |
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html:p |
One of the first symptoms in infants with LOC syndrome is a hoarse cry due to |
Orphanet |
2407 |
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ulcers or overgrowth of granulation tissue in the voicebox (the larynx). Excess |
db |
key |
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granulation tissue can also block the airways, leading to life-threatening |
SNOMED CT |
722675000 |
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breathing problems; as a result many affected individuals do not survive past |
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childhood. |
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In LOC syndrome, granulation tissue also grows in the eyes, specifically the |
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conjunctiva, which are the moist tissues that line the eyelids and the white |
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part of the eyes. Affected individuals often have impairment or complete loss of |
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vision due to the tissue overgrowth. |
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html:p |
Another common feature of LOC syndrome is missing patches of skin (cutaneous |
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erosions). The erosions heal slowly and may become infected. People with LOC |
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syndrome can also have malformed nails and small, abnormal teeth. The hard, |
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white material that forms the protective outer layer of each tooth (enamel) is |
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thin, which contributes to frequent cavities. |
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html:p |
LOC syndrome is typically considered a subtype of another skin condition called |
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junctional epidermolysis bullosa, which is characterized by fragile skin that |
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blisters easily. While individuals with junctional epidermolysis bullosa can |
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have some of the features of LOC syndrome, they do not usually have overgrowth |
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of granulation tissue in the conjunctiva. |
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related-gene-list |
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Lateral meningocele syndrome |
https://ghr.nlm.nih.gov/condition/lateral-meningocele-syndrome |
Lateral meningocele syndrome is a very rare disorder. Only a small number |
html:p |
Lateral meningocele syndrome is a disorder that affects the nervous system, the |
ad |
autosomal dominant |
NOTCH3 |
https://ghr.nlm.nih.gov/gene/NOTCH3 |
Lehman syndrome |
db |
key |
2016-08 |
2017-12-29 |
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of cases have been described in the medical literature. |
bones and muscles, and other body systems. The condition is characterized by |
LMS |
GTR |
C1851710 |
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abnormalities known as lateral meningoceles. Lateral meningoceles are |
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key |
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protrusions of the membranes surrounding the spinal cord (known as the meninges) |
GeneReviews |
lms |
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through gaps in the bones of the spine (vertebrae). The protrusions are most |
db |
key |
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common and typically larger in the lower spine. |
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MeSH |
D000015 |
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html:p |
The meningoceles associated with this disorder may damage the nerves that spread |
db |
key |
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from the spine to the rest of the body. Damage to the nerves that control |
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MeSH |
D008588 |
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bladder function, a condition called neurogenic bladder, causes affected |
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individuals to have progressive difficulty controlling the flow of urine. |
|
OMIM |
130720 |
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Prickling or tingling sensations (paresthesias), progressive stiffness and |
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weakness in the legs (paraparesis), and back pain can also occur. Delayed |
Orphanet |
2789 |
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development of motor skills in infancy, such as sitting and crawling, often |
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key |
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occurs in this disorder; intelligence is usually unaffected. |
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SNOMED CT |
253166000 |
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html:p |
Other features of lateral meningocele syndrome can include low muscle tone |
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(hypotonia) during infancy, decreased muscle bulk, loose (hyperextensible) |
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joints that can lead to dislocations, and protrusion of organs through gaps in |
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muscles (hernias). Spinal abnormalities are also common, including side-to-side |
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curvature of the spine (scoliosis), abnormal joining (fusion) of two or more |
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vertebrae, and vertebrae that are unusually shaped (scalloped). |
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html:p |
People with lateral meningocele syndrome typically have a particular pattern of |
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facial features that may include high arched eyebrows, widely spaced eyes |
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(hypertelorism), outside corners of the eyes that point downward (downslanting |
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palpebral fissures), and droopy eyelids (ptosis). Affected individuals may have |
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a flat appearance of the middle of the face and cheekbones (midface and malar |
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hypoplasia); low-set ears; a long area between the nose and mouth (long |
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philtrum); a thin upper lip; a high, narrow roof of the mouth, occasionally with |
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an abnormal opening (a cleft palate); a small jaw (micrognathia); coarse hair; |
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and a low hairline at the back of the neck. |
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html:p |
Other signs and symptoms that can occur in lateral meningocele syndrome include |
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a high and nasal voice, hearing loss, abnormalities of the heart or the |
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genitourinary system, poor feeding, difficulty swallowing (dysphagia), and |
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backflow of stomach acids into the esophagus (called gastroesophageal reflux or |
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GERD). |
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related-gene-list |
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Lattice corneal dystrophy type I |
https://ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-i |
Lattice corneal dystrophy type I is one of the most common disorders in a |
html:p |
Lattice corneal dystrophy type I is an eye disorder that affects the clear, |
ad |
autosomal dominant |
TGFBI |
https://ghr.nlm.nih.gov/gene/TGFBI |
Biber-Haab-Dimmer dystrophy |
db |
key |
2012-04 |
2017-12-29 |
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(Eyes) |
|
group of conditions that are characterized by protein deposits in the cornea |
outer covering of the eye called the cornea. The cornea must remain clear for an |
GTR |
C1690006 |
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(corneal dystrophies); however, it is still a rare condition. The prevalence of |
individual to see properly; however, in lattice corneal dystrophy type I, |
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key |
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lattice corneal dystrophy type I is unknown. |
protein clumps known as amyloid deposits cloud the cornea, which leads to vision |
ICD-10-CM |
H18.54 |
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impairment. The cornea is made up of several layers of tissue, and in lattice |
db |
key |
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corneal dystrophy type I, the deposits form in the stromal layer. The amyloid |
MeSH |
D003317 |
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deposits form as delicate, branching fibers that create a lattice pattern. |
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key |
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Affected individuals often have recurrent corneal erosions, which are caused by |
OMIM |
122200 |
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separation of particular layers of the cornea from one another. Corneal erosions |
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are very painful and can cause sensitivity to bright light (photophobia). |
SNOMED CT |
419197009 |
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Lattice corneal dystrophy type I is usually bilateral, which means it affects |
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both eyes. The condition becomes apparent in childhood or adolescence and leads |
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to vision problems by early adulthood. |
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related-gene-list |
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Lattice corneal dystrophy type II |
https://ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-ii |
Lattice corneal dystrophy type II is a rare condition; however, the |
html:p |
Lattice corneal dystrophy type II is characterized by an accumulation of protein |
ad |
autosomal dominant |
GSN |
https://ghr.nlm.nih.gov/gene/GSN |
amyloid cranial neuropathy with lattice corneal dystrophy |
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2012-04 |
2017-12-29 |
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(Eyes) |
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prevalence is unknown. While this condition can be found in populations |
clumps called amyloid deposits in tissues throughout the body. The deposits |
amyloidosis due to mutant gelsolin |
GTR |
C1622345 |
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worldwide, it was first described in Finland and is more common there. |
frequently occur in blood vessel walls and basement membranes, which are thin, |
amyloidosis V |
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sheet-like structures that separate and support cells in many tissues. Amyloid |
amyloidosis, Finnish type |
ICD-10-CM |
H18.54 |
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deposits lead to characteristic signs and symptoms involving the eyes, nerves, |
amyloidosis, Meretoja type |
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and skin that worsen with age. |
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familial amyloid polyneuropathy type IV |
MeSH |
D028226 |
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The earliest sign of this condition, which is usually identified in a person's |
familial amyloidosis, Finnish type |
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twenties, is accumulation of amyloid deposits in the cornea (lattice corneal |
gelsolin-related amyloidosis |
OMIM |
105120 |
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dystrophy). The cornea is the clear, outer covering of the eye. It is made up of |
Kymenlaakso syndrome |
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several layers of tissue, and in lattice corneal dystrophy type II, the amyloid |
lattice corneal dystrophy, gelsolin type |
SNOMED CT |
419087002 |
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deposits form in the stromal layer. The amyloid deposits form as delicate, |
Meretoja syndrome |
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branching fibers that create a lattice pattern. Because these protein deposits |
SNOMED CT |
419398009 |
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cloud the cornea, they often lead to vision impairment. In addition, affected |
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individuals can have recurrent corneal erosions, which are caused by separation |
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of particular layers of the cornea from one another. Corneal erosions are very |
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painful and can cause sensitivity to bright light (photophobia). Amyloid |
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deposits and corneal erosions are usually bilateral, which means they affect |
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both eyes. |
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html:p |
As lattice corneal dystrophy type II progresses, the nerves become involved, |
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typically starting in a person's forties. It is thought that the amyloid |
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deposits disrupt nerve function. Dysfunction of the nerves in the head and face |
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(cranial nerves) can cause paralysis of facial muscles (facial palsy); decreased |
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sensations in the face (facial hypoesthesia); and difficulty speaking, chewing, |
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and swallowing. Dysfunction of the nerves that connect the brain and spinal |
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cord to muscles and to sensory cells that detect sensations such as touch, pain, |
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and heat (peripheral nerves) can cause loss of sensation and weakness in the |
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limbs (peripheral neuropathy). Peripheral neuropathy usually occurs in the lower |
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legs and arms, leading to muscle weakness, clumsiness, and difficulty sensing |
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vibrations. |
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html:p |
The skin is also commonly affected in people with lattice corneal dystrophy type |
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II, typically beginning in a person's forties. People with this condition may |
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have thickened, sagging skin, especially on the scalp and forehead, and a |
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condition called cutis laxa, which is characterized by loose skin that lacks |
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elasticity. The skin can also be dry and itchy. Because of loose skin and muscle |
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paralysis in the face, individuals with lattice corneal dystrophy type II can |
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have a facial expression that appears sad. |
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related-gene-list |
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Leber congenital amaurosis, LCA |
https://ghr.nlm.nih.gov/condition/leber-congenital-amaurosis |
Leber congenital amaurosis occurs in 2 to 3 per 100,000 newborns. It is one |
html:p |
Leber congenital amaurosis is an eye disorder that primarily affects the retina, |
ad |
autosomal dominant |
AIPL1 |
https://ghr.nlm.nih.gov/gene/AIPL1 |
amaurosis, Leber congenital |
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key |
2010-08 |
2017-12-29 |
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萊伯氏先天性黑矇 |
of the most common causes of blindness in children. |
which is the specialized tissue at the back of the eye that detects light and |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
congenital amaurosis of retinal origin |
GTR |
C0339527 |
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color. People with this disorder typically have severe visual impairment |
ar |
autosomal recessive |
CEP290 |
https://ghr.nlm.nih.gov/gene/CEP290 |
congenital retinal blindness |
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beginning in infancy. The visual impairment tends to be stable, although it may |
related-gene |
gene-symbol |
ghr-page |
CRB |
GTR |
C1837873 |
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worsen very slowly over time. |
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CRB1 |
https://ghr.nlm.nih.gov/gene/CRB1 |
dysgenesis neuroepithelialis retinae |
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html:p |
Leber congenital amaurosis is also associated with other vision problems, |
related-gene |
gene-symbol |
ghr-page |
hereditary epithelial dysplasia of retina |
GTR |
C1840284 |
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including an increased sensitivity to light (photophobia), involuntary movements |
CRX |
https://ghr.nlm.nih.gov/gene/CRX |
hereditary retinal aplasia |
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of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, |
related-gene |
gene-symbol |
ghr-page |
heredoretinopathia congenitalis |
GTR |
C1854260 |
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which usually expand and contract in response to the amount of light entering |
GUCY2D |
https://ghr.nlm.nih.gov/gene/GUCY2D |
LCA |
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the eye, do not react normally to light. Instead, they expand and contract more |
related-gene |
gene-symbol |
ghr-page |
Leber abiotrophy |
GTR |
C1857743 |
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slowly than normal, or they may not respond to light at all. Additionally, the |
IMPDH1 |
https://ghr.nlm.nih.gov/gene/IMPDH1 |
Leber congenital tapetoretinal degeneration |
db |
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clear front covering of the eye (the cornea) may be cone-shaped and abnormally |
related-gene |
gene-symbol |
ghr-page |
Leber's amaurosis |
GTR |
C1857821 |
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thin, a condition known as keratoconus. |
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IQCB1 |
https://ghr.nlm.nih.gov/gene/IQCB1 |
db |
key |
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html:p |
A specific behavior called Franceschetti's oculo-digital sign is characteristic |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1858301 |
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of Leber congenital amaurosis. This sign consists of poking, pressing, and |
LCA5 |
https://ghr.nlm.nih.gov/gene/LCA5 |
db |
key |
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rubbing the eyes with a knuckle or finger. Researchers suspect that this |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1858386 |
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behavior may contribute to deep-set eyes and keratoconus in affected children. |
LRAT |
https://ghr.nlm.nih.gov/gene/LRAT |
db |
key |
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html:p |
In rare cases, delayed development and intellectual disability have been |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1858677 |
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reported in people with the features of Leber congenital amaurosis. However, |
NMNAT1 |
https://ghr.nlm.nih.gov/gene/NMNAT1 |
db |
key |
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researchers are uncertain whether these individuals actually have Leber |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1859844 |
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congenital amaurosis or another syndrome with similar signs and symptoms. |
RD3 |
https://ghr.nlm.nih.gov/gene/RD3 |
db |
key |
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html:p |
At least 13 types of Leber congenital amaurosis have been described. The types |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2675186 |
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are distinguished by their genetic cause, patterns of vision loss, and related |
RDH12 |
https://ghr.nlm.nih.gov/gene/RDH12 |
db |
key |
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eye abnormalities. |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2750063 |
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RPE65 |
https://ghr.nlm.nih.gov/gene/RPE65 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2931258 |
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RPGRIP1 |
https://ghr.nlm.nih.gov/gene/RPGRIP1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3151192 |
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SPATA7 |
https://ghr.nlm.nih.gov/gene/SPATA7 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3151202 |
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TULP1 |
https://ghr.nlm.nih.gov/gene/TULP1 |
db |
key |
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GTR |
C3151206 |
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db |
key |
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GeneReviews |
lca |
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db |
key |
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MeSH |
D057130 |
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db |
key |
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OMIM |
204000 |
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db |
key |
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OMIM |
204100 |
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db |
key |
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OMIM |
604232 |
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db |
key |
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OMIM |
604393 |
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db |
key |
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OMIM |
604537 |
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db |
key |
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OMIM |
608553 |
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db |
key |
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OMIM |
610612 |
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db |
key |
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OMIM |
611755 |
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db |
key |
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OMIM |
612712 |
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db |
key |
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OMIM |
613341 |
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db |
key |
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Orphanet |
65 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
193413001 |
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|
Leber hereditary optic neuropathy, LHON |
https://ghr.nlm.nih.gov/condition/leber-hereditary-optic-neuropathy |
The prevalence of LHON in most populations is unknown. It affects 1 in |
html:p |
Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. |
m |
mitochondrial |
MT-ND1 |
https://ghr.nlm.nih.gov/gene/MT-ND1 |
hereditary optic neuroretinopathy |
db |
key |
2013-12 |
2017-12-29 |
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|
Leber氏遺傳性視神經病變 |
30,000 to 50,000 people in northeast England and Finland. |
Although this condition usually begins in a person's teens or twenties, rare |
related-gene |
gene-symbol |
ghr-page |
Leber hereditary optic atrophy |
GTR |
C0917796 |
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雷伯氏遺傳性視神經萎縮症 |
cases may appear in early childhood or later in adulthood. For unknown reasons, |
MT-ND4 |
https://ghr.nlm.nih.gov/gene/MT-ND4 |
Leber optic atrophy |
db |
key |
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males are affected much more often than females. |
related-gene |
gene-symbol |
ghr-page |
Leber's hereditary optic neuropathy |
GeneReviews |
lhon |
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|
html:p |
Blurring and clouding of vision are usually the first symptoms of LHON. These |
MT-ND4L |
https://ghr.nlm.nih.gov/gene/MT-ND4L |
Leber's optic atrophy |
db |
key |
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vision problems may begin in one eye or simultaneously in both eyes; if vision |
related-gene |
gene-symbol |
ghr-page |
Leber's optic neuropathy |
GeneReviews |
mt-overview |
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loss starts in one eye, the other eye is usually affected within several weeks |
MT-ND6 |
https://ghr.nlm.nih.gov/gene/MT-ND6 |
LHON |
db |
key |
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or months. Over time, vision in both eyes worsens with a severe loss of |
related-mitochondrial-dna |
name |
ghr-page |
|
ICD-10-CM |
H47.22 |
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sharpness (visual acuity) and color vision. This condition mainly affects |
mitochondrial DNA |
https://ghr.nlm.nih.gov/mitochondrial-dna |
db |
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central vision, which is needed for detailed tasks such as reading, driving, and |
MeSH |
D029242 |
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recognizing faces. Vision loss results from the death of cells in the nerve |
db |
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that relays visual information from the eyes to the brain (the optic nerve). |
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OMIM |
308905 |
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Although central vision gradually improves in a small percentage of cases, in |
db |
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most cases the vision loss is profound and permanent. |
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OMIM |
535000 |
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html:p |
Vision loss is typically the only symptom of LHON; however, some families with |
db |
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additional signs and symptoms have been reported. In these individuals, the |
Orphanet |
104 |
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condition is described as "LHON plus." In addition to vision loss, the features |
db |
key |
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of LHON plus can include movement disorders, tremors, and abnormalities of the |
SNOMED CT |
58610003 |
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electrical signals that control the heartbeat (cardiac conduction defects). Some |
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affected individuals develop features similar to multiple sclerosis, which is a |
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chronic disorder characterized by muscle weakness, poor coordination, numbness, |
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and a variety of other health problems. |
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related-gene-list |
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Left ventricular noncompaction |
https://ghr.nlm.nih.gov/condition/left-ventricular-noncompaction |
Left ventricular noncompaction is estimated to affect 8 to 12 per 1 million |
html:p |
Left ventricular noncompaction is a heart (cardiac) muscle disorder that occurs |
ad |
autosomal dominant |
ACTC1 |
https://ghr.nlm.nih.gov/gene/ACTC1 |
fetal myocardium |
db |
key |
2017-06 |
2017-12-29 |
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(Heart muscle) |
individuals per year. However, the condition is likely more common than this |
when the lower left chamber of the heart (left ventricle), which helps the heart |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
honeycomb myocardium |
GTR |
C1832243 |
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estimate because individuals who do not have any related signs or symptoms may |
pump blood, does not develop correctly. Instead of the muscle being smooth and |
ar |
autosomal recessive |
DTNA |
https://ghr.nlm.nih.gov/gene/DTNA |
hypertrabeculation syndrome |
db |
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not come to medical attention. |
firm, the cardiac muscle in the left ventricle is thick and appears spongy. The |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
isolated noncompaction of the ventricular myocardium |
GTR |
C1858725 |
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abnormal cardiac muscle is weak and has an impaired ability to pump blood |
xr |
X-linked recessive |
HCN4 |
https://ghr.nlm.nih.gov/gene/HCN4 |
left ventricular hypertrabeculation |
db |
key |
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because it either cannot completely contract or it cannot completely relax. For |
related-gene |
gene-symbol |
ghr-page |
left ventricular myocardial noncompaction cardiomyopathy |
GTR |
C1960469 |
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the heart to pump blood normally, cardiac muscle must contract and relax fully. |
LDB3 |
https://ghr.nlm.nih.gov/gene/LDB3 |
left ventricular non-compaction |
db |
key |
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html:p |
Some individuals with left ventricular noncompaction experience no symptoms at |
related-gene |
gene-symbol |
ghr-page |
LVHT |
GTR |
C3554496 |
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all; others have heart problems that can include sudden cardiac death. |
LMNA |
https://ghr.nlm.nih.gov/gene/LMNA |
non-compaction of the left ventricular myocardium |
db |
key |
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Additional signs and symptoms include abnormal blood clots, irregular heart |
related-gene |
gene-symbol |
ghr-page |
noncompaction cardiomyopathy |
GTR |
C3715165 |
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rhythm (arrhythmia), a sensation of fluttering or pounding in the chest |
MIB1 |
https://ghr.nlm.nih.gov/gene/MIB1 |
spongy myocardium |
db |
key |
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(palpitations), extreme fatigue during exercise (exercise intolerance), |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3809288 |
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shortness of breath (dyspnea), fainting (syncope), swelling of the legs |
MYBPC3 |
https://ghr.nlm.nih.gov/gene/MYBPC3 |
db |
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(lymphedema), and trouble laying down flat. Some affected individuals have |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D056830 |
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features of other heart defects. Left ventricular noncompaction can be diagnosed |
MYH7 |
https://ghr.nlm.nih.gov/gene/MYH7 |
db |
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at any age, from birth to late adulthood. Approximately two-thirds of |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
601493 |
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individuals with left ventricular noncompaction develop heart failure. |
PRDM16 |
https://ghr.nlm.nih.gov/gene/PRDM16 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
601494 |
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SCN5A |
https://ghr.nlm.nih.gov/gene/SCN5A |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
604169 |
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TAZ |
https://ghr.nlm.nih.gov/gene/TAZ |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
609470 |
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TNNT2 |
https://ghr.nlm.nih.gov/gene/TNNT2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
611878 |
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TPM1 |
https://ghr.nlm.nih.gov/gene/TPM1 |
db |
key |
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OMIM |
613424 |
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db |
key |
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OMIM |
613426 |
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db |
key |
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OMIM |
615092 |
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db |
key |
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OMIM |
615373 |
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db |
key |
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OMIM |
615396 |
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db |
key |
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Orphanet |
54260 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
447935001 |
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Legg-Calvé-Perthes disease |
https://ghr.nlm.nih.gov/condition/legg-calve-perthes-disease |
The incidence of Legg-Calvé-Perthes disease varies by population. The |
html:p |
Legg-Calvé-Perthes disease is a bone disorder that affects the hips. Usually, |
ad |
autosomal dominant |
COL2A1 |
https://ghr.nlm.nih.gov/gene/COL2A1 |
Calve-Perthes disease |
db |
key |
2014-09 |
2017-12-29 |
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小兒股骨頭缺血性壞死 |
condition is most common in white populations, in which it affects an estimated |
only one hip is involved, but in about 10 percent of cases, both hips are |
coxa plana |
GTR |
C0023234 |
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(Hip bones) |
1 to 3 in 20,000 children under age 15. |
affected. Legg-Calvé-Perthes disease begins in childhood, typically between ages |
LCPD |
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4 and 8, and affects boys more frequently than girls. |
Perthes disease |
ICD-10-CM |
M91.1 |
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html:p |
In this condition, the upper end of the thigh bone, known as the femoral head, |
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breaks down. As a result, the femoral head is no longer round and does not move |
ICD-10-CM |
M91.10 |
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easily in the hip socket, which leads to hip pain, limping, and restricted leg |
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movement. The bone eventually begins to heal itself through a normal process |
ICD-10-CM |
M91.11 |
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called bone remodeling, by which old bone is removed and new bone is created to |
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replace it. This cycle of breakdown and healing can recur multiple times. |
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ICD-10-CM |
M91.12 |
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Affected individuals are often shorter than their peers due to the bone |
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abnormalities. Many people with Legg-Calvé-Perthes disease go on to develop a |
MeSH |
D007873 |
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painful joint disorder called osteoarthritis in the hips at an early age. |
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OMIM |
150600 |
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db |
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Orphanet |
2380 |
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related-gene-list |
|
SNOMED CT |
111255008 |
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Legius syndrome |
https://ghr.nlm.nih.gov/condition/legius-syndrome |
The prevalence of Legius syndrome is unknown. Many individuals with this |
html:p |
Legius syndrome is a condition characterized by changes in skin coloring |
ad |
autosomal dominant |
SPRED1 |
https://ghr.nlm.nih.gov/gene/SPRED1 |
neurofibromatosis type 1-like syndrome |
db |
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2011-02 |
2017-12-29 |
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Legius綜合症 |
disorder are likely misdiagnosed because the signs and symptoms of Legius |
(pigmentation). Almost all affected individuals have multiple café-au-lait |
NFLS |
GTR |
C1969623 |
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syndrome are similar to those of neurofibromatosis type 1. |
spots, which are flat patches on the skin that are darker than the surrounding |
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area. Another pigmentation change, freckles in the armpits and groin, may occur |
GeneReviews |
legius |
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in some affected individuals. |
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html:p |
Other signs and symptoms of Legius syndrome may include an abnormally large head |
MeSH |
D019080 |
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(macrocephaly) and unusual facial characteristics. Although most people with |
db |
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Legius syndrome have normal intelligence, some affected individuals have been |
OMIM |
611431 |
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diagnosed with learning disabilities, attention deficit disorder (ADD), or |
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attention deficit hyperactivity disorder (ADHD). |
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SNOMED CT |
703541007 |
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html:p |
Many of the signs and symptoms of Legius syndrome also occur in a similar |
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disorder called neurofibromatosis type 1. It can be difficult to tell the two |
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disorders apart in early childhood. However, the features of the two disorders |
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differ later in life. |
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related-gene-list |
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Leigh syndrome, LS |
https://ghr.nlm.nih.gov/condition/leigh-syndrome |
Leigh syndrome affects at least 1 in 40,000 newborns. The condition is more |
html:p |
Leigh syndrome is a severe neurological disorder that usually becomes apparent |
ar |
autosomal recessive |
AIFM1 |
https://ghr.nlm.nih.gov/gene/AIFM1 |
infantile subacute necrotizing encephalopathy |
db |
key |
2016-06 |
2017-12-29 |
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Leigh症候群 |
common in certain populations. For example, the condition occurs in |
in the first year of life. This condition is characterized by progressive loss |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
juvenile subacute necrotizing encephalopathy |
GTR |
C0023264 |
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Leigh 綜合症 |
approximately 1 in 2,000 newborns in the Saguenay Lac-Saint-Jean region of |
of mental and movement abilities (psychomotor regression) and typically results |
m |
mitochondrial |
BCS1L |
https://ghr.nlm.nih.gov/gene/BCS1L |
Leigh disease |
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Quebec, Canada and in approximately 1 in 1,700 individuals on the Faroe Islands. |
in death within two to three years, usually due to respiratory failure. A small |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Leigh's disease |
GTR |
C1857355 |
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number of individuals do not develop symptoms until adulthood or have symptoms |
xr |
X-linked recessive |
BTD |
https://ghr.nlm.nih.gov/gene/BTD |
subacute necrotizing encephalomyelopathy |
db |
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that worsen more slowly. |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
CN043625 |
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html:p |
The first signs of Leigh syndrome seen in infancy are usually vomiting, |
C12orf65 |
https://ghr.nlm.nih.gov/gene/C12orf65 |
db |
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diarrhea, and difficulty swallowing (dysphagia), which disrupts eating. These |
related-gene |
gene-symbol |
ghr-page |
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GTR |
CN230159 |
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problems often result in an inability to grow and gain weight at the expected |
COX10 |
https://ghr.nlm.nih.gov/gene/COX10 |
db |
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rate (failure to thrive). Severe muscle and movement problems are common in |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
leigh-nucl-ov |
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Leigh syndrome. Affected individuals may develop weak muscle tone (hypotonia), |
COX15 |
https://ghr.nlm.nih.gov/gene/COX15 |
db |
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involuntary muscle contractions (dystonia), and problems with movement and |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
narp |
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balance (ataxia). Loss of sensation and weakness in the limbs (peripheral |
DLAT |
https://ghr.nlm.nih.gov/gene/DLAT |
db |
key |
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neuropathy), common in people with Leigh syndrome, may also make movement |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
G31.82 |
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difficult. |
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DLD |
https://ghr.nlm.nih.gov/gene/DLD |
db |
key |
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html:p |
Several other features may occur in people with Leigh syndrome. Many individuals |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D007888 |
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with this condition develop weakness or paralysis of the muscles that move the |
EARS2 |
https://ghr.nlm.nih.gov/gene/EARS2 |
db |
key |
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eyes (ophthalmoparesis); rapid, involuntary eye movements (nystagmus); or |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
161700 |
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degeneration of the nerves that carry information from the eyes to the brain |
ECHS1 |
https://ghr.nlm.nih.gov/gene/ECHS1 |
db |
key |
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(optic atrophy). Severe breathing problems are common, and these problems can |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
220111 |
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worsen until they cause acute respiratory failure. Some affected individuals |
ETHE1 |
https://ghr.nlm.nih.gov/gene/ETHE1 |
db |
key |
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develop hypertrophic cardiomyopathy, which is a thickening of the heart muscle |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
256000 |
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that forces the heart to work harder to pump blood. In addition, a substance |
FARS2 |
https://ghr.nlm.nih.gov/gene/FARS2 |
db |
key |
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called lactate can build up in the body, and excessive amounts are often found |
related-gene |
gene-symbol |
ghr-page |
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Orphanet |
506 |
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in the blood, urine, or the fluid that surrounds and protects the brain and |
FBXL4 |
https://ghr.nlm.nih.gov/gene/FBXL4 |
db |
key |
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spinal cord (cerebrospinal fluid) of people with Leigh syndrome. |
related-gene |
gene-symbol |
ghr-page |
|
Orphanet |
255210 |
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html:p |
The signs and symptoms of Leigh syndrome are caused in part by patches of |
FOXRED1 |
https://ghr.nlm.nih.gov/gene/FOXRED1 |
db |
key |
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damaged tissue (lesions) that develop in the brains of people with this |
related-gene |
gene-symbol |
ghr-page |
|
SNOMED CT |
29570005 |
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condition. A medical procedure called magnetic resonance imaging (MRI) reveals |
GFM1 |
https://ghr.nlm.nih.gov/gene/GFM1 |
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characteristic lesions in certain regions of the brain. These regions include |
related-gene |
gene-symbol |
ghr-page |
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the basal ganglia, which help control movement; the cerebellum, which controls |
GFM2 |
https://ghr.nlm.nih.gov/gene/GFM2 |
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the ability to balance and coordinates movement; and the brainstem, which |
related-gene |
gene-symbol |
ghr-page |
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connects the brain to the spinal cord and controls functions such as swallowing |
GTPBP3 |
https://ghr.nlm.nih.gov/gene/GTPBP3 |
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and breathing. The brain lesions are often accompanied by loss of the myelin |
related-gene |
gene-symbol |
ghr-page |
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coating around nerves (demyelination), which reduces the ability of the nerves |
HIBCH |
https://ghr.nlm.nih.gov/gene/HIBCH |
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to activate muscles used for movement or relay sensory information from the rest |
related-gene |
gene-symbol |
ghr-page |
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of the body back to the brain. |
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IARS2 |
https://ghr.nlm.nih.gov/gene/IARS2 |
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related-gene |
gene-symbol |
ghr-page |
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LIAS |
https://ghr.nlm.nih.gov/gene/LIAS |
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related-gene |
gene-symbol |
ghr-page |
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LIPT1 |
https://ghr.nlm.nih.gov/gene/LIPT1 |
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related-gene |
gene-symbol |
ghr-page |
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LRPPRC |
https://ghr.nlm.nih.gov/gene/LRPPRC |
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related-gene |
gene-symbol |
ghr-page |
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MT-ATP6 |
https://ghr.nlm.nih.gov/gene/MT-ATP6 |
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related-gene |
gene-symbol |
ghr-page |
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MT-CO3 |
https://ghr.nlm.nih.gov/gene/MT-CO3 |
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related-gene |
gene-symbol |
ghr-page |
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MT-ND1 |
https://ghr.nlm.nih.gov/gene/MT-ND1 |
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related-gene |
gene-symbol |
ghr-page |
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MT-ND2 |
https://ghr.nlm.nih.gov/gene/MT-ND2 |
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related-gene |
gene-symbol |
ghr-page |
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MT-ND3 |
https://ghr.nlm.nih.gov/gene/MT-ND3 |
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related-gene |
gene-symbol |
ghr-page |
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MT-ND4 |
https://ghr.nlm.nih.gov/gene/MT-ND4 |
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related-gene |
gene-symbol |
ghr-page |
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MT-ND5 |
https://ghr.nlm.nih.gov/gene/MT-ND5 |
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related-gene |
gene-symbol |
ghr-page |
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MT-ND6 |
https://ghr.nlm.nih.gov/gene/MT-ND6 |
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related-gene |
gene-symbol |
ghr-page |
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MT-TI |
https://ghr.nlm.nih.gov/gene/MT-TI |
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related-gene |
gene-symbol |
ghr-page |
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MT-TK |
https://ghr.nlm.nih.gov/gene/MT-TK |
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related-gene |
gene-symbol |
ghr-page |
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MT-TL1 |
https://ghr.nlm.nih.gov/gene/MT-TL1 |
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related-gene |
gene-symbol |
ghr-page |
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MT-TV |
https://ghr.nlm.nih.gov/gene/MT-TV |
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related-gene |
gene-symbol |
ghr-page |
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MT-TW |
https://ghr.nlm.nih.gov/gene/MT-TW |
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related-gene |
gene-symbol |
ghr-page |
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MTFMT |
https://ghr.nlm.nih.gov/gene/MTFMT |
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related-gene |
gene-symbol |
ghr-page |
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NARS2 |
https://ghr.nlm.nih.gov/gene/NARS2 |
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related-gene |
gene-symbol |
ghr-page |
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NDUFA1 |
https://ghr.nlm.nih.gov/gene/NDUFA1 |
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related-gene |
gene-symbol |
ghr-page |
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NDUFA2 |
https://ghr.nlm.nih.gov/gene/NDUFA2 |
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related-gene |
gene-symbol |
ghr-page |
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NDUFA4 |
https://ghr.nlm.nih.gov/gene/NDUFA4 |
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|
related-gene |
gene-symbol |
ghr-page |
|
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|
NDUFA9 |
https://ghr.nlm.nih.gov/gene/NDUFA9 |
|
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related-gene |
gene-symbol |
ghr-page |
|
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|
NDUFA10 |
https://ghr.nlm.nih.gov/gene/NDUFA10 |
|
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related-gene |
gene-symbol |
ghr-page |
|
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|
NDUFA11 |
https://ghr.nlm.nih.gov/gene/NDUFA11 |
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related-gene |
gene-symbol |
ghr-page |
|
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|
NDUFA12 |
https://ghr.nlm.nih.gov/gene/NDUFA12 |
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related-gene |
gene-symbol |
ghr-page |
|
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|
NDUFAF2 |
https://ghr.nlm.nih.gov/gene/NDUFAF2 |
|
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related-gene |
gene-symbol |
ghr-page |
|
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|
NDUFAF5 |
https://ghr.nlm.nih.gov/gene/NDUFAF5 |
|
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related-gene |
gene-symbol |
ghr-page |
|
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|
NDUFAF6 |
https://ghr.nlm.nih.gov/gene/NDUFAF6 |
|
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related-gene |
gene-symbol |
ghr-page |
|
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|
NDUFS1 |
https://ghr.nlm.nih.gov/gene/NDUFS1 |
|
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related-gene |
gene-symbol |
ghr-page |
|
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|
NDUFS2 |
https://ghr.nlm.nih.gov/gene/NDUFS2 |
|
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related-gene |
gene-symbol |
ghr-page |
|
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|
NDUFS3 |
https://ghr.nlm.nih.gov/gene/NDUFS3 |
|
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|
related-gene |
gene-symbol |
ghr-page |
|
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|
|
NDUFS4 |
https://ghr.nlm.nih.gov/gene/NDUFS4 |
|
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|
related-gene |
gene-symbol |
ghr-page |
|
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|
|
NDUFS7 |
https://ghr.nlm.nih.gov/gene/NDUFS7 |
|
|
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|
related-gene |
gene-symbol |
ghr-page |
|
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|
|
|
NDUFS8 |
https://ghr.nlm.nih.gov/gene/NDUFS8 |
|
|
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|
|
related-gene |
gene-symbol |
ghr-page |
|
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|
|
|
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|
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|
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|
|
|
|
|
|
|
|
NDUFV1 |
https://ghr.nlm.nih.gov/gene/NDUFV1 |
|
|
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|
|
|
|
|
|
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|
|
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|
related-gene |
gene-symbol |
ghr-page |
|
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|
|
|
|
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|
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|
|
|
|
|
|
|
|
NDUFV2 |
https://ghr.nlm.nih.gov/gene/NDUFV2 |
|
|
|
|
|
|
|
|
|
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|
|
|
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|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
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|
|
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|
|
|
|
|
|
|
PDHA1 |
https://ghr.nlm.nih.gov/gene/PDHA1 |
|
|
|
|
|
|
|
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|
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|
|
|
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|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
PDHB |
https://ghr.nlm.nih.gov/gene/PDHB |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
PDHX |
https://ghr.nlm.nih.gov/gene/PDHX |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
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|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
PDSS2 |
https://ghr.nlm.nih.gov/gene/PDSS2 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
|
|
|
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|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
PET100 |
https://ghr.nlm.nih.gov/gene/PET100 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
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|
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|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
|
|
|
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|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
PNPT1 |
https://ghr.nlm.nih.gov/gene/PNPT1 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
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|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
POLG |
https://ghr.nlm.nih.gov/gene/POLG |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
SCO2 |
https://ghr.nlm.nih.gov/gene/SCO2 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
|
|
|
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|
|
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|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
SDHA |
https://ghr.nlm.nih.gov/gene/SDHA |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
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|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
|
|
|
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|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
SDHAF1 |
https://ghr.nlm.nih.gov/gene/SDHAF1 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
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|
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|
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|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
SERAC1 |
https://ghr.nlm.nih.gov/gene/SERAC1 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
SLC19A3 |
https://ghr.nlm.nih.gov/gene/SLC19A3 |
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
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|
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|
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|
|
|
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|
|
|
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|
|
|
|
|
|
|
|
|
|
SLC25A19 |
https://ghr.nlm.nih.gov/gene/SLC25A19 |
|
|
|
|
|
|
|
|
|
|
|
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related-gene |
gene-symbol |
ghr-page |
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SUCLA2 |
https://ghr.nlm.nih.gov/gene/SUCLA2 |
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related-gene |
gene-symbol |
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SUCLG1 |
https://ghr.nlm.nih.gov/gene/SUCLG1 |
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related-gene |
gene-symbol |
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SURF1 |
https://ghr.nlm.nih.gov/gene/SURF1 |
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related-gene |
gene-symbol |
ghr-page |
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TACO1 |
https://ghr.nlm.nih.gov/gene/TACO1 |
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related-gene |
gene-symbol |
ghr-page |
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TPK1 |
https://ghr.nlm.nih.gov/gene/TPK1 |
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related-gene |
gene-symbol |
ghr-page |
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TRMU |
https://ghr.nlm.nih.gov/gene/TRMU |
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related-gene |
gene-symbol |
ghr-page |
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TSFM |
https://ghr.nlm.nih.gov/gene/TSFM |
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related-gene |
gene-symbol |
ghr-page |
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TTC19 |
https://ghr.nlm.nih.gov/gene/TTC19 |
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related-gene |
gene-symbol |
ghr-page |
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UQCRQ |
https://ghr.nlm.nih.gov/gene/UQCRQ |
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related-mitochondrial-dna |
name |
ghr-page |
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mitochondrial DNA |
https://ghr.nlm.nih.gov/mitochondrial-dna |
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synonym-list |
db-key-list |
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Lennox-Gastaut syndrome |
https://ghr.nlm.nih.gov/condition/lennox-gastaut-syndrome |
Lennox-Gastaut syndrome affects an estimated 1 in 50,000 to 1 in 100,000 |
html:p |
Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. |
u |
pattern unknown |
synonym |
LGS |
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key |
2017-12-29 |
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雷葛氏症候群 |
children. This condition accounts for about 4 percent of all cases of childhood |
It is characterized by multiple types of seizures and intellectual disability. |
db-key |
C1853372 |
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epilepsy. For unknown reasons, it appears to be more common in males than in |
html:p |
People with Lennox-Gastaut syndrome begin having frequent seizures in early |
key |
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females. |
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childhood, usually between ages 3 and 5. More than three-quarters of affected |
db-key |
G40.811 |
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individuals have tonic seizures, which cause the muscles to stiffen (contract) |
key |
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uncontrollably. These seizures occur most often during sleep. Also common are |
db-key |
G40.812 |
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atypical absence seizures, which cause a partial or complete loss of |
key |
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consciousness. Additionally, many affected individuals have drop attacks, which |
db-key |
G40.813 |
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are sudden episodes of weak muscle tone. Drop attacks can result in falls that |
key |
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cause serious or life-threatening injuries. Other types of seizures have been |
db-key |
G40.814 |
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reported less frequently in people with Lennox-Gastaut syndrome. |
key |
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html:p |
Most of the seizures associated with Lennox-Gastaut syndrome are very brief. |
db-key |
D065768 |
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However, more than two-thirds of affected individuals experience at least one |
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prolonged period of seizure activity known as nonconvulsive status epilepticus. |
db-key |
606369 |
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These episodes can cause confusion and a loss of alertness lasting from hours to |
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weeks. |
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db-key |
2382 |
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html:p |
Almost all children with Lennox-Gastaut syndrome develop learning problems and |
key |
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intellectual disability associated with their frequent seizures. Because the |
230418006 |
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seizures associated with this condition are difficult to control with |
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medication, the intellectual disability tends to worsen with time. Some affected |
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children develop additional neurological abnormalities and behavioral problems. |
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Many also have delayed development of motor skills such as sitting and |
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crawling. As a result of their seizures and progressive intellectual disability, |
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most people with Lennox-Gastaut syndrome require help with some or all of the |
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usual activities of daily living. However, a small percentage of affected adults |
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live independently. |
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html:p |
People with Lennox-Gastaut syndrome have an increased risk of death compared to |
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their peers of the same age. Although the increased risk is not fully |
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understood, it is partly due to poorly controlled seizures and injuries from |
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falls. |
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related-gene-list |
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Lenz microphthalmia syndrome |
https://ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome |
Lenz microphthalmia syndrome is a very rare condition; its incidence is |
html:p |
Lenz microphthalmia syndrome is a condition characterized by abnormal |
xr |
X-linked recessive |
BCOR |
https://ghr.nlm.nih.gov/gene/BCOR |
Lenz dysmorphogenic syndrome |
db |
key |
2008-05 |
2017-12-29 |
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unknown. It has been identified in only a few families worldwide. |
development of the eyes and several other parts of the body. It occurs almost |
Lenz dysplasia |
GTR |
C0796016 |
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exclusively in males. |
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Lenz syndrome |
db |
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html:p |
The eye abnormalities associated with Lenz microphthalmia syndrome can affect |
MAA |
GeneReviews |
lenz |
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one or both eyes. People with this condition are born with eyeballs that are |
MCOPS1 |
db |
key |
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abnormally small (microphthalmia) or absent (anophthalmia), leading to vision |
microphthalmia or anophthalmos with associated anomalies |
MeSH |
D000853 |
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loss or blindness. Other eye problems can include clouding of the lens |
microphthalmia, syndromic 1 |
db |
key |
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(cataract), involuntary eye movements (nystagmus), a gap or split in structures |
MeSH |
D008850 |
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that make up the eye (coloboma), and a higher risk of an eye disease called |
db |
key |
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glaucoma. |
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MeSH |
D015785 |
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html:p |
Abnormalities of the ears, teeth, hands, skeleton, and urinary system are also |
db |
key |
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frequently seen in Lenz microphthalmia syndrome. Less commonly, heart defects |
OMIM |
309800 |
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have been reported in affected individuals. Many people with this condition have |
db |
key |
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delayed development or intellectual disability ranging from mild to severe. |
Orphanet |
568 |
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db |
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related-gene-list |
|
SNOMED CT |
438504004 |
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Leptin receptor deficiency |
https://ghr.nlm.nih.gov/condition/leptin-receptor-deficiency |
Leptin receptor deficiency is a rare cause of obesity. Its prevalence is |
html:p |
Leptin receptor deficiency is a condition that causes severe obesity beginning |
ar |
autosomal recessive |
LEPR |
https://ghr.nlm.nih.gov/gene/LEPR |
congenital deficiency of the leptin receptor |
db |
key |
2016-07 |
2017-12-29 |
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(Metabolic) |
unknown. |
in the first few months of life. Affected individuals are of normal weight at |
leptin receptor-related monogenic obesity |
GTR |
C3554225 |
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birth, but they are constantly hungry and quickly gain weight. The extreme |
obesity due to leptin receptor gene deficiency |
db |
key |
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hunger leads to chronic excessive eating (hyperphagia) and obesity. Beginning |
obesity, morbid, due to leptin receptor deficiency |
MeSH |
D009767 |
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in early childhood, affected individuals develop abnormal eating behaviors such |
obesity, morbid, nonsyndromic 2 |
db |
key |
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as fighting with other children over food, hoarding food, and eating in secret. |
OMIM |
614963 |
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html:p |
People with leptin receptor deficiency also have hypogonadotropic hypogonadism, |
db |
key |
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which is a condition caused by reduced production of hormones that direct sexual |
Orphanet |
179494 |
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development. Affected individuals experience delayed puberty or do not go |
db |
key |
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through puberty, and they may be unable to conceive children (infertile). |
|
SNOMED CT |
238136002 |
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related-gene-list |
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Léri-Weill dyschondrosteosis |
https://ghr.nlm.nih.gov/condition/leri-weill-dyschondrosteosis |
The prevalence of Léri-Weill dyschondrosteosis is unknown. It is diagnosed |
html:p |
Léri-Weill dyschondrosteosis is a disorder of bone growth. Affected individuals |
ac |
autosomal codominant |
SHOX |
https://ghr.nlm.nih.gov/gene/SHOX |
DCO |
db |
key |
2012-01 |
2017-12-29 |
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Léri-Weill軟骨骨生成障礙綜合症 |
more often in females than in males. |
typically have shortening of the long bones in the arms and legs (mesomelia). As |
code |
memo |
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dyschondrosteosis |
GTR |
C0265309 |
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(Bone) |
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a result of the shortened leg bones, people with Leri-Weill dyschondrosteosis |
xd |
X-linked dominant |
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Leri-Weill dyschondrosteosis |
db |
key |
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typically have short stature. Most people with the condition also have an |
LWD |
GeneReviews |
lwd |
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abnormality of the wrist and forearm bones called Madelung deformity, which may |
db |
key |
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cause pain and limit wrist movement. This abnormality usually appears in |
MeSH |
D009139 |
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childhood or early adolescence. Other features of Léri-Weill dyschondrosteosis |
db |
key |
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can include increased muscle mass (muscle hypertrophy); bowing of a bone in the |
OMIM |
127300 |
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lower leg called the tibia; a greater-than-normal angling of the elbow away from |
db |
key |
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the body (increased carrying angle); and a high arched palate. |
|
Orphanet |
240 |
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html:p |
Léri-Weill dyschondrosteosis occurs in both males and females, although its |
db |
key |
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signs and symptoms tend to be more severe in females. Researchers believe that |
SNOMED CT |
17818006 |
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the more severe features may result from hormonal differences. |
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related-gene-list |
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Lesch-Nyhan syndrome |
https://ghr.nlm.nih.gov/condition/lesch-nyhan-syndrome |
The prevalence of Lesch-Nyhan syndrome is approximately 1 in 380,000 |
html:p |
Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It |
xr |
X-linked recessive |
HPRT1 |
https://ghr.nlm.nih.gov/gene/HPRT1 |
choreoathetosis self-mutilation syndrome |
db |
key |
2013-02 |
2017-12-29 |
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萊希-尼亨症候群 |
individuals. This condition occurs with a similar frequency in all populations. |
is characterized by neurological and behavioral abnormalities and the |
complete HPRT deficiency |
GTR |
C0023374 |
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overproduction of uric acid. Uric acid is a waste product of normal chemical |
complete hypoxanthine-guanine phosphoribosyltransferase deficiency |
db |
key |
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processes and is found in blood and urine. Excess uric acid can be released from |
deficiency of guanine phosphoribosyltransferase |
GeneReviews |
lns |
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the blood and build up under the skin and cause gouty arthritis (arthritis |
deficiency of hypoxanthine phosphoribosyltransferase |
db |
key |
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caused by an accumulation of uric acid in the joints). Uric acid accumulation |
HGPRT deficiency |
ICD-10-CM |
E79.1 |
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can also cause kidney and bladder stones. |
|
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hypoxanthine guanine phosphoribosyltransferase deficiency |
db |
key |
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html:p |
The nervous system and behavioral disturbances experienced by people with |
hypoxanthine phosphoribosyltransferase deficiency |
MeSH |
D007926 |
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Lesch-Nyhan syndrome include abnormal involuntary muscle movements, such as |
juvenile gout, choreoathetosis, mental retardation syndrome |
db |
key |
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tensing of various muscles (dystonia), jerking movements (chorea), and flailing |
juvenile hyperuricemia syndrome |
OMIM |
300322 |
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of the limbs (ballismus). People with Lesch-Nyhan syndrome usually cannot walk, |
Lesch-Nyhan disease |
db |
key |
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require assistance sitting, and generally use a wheelchair. Self-injury |
LND |
OMIM |
300323 |
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(including biting and head banging) is the most common and distinctive |
LNS |
db |
key |
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behavioral problem in individuals with Lesch-Nyhan syndrome. |
primary hyperuricemia syndrome |
Orphanet |
510 |
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total HPRT deficiency |
db |
key |
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total hypoxanthine-guanine phosphoribosyl transferase deficiency |
SNOMED CT |
10406007 |
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X-linked hyperuricemia |
db |
key |
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X-linked primary hyperuricemia |
SNOMED CT |
124275001 |
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Lethal congenital contracture syndrome 1 |
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致死先天性攣縮綜合徵 |
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Lethal tight skin contracture syndrome |
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related-gene-list |
X-linked uric aciduria enzyme defect |
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Leukocyte adhesion deficiency type 1 |
https://ghr.nlm.nih.gov/condition/leukocyte-adhesion-deficiency-type-1 |
Leukocyte adhesion deficiency type 1 is estimated to occur in 1 per million |
html:p |
Leukocyte adhesion deficiency type 1 is a disorder that causes the immune system |
ar |
autosomal recessive |
ITGB2 |
https://ghr.nlm.nih.gov/gene/ITGB2 |
LAD1 |
db |
key |
2014-04 |
2017-12-29 |
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people worldwide. At least 300 cases of this condition have been reported in |
to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are |
leucocyte adhesion deficiency type 1 |
GTR |
C0398738 |
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the scientific literature. |
conditions in which the immune system is not able to protect the body |
leukocyte adhesion molecule deficiency type 1 |
db |
key |
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effectively from foreign invaders such as viruses, bacteria, and fungi. Starting |
MeSH |
D018370 |
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from birth, people with leukocyte adhesion deficiency type 1 develop serious |
db |
key |
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bacterial and fungal infections. |
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OMIM |
116920 |
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html:p |
One of the first signs of leukocyte adhesion deficiency type 1 is a delay in the |
db |
key |
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detachment of the umbilical cord stump after birth. In newborns, the stump |
Orphanet |
99842 |
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normally falls off within the first two weeks of life; but, in infants with |
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key |
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leukocyte adhesion deficiency type 1, this separation usually occurs at three |
SNOMED CT |
234582006 |
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weeks or later. In addition, affected infants often have inflammation of the |
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umbilical cord stump (omphalitis) due to a bacterial infection. |
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html:p |
In leukocyte adhesion deficiency type 1, bacterial and fungal infections most |
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commonly occur on the skin and mucous membranes such as the moist lining of the |
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nose and mouth. In childhood, people with this condition develop severe |
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inflammation of the gums (gingivitis) and other tissue around the teeth |
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(periodontitis), which often results in the loss of both primary and permanent |
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teeth. These infections often spread to cover a large area. A hallmark of |
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leukocyte adhesion deficiency type 1 is the lack of pus formation at the sites |
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of infection. In people with this condition, wounds are slow to heal, which can |
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lead to additional infection. |
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html:p |
Life expectancy in individuals with leukocyte adhesion deficiency type 1 is |
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often severely shortened. Due to repeat infections, affected individuals may not |
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survive past infancy. |
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related-gene-list |
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Leukoencephalopathy with brainstem and spinal cord involvement and lactate |
https://ghr.nlm.nih.gov/condition/leukoencephalopathy-with-brainstem-and-spinal- |
LBSL is a rare condition. Its exact prevalence is not known. |
html:p |
Leukoencephalopathy with brainstem and spinal cord involvement and lactate |
ar |
autosomal recessive |
DARS2 |
https://ghr.nlm.nih.gov/gene/DARS2 |
LBSL |
db |
key |
2011-08 |
2017-12-29 |
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elevation |
cord-involvement-and-lactate-elevation |
elevation (commonly referred to as LBSL) is a progressive disorder that affects |
mitochondrial aspartyl-tRNA synthetase deficiency |
GTR |
C1970180 |
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the brain and spinal cord. Leukoencephalopathy refers to abnormalities in the |
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white matter of the brain, which is tissue containing nerve cell fibers (axons) |
GeneReviews |
lbsl |
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that transmit nerve impulses. |
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html:p |
Most affected individuals begin to develop movement problems during childhood or |
MeSH |
D056784 |
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adolescence. However, in some individuals, these problems do not develop until |
db |
key |
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adulthood. People with LBSL have abnormal muscle stiffness (spasticity) and |
OMIM |
611105 |
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difficulty with coordinating movements (ataxia). In addition, affected |
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individuals lose the ability to sense the position of their limbs or vibrations |
Orphanet |
137898 |
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with their limbs. These movement and sensation problems affect the legs more |
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than the arms, making walking difficult. Most affected individuals eventually |
SNOMED CT |
703537008 |
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require wheelchair assistance, sometimes as early as their teens, although the |
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age varies. |
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html:p |
People with LBSL can have other signs and symptoms of the condition. Some |
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affected individuals develop recurrent seizures (epilepsy), speech difficulties |
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(dysarthria), learning problems, or mild deterioration of mental functioning. |
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Some people with this disorder are particularly vulnerable to severe |
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complications following minor head trauma, which may trigger a loss of |
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consciousness, other reversible neurological problems, or fever. |
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html:p |
Distinct changes in the brains of people with LBSL can be seen using magnetic |
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resonance imaging (MRI). These characteristic abnormalities typically involve |
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particular parts of the white matter of the brain and specific regions (called |
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tracts) within the brainstem and spinal cord, especially the pyramidal tract and |
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the dorsal column. In addition, most affected individuals have a high level of |
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a substance called lactate in the white matter of the brain, which is identified |
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using another test called magnetic resonance spectroscopy (MRS). |
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related-gene-list |
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Leukoencephalopathy with thalamus and brainstem involvement and high lactate |
https://ghr.nlm.nih.gov/condition/leukoencephalopathy-with-thalamus-and-brainste |
LTBL is a rare condition. While its prevalence is unknown, at least 19 |
html:p |
Leukoencephalopathy with thalamus and brainstem involvement and high lactate |
ar |
autosomal recessive |
EARS2 |
https://ghr.nlm.nih.gov/gene/EARS2 |
combined oxidative phosphorylation deficiency 12 |
db |
key |
2016-09 |
2017-12-29 |
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m-involvement-and-high-lactate |
cases have been described in the medical literature. |
(LTBL) is a disorder that affects the brain. LTBL is one of a group of genetic |
COXPD12 |
GTR |
C3554079 |
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disorders called leukodystrophies, which feature abnormalities of the nervous |
LTBL |
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system's white matter. White matter consists of nerve fibers covered by a fatty |
GeneReviews |
leukodys-ov |
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substance, called myelin, that insulates nerve fibers and promotes the rapid |
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transmission of nerve impulses. |
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MeSH |
D056784 |
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html:p |
LTBL is characterized by distinct changes in the brain, which can be seen using |
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magnetic resonance imaging (MRI). These abnormalities typically involve white |
OMIM |
614924 |
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matter in regions of the brain known as the cerebrum and cerebellum. |
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Abnormalities can also be seen in other regions of the brain, including the |
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brainstem, which is the part that connects to the spinal cord. Affected brain |
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regions include the thalamus, midbrain, pons, and medulla oblongata. Thinning of |
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the tissue that connects the left and right halves of the brain (the corpus |
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callosum) also occurs in people with LTBL. In addition, most affected |
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individuals have a high level of a substance called lactate in the brain and |
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elsewhere in the body. |
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html:p |
The severity of the condition varies. Mildly affected individuals usually |
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develop signs and symptoms after the age of 6 months. Loss of mental and |
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movement abilities (psychomotor regression), muscle stiffness (spasticity), and |
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extreme irritability are common, and some people with mild LTBL develop |
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seizures. However, after age 2, the signs and symptoms of the condition improve: |
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affected children regain some psychomotor abilities, seizures are reduced or |
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disappear, MRI results become more normal, and lactate levels drop. |
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html:p |
Severely affected individuals have features that begin soon after birth. These |
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infants typically have delayed development of mental and movement abilities |
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(psychomotor delay), weak muscle tone (hypotonia), involuntary muscle tensing |
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(dystonia), muscle spasticity, and seizures. Some have extremely high levels of |
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lactate (lactic acidosis), which can cause serious breathing problems and an |
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abnormal heartbeat. Liver failure occurs in some severely affected infants. In |
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severe cases, the signs and symptoms do not improve and can be life-threatening. |
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In some people with LTBL, the features fall between mild and severe. |
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related-gene-list |
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Leukoencephalopathy with vanishing white matter |
https://ghr.nlm.nih.gov/condition/leukoencephalopathy-with-vanishing-white-matter |
The prevalence of leukoencephalopathy with vanishing white matter is |
html:p |
Leukoencephalopathy with vanishing white matter is a progressive disorder that |
ar |
autosomal recessive |
EIF2B1 |
https://ghr.nlm.nih.gov/gene/EIF2B1 |
CACH syndrome |
db |
key |
2013-05 |
2017-12-29 |
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Vanishing White Matter Disease |
unknown. Although it is a rare disorder, it is believed to be one of the most |
mainly affects the brain and spinal cord (central nervous system). This disorder |
related-gene |
gene-symbol |
ghr-page |
childhood ataxia with central nervous system hypomyelination |
GTR |
C1858991 |
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白質消失症 |
common inherited diseases that affect the white matter. |
causes deterioration of the central nervous system's white matter, which |
EIF2B2 |
https://ghr.nlm.nih.gov/gene/EIF2B2 |
Cree leukoencephalopathy |
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consists of nerve fibers covered by myelin. Myelin is the fatty substance that |
related-gene |
gene-symbol |
ghr-page |
myelinosis centralis diffusa |
GeneReviews |
cach |
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insulates and protects nerves. |
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EIF2B3 |
https://ghr.nlm.nih.gov/gene/EIF2B3 |
vanishing white matter disease |
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html:p |
In most cases, people with leukoencephalopathy with vanishing white matter show |
related-gene |
gene-symbol |
ghr-page |
vanishing white matter leukodystrophy |
MeSH |
D020279 |
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no signs or symptoms of the disorder at birth. Affected children may have |
EIF2B4 |
https://ghr.nlm.nih.gov/gene/EIF2B4 |
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slightly delayed development of motor skills such as crawling or walking. During |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D056784 |
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early childhood, most affected individuals begin to develop motor symptoms, |
EIF2B5 |
https://ghr.nlm.nih.gov/gene/EIF2B5 |
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including abnormal muscle stiffness (spasticity) and difficulty with |
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OMIM |
603896 |
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coordinating movements (ataxia). There may also be some deterioration of mental |
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functioning, but this is not usually as pronounced as the motor symptoms. Some |
Orphanet |
135 |
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affected females may have abnormal development of the ovaries (ovarian |
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dysgenesis). Specific changes in the brain as seen using magnetic resonance |
SNOMED CT |
447351004 |
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imaging (MRI) are characteristic of leukoencephalopathy with vanishing white |
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matter, and may be visible before the onset of symptoms. |
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html:p |
While childhood onset is the most common form of leukoencephalopathy with |
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vanishing white matter, some severe forms are apparent at birth. A severe, |
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early-onset form seen among the Cree and Chippewayan populations of Quebec and |
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Manitoba is called Cree leukoencephalopathy. Milder forms may not become evident |
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until adolescence or adulthood, when behavioral or psychiatric problems may be |
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the first signs of the disease. Some females with milder forms of |
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leukoencephalopathy with vanishing white matter who survive to adolescence |
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exhibit ovarian dysfunction. This variant of the disorder is called |
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ovarioleukodystrophy. |
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html:p |
Progression of leukoencephalopathy with vanishing white matter is generally |
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uneven, with periods of relative stability interrupted by episodes of rapid |
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decline. People with this disorder are particularly vulnerable to stresses such |
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as infection, mild head trauma or other injury, or even extreme fright. These |
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stresses may trigger the first symptoms of the condition or worsen existing |
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symptoms, and can cause affected individuals to become lethargic or comatose. |
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related-gene-list |
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Leydig cell hypoplasia |
https://ghr.nlm.nih.gov/condition/leydig-cell-hypoplasia |
Leydig cell hypoplasia is a rare disorder; its prevalence is unknown. |
html:p |
Leydig cell hypoplasia is a condition that affects male sexual development. It |
ar |
autosomal recessive |
LHCGR |
https://ghr.nlm.nih.gov/gene/LHCGR |
46,XY disorder of sex development due to LH defects |
db |
key |
2010-04 |
2017-12-29 |
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Leydig細胞發育不全 |
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is characterized by underdevelopment (hypoplasia) of Leydig cells in the testes. |
LCH |
GTR |
C0266432 |
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Leydig cells secrete male sex hormones (androgens) that are important for |
Leydig cell agenesis |
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normal male sexual development before birth and during puberty. |
LH resistance due to LH receptor deactivation |
MeSH |
D058490 |
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html:p |
In Leydig cell hypoplasia, affected individuals with a typical male chromosomal |
male hypergonadotropic hypogonadism due to LHCGR defect |
db |
key |
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pattern (46,XY) may have a range of genital abnormalities. Affected males may |
OMIM |
238320 |
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have a small penis (micropenis), the opening of the urethra on the underside of |
db |
key |
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the penis (hypospadias), or a scrotum divided into two lobes (bifid scrotum). |
Orphanet |
755 |
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Because of these abnormalities, the external genitalia may not look clearly male |
db |
key |
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or clearly female (ambiguous genitalia). |
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SNOMED CT |
56212008 |
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html:p |
In more severe cases of Leydig cell hypoplasia, people with a typical male |
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chromosomal pattern (46,XY) have female external genitalia. They have small |
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testes that are undescended, which means they are abnormally located in the |
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pelvis, abdomen, or groin. People with this form of the disorder do not develop |
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secondary sex characteristics, such as increased body hair, at puberty. Some |
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researchers refer to this form of Leydig cell hypoplasia as type 1 and designate |
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less severe cases as type 2. |
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related-gene-list |
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Li-Fraumeni syndrome |
https://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome |
The exact prevalence of Li-Fraumeni is unknown. One U.S. registry of |
html:p |
Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of |
ad |
autosomal dominant |
CHEK2 |
https://ghr.nlm.nih.gov/gene/CHEK2 |
LFS |
db |
key |
2007-01 |
2017-12-29 |
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李-佛美尼症候群 |
Li-Fraumeni syndrome patients suggests that about 400 people from 64 families |
developing several types of cancer, particularly in children and young adults. |
related-gene |
gene-symbol |
ghr-page |
Sarcoma family syndrome of Li and Fraumeni |
GTR |
C0085390 |
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(Cancer) |
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have this disorder. |
html:p |
The cancers most often associated with Li-Fraumeni syndrome include breast |
TP53 |
https://ghr.nlm.nih.gov/gene/TP53 |
Sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome |
db |
key |
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cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues |
SBLA syndrome |
GTR |
C1835398 |
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(such as muscle) called soft tissue sarcomas. Other cancers commonly seen in |
db |
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this syndrome include brain tumors, cancers of blood-forming tissues |
|
GTR |
C1836482 |
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(leukemias), and a cancer called adrenocortical carcinoma that affects the outer |
db |
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layer of the adrenal glands (small hormone-producing glands on top of each |
GeneReviews |
li-fraumeni |
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kidney). Several other types of cancer also occur more frequently in people |
db |
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with Li-Fraumeni syndrome. |
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ICD-10-CM |
Z15.01 |
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html:p |
A very similar condition called Li-Fraumeni-like syndrome shares many of the |
db |
key |
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features of classic Li-Fraumeni syndrome. Both conditions significantly |
|
MeSH |
D016864 |
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increase the chances of developing multiple cancers beginning in childhood; |
db |
key |
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however, the pattern of specific cancers seen in affected family members is |
OMIM |
151623 |
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different. |
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db |
key |
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OMIM |
609265 |
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db |
key |
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Orphanet |
524 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
428850001 |
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Liddle syndrome |
https://ghr.nlm.nih.gov/condition/liddle-syndrome |
Liddle syndrome is a rare condition, although its prevalence is unknown. |
html:p |
Liddle syndrome is an inherited form of high blood pressure (hypertension). This |
ad |
autosomal dominant |
SCNN1B |
https://ghr.nlm.nih.gov/gene/SCNN1B |
pseudoaldosteronism |
db |
key |
2013-03 |
2017-12-29 |
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李德爾氏綜合徵 |
The condition has been found in populations worldwide. |
condition is characterized by severe hypertension that begins unusually early |
related-gene |
gene-symbol |
ghr-page |
pseudoprimary hyperaldosteronism |
GTR |
C0221043 |
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in life, often in childhood, although some affected individuals are not |
SCNN1G |
https://ghr.nlm.nih.gov/gene/SCNN1G |
db |
key |
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diagnosed until adulthood. Some people with Liddle syndrome have no additional |
MeSH |
D056929 |
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signs or symptoms, especially in childhood. Over time, however, untreated |
db |
key |
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hypertension can lead to heart disease or stroke, which may be fatal. |
OMIM |
177200 |
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html:p |
In addition to hypertension, affected individuals can have low levels of |
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potassium in the blood (hypokalemia). Signs and symptoms of hypokalemia include |
Orphanet |
526 |
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muscle weakness or pain, fatigue, constipation, or heart palpitations. The |
db |
key |
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shortage of potassium can also raise the pH of the blood, a condition known as |
SNOMED CT |
707747007 |
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metabolic alkalosis. |
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related-gene-list |
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Liebenberg syndrome |
https://ghr.nlm.nih.gov/condition/liebenberg-syndrome |
Liebenberg syndrome is a rare condition. Fewer than 10 affected families |
html:p |
Liebenberg syndrome is a condition that involves abnormal development of the |
ad |
autosomal dominant |
PITX1 |
https://ghr.nlm.nih.gov/gene/PITX1 |
brachydactyly-elbow wrist dysplasia syndrome |
db |
key |
2016-09 |
2017-12-29 |
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Liebenberg综合征 |
have been described in the medical literature. |
arms, resulting in characteristic arm malformations that can vary in severity. |
brachydactyly with joint dysplasia |
GTR |
C1861313 |
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In people with this condition, bones and other tissues in the elbows, forearms, |
carpal synostosis with dysplastic elbow joints and brachydactyly |
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wrists, and hands have characteristics of related structures in the lower limbs. |
MeSH |
D038062 |
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For example, bones in the elbows are abnormally shaped, which affects mobility |
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of the joints. The stiff elbows function more like knees, unable to rotate as |
OMIM |
186550 |
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freely as elbows normally do. Bones in the wrists are joined together (fused), |
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forming structures that resemble those in the ankles and heels and causing |
Orphanet |
1275 |
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permanent bending of the hand toward the thumb (radial deviation). The bones in |
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the hands (metacarpals) are longer than normal, and the fingers are short |
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(brachydactyly), similar to the proportions of bones found in the feet. In |
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addition, muscles and tendons that are typically found only in the hands and not |
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in the feet are missing in people with Liebenberg syndrome. Affected |
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individuals also have joint deformities (contractures) that limit movement of |
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the elbows, wrists, and hands. Development of the lower limbs is normal in |
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people with this condition. |
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html:p |
Individuals with Liebenberg syndrome have no other health problems related to |
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this condition, and life expectancy is normal. |
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related-gene-list |
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Limb-girdle muscular dystrophy |
https://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy |
It is difficult to determine the prevalence of limb-girdle muscular |
html:p |
Limb-girdle muscular dystrophy is a term for a group of diseases that cause |
ad |
autosomal dominant |
ANO5 |
https://ghr.nlm.nih.gov/gene/ANO5 |
LGMD |
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key |
2014-12 |
2017-12-29 |
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肢帶型肌肉失養症 |
dystrophy because its features vary and overlap with those of other muscle |
weakness and wasting of the muscles in the arms and legs. The muscles most |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
limb-girdle syndrome |
GTR |
C0686353 |
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肢帶型肌營養不良症 |
disorders. Prevalence estimates range from 1 in 14,500 to 1 in 123,000 |
affected are those closest to the body (proximal muscles), specifically the |
ar |
autosomal recessive |
CAPN3 |
https://ghr.nlm.nih.gov/gene/CAPN3 |
myopathic limb-girdle syndrome |
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individuals. |
muscles of the shoulders, upper arms, pelvic area, and thighs. |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
cav |
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html:p |
The severity, age of onset, and features of limb-girdle muscle dystrophy vary |
CAV3 |
https://ghr.nlm.nih.gov/gene/CAV3 |
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among the many subtypes of this condition and may be inconsistent even within |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
lgmd-overview |
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the same family. Signs and symptoms may first appear at any age and generally |
DNAJB6 |
https://ghr.nlm.nih.gov/gene/DNAJB6 |
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worsen with time, although in some cases they remain mild. |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
lgmd2a |
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html:p |
In the early stages of limb-girdle muscular dystrophy, affected individuals may |
DYSF |
https://ghr.nlm.nih.gov/gene/DYSF |
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have an unusual walking gait, such as waddling or walking on the balls of their |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
miyoshi |
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feet, and may also have difficulty running. They may need to use their arms to |
FKRP |
https://ghr.nlm.nih.gov/gene/FKRP |
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press themselves up from a squatting position because of their weak thigh |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D049288 |
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muscles. As the condition progresses, people with limb-girdle muscular dystrophy |
FKTN |
https://ghr.nlm.nih.gov/gene/FKTN |
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may eventually require wheelchair assistance. |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
159000 |
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html:p |
Muscle wasting may cause changes in posture or in the appearance of the |
HNRNPDL |
https://ghr.nlm.nih.gov/gene/HNRNPDL |
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shoulder, back, and arm. In particular, weak shoulder muscles tend to make the |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
159001 |
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shoulder blades (scapulae) "stick out" from the back, a sign known as scapular |
ISPD |
https://ghr.nlm.nih.gov/gene/ISPD |
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winging. Affected individuals may also have an abnormally curved lower back |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
253600 |
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(lordosis) or a spine that curves to the side (scoliosis). Some develop joint |
LMNA |
https://ghr.nlm.nih.gov/gene/LMNA |
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stiffness (contractures) that can restrict movement in their hips, knees, |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
253601 |
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ankles, or elbows. Overgrowth (hypertrophy) of the calf muscles occurs in some |
MYOT |
https://ghr.nlm.nih.gov/gene/MYOT |
db |
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people with limb-girdle muscular dystrophy. |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
253700 |
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html:p |
Weakening of the heart muscle (cardiomyopathy) occurs in some forms of |
POMGNT1 |
https://ghr.nlm.nih.gov/gene/POMGNT1 |
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limb-girdle muscular dystrophy. Some affected individuals experience mild to |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
254110 |
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severe breathing problems related to the weakness of muscles needed for |
POMT1 |
https://ghr.nlm.nih.gov/gene/POMT1 |
db |
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breathing. In some cases, the breathing problems are severe enough that affected |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
601287 |
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individuals need to use a machine to help them breathe (mechanical |
POMT2 |
https://ghr.nlm.nih.gov/gene/POMT2 |
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ventilation). |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
601954 |
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html:p |
Intelligence is generally unaffected in limb-girdle muscular dystrophy; however, |
SGCA |
https://ghr.nlm.nih.gov/gene/SGCA |
db |
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developmental delay and intellectual disability have been reported in rare |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
603511 |
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forms of the disorder. |
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SGCB |
https://ghr.nlm.nih.gov/gene/SGCB |
db |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
604286 |
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SGCD |
https://ghr.nlm.nih.gov/gene/SGCD |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
607155 |
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SGCG |
https://ghr.nlm.nih.gov/gene/SGCG |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
607801 |
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TCAP |
https://ghr.nlm.nih.gov/gene/TCAP |
db |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
608099 |
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TNPO3 |
https://ghr.nlm.nih.gov/gene/TNPO3 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
608423 |
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TRAPPC11 |
https://ghr.nlm.nih.gov/gene/TRAPPC11 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
608807 |
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TRIM32 |
https://ghr.nlm.nih.gov/gene/TRIM32 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
609115 |
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TTN |
https://ghr.nlm.nih.gov/gene/TTN |
db |
key |
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OMIM |
609308 |
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db |
key |
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OMIM |
611307 |
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db |
key |
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OMIM |
611588 |
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db |
key |
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OMIM |
613157 |
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db |
key |
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OMIM |
613158 |
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db |
key |
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OMIM |
613530 |
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db |
key |
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Orphanet |
263 |
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db |
key |
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|
SNOMED CT |
240056002 |
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db |
key |
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SNOMED CT |
240064008 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
93153005 |
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|
Lipoid proteinosis |
https://ghr.nlm.nih.gov/condition/lipoid-proteinosis |
Lipoid proteinosis is thought to be a rare condition; fewer than 500 cases |
html:p |
Lipoid proteinosis is a condition that results from the formation of numerous |
ar |
autosomal recessive |
ECM1 |
https://ghr.nlm.nih.gov/gene/ECM1 |
hyalinosis cutis et mucosae |
db |
key |
2016-07 |
2017-12-29 |
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脂質蛋白沉積症 |
have been described in the scientific literature. This condition occurs more |
small clumps (deposits) of proteins and other molecules in various tissues |
lipid proteinosis |
GTR |
C0023795 |
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frequently in certain areas of the world, including Turkey, Iran, and the |
throughout the body. These tiny clumps appear in the skin, upper respiratory |
lipoglycoproteinosis |
db |
key |
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Northern Cape province of South Africa. |
tract, the moist tissues that line body openings such as the eyelids and the |
lipoid proteinosis of Urbach and Wiethe |
GeneReviews |
lipoid-p |
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inside of the mouth (mucous membranes), and other areas. |
lipoidosis cutis et mucosae |
db |
key |
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html:p |
The first symptom of this condition is usually a hoarse voice, which is due to |
lipoidproteinosis |
MeSH |
D008065 |
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deposits in the vocal cords. In infancy the hoarseness is expressed as a weak |
lipoproteinosis |
db |
key |
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cry. The voice abnormalities persist throughout life and can ultimately cause |
Urbach-Wiethe disease |
OMIM |
247100 |
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difficulty speaking or complete loss of speech. Involvement of the throat, |
Urbach-Wiethe lipoid proteinosis |
db |
key |
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tonsils, and lips can result in breathing problems and upper respiratory tract |
Urbach-Wiethe syndrome |
Orphanet |
530 |
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infections. Deposits in the tongue can result in a thick and shortened tongue. |
db |
key |
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They can also thicken the band of tissue that connects the tongue to the bottom |
SNOMED CT |
38692000 |
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of the mouth (frenulum), making it difficult to extend the tongue. The tongue |
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may also have a smooth appearance due to damage to the taste buds. |
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html:p |
A characteristic feature of lipoid proteinosis is the presence of multiple tiny, |
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bead-like bumps lining the upper and lower eyelids along the lash line. These |
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bumps are known as moniliform blepharosis. They may cause eyeball irritation or |
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itching but generally do not impair vision. |
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html:p |
The skin and mucous membranes are often fragile in children with lipoid |
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proteinosis, leading to bleeding and scabbing following minor trauma. These |
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problems often first appear in infancy in the mouth and on the face and limbs. |
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Over time, these scabs form blisters and scars. Deposits accumulate in the skin, |
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which causes the skin to become thickened and yellowish in color. Skin damage |
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appears more frequently on areas that experience friction, such as the hands, |
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elbows, knees, buttocks, and armpits. Some people with this condition have hair |
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loss (alopecia) affecting their scalp, eyelashes, and eyebrows. |
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html:p |
Neurologic features are also common in people with lipoid proteinosis. Affected |
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individuals may have recurrent seizures (epilepsy) or behavioral and |
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neurological problems, which can include headaches, aggressive behaviors, |
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paranoia, hallucinations, short-term memory loss, and absence of fear. These |
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features are thought to be associated with the presence of deposits and an |
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accumulation of calcium (calcification) in areas of the brain called the |
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temporal lobes. The temporal lobes help process hearing, speech, memory, and |
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emotion. The brain abnormalities and neurological features do not always occur |
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together, so the cause of the neurological features is still unclear. |
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Deposits can be found in some internal organs, including the stomach, a section |
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of the small intestine called the duodenum, and the colon. The deposits in these |
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tissues often do not cause any symptoms and may disappear over time. |
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related-gene-list |
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Lissencephaly with cerebellar hypoplasia |
https://ghr.nlm.nih.gov/condition/lissencephaly-with-cerebellar-hypoplasia |
LCH is a rare condition, although its prevalence is unknown. |
html:p |
Lissencephaly with cerebellar hypoplasia (LCH) affects brain development, |
ad |
autosomal dominant |
RELN |
https://ghr.nlm.nih.gov/gene/RELN |
LCH |
db |
key |
2013-08 |
2017-12-29 |
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無腦回畸形小腦發育不全 |
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resulting in the brain having a smooth appearance (lissencephaly) instead of its |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
LIS2 |
GTR |
C0796089 |
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normal folds and grooves. In addition, the part of the brain that coordinates |
ar |
autosomal recessive |
TUBA1A |
https://ghr.nlm.nih.gov/gene/TUBA1A |
LIS3 |
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movement is unusually small and underdeveloped (cerebellar hypoplasia). Other |
lissencephaly 2 |
GTR |
C1969029 |
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parts of the brain are also often underdeveloped in LCH, including the |
lissencephaly 3 |
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hippocampus, which plays a role in learning and memory, and the part of the |
lissencephaly syndrome, Norman-Roberts type |
ICD-10-CM |
Q04.3 |
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brain that is connected to the spinal cord (the brainstem). |
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Norman-Roberts syndrome |
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html:p |
Individuals with LCH have moderate to severe intellectual disability and delayed |
MeSH |
D054221 |
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development. They have few or no communication skills, extremely poor muscle |
db |
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tone (hypotonia), problems with coordination and balance (ataxia), and |
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OMIM |
257320 |
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difficulty sitting or standing without support. Most affected children |
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experience recurrent seizures (epilepsy) that begin within the first months of |
OMIM |
611603 |
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life. Some affected individuals have nearsightedness (myopia), involuntary eye |
db |
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movements (nystagmus), or puffiness or swelling caused by a buildup of fluids in |
Orphanet |
89844 |
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the body's tissues (lymphedema). |
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SNOMED CT |
715817007 |
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db |
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related-gene-list |
|
SNOMED CT |
717977003 |
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Loeys-Dietz syndrome |
https://ghr.nlm.nih.gov/condition/loeys-dietz-syndrome |
The prevalence of Loeys-Dietz syndrome is unknown. Loeys-Dietz syndrome |
html:p |
Loeys-Dietz syndrome is a disorder that affects the connective tissue in many |
ad |
autosomal dominant |
SMAD3 |
https://ghr.nlm.nih.gov/gene/SMAD3 |
LDS |
db |
key |
2017-03 |
2017-12-29 |
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Loeys-Dietz综合征 |
types I and II appear to be the most common forms. |
parts of the body. Connective tissue provides strength and flexibility to |
related-gene |
gene-symbol |
ghr-page |
Loeys-Dietz aortic aneurysm syndrome |
GTR |
C2674876 |
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Loeys-Dietz 症候群 |
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structures such as bones, ligaments, muscles, and blood vessels. |
TGFB2 |
https://ghr.nlm.nih.gov/gene/TGFB2 |
db |
key |
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(Connective tissue) |
html:p |
There are five types of Loeys-Dietz syndrome, labelled types I through V, which |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2697932 |
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are distinguished by their genetic cause. Regardless of the type, signs and |
TGFB3 |
https://ghr.nlm.nih.gov/gene/TGFB3 |
db |
key |
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symptoms of Loeys-Dietz syndrome can become apparent anytime from childhood |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2697933 |
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through adulthood, and the severity is variable. |
TGFBR1 |
https://ghr.nlm.nih.gov/gene/TGFBR1 |
db |
key |
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html:p |
Loeys-Dietz syndrome is characterized by enlargement of the aorta, which is the |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3151087 |
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large blood vessel that distributes blood from the heart to the rest of the |
TGFBR2 |
https://ghr.nlm.nih.gov/gene/TGFBR2 |
db |
key |
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body. The aorta can weaken and stretch, causing a bulge in the blood vessel wall |
GTR |
C3553762 |
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(an aneurysm). Stretching of the aorta may also lead to a sudden tearing of the |
db |
key |
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layers in the aorta wall (aortic dissection). People with Loeys-Dietz syndrome |
GTR |
C3810012 |
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can also have aneurysms or dissections in arteries throughout the body and have |
db |
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arteries with abnormal twists and turns (arterial tortuosity). |
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GeneReviews |
loeys-dietz |
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html:p |
Individuals with Loeys-Dietz syndrome often have skeletal problems including |
db |
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premature fusion of the skull bones (craniosynostosis), an abnormal side-to-side |
MeSH |
D055947 |
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curvature of the spine (scoliosis), either a sunken chest (pectus excavatum) or |
db |
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a protruding chest (pectus carinatum), an inward- and upward-turning foot |
OMIM |
609192 |
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(clubfoot), flat feet (pes planus), or elongated limbs with joint deformities |
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called contractures that restrict the movement of certain joints. A membrane |
OMIM |
610168 |
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called the dura, which surrounds the brain and spinal cord, can be abnormally |
db |
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enlarged (dural ectasia). In individuals with Loeys-Dietz syndrome, dural |
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OMIM |
613795 |
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ectasia typically does not cause health problems. Malformation or instability of |
db |
key |
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the spinal bones (vertebrae) in the neck is a common feature of Loeys-Dietz |
OMIM |
614816 |
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syndrome and can lead to injuries to the spinal cord. Some affected individuals |
db |
key |
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have joint inflammation (osteoarthritis) that commonly affects the knees and the |
OMIM |
615582 |
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joints of the hands, wrists, and spine. |
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db |
key |
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html:p |
People with Loeys-Dietz syndrome may bruise easily and develop abnormal scars |
Orphanet |
60030 |
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after wound healing. The skin is frequently described as translucent, often with |
db |
key |
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stretch marks (striae) and visible underlying veins. Some individuals with |
SNOMED CT |
446263001 |
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Loeys-Dietz syndrome develop an abnormal accumulation of air in the chest cavity |
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that can result in the collapse of a lung (spontaneous pneumothorax) or a |
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protrusion of organs through gaps in muscles (hernias). Other characteristic |
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features include widely spaced eyes (hypertelorism), eyes that do not point in |
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the same direction (strabismus), a split in the soft flap of tissue that hangs |
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from the back of the mouth (bifid uvula), and an opening in the roof of the |
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mouth (cleft palate). |
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html:p |
Individuals with Loeys-Dietz syndrome frequently develop immune system-related |
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problems such as food allergies, asthma, or inflammatory disorders such as |
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eczema or inflammatory bowel disease. |
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related-gene-list |
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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
https://ghr.nlm.nih.gov/condition/long-chain-3-hydroxyacyl-coa-dehydrogenase-deficiency |
The incidence of LCHAD deficiency is unknown. One estimate, based on a |
html:p |
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a rare |
ar |
autosomal recessive |
HADHA |
https://ghr.nlm.nih.gov/gene/HADHA |
3-hydroxyacyl-CoA dehydrogenase, long chain, deficiency |
db |
key |
2017-05 |
2017-12-29 |
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iciency |
Finnish population, indicates that 1 in 62,000 pregnancies is affected by this |
condition that prevents the body from converting certain fats to energy, |
LCHAD deficiency |
GTR |
CN074230 |
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disorder. In the United States, the incidence is probably much lower. |
particularly during periods without food (fasting). |
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long-chain 3-hydroxy acyl CoA dehydrogenase deficiency |
db |
key |
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html:p |
Signs and symptoms of LCHAD deficiency typically appear during infancy or early |
long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency |
MeSH |
D008052 |
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childhood and can include feeding difficulties, lack of energy (lethargy), low |
long-chain 3-OH acyl-CoA dehydrogenase deficiency |
db |
key |
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blood sugar (hypoglycemia), weak muscle tone (hypotonia), liver problems, and |
trifunctional protein deficiency, type 1 |
OMIM |
609016 |
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abnormalities in the light-sensitive tissue at the back of the eye (retina). |
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Later in childhood, people with this condition may experience muscle pain, |
Orphanet |
5 |
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breakdown of muscle tissue, and a loss of sensation in their arms and legs |
db |
key |
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(peripheral neuropathy). Individuals with LCHAD deficiency are also at risk for |
SNOMED CT |
307127004 |
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serious heart problems, breathing difficulties, coma, and sudden death. |
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html:p |
Problems related to LCHAD deficiency can be triggered when the body is under |
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stress, for example during periods of fasting, illnesses such as viral |
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infections, or weather extremes. This disorder is sometimes mistaken for Reye |
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syndrome, a severe disorder that may develop in children while they appear to be |
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recovering from viral infections such as chicken pox or flu. Most cases of Reye |
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syndrome are associated with the use of aspirin during these viral infections. |
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related-gene-list |
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Lowe syndrome |
https://ghr.nlm.nih.gov/condition/lowe-syndrome |
Lowe syndrome is an uncommon condition. It has an estimated prevalence of |
html:p |
Lowe syndrome is a condition that primarily affects the eyes, brain, and |
xr |
X-linked recessive |
OCRL |
https://ghr.nlm.nih.gov/gene/OCRL |
cerebrooculorenal syndrome |
db |
key |
2013-11 |
2017-12-29 |
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Lowe 氏综合征 |
1 in 500,000 people. |
kidneys. This disorder occurs almost exclusively in males. |
Lowe oculocerebrorenal syndrome |
GTR |
C0028860 |
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Lowe氏症候群 |
|
html:p |
Infants with Lowe syndrome are born with thick clouding of the lenses in both |
oculocerebrorenal syndrome |
db |
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eyes (congenital cataracts), often with other eye abnormalities that can impair |
oculocerebrorenal syndrome of Lowe |
GeneReviews |
lowe |
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vision. About half of affected infants develop an eye disease called infantile |
phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency |
db |
key |
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glaucoma, which is characterized by increased pressure within the eyes. |
|
ICD-10-CM |
E72.03 |
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html:p |
Many individuals with Lowe syndrome have delayed development, and intellectual |
db |
key |
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ability ranges from normal to severely impaired. Behavioral problems and |
MeSH |
D009800 |
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seizures have also been reported in children with this condition. Most affected |
db |
key |
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children have weak muscle tone from birth (neonatal hypotonia), which can |
OMIM |
309000 |
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contribute to feeding difficulties, problems with breathing, and delayed |
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development of motor skills such as sitting, standing, and walking. |
|
Orphanet |
534 |
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html:p |
Kidney (renal) abnormalities, most commonly a condition known as renal Fanconi |
db |
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syndrome, frequently develop in individuals with Lowe syndrome. The kidneys play |
SNOMED CT |
79385002 |
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an essential role in maintaining the right amounts of minerals, salts, water, |
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and other substances in the body. In individuals with renal Fanconi syndrome, |
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the kidneys are unable to reabsorb important nutrients into the bloodstream. |
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Instead, the nutrients are excreted in the urine. These kidney problems lead to |
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increased urination, dehydration, and abnormally acidic blood (metabolic |
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acidosis). A loss of salts and nutrients may also impair growth and result in |
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soft, bowed bones (hypophosphatemic rickets), especially in the legs. |
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Progressive kidney problems in older children and adults with Lowe syndrome can |
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lead to life-threatening renal failure and end-stage renal disease (ESRD). |
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related-gene-list |
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Lujan syndrome |
https://ghr.nlm.nih.gov/condition/lujan-syndrome |
Lujan syndrome appears to be an uncommon condition, but its prevalence is |
html:p |
Lujan syndrome is a condition characterized by intellectual disability, |
xr |
X-linked recessive |
MED12 |
https://ghr.nlm.nih.gov/gene/MED12 |
LFS |
db |
key |
2012-12 |
2017-12-29 |
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|
鲁扬综合征 |
unknown. |
behavioral problems, and certain physical features. It occurs almost exclusively |
Lujan-Fryns syndrome |
GTR |
C0796022 |
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in males. |
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X-linked intellectual deficit with marfanoid habitus |
db |
key |
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html:p |
The intellectual disability associated with Lujan syndrome is usually mild to |
X-linked mental retardation with marfanoid habitus |
GeneReviews |
fg |
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moderate. Behavioral problems can include hyperactivity, aggressiveness, extreme |
XLMR with marfanoid features |
db |
key |
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shyness, and excessive attention-seeking. Some affected individuals have |
MeSH |
D038901 |
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features of autism or related developmental disorders affecting communication |
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and social interaction. A few have been diagnosed with psychiatric problems such |
OMIM |
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as delusions and hallucinations. |
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html:p |
Characteristic physical features of Lujan syndrome include a tall, thin body and |
Orphanet |
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an unusually large head (macrocephaly). Affected individuals also have a long, |
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thin face with distinctive facial features such as a prominent top of the nose |
SNOMED CT |
422437002 |
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(high nasal root); a short space between the nose and the upper lip (philtrum); |
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a narrow roof of the mouth (palate); crowded teeth; and a small chin |
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(micrognathia). Almost all people with this condition have weak muscle tone |
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(hypotonia). |
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html:p |
Additional signs and symptoms of Lujan syndrome can include abnormal speech, |
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heart defects, and abnormalities of the genitourinary system. Many affected |
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individuals have long fingers and toes with an unusually large range of joint |
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movement (hyperextensibility). Seizures and abnormalities of the tissue that |
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connects the left and right halves of the brain (corpus callosum) have also been |
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reported in people with this condition. |
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related-gene-list |
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Lung cancer |
https://ghr.nlm.nih.gov/condition/lung-cancer |
In the United States, it is estimated that more than 221,000 people develop |
html:p |
Lung cancer is a disease in which certain cells in the lungs become abnormal and |
ad |
autosomal dominant |
ALK |
https://ghr.nlm.nih.gov/gene/ALK |
cancer of bronchus |
db |
key |
2015-10 |
2017-12-29 |
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lung cancer each year. An estimated 72 to 80 percent of lung cancer cases occur |
multiply uncontrollably to form a tumor. Lung cancer may or may not cause signs |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
cancer of the lung |
GTR |
C0007131 |
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in tobacco smokers.Approximately 6.6 percent of individuals will develop lung |
or symptoms in its early stages. Some people with lung cancer have chest pain, |
n |
not inherited |
BRAF |
https://ghr.nlm.nih.gov/gene/BRAF |
lung malignancies |
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cancer during their lifetime. It is the leading cause of cancer deaths, |
frequent coughing, breathing problems, trouble swallowing or speaking, blood in |
related-gene |
gene-symbol |
ghr-page |
lung malignant tumors |
GTR |
C0684249 |
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accounting for an estimated 27 percent of all cancer deaths in the United |
the mucus, loss of appetite and weight loss, fatigue, or swelling in the face or |
DDR2 |
https://ghr.nlm.nih.gov/gene/DDR2 |
lung neoplasms |
db |
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States. |
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neck. Lung cancer occurs most often in adults in their sixties or seventies. |
related-gene |
gene-symbol |
ghr-page |
malignant lung tumor |
ICD-10-CM |
C34 |
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Most people who develop lung cancer have a history of long-term tobacco smoking; |
EGFR |
https://ghr.nlm.nih.gov/gene/EGFR |
malignant neoplasm of lung |
db |
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however, the condition can occur in people who have never smoked. |
related-gene |
gene-symbol |
ghr-page |
malignant tumor of lung |
ICD-10-CM |
C34.0 |
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html:p |
Lung cancer is generally divided into two types, small cell lung cancer and |
ERBB2 |
https://ghr.nlm.nih.gov/gene/ERBB2 |
pulmonary cancer |
db |
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non-small cell lung cancer, based on the size of the affected cells when viewed |
related-gene |
gene-symbol |
ghr-page |
pulmonary carcinoma |
ICD-10-CM |
C34.00 |
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under a microscope. Non-small cell lung cancer accounts for 85 percent of lung |
KRAS |
https://ghr.nlm.nih.gov/gene/KRAS |
pulmonary neoplasms |
db |
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cancer, while small cell lung cancer accounts for the remaining 15 percent. |
related-gene |
gene-symbol |
ghr-page |
respiratory carcinoma |
ICD-10-CM |
C34.01 |
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html:p |
Small cell lung cancer grows quickly and often spreads to other tissues |
MAP2K1 |
https://ghr.nlm.nih.gov/gene/MAP2K1 |
db |
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(metastasizes), most commonly to the adrenal glands (small hormone-producing |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
C34.1 |
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glands located on top of each kidney), liver, brain, and bones. In more than |
NRAS |
https://ghr.nlm.nih.gov/gene/NRAS |
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half of cases, the small cell lung cancer has spread beyond the lung at the time |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
C34.02 |
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of diagnosis. After diagnosis, most people with small cell lung cancer survive |
PIK3CA |
https://ghr.nlm.nih.gov/gene/PIK3CA |
db |
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for about one year; less than seven percent survive 5 years. |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
C34.2 |
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html:p |
Non-small cell lung cancer is divided into three main subtypes: adenocarcinoma, |
PTEN |
https://ghr.nlm.nih.gov/gene/PTEN |
db |
key |
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squamous cell carcinoma, and large cell lung carcinoma. Adenocarcinoma arises |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
C34.3 |
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from the cells that line the small air sacs (alveoli) located throughout the |
RET |
https://ghr.nlm.nih.gov/gene/RET |
db |
key |
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lungs. Squamous cell carcinoma arises from the squamous cells that line the |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
C34.9 |
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passages leading from the windpipe to the lungs (bronchi). Large cell carcinoma |
RIT1 |
https://ghr.nlm.nih.gov/gene/RIT1 |
db |
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describes non-small cell lung cancers that do not appear to be adenocarcinomas |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
C34.10 |
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or squamous cell carcinomas. As the name suggests, the tumor cells are large |
ROS1 |
https://ghr.nlm.nih.gov/gene/ROS1 |
db |
key |
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when viewed under a microscope. The 5-year survival rate for people with |
ICD-10-CM |
C34.11 |
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non-small cell lung cancer is usually between 11 and 17 percent; it can be lower |
db |
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or higher depending on the subtype and stage of the cancer. |
|
ICD-10-CM |
C34.12 |
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key |
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ICD-10-CM |
C34.30 |
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db |
key |
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ICD-10-CM |
C34.31 |
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key |
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ICD-10-CM |
C34.32 |
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db |
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ICD-10-CM |
C34.90 |
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db |
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ICD-10-CM |
C34.91 |
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db |
key |
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ICD-10-CM |
C34.92 |
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db |
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MeSH |
D002289 |
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db |
key |
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MeSH |
D008175 |
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db |
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MeSH |
D055752 |
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db |
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OMIM |
211980 |
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db |
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Orphanet |
70573 |
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db |
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related-gene-list |
|
SNOMED CT |
363358000 |
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Lymphangioleiomyomatosis |
https://ghr.nlm.nih.gov/condition/lymphangioleiomyomatosis |
LAM occurs in approximately 30 percent of women with tuberous sclerosis |
html:p |
Lymphangioleiomyomatosis (LAM) is a condition that affects the lungs, the |
n |
not inherited |
TSC1 |
https://ghr.nlm.nih.gov/gene/TSC1 |
LAM |
db |
key |
2017-03 |
2017-12-29 |
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淋巴管平滑肌增生症 |
complex. Sporadic LAM, which occurs without tuberous sclerosis complex, is |
kidneys, and the lymphatic system. The lymphatic system consists of a network of |
related-gene |
gene-symbol |
ghr-page |
lymphangiomyomatosis |
GTR |
C0751674 |
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(Cancer) |
|
estimated to affect 3.3 to 7.4 per million women worldwide. This condition may |
vessels that transport lymph fluid and immune cells throughout the body. Lymph |
TSC2 |
https://ghr.nlm.nih.gov/gene/TSC2 |
db |
key |
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be underdiagnosed because its symptoms are similar to those of other lung |
fluid helps exchange immune cells, proteins, and other substances between the |
ICD-10-CM |
J84.81 |
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disorders such as asthma, bronchitis, and chronic obstructive pulmonary disease. |
blood and tissues. |
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html:p |
LAM is found almost exclusively in women. It often occurs as a feature of an |
MeSH |
D018192 |
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inherited syndrome called tuberous sclerosis complex. When LAM occurs alone it |
db |
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is called isolated or sporadic LAM. |
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OMIM |
606690 |
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html:p |
Signs and symptoms of LAM most often appear during a woman's thirties. Affected |
db |
key |
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women have an overgrowth of abnormal smooth muscle-like cells (LAM cells) in the |
Orphanet |
538 |
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lungs, resulting in the formation of lung cysts and the destruction of normal |
db |
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lung tissue. They may also have an accumulation of fluid in the cavity around |
SNOMED CT |
277844007 |
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the lungs (chylothorax). |
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html:p |
The lung abnormalities resulting from LAM may cause difficulty breathing |
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(dyspnea), chest pain, and coughing, which may bring up blood (hemoptysis). Many |
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women with this disorder have recurrent episodes of collapsed lung (spontaneous |
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pneumothorax). The lung problems may be progressive and, without lung |
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transplantation, may eventually lead to limitations in activities of daily |
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living, the need for oxygen therapy, and respiratory failure. Although LAM cells |
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are not considered cancerous, they may spread between tissues (metastasize). As |
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a result, the condition may recur even after lung transplantation. |
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html:p |
Women with LAM may develop cysts in the lymphatic vessels of the chest and |
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abdomen. These cysts are called lymphangioleiomyomas. Affected women may also |
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develop tumors called angiomyolipomas made up of LAM cells, fat cells, and blood |
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vessels. Angiomyolipomas usually develop in the kidneys. Internal bleeding is a |
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common complication of angiomyolipomas. |
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related-gene-list |
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Lymphedema-distichiasis syndrome |
https://ghr.nlm.nih.gov/condition/lymphedema-distichiasis-syndrome |
The prevalence of lymphedema-distichiasis syndrome is unknown. Because |
html:p |
Lymphedema-distichiasis syndrome is a condition that affects the normal function |
ad |
autosomal dominant |
FOXC2 |
https://ghr.nlm.nih.gov/gene/FOXC2 |
distichiasis-lymphedema syndrome |
db |
key |
2014-02 |
2017-12-29 |
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the extra eyelashes can be overlooked during a medical examination, researchers |
of the lymphatic system, which is a part of the circulatory and immune systems. |
lymphedema with distichiasis |
GTR |
C0265345 |
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believe that some people with this condition may be misdiagnosed as having |
The lymphatic system produces and transports fluids and immune cells throughout |
db |
key |
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lymphedema only. |
the body. People with lymphedema-distichiasis syndrome develop puffiness or |
GeneReviews |
lds |
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swelling (lymphedema) of the limbs, typically the legs and feet. Another |
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key |
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characteristic of this syndrome is the growth of extra eyelashes (distichiasis), |
MeSH |
D008209 |
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ranging from a few extra eyelashes to a full extra set on both the upper and |
db |
key |
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lower lids. These eyelashes do not grow along the edge of the eyelid, but out |
OMIM |
153400 |
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of its inner lining. When the abnormal eyelashes touch the eyeball, they can |
db |
key |
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cause damage to the clear covering of the eye (cornea). Related eye problems can |
Orphanet |
33001 |
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include an irregular curvature of the cornea causing blurred vision |
db |
key |
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(astigmatism) or scarring of the cornea. Other health problems associated with |
SNOMED CT |
8634009 |
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this disorder include swollen and knotted (varicose) veins, droopy eyelids |
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(ptosis), heart abnormalities, and an opening in the roof of the mouth (a cleft |
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palate). |
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html:p |
All people with lymphedema-distichiasis syndrome have extra eyelashes present at |
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birth. The age of onset of lymphedema varies, but it most often begins during |
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puberty. Males usually develop lymphedema earlier than females, but all affected |
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individuals will develop lymphedema by the time they are in their forties. |
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related-gene-list |
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Lynch syndrome |
https://ghr.nlm.nih.gov/condition/lynch-syndrome |
In the United States, about 140,000 new cases of colorectal cancer are |
html:p |
Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), |
ad |
autosomal dominant |
EPCAM |
https://ghr.nlm.nih.gov/gene/EPCAM |
cancer family syndrome |
db |
key |
2013-05 |
2017-12-29 |
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(Cancer) |
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diagnosed each year. Approximately 3 to 5 percent of these cancers are caused by |
is an inherited disorder that increases the risk of many types of cancer, |
related-gene |
gene-symbol |
ghr-page |
familial nonpolyposis colon cancer |
GTR |
C1333990 |
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Lynch综合症 |
Lynch syndrome. |
particularly cancers of the colon (large intestine) and rectum, which are |
MLH1 |
https://ghr.nlm.nih.gov/gene/MLH1 |
hereditary nonpolyposis colorectal cancer |
db |
key |
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collectively referred to as colorectal cancer. People with Lynch syndrome also |
related-gene |
gene-symbol |
ghr-page |
hereditary nonpolyposis colorectal neoplasms |
GTR |
C1333991 |
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have an increased risk of cancers of the stomach, small intestine, liver, |
MSH2 |
https://ghr.nlm.nih.gov/gene/MSH2 |
HNPCC |
db |
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gallbladder ducts, upper urinary tract, brain, and skin. Additionally, women |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1833477 |
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with this disorder have a high risk of cancer of the ovaries and lining of the |
MSH6 |
https://ghr.nlm.nih.gov/gene/MSH6 |
db |
key |
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uterus (the endometrium). People with Lynch syndrome may occasionally have |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1838333 |
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noncancerous (benign) growths (polyps) in the colon, called colon polyps. In |
PMS2 |
https://ghr.nlm.nih.gov/gene/PMS2 |
db |
key |
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individuals with this disorder, colon polyps occur earlier but not in greater |
GTR |
C1838344 |
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numbers than they do in the general population. |
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db |
key |
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GTR |
C2750471 |
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db |
key |
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GTR |
C2936783 |
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db |
key |
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GeneReviews |
hnpcc |
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db |
key |
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MeSH |
D003123 |
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db |
key |
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OMIM |
114500 |
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db |
key |
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OMIM |
120435 |
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db |
key |
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Orphanet |
144 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
716318002 |
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Lysinuric protein intolerance |
https://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance |
Lysinuric protein intolerance is estimated to occur in 1 in 60,000 newborns |
html:p |
Lysinuric protein intolerance is a disorder caused by the body's inability to |
ar |
autosomal recessive |
SLC7A7 |
https://ghr.nlm.nih.gov/gene/SLC7A7 |
Congenital lysinuria |
db |
key |
2008-03 |
2017-12-29 |
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賴氨酸蛋白不耐受 |
in Finland and 1 in 57,000 newborns in Japan. Outside these populations this |
digest and use certain protein building blocks (amino acids), namely lysine, |
Hyperdibasic aminoaciduria |
GTR |
C0268647 |
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condition occurs less frequently, but the exact incidence is unknown. |
arginine, and ornithine. Because the body cannot effectively break down these |
LPI |
db |
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amino acids, which are found in many protein-rich foods, nausea and vomiting are |
LPI - Lysinuric protein intolerance |
GeneReviews |
lpi |
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typically experienced after ingesting protein. |
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db |
key |
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html:p |
People with lysinuric protein intolerance have features associated with protein |
MeSH |
D020157 |
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intolerance, including an enlarged liver and spleen (hepatosplenomegaly), short |
db |
key |
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stature, muscle weakness, impaired immune function, and progressively brittle |
OMIM |
222700 |
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bones that are prone to fracture (osteoporosis). A lung disorder called |
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db |
key |
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pulmonary alveolar proteinosis may also develop. This disorder is characterized |
Orphanet |
470 |
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by protein deposits in the lungs, which interfere with lung function and can be |
db |
key |
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life-threatening. An accumulation of amino acids in the kidneys can cause |
SNOMED CT |
303852004 |
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end-stage renal disease (ESRD) in which the kidneys become unable to filter |
db |
key |
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fluids and waste products from the body effectively. A lack of certain amino |
SNOMED CT |
50056009 |
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acids can cause elevated levels of ammonia in the blood. If ammonia levels are |
db |
key |
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too high for too long, they can cause coma and intellectual disability. |
SNOMED CT |
71751002 |
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html:p |
The signs and symptoms of lysinuric protein intolerance typically appear after |
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infants are weaned and receive greater amounts of protein from solid foods. |
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related-gene-list |
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Lysosomal acid lipase deficiency |
https://ghr.nlm.nih.gov/condition/lysosomal-acid-lipase-deficiency |
Lysosomal acid lipase deficiency is estimated to occur in 1 in 40,000 to |
html:p |
Lysosomal acid lipase deficiency is an inherited condition characterized by |
ar |
autosomal recessive |
LIPA |
https://ghr.nlm.nih.gov/gene/LIPA |
acid esterase deficiency |
db |
key |
2017-02 |
2017-12-29 |
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溶酶體酸性脂肪酶缺乏症 |
300,000 individuals, varying by population. The later-onset form is more common |
problems with the breakdown and use of fats and cholesterol in the body (lipid |
acid lipase deficiency |
GTR |
C0043208 |
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than the early-onset form. |
metabolism). In affected individuals, harmful amounts of fats (lipids) |
familial visceral xanthomatosis |
db |
key |
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accumulate in cells and tissues throughout the body, which typically causes |
familial xanthomatosis |
GeneReviews |
lal-def |
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liver disease. There are two forms of the condition. The most severe and rarest |
LAL deficiency |
db |
key |
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form begins in infancy. The less severe form can begin from childhood to late |
LIPA deficiency |
MeSH |
D015223 |
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adulthood. |
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primary familial xanthomatosis |
db |
key |
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html:p |
In the severe, early-onset form of lysosomal acid lipase deficiency, lipids |
primary familial xanthomatosis with adrenal calcification |
OMIM |
278000 |
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accumulate throughout the body, particularly in the liver, within the first |
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db |
key |
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weeks of life. This accumulation of lipids leads to several health problems, |
Orphanet |
275761 |
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including an enlarged liver and spleen (hepatosplenomegaly), poor weight gain, a |
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yellow tint to the skin and the whites of the eyes (jaundice), vomiting, |
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Orphanet |
75233 |
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diarrhea, fatty stool (steatorrhea), and poor absorption of nutrients from food |
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(malabsorption). In addition, affected infants often have calcium deposits in |
Orphanet |
75234 |
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small hormone-producing glands on top of each kidney (adrenal glands), low |
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amounts of iron in the blood (anemia), and developmental delay. Scar tissue |
SNOMED CT |
715923003 |
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quickly builds up in the liver, leading to liver disease (cirrhosis). Infants |
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with this form of lysosomal acid lipase deficiency develop multi-organ failure |
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and severe malnutrition and generally do not survive past 1 year. |
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html:p |
In the later-onset form of lysosomal acid lipase deficiency, signs and symptoms |
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vary and usually begin in mid-childhood, although they can appear anytime up to |
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late adulthood. Nearly all affected individuals develop an enlarged liver |
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(hepatomegaly); an enlarged spleen (splenomegaly) may also occur. About |
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two-thirds of individuals have liver fibrosis, eventually leading to cirrhosis. |
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Approximately one-third of individuals with the later-onset form have |
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malabsorption, diarrhea, vomiting, and steatorrhea. Individuals with this form |
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of lysosomal acid lipase deficiency may have increased liver enzymes and high |
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cholesterol levels, which can be detected with blood tests. |
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html:p |
Some people with this later-onset form of lysosomal acid lipase deficiency |
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develop an accumulation of fatty deposits on the artery walls (atherosclerosis). |
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Although these deposits are common in the general population, they usually |
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begin at an earlier age in people with lysosomal acid lipase deficiency. The |
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deposits narrow the arteries, increasing the chance of heart attack or stroke. |
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The expected lifespan of individuals with later-onset lysosomal acid lipase |
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deficiency depends on the severity of the associated health problems. |
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html:p |
The two forms of lysosomal acid lipase deficiency were once thought to be |
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Infantile Form Lysosomal Acid Lipase Deficiency (Wolman Disease) |
separate disorders. The early-onset form was known as Wolman disease, and the |
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嬰兒型溶酶體酸性脂肪酶缺乏症 (又稱伍爾曼氏症) |
later-onset form was known as cholesteryl ester storage disease. Although these |
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cholesteryl ester storage disease |
two disorders have the same genetic cause and are now considered to be forms of |
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後發溶酶體酸性脂肪酶缺乏症 (又稱伍爾曼氏症) |
a single condition, these names are still sometimes used to distinguish between |
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the forms of lysosomal acid lipase deficiency. |
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related-gene-list |
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Mabry syndrome |
https://ghr.nlm.nih.gov/condition/mabry-syndrome |
Mabry syndrome is likely a rare condition, but its prevalence is unknown. |
html:p |
Mabry syndrome is a condition characterized by intellectual disability, |
ar |
autosomal recessive |
PGAP2 |
https://ghr.nlm.nih.gov/gene/PGAP2 |
hyperphosphatasia with mental retardation syndrome |
db |
key |
2013-08 |
2017-12-29 |
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More than 20 cases have been described in the scientific literature. |
distinctive facial features, increased levels of an enzyme called alkaline |
related-gene |
gene-symbol |
ghr-page |
hyperphosphatasia with seizures and neurologic deficit |
GTR |
C1855923 |
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phosphatase in the blood (hyperphosphatasia), and other signs and symptoms. |
PIGO |
https://ghr.nlm.nih.gov/gene/PIGO |
db |
key |
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html:p |
People with Mabry syndrome have intellectual disability that is often moderate |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3280153 |
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to severe. They typically have little to no speech development and are delayed |
PIGV |
https://ghr.nlm.nih.gov/gene/PIGV |
db |
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in the development of motor skills (such as sitting, crawling, and walking). |
GTR |
C3553637 |
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Many affected individuals have low muscle tone (hypotonia) and develop recurrent |
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seizures (epilepsy) in early childhood. Seizures are usually the generalized |
GTR |
CN168513 |
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tonic-clonic type, which involve muscle rigidity, convulsions, and loss of |
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consciousness. |
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MeSH |
D054559 |
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html:p |
Individuals with Mabry syndrome have distinctive facial features that include |
db |
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wide-set eyes (hypertelorism), long openings of the eyelids (long palpebral |
OMIM |
239300 |
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fissures), a nose with a broad bridge and a rounded tip, downturned corners of |
db |
key |
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the mouth, and a thin upper lip. These facial features usually become less |
OMIM |
614207 |
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pronounced over time. |
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html:p |
Hyperphosphatasia begins within the first year of life in people with Mabry |
OMIM |
614749 |
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syndrome. There are many different types of alkaline phosphatase found in |
db |
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tissues; the type that is increased in Mabry syndrome is called the tissue |
Orphanet |
247262 |
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non-specific type and is found throughout the body. In affected individuals, |
db |
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alkaline phosphatase levels in the blood are usually increased by one to two |
SNOMED CT |
33982008 |
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times the normal amount, but can be up to 20 times higher than normal. The |
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elevated enzyme levels remain relatively stable over a person's lifetime. |
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Hyperphosphatasia appears to cause no negative health effects, but this finding |
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can help health professionals diagnose Mabry syndrome. |
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html:p |
Another common feature of Mabry syndrome is shortened bones at the ends of |
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fingers (brachytelephalangy), which can be seen on x-ray imaging. Underdeveloped |
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fingernails (nail hypoplasia) may also occur. Sometimes, individuals with Mabry |
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syndrome have abnormalities of the digestive system, including narrowing or |
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blockage of the anus (anal stenosis or anal atresia) or Hirschsprung disease, a |
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disorder that causes severe constipation or blockage of the intestine. Rarely, |
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affected individuals experience hearing loss. |
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html:p |
The signs and symptoms of Mabry syndrome vary among affected individuals. Those |
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who are least severely affected have only intellectual disability and |
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hyperphosphatasia, without distinctive facial features or the other health |
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problems listed above. |
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related-gene-list |
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Macrozoospermia |
https://ghr.nlm.nih.gov/condition/macrozoospermia |
Macrozoospermia is estimated to affect 1 in 10,000 males in North Africa. |
html:p |
Macrozoospermia is a condition that affects only males. It is characterized by |
ar |
autosomal recessive |
AURKC |
https://ghr.nlm.nih.gov/gene/AURKC |
infertility associated with multi-tailed spermatozoa and excessive DNA |
db |
key |
2015-01 |
2017-12-29 |
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大头精子畸形 |
The prevalence of the condition outside this region is unknown. |
abnormal sperm and leads to an inability to father biological children |
large-headed multiflagellar polyploid spermatozoa |
GTR |
C0403812 |
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(infertility). |
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spermatogenic failure 5 |
db |
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html:p |
In affected males, almost all sperm cells have abnormally large and misshapen |
MeSH |
D000072660 |
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heads. The head of the sperm cell contains the male's genetic information that |
db |
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is to be passed on to the next generation. Normally, the head of a sperm cell |
OMIM |
243060 |
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contains one copy of each chromosome. In men with macrozoospermia, the sperm |
db |
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cell head contains extra chromosomes, usually four copies of each instead of the |
SNOMED CT |
236817003 |
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usual one. This additional genetic material accounts for the larger head size |
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of the sperm cell. Additionally, instead of having one tail (flagellum) per |
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sperm cell, affected sperm have multiple flagella, most often four. |
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html:p |
Because of the additional genetic material, if one of these abnormal sperm cells |
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combines with an egg cell, the embryo will not develop or the pregnancy will |
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result in miscarriage. |
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related-gene-list |
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Maffucci syndrome |
https://ghr.nlm.nih.gov/condition/maffucci-syndrome |
Maffucci syndrome is very rare. Since it was first described in 1881, fewer |
html:p |
Maffucci syndrome is a disorder that primarily affects the bones and skin. It is |
n |
not inherited |
IDH1 |
https://ghr.nlm.nih.gov/gene/IDH1 |
chondrodysplasia with hemangioma |
db |
key |
2016-02 |
2017-12-29 |
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Maffucci綜合徵 |
than 200 cases have been reported worldwide. |
characterized by multiple enchondromas, which are noncancerous (benign) growths |
related-gene |
gene-symbol |
ghr-page |
chondroplasia angiomatosis |
GTR |
C0024454 |
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of cartilage that develop within the bones. These growths most commonly occur |
IDH2 |
https://ghr.nlm.nih.gov/gene/IDH2 |
dyschondroplasia and cavernous hemangioma |
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in the limb bones, especially in the bones of the hands and feet; however, they |
enchondromatosis with hemangiomata |
MeSH |
D004687 |
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may also occur in the skull, ribs, and bones of the spine (vertebrae). |
hemangiomata with dyschondroplasia |
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Enchondromas may result in severe bone deformities, shortening of the limbs, and |
hemangiomatosis chondrodystrophica |
OMIM |
614569 |
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fractures. |
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Kast syndrome |
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html:p |
The signs and symptoms of Maffucci syndrome may be detectable at birth, although |
multiple angiomas and endochondromas |
Orphanet |
163634 |
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they generally do not become apparent until around the age of 5. Enchondromas |
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develop near the ends of bones, where normal growth occurs, and they frequently |
SNOMED CT |
46041001 |
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stop forming after affected individuals stop growing in early adulthood. As a |
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result of the bone deformities associated with Maffucci syndrome, people with |
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this disorder generally have short stature and underdeveloped muscles. |
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html:p |
Maffucci syndrome is distinguished from a similar disorder that involves |
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enchondromas (Ollier disease) by the presence of red or purplish growths in the |
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skin consisting of tangles of abnormal blood vessels (hemangiomas). In addition |
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to hemangiomas, individuals with Maffucci syndrome occasionally also have |
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lymphangiomas, which are masses made up of the thin tubes that carry lymph fluid |
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(lymphatic vessels). These growths may appear anywhere on the body. |
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html:p |
Although the enchondromas associated with Maffucci syndrome start out as benign, |
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they may become cancerous (malignant). In particular, affected individuals may |
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develop bone cancers called chondrosarcomas, especially in the skull. People |
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with Maffucci syndrome also have an increased risk of other cancers, such as |
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ovarian or liver cancer. |
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html:p |
People with Maffucci syndrome usually have a normal lifespan, and intelligence |
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is unaffected. The extent of their physical impairment depends on their |
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individual skeletal deformities, but in most cases they have no major |
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limitations in their activities. |
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related-gene-list |
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Mainzer-Saldino syndrome |
https://ghr.nlm.nih.gov/condition/mainzer-saldino-syndrome |
Mainzer-Saldino syndrome is a rare disorder; its prevalence is unknown. At |
html:p |
Mainzer-Saldino syndrome is a disorder characterized by kidney disease, eye |
ar |
autosomal recessive |
IFT140 |
https://ghr.nlm.nih.gov/gene/IFT140 |
conorenal dysplasia |
db |
key |
2013-05 |
2017-12-29 |
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least 20 cases have been reported. |
problems, and skeletal abnormalities. |
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conorenal syndrome |
GTR |
C1849437 |
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html:p |
People with Mainzer-Saldino syndrome have chronic kidney disease that begins in |
Mainzer-Saldino chondrodysplasia |
db |
key |
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childhood and gets worse over time. The rate at which the kidney disease worsens |
Mainzer-Saldino disease |
MeSH |
D052177 |
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is variable, but the condition eventually leads to kidney failure in most |
MZSDS |
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affected individuals. |
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renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal |
OMIM |
266920 |
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html:p |
Degeneration of the light-sensitive tissue at the back of the eye (the retina) |
dysplasia |
db |
key |
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almost always occurs in this disorder, but the age at which this feature |
Saldino-Mainzer dysplasia |
Orphanet |
140969 |
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develops varies. Some affected individuals are blind or have severe vision |
Saldino-Mainzer syndrome |
db |
key |
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impairment beginning in infancy, with the pattern of vision loss resembling a |
short-rib thoracic dysplasia 9 |
SNOMED CT |
254092004 |
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condition called Leber congenital amaurosis. In other people with |
SRTD9 |
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Mainzer-Saldino syndrome, the retinal degeneration begins in childhood, but some |
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vision is retained into early adulthood. The vision loss in these affected |
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individuals resembles a category of retinal disorders called rod-cone |
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dystrophies. The most common rod-cone dystrophy is called retinitis pigmentosa, |
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and the vision problems in Mainzer-Saldino syndrome are sometimes referred to as |
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such. However, the abnormal deposits of pigment in the retina from which |
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retinitis pigmentosa gets its name are often not found in Mainzer-Saldino |
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syndrome. As a result, some researchers use terms such as "atypical retinitis |
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pigmentosa without pigment" to describe the retinal degeneration that occurs in |
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Mainzer-Saldino syndrome. |
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html:p |
The skeletal abnormality most characteristic of Mainzer-Saldino syndrome |
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consists of cone-shaped ends of the bones (epiphyses) in the fingers (phalanges) |
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that can be seen on x-ray images after the first year of life. Affected |
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individuals may also have abnormalities of the thigh bones that occur in the |
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epiphyses and adjacent areas where bone growth occurs (the metaphyses). |
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Occasionally, other skeletal abnormalities occur, including short stature and |
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premature fusion of certain skull bones (craniosynostosis) that affects the |
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shape of the head and face. Affected individuals may also have a small rib cage, |
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which sometimes causes breathing problems in infancy, but the breathing |
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problems are usually mild. |
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html:p |
A small number of individuals with this disorder have additional problems |
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affecting other organs. These can include liver disease resulting in a buildup |
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of scar tissue in the liver (hepatic fibrosis); cerebellar ataxia, which is |
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difficulty with coordination and balance arising from problems with a part of |
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the brain called the cerebellum; and mild intellectual disability. |
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related-gene-list |
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Majeed syndrome |
https://ghr.nlm.nih.gov/condition/majeed-syndrome |
Majeed syndrome appears to be very rare; it has been reported in three |
html:p |
Majeed syndrome is a rare condition characterized by recurrent episodes of fever |
ar |
autosomal recessive |
LPIN2 |
https://ghr.nlm.nih.gov/gene/LPIN2 |
chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia, |
db |
key |
2009-08 |
2017-12-29 |
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families, all from the Middle East. |
and inflammation in the bones and skin. |
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and neutrophilic dermatosis |
GTR |
C1864997 |
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html:p |
One of the major features of Majeed syndrome is an inflammatory bone condition |
db |
key |
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known as chronic recurrent multifocal osteomyelitis (CRMO). This condition |
GeneReviews |
majeed |
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causes recurrent episodes of pain and joint swelling beginning in infancy or |
db |
key |
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early childhood. These symptoms persist into adulthood, although they may |
MeSH |
D010019 |
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improve for short periods. CRMO can lead to complications such as slow growth |
db |
key |
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and the development of joint deformities called contractures, which restrict the |
OMIM |
609628 |
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movement of certain joints. |
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key |
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html:p |
Another feature of Majeed syndrome is a blood disorder called congenital |
Orphanet |
77297 |
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dyserythropoietic anemia. This disorder is one of many types of anemia, all of |
db |
key |
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which involve a shortage of red blood cells. Without enough of these cells, the |
SNOMED CT |
703540008 |
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blood cannot carry an adequate supply of oxygen to the body's tissues. The |
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resulting symptoms can include tiredness (fatigue), weakness, pale skin, and |
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shortness of breath. Complications of congenital dyserythropoietic anemia can |
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range from mild to severe. |
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html:p |
Most people with Majeed syndrome also develop inflammatory disorders of the |
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skin, most often a condition known as Sweet syndrome. The symptoms of Sweet |
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syndrome include fever and the development of painful bumps or blisters on the |
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face, neck, back, and arms. |
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related-gene-list |
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Mal de Meleda |
https://ghr.nlm.nih.gov/condition/mal-de-meleda |
Mal de Meleda is a rare disorder; its prevalence is unknown. The disorder |
html:p |
Mal de Meleda is a rare skin disorder that begins in early infancy. Affected |
ar |
autosomal recessive |
SLURP1 |
https://ghr.nlm.nih.gov/gene/SLURP1 |
acroerythrokeratoderma |
db |
key |
2014-11 |
2017-12-29 |
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Meleda disease |
was first identified on the Croatian island of Mljet (called Meleda in Italian) |
individuals have a condition known as palmoplantar keratoderma, in which the |
keratosis palmoplantaris transgrediens of Siemens |
GTR |
C0025221 |
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Meleda島病 |
and has since been found in populations worldwide. |
skin of the palms of the hands and soles of the feet becomes thick, hard, and |
Meleda disease (Meleda岛病) |
db |
key |
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callused. In mal de Meleda, the thickened skin is also found on the back of the |
transgrediens palmoplantar keratoderma of Siemens |
MeSH |
D007645 |
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hands and feet and on the wrists and ankles. In addition, affected individuals |
db |
key |
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may have rough, thick pads on the joints of the fingers and toes and on the |
OMIM |
248300 |
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elbows and knees. Some people with mal de Meleda have recurrent fungal |
db |
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infections in the thickened skin, which can lead to a strong odor. Other |
|
Orphanet |
87503 |
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features of this disorder can include short fingers and toes (brachydactyly), |
db |
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nail abnormalities, red skin around the mouth, and excessive sweating |
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SNOMED CT |
239069005 |
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(hyperhidrosis). |
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related-gene-list |
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Malignant hyperthermia |
https://ghr.nlm.nih.gov/condition/malignant-hyperthermia |
Malignant hyperthermia occurs in 1 in 5,000 to 50,000 instances in which |
html:p |
Malignant hyperthermia is a severe reaction to particular drugs that are often |
ad |
autosomal dominant |
CACNA1S |
https://ghr.nlm.nih.gov/gene/CACNA1S |
anesthesia related hyperthermia |
db |
key |
2007-10 |
2017-12-29 |
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惡性高熱 |
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people are given anesthetic gases. Susceptibility to malignant hyperthermia is |
used during surgery and other invasive procedures. Specifically, this reaction |
related-gene |
gene-symbol |
ghr-page |
Hyperpyrexia, Malignant |
GTR |
C1835161 |
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致命高熱 |
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probably more frequent, because many people with an increased risk of this |
occurs in response to some anesthetic gases, which are used to block the |
CACNA2D1 |
https://ghr.nlm.nih.gov/gene/CACNA2D1 |
Hyperthermia, Malignant |
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condition are never exposed to drugs that trigger a reaction. |
sensation of pain, and with a muscle relaxant that is used to temporarily |
related-gene |
gene-symbol |
ghr-page |
Malignant Hyperpyrexia |
GTR |
C1838102 |
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paralyze a person during a surgical procedure. If given these drugs, people at |
RYR1 |
https://ghr.nlm.nih.gov/gene/RYR1 |
MHS - Malignant hyperthermia |
db |
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risk for malignant hyperthermia may experience muscle rigidity, breakdown of |
GTR |
C1866076 |
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muscle fibers (rhabdomyolysis), a high fever, increased acid levels in the blood |
db |
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and other tissues (acidosis), and a rapid heart rate. Without prompt treatment, |
GTR |
C2930982 |
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the complications of malignant hyperthermia can be life-threatening. |
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html:p |
People at increased risk for this disorder are said to have malignant |
|
GTR |
C2930984 |
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hyperthermia susceptibility. Affected individuals may never know they have the |
db |
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condition unless they undergo testing or have a severe reaction to anesthesia |
GTR |
CN031421 |
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during a surgical procedure. While this condition often occurs in people without |
db |
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other serious medical problems, certain inherited muscle diseases (including |
GeneReviews |
mhs |
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central core disease and multiminicore disease) are associated with malignant |
db |
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hyperthermia susceptibility. |
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ICD-10-CM |
T88.3 |
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db |
key |
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MeSH |
D008305 |
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db |
key |
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OMIM |
145600 |
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db |
key |
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OMIM |
154275 |
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db |
key |
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OMIM |
154276 |
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db |
key |
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OMIM |
600467 |
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db |
key |
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OMIM |
601887 |
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db |
key |
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OMIM |
601888 |
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db |
key |
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Orphanet |
423 |
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db |
key |
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SNOMED CT |
213026003 |
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db |
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related-gene-list |
|
SNOMED CT |
405501007 |
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Malignant migrating partial seizures of infancy |
https://ghr.nlm.nih.gov/condition/malignant-migrating-partial-seizures-of-infanc |
MMPSI is a rare condition. Although its prevalence is unknown, |
html:p |
Malignant migrating partial seizures of infancy (MMPSI) is a severe form of |
n |
not inherited |
KCNT1 |
https://ghr.nlm.nih.gov/gene/KCNT1 |
early infantile epileptic encephalopathy 14 |
db |
key |
2014-03 |
2017-12-29 |
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|
y |
approximately 100 cases have been described in the medical literature. |
epilepsy that begins very early in life. Recurrent seizures begin before the age |
related-gene |
gene-symbol |
ghr-page |
EIEE14 |
GTR |
C3554195 |
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of 6 months but commonly start within a few weeks of birth. The seizures do not |
SCN1A |
https://ghr.nlm.nih.gov/gene/SCN1A |
malignant migrating partial epilepsy of infancy |
db |
key |
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respond well to treatment. Although affected individuals may develop normally |
related-gene |
gene-symbol |
ghr-page |
migrating partial epilepsy of infancy |
MeSH |
D013036 |
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at first, progression stalls and skills decline when seizures begin; as a |
TBC1D24 |
https://ghr.nlm.nih.gov/gene/TBC1D24 |
migrating partial seizures in infancy |
db |
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result, affected individuals have profound developmental delay. |
migrating partial seizures of infancy |
OMIM |
614959 |
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html:p |
The seizures in MMPSI are described as partial (or focal) because the seizure |
MMPSI |
db |
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activity occurs in regions of the brain rather than affecting the entire brain. |
Orphanet |
293181 |
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Seizure activity can appear in multiple locations in the brain or move (migrate) |
db |
key |
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from one region to another during an episode. Depending on the region affected, |
SNOMED CT |
4.3E+14 |
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seizures can involve sudden redness and warmth (flushing) of the face; |
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drooling; short pauses in breathing (apnea); movement of the head or eyes to one |
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side; twitches in the eyelids or tongue; chewing motions; or jerking of an arm, |
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leg, or both on one side of the body. If seizure activity spreads to affect the |
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entire brain, it causes a loss of consciousness, muscle stiffening, and |
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rhythmic jerking (tonic-clonic seizure). Episodes that begin as partial seizures |
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and spread throughout the brain are known as secondarily generalized seizures. |
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html:p |
Initially, the seizures associated with MMPSI are relatively infrequent, |
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occurring every few weeks. Within a few months of the seizures starting, though, |
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the frequency increases. Affected individuals can have clusters of five to 30 |
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seizures several times a day. Each seizure typically lasts seconds to a couple |
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of minutes, but they can be prolonged (classified as status epilepticus). In |
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some cases, the seizure activity may be almost continuous for several days. |
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After a year or more of persistent seizures, the episodes become less frequent. |
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html:p |
Seizures can affect growth of the brain and lead to a small head size |
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(microcephaly). The problems with brain development can also cause profound |
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developmental delay and intellectual impairment. Affected babies often lose the |
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mental and motor skills they developed after birth, such as the ability to make |
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eye contact and control their head movement. Many have weak muscle tone |
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(hypotonia) and become "floppy." If seizures can be controlled for a short |
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period, development may improve. Some affected children learn to reach for |
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objects or walk. However, most children with this condition do not develop |
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language skills. |
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html:p |
Because of the serious health problems caused by MMPSI, many affected |
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individuals do not survive past infancy or early childhood. |
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related-gene-list |
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Malonyl-CoA decarboxylase deficiency |
https://ghr.nlm.nih.gov/condition/malonyl-coa-decarboxylase-deficiency |
This condition is very rare; fewer than 30 cases have been reported. |
html:p |
Malonyl-CoA decarboxylase deficiency is a condition that prevents the body from |
ar |
autosomal recessive |
MLYCD |
https://ghr.nlm.nih.gov/gene/MLYCD |
deficiency of malonyl-CoA decarboxylase |
db |
key |
2010-01 |
2017-12-29 |
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(Metabolic) |
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converting certain fats to energy. The signs and symptoms of this disorder |
malonic aciduria |
GTR |
C0342793 |
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typically appear in early childhood. Almost all affected children have delayed |
malonyl-coenzyme A decarboxylase deficiency |
db |
key |
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development. Additional signs and symptoms can include weak muscle tone |
MCD deficiency |
MeSH |
D008661 |
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(hypotonia), seizures, diarrhea, vomiting, and low blood sugar (hypoglycemia). A |
db |
key |
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heart condition called cardiomyopathy, which weakens and enlarges the heart |
OMIM |
248360 |
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muscle, is another common feature of malonyl-CoA decarboxylase deficiency. |
db |
key |
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Orphanet |
943 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
124594007 |
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Mandibuloacral dysplasia |
https://ghr.nlm.nih.gov/condition/mandibuloacral-dysplasia |
Mandibuloacral dysplasia is a rare condition; its prevalence is unknown. |
html:p |
Mandibuloacral dysplasia is a condition that causes a variety of abnormalities |
ar |
autosomal recessive |
LMNA |
https://ghr.nlm.nih.gov/gene/LMNA |
mandibuloacral dysostosis |
db |
key |
2013-08 |
2017-12-29 |
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颅骨下颌骨皮肤发育不全 |
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involving bone development, skin coloring (pigmentation), and fat distribution. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0432291 |
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People with this condition may grow slowly after birth. Most affected |
ZMPSTE24 |
https://ghr.nlm.nih.gov/gene/ZMPSTE24 |
db |
key |
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individuals are born with an underdeveloped lower jaw bone (mandible) and small |
GTR |
C1837756 |
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collar bones (clavicles), leading to the characteristic features of a small chin |
db |
key |
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and sloped shoulders. Other bone problems include loss of bone from the tips of |
MeSH |
D008060 |
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the fingers (acroosteolysis), which causes bulbous finger tips; delayed closure |
db |
key |
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of certain skull bones; and joint deformities (contractures). |
|
OMIM |
248370 |
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html:p |
People with mandibuloacral dysplasia can have mottled or patchy skin |
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db |
key |
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pigmentation or other skin abnormalities. Some people with this condition have |
OMIM |
608612 |
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features of premature aging (a condition called progeria), such as thin skin, |
db |
key |
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loss of teeth, loss of hair, and a beaked nose. Some individuals with |
Orphanet |
2457 |
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mandibuloacral dysplasia have metabolic problems, such as diabetes. |
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db |
key |
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html:p |
A common feature of mandibuloacral dysplasia is a lack of fatty tissue under the |
SNOMED CT |
109419009 |
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skin (lipodystrophy) in certain regions of the body. The two types of this |
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disorder, mandibuloacral dysplasia with type A lipodystrophy (MADA) and |
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mandibuloacral dysplasia with type B lipodystrophy (MADB) are distinguished by |
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the pattern of fat distribution throughout the body. Type A is described as |
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partial lipodystrophy; affected individuals have a loss of fatty tissue from the |
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torso and limbs, but it may build up around the neck and shoulders. Type B is a |
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generalized lipodystrophy, with loss of fatty tissue in the face, torso, and |
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limbs. |
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html:p |
MADA usually begins in adulthood, although children can be affected. MADB begins |
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earlier, often just after birth. Many babies with MADB are born prematurely. |
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related-gene-list |
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Mandibulofacial dysostosis with microcephaly |
https://ghr.nlm.nih.gov/condition/mandibulofacial-dysostosis-with-microcephaly |
MFDM is a rare disorder; its exact prevalence is unknown. More than 60 |
html:p |
Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder that causes |
ad |
autosomal dominant |
EFTUD2 |
https://ghr.nlm.nih.gov/gene/EFTUD2 |
mandibulofacial dysostosis, Guion-Almeida type |
db |
key |
2014-09 |
2017-12-29 |
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affected individuals have been described in the medical literature. |
abnormalities of the head and face. People with this disorder often have an |
MFDGA |
GTR |
C1864652 |
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unusually small head at birth, and the head does not grow at the same rate as |
MFDM |
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the rest of the body, so it appears that the head is getting smaller as the body |
GeneReviews |
mf-dys-mic |
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grows (progressive microcephaly). Affected individuals have developmental delay |
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and intellectual disability that can range from mild to severe. Speech and |
ICD-10-CM |
Q75.4 |
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language problems are also common in this disorder. |
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html:p |
Facial abnormalities that occur in MFDM include underdevelopment of the middle |
MeSH |
D008342 |
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of the face and the cheekbones (midface and malar hypoplasia) and an unusually |
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small lower jaw (mandibular hypoplasia, also called micrognathia). The external |
OMIM |
610536 |
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ears are small and abnormally shaped, and they may have skin growths in front of |
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them called preauricular tags. There may also be abnormalities of the ear |
Orphanet |
79113 |
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canal, the tiny bones in the ears (ossicles), or a part of the inner ear called |
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the semicircular canals. These ear abnormalities lead to hearing loss in most |
SNOMED CT |
711543008 |
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affected individuals. Some people with MFDM have an opening in the roof of the |
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mouth (cleft palate), which may also contribute to hearing loss by increasing |
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the risk of ear infections. Affected individuals can also have a blockage of the |
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nasal passages (choanal atresia) that can cause respiratory problems. |
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html:p |
Heart problems, abnormalities of the thumbs, and short stature are other |
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features that can occur in MFDM. Some people with this disorder also have |
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blockage of the esophagus (esophageal atresia). In esophageal atresia, the upper |
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esophagus does not connect to the lower esophagus and stomach. Most babies born |
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with esophageal atresia (EA) also have a tracheoesophageal fistula (TEF), in |
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which the esophagus and the trachea are abnormally connected, allowing fluids |
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from the esophagus to get into the airways and interfere with breathing. |
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Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening |
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condition; without treatment, it prevents normal feeding and can cause lung |
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damage from repeated exposure to esophageal fluids. |
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related-gene-list |
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Manitoba oculotrichoanal syndrome |
https://ghr.nlm.nih.gov/condition/manitoba-oculotrichoanal-syndrome |
Manitoba oculotrichoanal syndrome is estimated to occur in 2 to 6 in 1,000 |
html:p |
Manitoba oculotrichoanal syndrome is a condition involving several |
ar |
autosomal recessive |
FREM1 |
https://ghr.nlm.nih.gov/gene/FREM1 |
Marles-Greenberg-Persaud syndrome |
db |
key |
2011-05 |
2017-12-29 |
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曼尼托巴省Oculotrichoanal综合症 |
people in a small isolated Ojibway-Cree community in northern Manitoba, Canada. |
characteristic physical features, particularly affecting the eyes (oculo-), hair |
Marles Greenberg Persaud syndrome |
GTR |
C1855425 |
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Although this region has the highest incidence of the condition, it has also |
(tricho-), and anus (-anal). |
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Marles syndrome |
db |
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been diagnosed in a few people from other parts of the world. |
html:p |
People with Manitoba oculotrichoanal syndrome have widely spaced eyes |
MOTA |
GeneReviews |
mota |
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(hypertelorism). They may also have other eye abnormalities including small eyes |
db |
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(microphthalmia), a notched or partially absent upper eyelid (upper eyelid |
MeSH |
D000015 |
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coloboma), eyelids that are attached to the front surface of the eye |
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(corneopalpebral synechiae), or eyes that are completely covered by skin and |
OMIM |
248450 |
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usually malformed (cryptophthalmos). These abnormalities may affect one or both |
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eyes. |
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SNOMED CT |
703539006 |
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html:p |
Individuals with Manitoba oculotrichoanal syndrome usually have abnormalities of |
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the front hairline, such as hair growth extending from the temple to the eye on |
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one or both sides of the face. One or both eyebrows may be completely or |
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partially missing. Most people with this disorder also have a wide nose with a |
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notched tip; in some cases this notch extends up from the tip so that the nose |
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appears to be divided into two halves (bifid nose). |
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html:p |
About 20 percent of people with Manitoba oculotrichoanal syndrome have defects |
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in the abdominal wall, such as a soft out-pouching around the belly-button (an |
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umbilical hernia) or an opening in the wall of the abdomen (an omphalocele) that |
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allows the abdominal organs to protrude through the navel. Another |
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characteristic feature of Manitoba oculotrichoanal syndrome is a narrow anus |
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(anal stenosis) or an anal opening farther forward than usual. Umbilical wall |
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defects or anal malformations may require surgical correction. Some affected |
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individuals also have malformations of the kidneys. |
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html:p |
The severity of the features of Manitoba oculotrichoanal syndrome may vary even |
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within the same family. With appropriate treatment, affected individuals |
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generally have normal growth and development, intelligence, and life expectancy. |
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related-gene-list |
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Mannose-binding lectin deficiency |
https://ghr.nlm.nih.gov/condition/mannose-binding-lectin-deficiency |
Mannose-binding lectin deficiency is thought to affect approximately 5 to |
html:p |
Mannose-binding lectin deficiency is a condition that affects the immune system. |
u |
pattern unknown |
MBL2 |
https://ghr.nlm.nih.gov/gene/MBL2 |
mannose-binding lectin protein deficiency |
db |
key |
2012-03 |
2017-12-29 |
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(Immune) |
10 percent of people worldwide; however, many affected individuals have no signs |
People with this condition have low levels of an immune system protein called |
mannose-binding protein deficiency |
GTR |
C1835140 |
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or symptoms related to low mannose-binding lectin levels. The condition is more |
mannose-binding lectin in their blood. These individuals are prone to recurrent |
MBL deficiency |
db |
key |
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common in certain populations, such as sub-Saharan Africans. |
infections, including infections of the upper respiratory tract and other body |
MBL2 deficiency |
MeSH |
D007153 |
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systems. People with this condition may also contract more serious infections |
MBP deficiency |
db |
key |
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such as pneumonia and meningitis. Depending on the type of infection, the |
OMIM |
614372 |
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symptoms caused by the infections vary in frequency and severity. |
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html:p |
Infants and young children with mannose-binding lectin deficiency seem to be |
SNOMED CT |
703538003 |
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more susceptible to infections, but adults can also develop recurrent |
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infections. In addition, affected individuals undergoing chemotherapy or taking |
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drugs that suppress the immune system are especially prone to infections. |
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related-gene-list |
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Maple syrup urine disease |
https://ghr.nlm.nih.gov/condition/maple-syrup-urine-disease |
Maple syrup urine disease affects an estimated 1 in 185,000 infants |
html:p |
Maple syrup urine disease is an inherited disorder in which the body is unable |
ar |
autosomal recessive |
BCKDHA |
https://ghr.nlm.nih.gov/gene/BCKDHA |
BCKD deficiency |
db |
key |
2017-07 |
2017-12-29 |
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楓糖漿尿症 |
worldwide. The disorder occurs much more frequently in the Old Order Mennonite |
to process certain protein building blocks (amino acids) properly. The condition |
related-gene |
gene-symbol |
ghr-page |
branched-chain alpha-keto acid dehydrogenase deficiency |
GTR |
C0024776 |
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population, with an estimated incidence of about 1 in 380 newborns. |
gets its name from the distinctive sweet odor of affected infants' urine. It is |
BCKDHB |
https://ghr.nlm.nih.gov/gene/BCKDHB |
branched-chain ketoaciduria |
db |
key |
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also characterized by poor feeding, vomiting, lack of energy (lethargy), |
related-gene |
gene-symbol |
ghr-page |
ketoacidemia |
GTR |
C0268568 |
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abnormal movements, and delayed development. If untreated, maple syrup urine |
DBT |
https://ghr.nlm.nih.gov/gene/DBT |
MSUD |
db |
key |
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disease can lead to seizures, coma, and death. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1621920 |
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html:p |
Maple syrup urine disease is often classified by its pattern of signs and |
PPM1K |
https://ghr.nlm.nih.gov/gene/PPM1K |
db |
key |
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symptoms. The most common and severe form of the disease is the classic type, |
GeneReviews |
msud |
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which becomes apparent soon after birth. Variant forms of the disorder become |
db |
key |
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apparent later in infancy or childhood and are typically milder, but they still |
ICD-10-CM |
E71.0 |
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lead to delayed development and other health problems if not treated. |
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key |
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MeSH |
D008375 |
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db |
key |
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OMIM |
248600 |
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db |
key |
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OMIM |
615135 |
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db |
key |
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Orphanet |
511 |
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db |
key |
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Orphanet |
268145 |
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db |
key |
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Orphanet |
268162 |
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db |
key |
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SNOMED CT |
27718001 |
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db |
key |
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SNOMED CT |
31368008 |
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db |
key |
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SNOMED CT |
405287008 |
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db |
key |
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SNOMED CT |
405288003 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
54064006 |
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|
Marfan syndrome |
https://ghr.nlm.nih.gov/condition/marfan-syndrome |
The incidence of Marfan syndrome is approximately 1 in 5,000 worldwide. |
html:p |
Marfan syndrome is a disorder that affects the connective tissue in many parts |
ad |
autosomal dominant |
FBN1 |
https://ghr.nlm.nih.gov/gene/FBN1 |
Marfan's syndrome |
db |
key |
2012-03 |
2017-12-29 |
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|
馬凡氏症候群 |
|
|
of the body. Connective tissue provides strength and flexibility to structures |
MFS |
GTR |
C0024796 |
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such as bones, ligaments, muscles, blood vessels, and heart valves. The signs |
db |
key |
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and symptoms of Marfan syndrome vary widely in severity, timing of onset, and |
GeneReviews |
marfan |
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rate of progression. |
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db |
key |
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html:p |
The two primary features of Marfan syndrome are vision problems caused by a |
ICD-10-CM |
Q87.4 |
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dislocated lens (ectopia lentis) in one or both eyes and defects in the large |
db |
key |
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blood vessel that distributes blood from the heart to the rest of the body (the |
ICD-10-CM |
Q87.40 |
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aorta). The aorta can weaken and stretch, which may lead to a bulge in the blood |
db |
key |
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vessel wall (an aneurysm). Stretching of the aorta may cause the aortic valve |
ICD-10-CM |
Q87.41 |
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to leak, which can lead to a sudden tearing of the layers in the aorta wall |
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db |
key |
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(aortic dissection). Aortic aneurysm and dissection can be life threatening. |
ICD-10-CM |
Q87.42 |
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html:p |
Many people with Marfan syndrome have additional heart problems including a leak |
db |
key |
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in the valve that connects two of the four chambers of the heart (mitral valve |
ICD-10-CM |
Q87.43 |
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prolapse) or the valve that regulates blood flow from the heart into the aorta |
db |
key |
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(aortic valve regurgitation). Leaks in these valves can cause shortness of |
ICD-10-CM |
Q87.410 |
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breath, fatigue, and an irregular heartbeat felt as skipped or extra beats |
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db |
key |
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(palpitations). |
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ICD-10-CM |
Q87.418 |
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html:p |
Individuals with Marfan syndrome are usually tall and slender, have elongated |
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fingers and toes (arachnodactyly), and have an arm span that exceeds their body |
MeSH |
D008382 |
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height. Other common features include a long and narrow face, crowded teeth, an |
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abnormal curvature of the spine (scoliosis or kyphosis), and either a sunken |
OMIM |
154700 |
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chest (pectus excavatum) or a protruding chest (pectus carinatum). Some |
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individuals develop an abnormal accumulation of air in the chest cavity that can |
Orphanet |
558 |
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result in the collapse of a lung (spontaneous pneumothorax). A membrane called |
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the dura, which surrounds the brain and spinal cord, can be abnormally enlarged |
SNOMED CT |
19346006 |
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(dural ectasia) in people with Marfan syndrome. Dural ectasia can cause pain in |
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the back, abdomen, legs, or head. Most individuals with Marfan syndrome have |
SNOMED CT |
234035006 |
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some degree of nearsightedness (myopia). Clouding of the lens (cataract) may |
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occur in mid-adulthood, and increased pressure within the eye (glaucoma) occurs |
SNOMED CT |
57201002 |
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more frequently in people with Marfan syndrome than in those without the |
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condition. |
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html:p |
The features of Marfan syndrome can become apparent anytime between infancy and |
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adulthood. Depending on the onset and severity of signs and symptoms, Marfan can |
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be fatal early in life; however, the majority of affected individuals survive |
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into mid- to late adulthood. |
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related-gene-list |
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Marinesco-Sjögren syndrome |
https://ghr.nlm.nih.gov/condition/marinesco-sjogren-syndrome |
Marinesco-Sjögren syndrome appears to be a rare condition. More than 100 |
html:p |
Marinesco-Sjögren syndrome is a condition that has a variety of signs and |
ar |
autosomal recessive |
SIL1 |
https://ghr.nlm.nih.gov/gene/SIL1 |
Garland-Moorhouse syndrome |
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key |
2015-02 |
2017-12-29 |
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cases have been reported worldwide. |
symptoms affecting many tissues. People with Marinesco-Sjögren syndrome have |
hereditary oligophrenic cerebello-lental degeneration |
GTR |
C0024814 |
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clouding of the lens of the eyes (cataracts) that usually develops soon after |
Marinesco-Garland syndrome |
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birth or in early childhood. Affected individuals also have muscle weakness |
MSS |
GeneReviews |
mss |
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(myopathy) and difficulty coordinating movements (ataxia), which may impair |
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their ability to walk. People with Marinesco-Sjögren syndrome may experience |
MeSH |
D013132 |
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further decline in muscle function later in life. |
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html:p |
Most people with Marinesco-Sjögren syndrome have mild to moderate intellectual |
OMIM |
248800 |
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disability. They also have skeletal abnormalities including short stature and a |
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spine that curves to the side (scoliosis). Other features of Marinesco-Sjögren |
Orphanet |
559 |
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syndrome include eyes that do not look in the same direction (strabismus), |
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involuntary eye movements (nystagmus), and impaired speech (dysarthria). |
SNOMED CT |
80734006 |
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html:p |
Affected individuals may have hypergonadotropic hypogonadism, which affects the |
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production of hormones that direct sexual development. As a result, puberty is |
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either delayed or absent. |
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related-gene-list |
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Maternally inherited diabetes and deafness |
https://ghr.nlm.nih.gov/condition/maternally-inherited-diabetes-and-deafness |
About 1 percent of people with diabetes have MIDD. The condition is most |
html:p |
Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is |
m |
mitochondrial |
MT-TE |
https://ghr.nlm.nih.gov/gene/MT-TE |
Ballinger-Wallace syndrome |
db |
key |
2012-10 |
2017-12-29 |
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母系遗传的糖尿病和耳聋 |
common in the Japanese population and has been found in populations worldwide. |
often accompanied by hearing loss, especially of high tones. The diabetes in |
related-gene |
gene-symbol |
ghr-page |
diabetes mellitus, type II, with deafness |
GTR |
C0342289 |
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MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from |
MT-TK |
https://ghr.nlm.nih.gov/gene/MT-TK |
maternally transmitted diabetes-deafness syndrome |
db |
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a shortage of the hormone insulin, which regulates the amount of sugar in the |
related-gene |
gene-symbol |
ghr-page |
MIDD |
ICD-10-CM |
E13.69 |
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blood. In MIDD, the diabetes and hearing loss usually develop in mid-adulthood, |
MT-TL1 |
https://ghr.nlm.nih.gov/gene/MT-TL1 |
mitochondrial inherited diabetes and deafness |
db |
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although the age that they occur varies from childhood to late adulthood. |
related-mitochondrial-dna |
name |
ghr-page |
NIDDM with deafness |
MeSH |
D003920 |
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Typically, hearing loss occurs before diabetes. |
mitochondrial DNA |
https://ghr.nlm.nih.gov/mitochondrial-dna |
noninsulin-dependent diabetes mellitus with deafness |
db |
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html:p |
Some people with MIDD develop an eye disorder called macular retinal dystrophy, |
OMIM |
520000 |
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which is characterized by colored patches in the light-sensitive tissue that |
db |
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lines the back of the eye (the retina). This disorder does not usually cause |
Orphanet |
225 |
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vision problems in people with MIDD. Individuals with MIDD also may experience |
db |
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muscle cramps or weakness, particularly during exercise; heart problems; kidney |
SNOMED CT |
237619009 |
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disease; and constipation. Individuals with MIDD are often shorter than their |
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peers. |
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related-gene-list |
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Mayer-Rokitansky-Küster-Hauser syndrome |
https://ghr.nlm.nih.gov/condition/mayer-rokitansky-kuster-hauser-syndrome |
MRKH syndrome affects approximately 1 in 4,500 newborn girls. |
html:p |
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a disorder that occurs in |
ad |
autosomal dominant |
LHX1 |
https://ghr.nlm.nih.gov/gene/LHX1 |
congenital absence of the uterus and vagina (CAUV) |
db |
key |
2017-05 |
2017-12-29 |
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苗勒管發育不全 |
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females and mainly affects the reproductive system. This condition causes the |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
genital renal ear syndrome (GRES) |
GTR |
C1698581 |
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苗勒管發育不全 |
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vagina and uterus to be underdeveloped or absent, although external genitalia |
u |
pattern unknown |
SHOX |
https://ghr.nlm.nih.gov/gene/SHOX |
MRKH syndrome |
db |
key |
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are normal. Affected women usually do not have menstrual periods due to the |
related-gene |
gene-symbol |
ghr-page |
Mullerian agenesis |
MeSH |
D058489 |
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absent uterus. Often, the first noticeable sign of MRKH syndrome is that |
TBX6 |
https://ghr.nlm.nih.gov/gene/TBX6 |
Mullerian aplasia |
db |
key |
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menstruation does not begin by age 16 (primary amenorrhea). Women with MRKH |
Mullerian dysgenesis |
OMIM |
277000 |
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syndrome have a female chromosome pattern (46,XX) and normally functioning |
Rokitansky Kuster Hauser syndrome |
db |
key |
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ovaries. They also have normal breast and pubic hair development. Although women |
Rokitansky syndrome |
OMIM |
601076 |
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with this condition are usually unable to carry a pregnancy, they may be able |
db |
key |
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to have children through assisted reproduction. |
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Orphanet |
2578 |
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html:p |
When only reproductive organs are affected, the condition is classified as MRKH |
db |
key |
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syndrome type 1. Some women with MRKH syndrome also have abnormalities in other |
Orphanet |
3109 |
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parts of the body; in these cases, the condition is classified as MRKH syndrome |
db |
key |
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type 2. In this form of the condition, the kidneys may be abnormally formed or |
Orphanet |
247775 |
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positioned, or one kidney may fail to develop (unilateral renal agenesis). |
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Affected individuals commonly develop skeletal abnormalities, particularly of |
SNOMED CT |
253828000 |
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the spinal bones (vertebrae). Females with MRKH syndrome type 2 may also have |
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hearing loss or heart defects. |
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related-gene-list |
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McCune-Albright syndrome |
https://ghr.nlm.nih.gov/condition/mccune-albright-syndrome |
McCune-Albright syndrome occurs in between 1 in 100,000 and 1 in 1,000,000 |
html:p |
McCune-Albright syndrome is a disorder that affects the bones, skin, and several |
n |
not inherited |
GNAS |
https://ghr.nlm.nih.gov/gene/GNAS |
Albright-McCune-Sternberg syndrome |
db |
key |
2009-01 |
2017-12-29 |
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McCune Albright氏症候群 (纖維性骨失養症) |
people worldwide. |
hormone-producing (endocrine) tissues. |
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Albright-Sternberg syndrome |
GTR |
C0242292 |
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McCune Albright氏症候群 |
html:p |
People with McCune-Albright syndrome develop areas of abnormal scar-like |
Albright syndrome |
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纖維性骨失養症 |
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(fibrous) tissue in their bones, a condition called polyostotic fibrous |
Albright's disease |
GeneReviews |
mccune-albright |
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dysplasia. Polyostotic means the abnormal areas (lesions) may occur in many |
Albright's disease of bone |
db |
key |
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bones; often they are confined to one side of the body. Replacement of bone with |
Albright's syndrome |
ICD-10-CM |
Q78.1 |
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fibrous tissue may lead to fractures, uneven growth, and deformity. When |
Albright's syndrome with precocious puberty |
db |
key |
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lesions occur in the bones of the skull and jaw it can result in uneven |
fibrous dysplasia with pigmentary skin changes and precocious puberty |
MeSH |
D005359 |
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(asymmetric) growth of the face. Asymmetry may also occur in the long bones; |
MAS |
db |
key |
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uneven growth of leg bones may cause limping. Abnormal curvature of the spine |
osteitis fibrosa disseminata |
OMIM |
174800 |
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(scoliosis) may also occur. Bone lesions may become cancerous, but this happens |
PFD |
db |
key |
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in fewer than 1 percent of people with McCune-Albright syndrome. |
POFD |
Orphanet |
562 |
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html:p |
In addition to bone abnormalities, affected individuals usually have light brown |
polyostotic fibrous dysplasia |
db |
key |
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patches of skin called café-au-lait spots, which may be present from birth. The |
SNOMED CT |
36517007 |
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irregular borders of the café-au-lait spots in McCune-Albright syndrome are |
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often compared to a map of the coast of Maine. By contrast, café-au-lait spots |
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in other disorders have smooth borders, which are compared to the coast of |
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California. Like the bone lesions, the café-au-lait spots in McCune-Albright |
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syndrome often appear on only one side of the body. |
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html:p |
Girls with McCune-Albright syndrome usually reach puberty early. These girls |
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usually have menstrual bleeding by age two, many years before secondary sex |
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characteristics such as breast enlargement and pubic hair are evident. This |
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early onset of menstruation is believed to be caused by excess estrogen, a |
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female sex hormone, produced by cysts that develop in one of the ovaries. Less |
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commonly, boys with McCune-Albright syndrome may also experience early puberty. |
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html:p |
Other endocrine problems may also occur in people with McCune-Albright syndrome. |
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The thyroid gland, a butterfly-shaped organ at the base of the neck, may become |
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enlarged (a condition called a goiter) or develop masses called nodules. About |
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50 percent of affected individuals produce excessive amounts of thyroid hormone |
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(hyperthyroidism), resulting in a fast heart rate, high blood pressure, weight |
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loss, tremors, sweating, and other symptoms. The pituitary gland (a structure at |
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the base of the brain that makes several hormones) may produce too much growth |
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hormone. Excess growth hormone can result in acromegaly, a condition |
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characterized by large hands and feet, arthritis, and distinctive facial |
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features that are often described as "coarse." Rarely, affected individuals |
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develop Cushing's syndrome, an excess of the hormone cortisol produced by the |
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adrenal glands, which are small glands located on top of each kidney. Cushing's |
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syndrome causes weight gain in the face and upper body, slowed growth in |
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children, fragile skin, fatigue, and other health problems. |
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related-gene-list |
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McKusick-Kaufman syndrome |
https://ghr.nlm.nih.gov/condition/mckusick-kaufman-syndrome |
This condition was first described in the Old Order Amish population, where |
html:p |
McKusick-Kaufman syndrome is a condition that affects the development of the |
ar |
autosomal recessive |
MKKS |
https://ghr.nlm.nih.gov/gene/MKKS |
HMCS |
db |
key |
2008-05 |
2017-12-29 |
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it affects an estimated 1 in 10,000 people. The incidence of McKusick-Kaufman |
hands and feet, heart, and reproductive system. It is characterized by a |
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation |
GTR |
C0948368 |
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syndrome in non-Amish populations is unknown. |
combination of three features: extra fingers and/or toes (polydactyly), heart |
Kaufman-McKusick syndrome |
db |
key |
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defects, and genital abnormalities. |
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MKS |
GeneReviews |
mkks |
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Most females with McKusick-Kaufman syndrome are born with a genital abnormality |
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called hydrometrocolpos, which is a large accumulation of fluid in the pelvis. |
MeSH |
D006330 |
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Hydrometrocolpos results from a blockage of the vagina before birth, which can |
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occur if part of the vagina fails to develop (vaginal agenesis) or if a membrane |
MeSH |
D017689 |
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blocks the opening of the vagina. This blockage allows fluid to build up in |
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the vagina and uterus, stretching these organs and leading to a fluid-filled |
MeSH |
D052202 |
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mass. Genital abnormalities in males with McKusick-Kaufman syndrome can include |
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placement of the urethral opening on the underside of the penis (hypospadias), |
OMIM |
236700 |
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a downward-curving penis (chordee), and undescended testes (cryptorchidism). |
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html:p |
The signs and symptoms of McKusick-Kaufman syndrome overlap significantly with |
Orphanet |
2473 |
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those of another genetic disorder, Bardet-Biedl syndrome. Bardet-Biedl syndrome |
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has several features that are not seen in McKusick-Kaufman syndrome, however. |
SNOMED CT |
702407009 |
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These include vision loss, delayed development, obesity, and kidney (renal) |
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failure. Because some of these features are not apparent at birth, the two |
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conditions can be difficult to tell apart in infancy and early childhood. |
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related-gene-list |
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McLeod neuroacanthocytosis syndrome |
https://ghr.nlm.nih.gov/condition/mcleod-neuroacanthocytosis-syndrome |
McLeod neuroacanthocytosis syndrome is rare; approximately 150 cases have |
html:p |
McLeod neuroacanthocytosis syndrome is primarily a neurological disorder that |
xr |
X-linked recessive |
XK |
https://ghr.nlm.nih.gov/gene/XK |
McLeod syndrome |
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2015-04 |
2017-12-29 |
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McLeod症候群 |
been reported worldwide. |
occurs almost exclusively in boys and men. This disorder affects movement in |
GTR |
C0398568 |
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McLeod神經棘細胞增多症 |
many parts of the body. People with McLeod neuroacanthocytosis syndrome also |
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have abnormal star-shaped red blood cells (acanthocytosis). This condition is |
GeneReviews |
mcleod |
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one of a group of disorders called neuroacanthocytoses that involve neurological |
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problems and abnormal red blood cells. |
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MeSH |
D054546 |
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html:p |
McLeod neuroacanthocytosis syndrome affects the brain and spinal cord (central |
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nervous system). Affected individuals have involuntary movements, including |
OMIM |
314850 |
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jerking motions (chorea), particularly of the arms and legs, and muscle tensing |
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(dystonia) in the face and throat, which can cause grimacing and vocal tics |
Orphanet |
59306 |
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(such as grunting and clicking noises). Dystonia of the tongue can lead to |
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swallowing difficulties. Seizures occur in approximately half of all people with |
SNOMED CT |
234411007 |
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McLeod neuroacanthocytosis syndrome. Individuals with this condition may |
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develop difficulty processing, learning, and remembering information (cognitive |
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impairment). They may also develop psychiatric disorders, such as depression, |
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bipolar disorder, psychosis, or obsessive-compulsive disorder. |
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html:p |
People with McLeod neuroacanthocytosis syndrome also have problems with their |
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muscles, including muscle weakness (myopathy) and muscle degeneration (atrophy). |
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Sometimes, nerves that connect to muscles atrophy (neurogenic atrophy), leading |
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to loss of muscle mass and impaired movement. Individuals with McLeod |
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neuroacanthocytosis syndrome may also have reduced sensation and weakness in |
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their arms and legs (peripheral neuropathy). Life-threatening heart problems |
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such as irregular heartbeats (arrhythmia) and a weakened and enlarged heart |
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(dilated cardiomyopathy) are common in individuals with this disorder. |
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html:p |
The signs and symptoms of McLeod neuroacanthocytosis syndrome usually begin in |
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mid-adulthood. Behavioral changes, such as lack of self-restraint, the inability |
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to take care of oneself, anxiety, depression, and changes in personality may be |
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the first signs of this condition. While these behavioral changes are |
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typically not progressive, the movement and muscle problems and intellectual |
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impairments tend to worsen with age. |
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related-gene-list |
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MDA5 deficiency |
https://ghr.nlm.nih.gov/condition/mda5-deficiency |
MDA5 deficiency is likely a rare disorder. Its prevalence is unknown. |
html:p |
MDA5 deficiency is a disorder of the immune system (immunodeficiency) that leads |
ad |
autosomal dominant |
IFIH1 |
https://ghr.nlm.nih.gov/gene/IFIH1 |
IFIH1 deficiency |
db |
key |
2017-11 |
2017-12-29 |
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to recurrent, severe infections of the lungs and airways (respiratory tract) |
code |
memo |
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MeSH |
D007153 |
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beginning in infancy. These infections are most frequently caused by rhinovirus |
ar |
autosomal recessive |
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(the virus that causes the common cold). Respiratory syncytial virus (RSV) and |
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the influenza (flu) virus may also cause recurrent infections in affected |
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individuals. While infection by these viruses is common in all children, it |
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usually causes mild symptoms and lasts only a short time before being cleared by |
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a healthy immune system. In contrast, individuals with MDA5 deficiency |
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frequently require hospitalization due to the severity of the symptoms caused by |
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the infection. Repeated infections can contribute to chronic lung disease. |
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html:p |
Infections usually become less frequent with age in people with MDA5 deficiency, |
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as the body's immune system matures and develops other mechanisms for fighting |
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viruses. |
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related-gene-list |
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Meckel syndrome |
https://ghr.nlm.nih.gov/condition/meckel-syndrome |
Meckel syndrome affects 1 in 13,250 to 1 in 140,000 people worldwide. It is |
html:p |
Meckel syndrome is a disorder with severe signs and symptoms that affect many |
ar |
autosomal recessive |
B9D1 |
https://ghr.nlm.nih.gov/gene/B9D1 |
dysencephalia splanchnocystica |
db |
key |
2012-05 |
2017-12-29 |
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Meckel-Gruber syndrome |
more common in certain populations; for example, the condition affects about 1 |
parts of the body. The most common features are enlarged kidneys with numerous |
related-gene |
gene-symbol |
ghr-page |
Meckel-Gruber syndrome |
GTR |
C1846357 |
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Meckel-Gruber綜合症狀 |
in 9,000 people of Finnish ancestry and about 1 in 3,000 people of Belgian |
fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion |
B9D2 |
https://ghr.nlm.nih.gov/gene/B9D2 |
MKS |
db |
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ancestry. |
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of the brain through an opening at the back of the skull; and the presence of |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1864148 |
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extra fingers and toes (polydactyly). Most affected individuals also have a |
CC2D2A |
https://ghr.nlm.nih.gov/gene/CC2D2A |
db |
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buildup of scar tissue (fibrosis) in the liver. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1969052 |
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html:p |
Other signs and symptoms of Meckel syndrome vary widely among affected |
CEP290 |
https://ghr.nlm.nih.gov/gene/CEP290 |
db |
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individuals. Numerous abnormalities of the brain and spinal cord (central |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1970161 |
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nervous system) have been reported in people with Meckel syndrome, including a |
MKS1 |
https://ghr.nlm.nih.gov/gene/MKS1 |
db |
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group of birth defects known as neural tube defects. These defects occur when a |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2673885 |
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structure called the neural tube, a layer of cells that ultimately develops into |
RPGRIP1L |
https://ghr.nlm.nih.gov/gene/RPGRIP1L |
db |
key |
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the brain and spinal cord, fails to close completely during the first few weeks |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2676790 |
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of embryonic development. Meckel syndrome can also cause problems with |
TMEM67 |
https://ghr.nlm.nih.gov/gene/TMEM67 |
db |
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development of the eyes and other facial features, heart, bones, urinary system, |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3280036 |
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and genitalia. |
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TMEM216 |
https://ghr.nlm.nih.gov/gene/TMEM216 |
db |
key |
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html:p |
Because of their serious health problems, most individuals with Meckel syndrome |
GTR |
C3280155 |
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die before or shortly after birth. Most often, affected infants die of |
db |
key |
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respiratory problems or kidney failure. |
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GTR |
C3714506 |
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db |
key |
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GTR |
C3836857 |
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db |
key |
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MeSH |
D000015 |
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db |
key |
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OMIM |
249000 |
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db |
key |
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OMIM |
267010 |
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db |
key |
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OMIM |
603194 |
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db |
key |
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OMIM |
607361 |
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db |
key |
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OMIM |
611134 |
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db |
key |
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OMIM |
611561 |
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db |
key |
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OMIM |
612284 |
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db |
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OMIM |
613885 |
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db |
key |
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OMIM |
614175 |
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db |
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OMIM |
614209 |
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db |
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Orphanet |
564 |
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db |
key |
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inheritance-pattern-list |
|
SNOMED CT |
29076005 |
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MECP2 duplication syndrome |
https://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome |
The prevalence of MECP2 duplication syndrome is unknown; more than 200 |
html:p |
MECP2 duplication syndrome is a condition that occurs almost exclusively in males |
x |
X-linked |
gene-symbol |
synonym |
Lubs X-linked mental retardation syndrome |
db-key |
db |
key |
2017-03 |
2017-12-29 |
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MECP2綜合症候群 |
affected individuals have been described in the scientific literature. It is |
MECP2 |
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MECP2 |
synonym |
trisomy Xq28 |
GTR |
C1846058 |
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Methyl-CpG-binding Protein 2 Duplication Syndrome |
estimated that this condition is responsible for 1 to 2 percent of all cases of |
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db-key |
db |
key |
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intellectual disability caused by changes in the X chromosome. |
duplication syndrome have delayed development of motor skills such as sitting |
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GeneReviews |
mecp2-dup |
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and walking. About half of individuals have seizures, often of the tonic-clonic |
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db-key |
db |
key |
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type. This type of seizure involves a loss of consciousness, muscle rigidity, |
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MeSH |
D038901 |
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and convulsions and may not respond to medication. Some affected individuals |
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db-key |
db |
key |
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experience the loss of previously acquired skills (developmental regression). |
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OMIM |
300260 |
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Approximately half of individuals learn to walk, and about one-third of people |
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db-key |
db |
key |
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duplication syndrome have recurrent respiratory tract infections. These |
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MECP2 |
respiratory infections are a major cause of death in affected individuals, with |
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only half surviving past age 25. |
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SNOMED CT |
702816000 |
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inheritance-pattern-list |
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MECP2-related severe neonatal encephalopathy |
https://ghr.nlm.nih.gov/condition/mecp2-related-severe-neonatal-encephalopathy |
MECP2-related severe neonatal encephalopathy is likely a rare condition. |
html:p |
MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males |
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X-linked |
gene-symbol |
synonym |
methyl-cytosine phosphate guanine binding protein 2 related severe neonatal |
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2016-02 |
2017-12-29 |
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Twenty to 30 affected males have been reported in the scientific literature. |
and causes brain dysfunction (encephalopathy). Affected males have a small head size (microcephaly), poor muscle |
MECP2 |
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encephalopathy |
GTR |
C1968556 |
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tone (hypotonia) in infancy, movement disorders, rigidity, and seizures. |
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synonym |
severe congenital encephalopathy due to MECP2 mutation |
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Infants with this condition appear normal at birth but then develop severe |
synonym |
severe neonatal encephalopathy due to MECP2 mutations |
GeneReviews |
rett |
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encephalopathy within the first week of life. These babies experience poor feeding, leading to a failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MECP2-related severe neonatal encephalopathy have severe to profound intellectual disability. Affected males have breathing problems, with some having episodes in which breathing slows or stops for short periods (apnea). As the child ages, the apnea episodes tend to last longer, especially during sleep, and affected babies often require use of a machine to help regulate their breathing (mechanical ventilation). Most males with MECP2-related severe neonatal encephalopathy do not live past the age of 2 because of respiratory failure. |
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MeSH |
D001925 |
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-related severe neonatal encephalopathy have severe to profound intellectual |
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disability. Affected males have breathing problems, with some having episodes in |
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Orphanet |
209370 |
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which breathing slows or stops for short periods (apnea). As the child ages, |
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the apnea episodes tend to last longer, especially during sleep, and affected |
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SNOMED CT |
711487002 |
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babies often require use of a machine to help regulate their breathing |
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html:i |
-related severe neonatal encephalopathy do not live past the age of 2 because of |
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MECP2 |
respiratory failure. |
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MECP2 |
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duplication syndrome, then Rett syndrome (which exclusively affects females), |
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html:i |
-related severe neonatal encephalopathy. |
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MECP2 |
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related-gene-list |
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Medium-chain acyl-CoA dehydrogenase deficiency, MCAD |
https://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency |
In the United States, the estimated incidence of MCAD deficiency is 1 in |
html:p |
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that |
ar |
autosomal recessive |
ACADM |
https://ghr.nlm.nih.gov/gene/ACADM |
ACADM deficiency |
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2015-02 |
2017-12-29 |
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中鏈脂肪酸去氫酵素缺乏症 |
17,000 people. The condition is more common in people of northern European |
prevents the body from converting certain fats to energy, particularly during |
MCAD deficiency |
GTR |
C0220710 |
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(Metabolic) |
ancestry than in other ethnic groups. |
periods without food (fasting). |
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MCADD |
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html:p |
Signs and symptoms of MCAD deficiency typically appear during infancy or early |
MCADH deficiency |
GeneReviews |
mcad |
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childhood and can include vomiting, lack of energy (lethargy), and low blood |
medium chain acyl-CoA dehydrogenase deficiency |
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sugar (hypoglycemia). In rare cases, symptoms of this disorder are not |
medium-chain acyl-coenzyme A dehydrogenase deficiency |
ICD-10-CM |
E71.311 |
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recognized early in life, and the condition is not diagnosed until adulthood. |
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People with MCAD deficiency are at risk of serious complications such as |
MeSH |
D008052 |
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seizures, breathing difficulties, liver problems, brain damage, coma, and sudden |
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death. |
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OMIM |
201450 |
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html:p |
Problems related to MCAD deficiency can be triggered by periods of fasting or by |
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illnesses such as viral infections. This disorder is sometimes mistaken for |
Orphanet |
42 |
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Reye syndrome, a severe disorder that may develop in children while they appear |
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to be recovering from viral infections such as chicken pox or flu. Most cases of |
SNOMED CT |
128596003 |
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Reye syndrome are associated with the use of aspirin during these viral |
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infections. |
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related-gene-list |
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Medullary cystic kidney disease type 1 |
https://ghr.nlm.nih.gov/condition/medullary-cystic-kidney-disease-type-1 |
MCKD1 is a rare disorder, although its prevalence is unknown. |
html:p |
Medullary cystic kidney disease type 1 (MCKD1) is an inherited condition that |
ad |
autosomal dominant |
MUC1 |
https://ghr.nlm.nih.gov/gene/MUC1 |
autosomal dominant interstitial kidney disease |
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2013-06 |
2017-12-29 |
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affects the kidneys. It leads to scarring (fibrosis) and impaired function of |
autosomal dominant medullary cystic kidney disease |
GTR |
C1868139 |
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the kidneys, usually beginning in adulthood. The kidneys filter fluid and waste |
polycystic kidneys, medullary type |
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products from the body. They also reabsorb needed nutrients and release them |
ICD-10-CM |
Q61.5 |
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back into the blood. As MCKD1 progresses, the kidneys are less able to function, |
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resulting in kidney failure. |
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MeSH |
D007674 |
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html:p |
Declining kidney function in people with MCKD1 leads to the signs and symptoms |
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of the condition. The features are variable, even among members of the same |
OMIM |
174000 |
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family. Many individuals with MCKD1 develop high blood pressure (hypertension), |
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especially as kidney function worsens. Some develop high levels of a waste |
Orphanet |
34149 |
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product called uric acid in the blood (hyperuricemia) because the damaged |
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kidneys are unable to remove uric acid effectively. In a small number of |
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SNOMED CT |
444699000 |
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affected individuals, the buildup of this waste product can cause gout, which is |
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a form of arthritis resulting from uric acid crystals in the joints. |
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html:p |
Although the condition is named medullary cystic kidney disease, only about 40 |
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percent of affected individuals have medullary cysts, which are fluid filled |
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pockets found in a particular region of the kidney. When present, the cysts are |
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usually found in the inner part of the kidney (the medullary region) or the |
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border between the inner and outer parts (corticomedullary region). These cysts |
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are visible by tests such as ultrasound or CT scan. |
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related-gene-list |
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Meesmann corneal dystrophy |
https://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy |
Meesmann corneal dystrophy is a rare disorder whose prevalence is unknown. |
html:p |
Meesmann corneal dystrophy is an eye disease that affects the cornea, which is |
ad |
autosomal dominant |
KRT3 |
https://ghr.nlm.nih.gov/gene/KRT3 |
corneal dystrophy, juvenile epithelial of Meesmann |
db |
key |
2012-08 |
2017-12-29 |
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(Eyes) |
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It was first described in a large, multi-generational German family with more |
the clear front covering of the eye. This condition is characterized by the |
related-gene |
gene-symbol |
ghr-page |
corneal dystrophy, Meesmann epithelial |
GTR |
C0339277 |
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than 100 affected members. Since then, the condition has been reported in |
formation of tiny round cysts in the outermost layer of the cornea, called the |
KRT12 |
https://ghr.nlm.nih.gov/gene/KRT12 |
juvenile hereditary epithelial dystrophy |
db |
key |
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individuals and families worldwide. |
corneal epithelium. This part of the cornea acts as a barrier to help prevent |
MECD |
ICD-10-CM |
H18.52 |
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foreign materials, such as dust and bacteria, from entering the eye. |
Meesman's corneal dystrophy |
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html:p |
In people with Meesmann corneal dystrophy, cysts can appear as early as the |
Meesmann corneal epithelial dystrophy |
MeSH |
D053559 |
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first year of life. They usually affect both eyes and increase in number over |
Meesmann epithelial corneal dystrophy |
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time. The cysts usually do not cause any symptoms until late adolescence or |
OMIM |
122100 |
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adulthood, when they start to break open (rupture) on the surface of the cornea |
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and cause irritation. The resulting symptoms typically include increased |
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Orphanet |
98954 |
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sensitivity to light (photophobia), twitching of the eyelids (blepharospasm), |
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key |
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increased tear production, the sensation of having a foreign object in the eye, |
SNOMED CT |
1674008 |
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and an inability to tolerate wearing contact lenses. Some affected individuals |
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also have temporary episodes of blurred vision. |
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related-gene-list |
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Megacystis-microcolon-intestinal hypoperistalsis syndrome |
https://ghr.nlm.nih.gov/condition/megacystis-microcolon-intestinal-hypoperistals |
MMIHS is a rare disorder. More than 200 cases have been reported in the |
html:p |
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a severe |
ad |
autosomal dominant |
ACTG2 |
https://ghr.nlm.nih.gov/gene/ACTG2 |
Berdon syndrome |
db |
key |
2017-10 |
2017-12-29 |
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is-syndrome |
medical literature. |
disorder affecting the muscles that line the bladder and intestines. It is |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
megacystis, microcolon, hypoperistalsis syndrome |
GTR |
C1835084 |
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characterized by impairment of the muscle contractions that move food through |
ar |
autosomal recessive |
LMOD1 |
https://ghr.nlm.nih.gov/gene/LMOD1 |
MMIH syndrome |
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the digestive tract (peristalsis) and empty the bladder. |
related-gene |
gene-symbol |
ghr-page |
MMIHS |
GeneReviews |
actg2-dis |
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html:p |
Some of the major features of MMIHS can be recognized before birth using |
MYH11 |
https://ghr.nlm.nih.gov/gene/MYH11 |
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ultrasound imaging. Affected fetuses have an enlarged bladder (megacystis) |
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D005767 |
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because it does not empty. In addition, the large intestine (colon) is |
MYLK |
https://ghr.nlm.nih.gov/gene/MYLK |
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abnormally narrow (microcolon) because of a shortage of functional muscle lining |
OMIM |
155310 |
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it. Intestinal and bladder problems persist throughout life. |
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html:p |
After birth, the continued impairment of peristalsis (hypoperistalsis) often |
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Orphanet |
2241 |
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causes a digestive condition called intestinal pseudo-obstruction. This |
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condition, which mimics a physical blockage (obstruction) of the intestines but |
SNOMED CT |
253781004 |
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without an actual blockage, leads to a buildup of partially digested food in the |
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intestines. This buildup can cause abdominal swelling (distention) and pain, |
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nausea, and vomiting. The vomit usually contains a green or yellow digestive |
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fluid called bile. Because digestion is impeded and the body does not get the |
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nutrients from food, nutritional support is usually needed, which is given |
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through intravenous feedings (parenteral nutrition). While some affected |
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individuals rely solely on intravenous feedings, others require it only on |
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occasion. Long-term use of parenteral nutrition can lead to liver problems. |
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html:p |
The reduced ability to pass urine also contributes to painful distention of the |
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abdomen. Many people with MMIHS require placement of a tube (urinary catheter) |
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to remove urine from the bladder. |
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html:p |
Another abnormality in some people with MMIHS is intestinal malrotation, in |
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which the intestines do not fold properly. Instead, they twist abnormally, often |
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causing a blockage. Individuals with MMIHS can also develop problems with the |
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kidneys or the ureters, which are the ducts that carry urine from the kidneys to |
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the bladder. |
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html:p |
The life expectancy of people with MMIHS is shorter than normal, often due to |
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malnutrition, overwhelming infection (sepsis), or the failure of multiple |
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organs. |
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related-gene-list |
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Megalencephalic leukoencephalopathy with subcortical cysts |
https://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subco |
Megalencephalic leukoencephalopathy with subcortical cysts is a rare |
html:p |
Megalencephalic leukoencephalopathy with subcortical cysts is a progressive |
ad |
autosomal dominant |
HEPACAM |
https://ghr.nlm.nih.gov/gene/HEPACAM |
infantile leukoencephalopathy and megalencephaly |
db |
key |
2015-03 |
2017-12-29 |
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巨腦性腦白質病伴有皮層下囊腫 |
rtical-cysts |
condition; its exact prevalence is unknown. More than 150 cases have been |
condition that affects brain development and function. Individuals with this |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
leukoencephalopathy with swelling and a discrepantly mild course |
GTR |
C1858854 |
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reported in the scientific literature. |
condition typically have an enlarged brain (megalencephaly) that is evident at |
ar |
autosomal recessive |
MLC1 |
https://ghr.nlm.nih.gov/gene/MLC1 |
leukoencephalopathy with swelling and cysts |
db |
key |
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birth or within the first year of life. Megalencephaly leads to an increase in |
LVM |
GTR |
C3151355 |
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the size of the head (macrocephaly). Affected people also have |
MLC |
db |
key |
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leukoencephalopathy, an abnormality of the brain's white matter. White matter |
vacuolating leukoencephalopathy |
GTR |
C3151356 |
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consists of nerve fibers covered by a fatty substance called myelin. Myelin |
vacuolating megalencephalic leukoencephalopathy with subcortical cysts |
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insulates nerve fibers and promotes the rapid transmission of nerve impulses. In |
van der Knaap disease |
GTR |
CN176898 |
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megalencephalic leukoencephalopathy with subcortical cysts, the myelin is |
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swollen and contains numerous fluid-filled pockets (vacuoles). Over time, the |
GeneReviews |
mlc |
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swelling decreases and the myelin begins to waste away (atrophy). Individuals |
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affected with this condition may develop cysts in the brain; because these cysts |
MeSH |
D020279 |
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form below an area of the brain called the cerebral cortex, they are called |
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subcortical cysts. These cysts can grow in size and number. |
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OMIM |
604004 |
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html:p |
The brain abnormalities in people with megalencephalic leukoencephalopathy with |
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subcortical cysts affect the use of muscles and lead to movement problems. |
OMIM |
613925 |
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Affected individuals typically experience muscle stiffness (spasticity) and |
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difficulty coordinating movements (ataxia). Walking ability varies greatly among |
OMIM |
613926 |
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those affected. Some people lose the ability to walk early in life and need |
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wheelchair assistance, while others are able to walk unassisted well into |
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Orphanet |
2478 |
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adulthood. Minor head trauma can further impair movements and may lead to coma. |
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Affected individuals may also develop uncontrolled muscle tensing (dystonia), |
SNOMED CT |
703536004 |
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involuntary writhing movements of the limbs (athetosis), difficulty swallowing |
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(dysphagia), and impaired speech (dysarthria). More than half of all people with |
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this condition have recurrent seizures (epilepsy). Despite the widespread brain |
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abnormalities, people with this condition typically have only mild to moderate |
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intellectual disability. |
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html:p |
There are three types of megalencephalic leukoencephalopathy with subcortical |
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cysts, which are distinguished by their signs and symptoms and genetic cause. |
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Types 1 and 2A have different genetic causes but are nearly identical in signs |
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and symptoms. Types 2A and 2B have the same genetic cause but the signs and |
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symptoms of type 2B often begin to improve after one year. After improvement, |
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individuals with type 2B usually have macrocephaly and may have intellectual |
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disability. |
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related-gene-list |
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Megalencephaly-capillary malformation syndrome |
https://ghr.nlm.nih.gov/condition/megalencephaly-capillary-malformation-syndrome |
The prevalence of MCAP is unknown. At least 150 affected individuals have |
html:p |
Megalencephaly-capillary malformation syndrome (MCAP) is a disorder |
n |
not inherited |
PIK3CA |
https://ghr.nlm.nih.gov/gene/PIK3CA |
M-CM |
db |
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2017-06 |
2017-12-29 |
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been reported in the medical literature. Because the condition is often thought |
characterized by overgrowth of several tissues in the body. Its primary features |
macrocephaly-capillary malformation syndrome |
GTR |
C1865285 |
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to be misdiagnosed or underdiagnosed, it may be more common than reported. |
are a large brain (megalencephaly) and abnormalities of small blood vessels in |
macrocephaly cutis marmorata telangiectatica congenita |
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the skin called capillaries (capillary malformations). |
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MCAP |
GeneReviews |
pik3ca-overgrowth |
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html:p |
In individuals with MCAP, megalencephaly leads to an unusually large head size |
MCMTC |
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(macrocephaly), which is typically evident at birth. After birth, the brain and |
megalencephaly-capillary malformation-polymicrogyria syndrome |
MeSH |
D054079 |
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head continue to grow at a fast rate for the first few years of life; then, the |
megalencephaly cutis marmorata telangiectatica congenita |
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growth slows to a normal rate, although the head remains larger than average. |
MeSH |
D058627 |
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Additional brain abnormalities are common in people with MCAP; these can include |
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excess fluid within the brain (hydrocephalus) and abnormalities in the brain's |
OMIM |
602501 |
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structure, such as those known as Chiari malformation and polymicrogyria. |
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Abnormal brain development leads to intellectual disability in most affected |
Orphanet |
60040 |
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individuals and can also cause seizures or weak muscle tone (hypotonia). In |
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particular, polymicrogyria is associated with speech delays and difficulty |
|
SNOMED CT |
703370002 |
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chewing and swallowing. |
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html:p |
The capillary malformations characteristic of MCAP are composed of enlarged |
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capillaries that increase blood flow near the surface of the skin. These |
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malformations usually look like pink or red spots on the skin. In most affected |
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individuals, capillary malformations occur on the face, particularly the nose, |
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the upper lip, and the area between the nose and upper lip (the philtrum). In |
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other people with MCAP, the malformations appear as patches spread over the body |
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or as a reddish net-like pattern on the skin (cutis marmorata). |
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html:p |
In some people with MCAP, excessive growth affects not only the brain but other |
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individual parts of the body, which is known as segmental overgrowth. This can |
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lead to one arm or leg that is bigger or longer than the other or a few |
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oversized fingers or toes. Some affected individuals have fusion of the skin |
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between two or more fingers or toes (cutaneous syndactyly). |
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html:p |
Additional features of MCAP can include flexible joints and skin that stretches |
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easily. Some affected individuals are said to have doughy skin because the |
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tissue under the skin is unusually thick and soft. |
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The gene involved in MCAP is also associated with several types of cancer. Only |
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a small number of individuals with MCAP have developed tumors (in particular, a |
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childhood form of kidney cancer known as Wilms tumor and noncancerous tumors in |
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the nervous system known as meningiomas). |
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related-gene-list |
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Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome |
https://ghr.nlm.nih.gov/condition/megalencephaly-polymicrogyria-polydactyly-hydr |
MPPH syndrome appears to be a rare disease. About 60 affected individuals |
html:p |
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome is a |
ad |
autosomal dominant |
AKT3 |
https://ghr.nlm.nih.gov/gene/AKT3 |
MEG-PMG-POLY-HYD |
db |
key |
2017-01 |
2017-12-29 |
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ocephalus-syndrome |
have been described in the medical literature. |
rare disorder that primarily affects the development of the brain. Affected |
related-gene |
gene-symbol |
ghr-page |
megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus syndrome |
GTR |
C1863924 |
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individuals are born with an unusually large brain and head size |
CCND2 |
https://ghr.nlm.nih.gov/gene/CCND2 |
MPPH |
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(megalencephaly). The head and brain continue to grow rapidly during the first 2 |
related-gene |
gene-symbol |
ghr-page |
MPPH syndrome |
GTR |
C4014738 |
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years of life. MPPH syndrome is also associated with a brain abnormality called |
PIK3R2 |
https://ghr.nlm.nih.gov/gene/PIK3R2 |
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bilateral perisylvian polymicrogyria (BPP). The surface of the brain normally |
GTR |
C4014742 |
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has many ridges or folds, called gyri. In people with BPP, an area of the brain |
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called the perisylvian region develops too many gyri, and the folds are |
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GeneReviews |
mpph |
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irregular and unusually small. Other brain abnormalities, including a buildup of |
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fluid in the brain (hydrocephalus), have also been reported in people with MPPH |
MeSH |
D006849 |
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syndrome. |
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html:p |
The problems with brain development cause a variety of neurological signs and |
MeSH |
D017689 |
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symptoms. People with MPPH syndrome have delayed development and intellectual |
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disability that ranges from mild to severe. About half of affected individuals |
MeSH |
D058627 |
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develop recurrent seizures (epilepsy) beginning early in childhood. People with |
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MPPH syndrome also have difficulty coordinating movements of the mouth and |
MeSH |
D065706 |
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tongue (known as oromotor dysfunction), which leads to drooling, difficulty |
db |
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swallowing (dysphagia), and a delay in the production of speech (expressive |
OMIM |
603387 |
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language). |
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html:p |
About half of people with MPPH syndrome have an extra finger or toe on one or |
OMIM |
615937 |
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more of their hands or feet (polydactyly). The polydactyly is described as |
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postaxial because it occurs on the same side of the hand or foot as the pinky |
OMIM |
615938 |
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finger or little toe. |
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html:p |
The brain abnormalities characteristic of MPPH syndrome are also found in a |
Orphanet |
83473 |
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closely related condition called megalencephaly-capillary malformation syndrome |
db |
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(MCAP). However, MCAP includes abnormalities of small blood vessels in the skin |
SNOMED CT |
722036008 |
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(capillary malformations) and several other features that are not usually part |
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of MPPH syndrome. |
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related-gene-list |
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MEGDEL syndrome |
https://ghr.nlm.nih.gov/condition/megdel-syndrome |
MEGDEL syndrome is a rare disorder; its prevalence is unknown. At least 40 |
html:p |
MEGDEL syndrome is an inherited disorder that affects multiple body systems. It |
ar |
autosomal recessive |
SERAC1 |
https://ghr.nlm.nih.gov/gene/SERAC1 |
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy, |
db |
key |
2014-07 |
2017-12-29 |
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affected individuals have been mentioned in the medical literature. |
is named for several of its features: 3-methylglutaconic aciduria (MEG), |
and Leigh-like syndrome |
GTR |
C3553597 |
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deafness (D), encephalopathy (E), and Leigh-like disease (L). |
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like |
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html:p |
MEGDEL syndrome is characterized by abnormally high levels of an acid, called |
syndrome |
GeneReviews |
megdel |
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3-methylglutaconic acid, in the urine (3-methylglutaconic aciduria). MEGDEL |
MEGDHEL syndrome |
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syndrome is one of a group of metabolic disorders that can be diagnosed by |
SERAC1 defect |
ICD-10-CM |
E71.111 |
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presence of this feature. People with MEGDEL syndrome also have high urine |
db |
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levels of another acid called 3-methylglutaric acid. |
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MeSH |
D008052 |
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html:p |
In infancy, individuals with MEGDEL syndrome develop hearing loss caused by |
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changes in the inner ear (sensorineural deafness); the hearing problems |
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OMIM |
614739 |
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gradually worsen over time. |
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html:p |
Another feature of MEGDEL syndrome is brain dysfunction (encephalopathy). In |
Orphanet |
352328 |
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infancy, encephalopathy leads to difficulty feeding, an inability to grow and |
db |
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gain weight at the expected rate (failure to thrive), and weak muscle tone |
SNOMED CT |
711409002 |
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(hypotonia). Infants with MEGDEL syndrome later develop involuntary muscle |
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tensing (dystonia) and muscle stiffness (spasticity), which worsen over time. |
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Because of these brain and muscle problems, affected babies have delayed |
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development of mental and movement abilities (psychomotor delay), or they may |
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lose skills they already developed. Individuals with MEGDEL syndrome have |
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intellectual disability and never learn to speak. |
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html:p |
People with MEGDEL syndrome have changes in the brain that resemble those in |
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another condition called Leigh syndrome. These changes, which can be seen with |
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medical imaging, are referred to as Leigh-like disease. |
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html:p |
Other features that occur commonly in MEGDEL syndrome include low blood sugar |
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(hypoglycemia) in affected newborns; liver problems (hepatopathy) in infancy, |
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which can be serious but improve by early childhood; and episodes of abnormally |
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high amounts of lactic acid in the blood (lactic acidosis). |
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The life expectancy of individuals with MEGDEL syndrome is unknown. Because of |
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the severe health problems caused by the disorder, some affected individuals do |
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not survive past infancy. |
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related-gene-list |
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Meier-Gorlin syndrome |
https://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome |
Meier-Gorlin syndrome is a rare condition; however, its prevalence is |
html:p |
Meier-Gorlin syndrome is a condition primarily characterized by short stature. |
ar |
autosomal recessive |
CDC6 |
https://ghr.nlm.nih.gov/gene/CDC6 |
ear, patella, short stature syndrome |
db |
key |
2014-02 |
2017-12-29 |
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unknown. |
It is considered a form of primordial dwarfism because the growth problems begin |
related-gene |
gene-symbol |
ghr-page |
microtia, absent patellae, micrognathia syndrome |
GTR |
C1868684 |
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before birth (intrauterine growth retardation). After birth, affected |
CDT1 |
https://ghr.nlm.nih.gov/gene/CDT1 |
db |
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individuals continue to grow at a slow rate. Other characteristic features of |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3151097 |
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this condition are underdeveloped or missing kneecaps (patellae), small ears, |
ORC1 |
https://ghr.nlm.nih.gov/gene/ORC1 |
db |
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and, often, an abnormally small head (microcephaly). Despite a small head size, |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3151113 |
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most people with Meier-Gorlin syndrome have normal intellect. |
ORC4 |
https://ghr.nlm.nih.gov/gene/ORC4 |
db |
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html:p |
Some people with Meier-Gorlin syndrome have other skeletal abnormalities, such |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3151120 |
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as unusually narrow long bones in the arms and legs, a deformity of the knee |
ORC6 |
https://ghr.nlm.nih.gov/gene/ORC6 |
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joint that allows the knee to bend backwards (genu recurvatum), and slowed |
GTR |
C3151126 |
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mineralization of bones (delayed bone age). |
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html:p |
Most people with Meier-Gorlin syndrome have distinctive facial features. In |
MeSH |
D004392 |
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addition to being abnormally small, the ears may be low-set or rotated backward. |
db |
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Additional features can include a small mouth (microstomia), an underdeveloped |
OMIM |
224690 |
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lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge. |
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html:p |
Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. In |
OMIM |
613800 |
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some males with this condition, the testes are small or undescended |
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(cryptorchidism). Affected females may have unusually small external genital |
OMIM |
613803 |
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folds (hypoplasia of the labia majora) and small breasts. Both males and females |
db |
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with this condition can have sparse or absent underarm (axillary) hair. |
OMIM |
613804 |
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html:p |
Additional features of Meier-Gorlin syndrome can include difficulty feeding and |
db |
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a lung condition known as pulmonary emphysema or other breathing problems. |
OMIM |
613805 |
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Orphanet |
2554 |
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synonym-list |
db-key-list |
|
SNOMED CT |
703508009 |
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Meige disease |
https://ghr.nlm.nih.gov/condition/meige-disease |
The prevalence of Meige disease is unknown. Collectively, the many types of |
html:p |
Meige disease is a condition that affects the normal function of the lymphatic |
ad |
autosomal dominant |
synonym |
late-onset lymphedema |
key |
2017-12-29 |
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梅格斯综合征 |
primary lymphedema affect an estimated 1 in 100,000 people younger than 20; |
system. The lymphatic system consists of a network of vessels that transport |
synonym |
LMPH2 |
db-key |
C1704425 |
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Meige disease is the most common type of primary lymphedema.For unknown reasons, |
lymphatic fluid and immune cells throughout the body. Meige disease is |
synonym |
lymphedema praecox |
key |
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this condition affects females about three times as often as males. |
characterized by the abnormal transport of lymphatic fluid. When this fluid |
synonym |
Meige lymphedema |
db-key |
Q82.0 |
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builds up abnormally, it causes swelling (lymphedema) in the lower limbs. |
key |
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html:p |
Meige disease is classified as a primary lymphedema, which means it is a form of |
db-key |
D008209 |
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lymphedema that is not caused by other health conditions. In Meige disease, the |
key |
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lymphatic system abnormalities are present from birth (congenital), although |
db-key |
153200 |
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the swelling is not usually apparent until puberty. The swelling often begins in |
key |
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the feet and ankles and progresses up the legs to the knees. Some affected |
db-key |
289825 |
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individuals develop non-contagious skin infections called cellulitis or |
key |
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erysipelas in the legs, which can further damage the vessels that carry |
db-key |
90186 |
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lymphatic fluid. |
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db-key |
400040008 |
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Melanoma |
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黑色素瘤 |
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related-gene-list |
77123007 |
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Melnick-Needles syndrome |
https://ghr.nlm.nih.gov/condition/melnick-needles-syndrome |
Melnick-Needles syndrome is a rare disorder; fewer than 100 cases have been |
html:p |
Melnick-Needles syndrome is a disorder involving abnormalities in skeletal |
xd |
X-linked dominant |
FLNA |
https://ghr.nlm.nih.gov/gene/FLNA |
Melnick-Needles osteodysplasty |
db |
key |
2007-11 |
2017-12-29 |
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Melnick-Needle症候群 |
reported worldwide. |
development and other health problems. It is a member of a group of related |
MNS |
GTR |
C0025237 |
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Melnick-Needle症候群 |
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conditions called otopalatodigital spectrum disorders, which also includes |
osteodysplasty of Melnick and Needles |
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otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, and |
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GeneReviews |
opd |
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frontometaphyseal dysplasia. In general, these disorders involve hearing loss |
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caused by malformations in the tiny bones in the ears (ossicles), problems in |
MeSH |
D010009 |
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the development of the roof of the mouth (palate), and skeletal abnormalities |
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involving the fingers and/or toes (digits). |
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OMIM |
309350 |
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html:p |
Melnick-Needles syndrome is usually the most severe of the otopalatodigital |
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spectrum disorders. People with this condition are usually of short stature, |
Orphanet |
2484 |
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have an abnormal curvature of the spine (scoliosis), partial dislocation |
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(subluxation) of certain joints, and unusually long fingers and toes. They may |
SNOMED CT |
13449007 |
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have bowed limbs; underdeveloped, irregular ribs that can cause problems with |
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breathing; and other abnormal or absent bones. |
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html:p |
Characteristic facial features may include bulging eyes with prominent brow |
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ridges, excess hair growth on the forehead, round cheeks, a very small lower jaw |
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and chin (micrognathia), and misaligned teeth. One side of the face may appear |
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noticeably different from the other (facial asymmetry). Some individuals with |
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this disorder have hearing loss. |
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html:p |
In addition to skeletal abnormalities, individuals with Melnick-Needles syndrome |
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may have obstruction of the ducts between the kidneys and bladder (ureters) or |
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heart defects. |
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html:p |
Males with Melnick-Needles syndrome generally have much more severe signs and |
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symptoms than do females, and in almost all cases die before or soon after |
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birth. |
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synonym-list |
db-key-list |
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Ménière disease |
https://ghr.nlm.nih.gov/condition/meniere-disease |
The prevalence of Ménière disease varies in different geographic regions |
html:p |
Ménière disease is a disorder of the inner ear that affects balance and hearing. |
ad |
autosomal dominant |
synonym |
aural vertigo |
key |
2017-12-29 |
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美尼爾病 |
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and ethnic groups. It appears to be more common in people of European descent |
This condition is characterized by sudden episodes of extreme dizziness |
synonym |
Meniere disease |
db-key |
C0025281 |
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梅尼爾氏症 |
than in those with other backgrounds. In the United States, there are an |
(vertigo), a roaring sound in the ears (tinnitus), a feeling of pressure or |
synonym |
Meniere's disease |
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耳水不平衡 |
estimated 615,000 people with Ménière disease, and more than 45,000 new cases |
fullness in the ears, and fluctuations in hearing. Episodes are often associated |
synonym |
Meniere's syndrome |
db-key |
H81.0 |
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are diagnosed each year. |
with nausea and vomiting, and they can severely disrupt activities of daily |
synonym |
Ménière's disease |
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living. |
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synonym |
Ménière's vertigo |
db-key |
H81.01 |
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html:p |
The episodes associated with Ménière disease generally last several hours. |
synonym |
otogenic vertigo |
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Studies suggest that episodes can be triggered by stress, tiredness (fatigue), |
synonym |
primary endolymphatic hydrops |
db-key |
H81.02 |
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emotional upset, illness, and dietary factors. The timing of these episodes is |
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unpredictable; affected individuals may experience a cluster of episodes within |
db-key |
H81.03 |
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a short period, followed by months or years without any symptoms. |
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html:p |
Ménière disease usually appears in adulthood, most often in a person's 40s or |
db-key |
H81.09 |
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50s. It is much less common in children and young adults. The symptoms of the |
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disorder typically begin in one ear, although they may later involve both ears. |
db-key |
D008575 |
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html:p |
Some people with Ménière disease have no symptoms of the disorder between |
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episodes, particularly in the early stages of the disease. Over time, however, |
db-key |
156000 |
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many affected individuals develop ongoing problems with unsteadiness, tinnitus, |
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and a feeling of fullness in the ears. Additionally, permanent hearing loss |
db-key |
45360 |
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eventually develops in many people with this disorder. |
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related-gene-list |
13445001 |
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Menkes syndrome |
https://ghr.nlm.nih.gov/condition/menkes-syndrome |
The incidence of Menkes syndrome and occipital horn syndrome is estimated |
html:p |
Menkes syndrome is a disorder that affects copper levels in the body. It is |
xr |
X-linked recessive |
ATP7A |
https://ghr.nlm.nih.gov/gene/ATP7A |
Copper transport disease |
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2009-03 |
2017-12-29 |
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Menkes Disease |
to be 1 in 100,000 newborns. |
characterized by sparse, kinky hair; failure to gain weight and grow at the |
Hypocupremia, Congenital |
GTR |
C0022716 |
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緬克斯症候群 |
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expected rate (failure to thrive); and deterioration of the nervous system. |
Kinky Hair Syndrome |
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Additional signs and symptoms include weak muscle tone (hypotonia), sagging |
Menkea syndrome |
GeneReviews |
menkes |
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facial features, seizures, developmental delay, and intellectual disability. |
Menkes Disease |
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Children with Menkes syndrome typically begin to develop symptoms during infancy |
MK |
MeSH |
D007706 |
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and often do not live past age 3. Early treatment with copper may improve the |
MNK |
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prognosis in some affected individuals. In rare cases, symptoms begin later in |
Steely Hair Syndrome |
OMIM |
304150 |
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childhood. |
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X-linked copper deficiency |
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html:p |
Occipital horn syndrome (sometimes called X-linked cutis laxa) is a less severe |
OMIM |
309400 |
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form of Menkes syndrome that begins in early to middle childhood. It is |
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characterized by wedge-shaped calcium deposits in a bone at the base of the |
Orphanet |
565 |
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skull (the occipital bone), coarse hair, and loose skin and joints. |
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key |
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related-gene-list |
|
SNOMED CT |
59178007 |
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Metachromatic leukodystrophy, MLD |
https://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy |
Metachromatic leukodystrophy is reported to occur in 1 in 40,000 to 160,000 |
html:p |
Metachromatic leukodystrophy is an inherited disorder characterized by the |
ar |
autosomal recessive |
ARSA |
https://ghr.nlm.nih.gov/gene/ARSA |
ARSA deficiency |
db |
key |
2013-02 |
2017-12-29 |
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異染性腦白質退化症 |
individuals worldwide. The condition is more common in certain genetically |
accumulation of fats called sulfatides in cells. This accumulation especially |
related-gene |
gene-symbol |
ghr-page |
arylsulfatase A deficiency disease |
GTR |
C0023522 |
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isolated populations: 1 in 75 in a small group of Jews who immigrated to Israel |
affects cells in the nervous system that produce myelin, the substance that |
PSAP |
https://ghr.nlm.nih.gov/gene/PSAP |
cerebral sclerosis, diffuse, metachromatic form |
db |
key |
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from southern Arabia (Habbanites), 1 in 2,500 in the western portion of the |
insulates and protects nerves. Nerve cells covered by myelin make up a tissue |
cerebroside sulphatase deficiency disease |
GTR |
C0268262 |
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Navajo Nation, and 1 in 8,000 among Arab groups in Israel. |
called white matter. Sulfatide accumulation in myelin-producing cells causes |
Greenfield disease |
db |
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progressive destruction of white matter (leukodystrophy) throughout the nervous |
metachromatic leukoencephalopathy |
GeneReviews |
mld |
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system, including in the brain and spinal cord (the central nervous system) and |
MLD |
db |
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the nerves connecting the brain and spinal cord to muscles and sensory cells |
sulfatide lipidosis |
ICD-10-CM |
E75.25 |
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that detect sensations such as touch, pain, heat, and sound (the peripheral |
sulfatidosis |
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nervous system). |
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MeSH |
D007966 |
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html:p |
In people with metachromatic leukodystrophy, white matter damage causes |
db |
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progressive deterioration of intellectual functions and motor skills, such as |
OMIM |
249900 |
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the ability to walk. Affected individuals also develop loss of sensation in the |
db |
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extremities (peripheral neuropathy), incontinence, seizures, paralysis, an |
OMIM |
250100 |
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inability to speak, blindness, and hearing loss. Eventually they lose awareness |
db |
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of their surroundings and become unresponsive. While neurological problems are |
Orphanet |
512 |
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the primary feature of metachromatic leukodystrophy, effects of sulfatide |
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accumulation on other organs and tissues have been reported, most often |
SNOMED CT |
238031009 |
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involving the gallbladder. |
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db |
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html:p |
The most common form of metachromatic leukodystrophy, affecting about 50 to 60 |
SNOMED CT |
24326000 |
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percent of all individuals with this disorder, is called the late infantile |
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form. This form of the disorder usually appears in the second year of life. |
SNOMED CT |
396338004 |
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Affected children lose any speech they have developed, become weak, and develop |
db |
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problems with walking (gait disturbance). As the disorder worsens, muscle tone |
SNOMED CT |
40802007 |
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generally first decreases, and then increases to the point of rigidity. |
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Individuals with the late infantile form of metachromatic leukodystrophy |
|
SNOMED CT |
44359008 |
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typically do not survive past childhood. |
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html:p |
In 20 to 30 percent of individuals with metachromatic leukodystrophy, onset |
SNOMED CT |
68390005 |
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occurs between the age of 4 and adolescence. In this juvenile form, the first |
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signs of the disorder may be behavioral problems and increasing difficulty with |
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schoolwork. Progression of the disorder is slower than in the late infantile |
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form, and affected individuals may survive for about 20 years after diagnosis. |
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html:p |
The adult form of metachromatic leukodystrophy affects approximately 15 to 20 |
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percent of individuals with the disorder. In this form, the first symptoms |
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appear during the teenage years or later. Often behavioral problems such as |
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alcoholism, drug abuse, or difficulties at school or work are the first symptoms |
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to appear. The affected individual may experience psychiatric symptoms such as |
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delusions or hallucinations. People with the adult form of metachromatic |
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leukodystrophy may survive for 20 to 30 years after diagnosis. During this time |
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there may be some periods of relative stability and other periods of more rapid |
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decline. |
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html:p |
Metachromatic leukodystrophy gets its name from the way cells with an |
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accumulation of sulfatides appear when viewed under a microscope. The sulfatides |
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form granules that are described as metachromatic, which means they pick up |
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color differently than surrounding cellular material when stained for |
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examination. |
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related-gene-list |
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Metatropic dysplasia |
https://ghr.nlm.nih.gov/condition/metatropic-dysplasia |
Metatropic dysplasia is a rare disease; its exact prevalence is unknown. |
html:p |
Metatropic dysplasia is a skeletal disorder characterized by short stature |
ad |
autosomal dominant |
TRPV4 |
https://ghr.nlm.nih.gov/gene/TRPV4 |
metatropic dwarfism |
db |
key |
2012-04 |
2017-12-29 |
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(Skeletal) |
More than 80 affected individuals have been reported in the scientific |
(dwarfism) with other skeletal abnormalities. The term "metatropic" is derived |
metatropic dysplasia type 1 |
GTR |
C0265281 |
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literature. |
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from the Greek word "metatropos," which means "changing patterns." This name |
db |
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reflects the fact that the skeletal abnormalities associated with the condition |
GeneReviews |
cmt2c |
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change over time. |
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html:p |
Affected infants are born with a narrow chest and unusually short arms and legs |
MeSH |
D004392 |
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with dumbbell-shaped long bones. Beginning in early childhood, people with this |
db |
key |
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condition develop abnormal side-to-side and front-to-back curvature of the spine |
OMIM |
156530 |
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(scoliosis and kyphosis, often called kyphoscoliosis when they occur together). |
db |
key |
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The curvature worsens with time and tends to be resistant to treatment. Because |
Orphanet |
2635 |
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of the severe kyphoscoliosis, affected individuals may ultimately have a very |
db |
key |
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short torso in relation to the length of their arms and legs. |
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SNOMED CT |
22764001 |
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html:p |
Some people with metatropic dysplasia are born with an elongated tailbone known |
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as a coccygeal tail; it is made of a tough but flexible tissue called cartilage. |
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The coccygeal tail usually shrinks over time. Other skeletal problems |
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associated with metatropic dysplasia include flattened bones of the spine |
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(platyspondyly); excessive movement of spinal bones in the neck that can damage |
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the spinal cord; either a sunken chest (pectus excavatum) or a protruding chest |
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(pectus carinatum); and joint deformities called contractures that restrict the |
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movement of joints in the shoulders, elbows, hips, and knees. Beginning early in |
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life, affected individuals can also develop a degenerative form of arthritis |
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that causes joint pain and further restricts movement. |
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html:p |
The signs and symptoms of metatropic dysplasia can vary from relatively mild to |
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life-threatening. In the most severe cases, the narrow chest and spinal |
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abnormalities prevent the lungs from expanding fully, which restricts breathing. |
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Researchers formerly recognized several distinct forms of metatropic dysplasia |
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based on the severity of the condition's features. The forms included a mild |
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type, a classic type, and a lethal type. However, all of these forms are now |
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considered to be part of a single condition with a spectrum of overlapping signs |
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and symptoms. |
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related-gene-list |
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Methemoglobinemia, beta-globin type |
https://ghr.nlm.nih.gov/condition/methemoglobinemia-beta-globin-type |
The incidence of methemoglobinemia, beta-globin type is unknown. |
html:p |
Methemoglobinemia, beta-globin type is a condition that affects the function of |
ad |
autosomal dominant |
HBB |
https://ghr.nlm.nih.gov/gene/HBB |
blue baby syndrome |
db |
key |
2015-07 |
2017-12-29 |
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red blood cells. Specifically, it alters a molecule called hemoglobin within |
congenital methemoglobinemia |
GTR |
C1840779 |
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these cells. Hemoglobin within red blood cells attaches (binds) to oxygen |
hemoglobin M disease |
db |
key |
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molecules in the lungs, which it carries through the bloodstream, then releases |
ICD-10-CM |
D74.0 |
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in tissues throughout the body. Instead of normal hemoglobin, people with |
db |
key |
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methemoglobinemia, beta-globin type have an abnormal form called methemoglobin, |
MeSH |
D008708 |
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which is unable to efficiently deliver oxygen to the body's tissues. In |
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db |
key |
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methemoglobinemia, beta-globin type, the abnormal hemoglobin gives the blood a |
OMIM |
141900 |
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brown color. It also causes a bluish appearance of the skin, lips, and nails |
db |
key |
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(cyanosis), which usually first appears around the age of 6 months. The signs |
Orphanet |
621 |
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and symptoms of methemoglobinemia, beta-globin type are generally limited to |
db |
key |
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cyanosis, which does not cause any health problems. However, in rare cases, |
Orphanet |
330041 |
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severe methemoglobinemia, beta-globin type can cause headaches, weakness, and |
db |
key |
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fatigue. |
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SNOMED CT |
267550008 |
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Methylmalonate semialdehydede hydrogenase deficiency |
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甲基丙二酸半醛脫氫酶缺乏症 |
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related-gene-list |
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Methylmalonic acidemia, MMA |
https://ghr.nlm.nih.gov/condition/methylmalonic-acidemia |
This condition occurs in an estimated 1 in 50,000 to 100,000 people. |
html:p |
Methylmalonic acidemia is an inherited disorder in which the body is unable to |
ar |
autosomal recessive |
MCEE |
https://ghr.nlm.nih.gov/gene/MCEE |
isolated methylmalonic acidemia |
db |
key |
2011-07 |
2017-12-29 |
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甲基丙二酸血症 |
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process certain proteins and fats (lipids) properly. The effects of |
related-gene |
gene-symbol |
ghr-page |
methylmalonic aciduria |
GTR |
C0268583 |
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methylmalonic acidemia, which usually appear in early infancy, vary from mild to |
MMAA |
https://ghr.nlm.nih.gov/gene/MMAA |
MMA |
db |
key |
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life-threatening. Affected infants can experience vomiting, dehydration, weak |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1855100 |
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muscle tone (hypotonia), developmental delay, excessive tiredness (lethargy), an |
MMAB |
https://ghr.nlm.nih.gov/gene/MMAB |
db |
key |
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enlarged liver (hepatomegaly), and failure to gain weight and grow at the |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1855102 |
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expected rate (failure to thrive). Long-term complications can include feeding |
MMADHC |
https://ghr.nlm.nih.gov/gene/MMADHC |
db |
key |
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problems, intellectual disability, chronic kidney disease, and inflammation of |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1855109 |
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the pancreas (pancreatitis). Without treatment, this disorder can lead to coma |
MUT |
https://ghr.nlm.nih.gov/gene/MUT |
db |
key |
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and death in some cases. |
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GTR |
C1855114 |
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db |
key |
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GeneReviews |
mma |
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db |
key |
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ICD-10-CM |
E71.120 |
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db |
key |
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MeSH |
D008661 |
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db |
key |
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|
OMIM |
251000 |
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db |
key |
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|
OMIM |
251100 |
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db |
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OMIM |
251110 |
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db |
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OMIM |
251120 |
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db |
key |
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OMIM |
277410 |
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db |
key |
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Orphanet |
293355 |
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db |
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SNOMED CT |
42393006 |
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db |
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SNOMED CT |
69614003 |
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db |
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SNOMED CT |
73843004 |
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db |
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related-gene-list |
|
SNOMED CT |
82245003 |
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Methylmalonic acidemia with homocystinuria |
https://ghr.nlm.nih.gov/condition/methylmalonic-acidemia-with-homocystinuria |
The most common form of the condition, called methylmalonic acidemia with |
html:p |
Methylmalonic acidemia with homocystinuria is an inherited disorder in which the |
ar |
autosomal recessive |
ABCD4 |
https://ghr.nlm.nih.gov/gene/ABCD4 |
methylmalonic acidemia and homocystinemia |
db |
key |
2016-02 |
2017-12-29 |
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Cobalamin C defect |
homocystinuria, cblC type, is estimated to affect 1 in 200,000 newborns |
body is unable to properly process protein building blocks (amino acids), |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
methylmalonic acidemia and homocystinuria |
GTR |
C1848552 |
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甲基丙二酸血症併高胱胺酸血症 (Cbl C 型) |
|
worldwide. Studies indicate that this form of the condition may be even more |
certain fats (lipids), and a waxy fat-like substance called cholesterol. |
xr |
X-linked recessive |
HCFC1 |
https://ghr.nlm.nih.gov/gene/HCFC1 |
methylmalonic aciduria and homocystinuria |
db |
key |
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common in particular populations. These studies estimate the condition occurs in |
Individuals with this disorder have a combination of features from two separate |
related-gene |
gene-symbol |
ghr-page |
vitamin B12 metabolic defect with combined deficiency of methylmalonyl-coA |
GTR |
C1848561 |
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1 in 100,000 people in New York and 1 in 60,000 people in California. Other |
conditions, methylmalonic acidemia and homocystinuria. The signs and symptoms of |
LMBRD1 |
https://ghr.nlm.nih.gov/gene/LMBRD1 |
mutase and homocysteine:methyltetrahydrofolate methyltransferase |
db |
key |
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types of methylmalonic acidemia with homocystinuria are much less common. Fewer |
the combined condition, methylmalonic acidemia with homocystinuria, usually |
related-gene |
gene-symbol |
ghr-page |
vitamin B12 metabolic defect with combined deficiency of methylmalonyl-coA |
GTR |
C1848578 |
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than 20 cases of each of the other types have been reported in the medical |
develop in infancy, although they can begin at any age. |
MMACHC |
https://ghr.nlm.nih.gov/gene/MMACHC |
mutase and methionine synthase activities |
db |
key |
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literature. |
html:p |
When the condition begins early in life, affected individuals typically have an |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3553915 |
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inability to grow and gain weight at the expected rate (failure to thrive), |
MMADHC |
https://ghr.nlm.nih.gov/gene/MMADHC |
db |
key |
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which is sometimes recognized before birth (intrauterine growth retardation). |
GeneReviews |
cbl |
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These infants can also have difficulty feeding and an abnormally pale appearance |
db |
key |
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(pallor). Neurological problems are also common in methylmalonic acidemia with |
MeSH |
D000592 |
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homocystinuria, including weak muscle tone (hypotonia) and seizures. Most |
db |
key |
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infants and children with this condition have an unusually small head size |
OMIM |
277380 |
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(microcephaly), delayed development, and intellectual disability. Less common |
db |
key |
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features of the condition include eye problems and a blood disorder called |
OMIM |
277400 |
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megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number |
db |
key |
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of red blood cells (anemia), and the remaining red blood cells are larger than |
OMIM |
277410 |
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normal (megaloblastic). The signs and symptoms of methylmalonic acidemia with |
db |
key |
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homocystinuria worsen over time, and the condition can be life-threatening if |
OMIM |
614857 |
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not treated. |
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db |
key |
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html:p |
When methylmalonic acidemia with homocystinuria begins in adolescence or |
Orphanet |
26 |
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adulthood, the signs and symptoms usually include psychiatric changes and |
db |
key |
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cognitive problems. Affected individuals can exhibit changes in their behavior |
Orphanet |
79282 |
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and personality; they may become less social and may experience hallucinations, |
db |
key |
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delirium, and psychosis. In addition, these individuals can begin to lose |
|
Orphanet |
79283 |
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previously acquired mental and movement abilities, resulting in a decline in |
db |
key |
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school or work performance, difficulty controlling movements, memory problems, |
Orphanet |
79284 |
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speech difficulties, a decline in intellectual function (dementia), or an |
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db |
key |
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extreme lack of energy (lethargy). Some people with methylmalonic acidemia with |
SNOMED CT |
4409006 |
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homocystinuria whose signs and symptoms begin later in life develop a condition |
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called subacute combined degeneration of the spinal cord, which leads to |
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numbness and weakness in the lower limbs, difficulty walking, and frequent |
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falls. |
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related-gene-list |
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Mevalonate kinase deficiency |
https://ghr.nlm.nih.gov/condition/mevalonate-kinase-deficiency |
More than 200 people with mevalonate kinase deficiency have been reported |
html:p |
Mevalonate kinase deficiency is a condition characterized by recurrent episodes |
ar |
autosomal recessive |
MVK |
https://ghr.nlm.nih.gov/gene/MVK |
hyper IgD syndrome |
db |
key |
2011-04 |
2017-12-29 |
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甲羥戊酸激酶缺乏症 |
worldwide; the majority of these individuals have HIDS. |
of fever, which typically begin during infancy. Each episode of fever lasts |
hyperimmunoglobulin D with periodic fever |
GTR |
C0398691 |
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about 3 to 6 days, and the frequency of the episodes varies among affected |
hyperimmunoglobulinemia D |
db |
key |
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individuals. In childhood the fevers seem to be more frequent, occurring as |
mevalonic aciduria |
GTR |
C1959626 |
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often as 25 times a year, but as the individual gets older the episodes occur |
mevalonicaciduria |
db |
key |
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less often. |
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periodic fever, Dutch type |
MeSH |
D054078 |
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html:p |
Mevalonate kinase deficiency has additional signs and symptoms, and the severity |
db |
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depends on the type of the condition. There are two types of mevalonate kinase |
OMIM |
260920 |
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deficiency: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) |
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and a more severe type called mevalonic aciduria (MVA). |
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OMIM |
610377 |
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html:p |
During episodes of fever, people with HIDS typically have enlargement of the |
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lymph nodes (lymphadenopathy), abdominal pain, joint pain, diarrhea, skin |
Orphanet |
29 |
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rashes, and headache. Occasionally they will have painful sores called aphthous |
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ulcers around their mouth. In females, these may also occur around the vagina. A |
SNOMED CT |
124327008 |
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small number of people with HIDS have intellectual disability, problems with |
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movement and balance (ataxia), eye problems, and recurrent seizures (epilepsy). |
SNOMED CT |
234538002 |
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Rarely, people with HIDS develop a buildup of protein deposits (amyloidosis) in |
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the kidneys that can lead to kidney failure. Fever episodes in individuals with |
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HIDS can be triggered by vaccinations, surgery, injury, or stress. Most people |
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with HIDS have abnormally high levels of immune system proteins called |
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immunoglobulin D (IgD) and immunoglobulin A (IgA) in the blood. It is unclear |
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why people with HIDS have high levels of IgD and IgA. Elevated levels of these |
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immunoglobulins do not appear to cause any signs or symptoms. Individuals with |
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HIDS do not have any signs and symptoms of the condition between fever episodes |
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and typically have a normal life expectancy. |
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html:p |
People with MVA have signs and symptoms of the condition at all times, not just |
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during episodes of fever. Affected children have developmental delay, |
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progressive ataxia, progressive problems with vision, and failure to gain weight |
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and grow at the expected rate (failure to thrive). Individuals with MVA |
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typically have an unusually small, elongated head. In childhood or adolescence, |
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affected individuals may develop eye problems such as inflammation of the eye |
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(uveitis), a blue tint in the white part of the eye (blue sclera), an eye |
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disorder called retinitis pigmentosa that causes vision loss, or clouding of the |
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lens of the eye (cataracts). Affected adults may have short stature and may |
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develop muscle weakness (myopathy) later in life. During fever episodes, people |
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with MVA may have an enlarged liver and spleen (hepatosplenomegaly), |
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lymphadenopathy, abdominal pain, diarrhea, and skin rashes. Children with MVA |
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who are severely affected with multiple problems may live only into early |
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childhood; mildly affected individuals may have a normal life expectancy. |
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related-gene-list |
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Microcephalic osteodysplastic primordial dwarfism type II |
https://ghr.nlm.nih.gov/condition/microcephalic-osteodysplastic-primordial-dwarf |
MOPDII appears to be a rare condition, although its prevalence is unknown. |
html:p |
Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a |
ar |
autosomal recessive |
PCNT |
https://ghr.nlm.nih.gov/gene/PCNT |
Majewski osteodysplastic primordial dwarfism type II |
db |
key |
2011-01 |
2017-12-29 |
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ism-type-ii |
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condition characterized by short stature (dwarfism) with other skeletal |
MOPD2 |
GTR |
C0432246 |
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abnormalities (osteodysplasia) and an unusually small head size (microcephaly). |
MOPDII |
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The growth problems in MOPDII are primordial, meaning they begin before birth, |
osteodysplastic primordial dwarfism type II |
MeSH |
D004392 |
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with affected individuals showing slow prenatal growth (intrauterine growth |
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retardation). After birth, affected individuals continue to grow at a very slow |
OMIM |
210720 |
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rate. The final adult height of people with this condition ranges from 20 inches |
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to 40 inches. Other skeletal abnormalities in MOPDII include abnormal |
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Orphanet |
2637 |
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development of the hip joints (hip dysplasia), thinning of the bones in the arms |
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and legs, an abnormal side-to-side curvature of the spine (scoliosis), and |
SNOMED CT |
254103003 |
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shortened wrist bones. In people with MOPDII head growth slows over time; |
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affected individuals have an adult brain size comparable to that of a |
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3-month-old infant. However, intellectual development is typically normal. |
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html:p |
People with this condition typically have a high-pitched, nasal voice that |
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results from a narrowing of the voicebox (subglottic stenosis). Facial features |
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characteristic of MOPDII include a prominent nose, full cheeks, a long midface, |
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and a small jaw. Other signs and symptoms seen in some people with MOPDII |
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include small teeth (microdontia) and farsightedness. Over time, affected |
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individuals may develop areas of abnormally light or dark skin coloring |
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(pigmentation). |
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html:p |
Many individuals with MOPDII have blood vessel abnormalities. For example, some |
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affected individuals develop a bulge in one of the blood vessels at the center |
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of the brain (intracranial aneurysm). These aneurysms are dangerous because they |
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can burst, causing bleeding within the brain. Some affected individuals have |
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Moyamoya disease, in which arteries at the base of the brain are narrowed, |
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leading to restricted blood flow. These vascular abnormalities are often |
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treatable, though they increase the risk of stroke and reduce the life |
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expectancy of affected individuals. |
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related-gene-list |
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Microcephaly-capillary malformation syndrome |
https://ghr.nlm.nih.gov/condition/microcephaly-capillary-malformation-syndrome |
Microcephaly-capillary malformation syndrome is rare. About a dozen people |
html:p |
Microcephaly-capillary malformation syndrome is an inherited disorder |
ar |
autosomal recessive |
STAMBP |
https://ghr.nlm.nih.gov/gene/STAMBP |
MIC-CAP syndrome |
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2014-02 |
2017-12-29 |
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have been diagnosed with the disorder. |
characterized by an abnormally small head size (microcephaly) and abnormalities |
GTR |
C3280296 |
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of small blood vessels in the skin called capillaries (capillary malformations). |
db |
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html:p |
In people with microcephaly-capillary malformation syndrome, microcephaly begins |
GeneReviews |
miccap-ms |
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before birth and is associated with an unusually small brain and multiple brain |
db |
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abnormalities. Affected individuals develop seizures that can occur many times |
MeSH |
D008831 |
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per day and are difficult to treat (intractable epilepsy). The problems with |
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brain development and epilepsy lead to profound developmental delay and |
MeSH |
D054079 |
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intellectual impairment. Most affected individuals do not develop skills beyond |
db |
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those of a 1- or 2-month-old infant. For example, most children with this |
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OMIM |
614261 |
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condition are never able to control their head movements or sit unassisted. |
db |
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html:p |
Capillary malformations are composed of enlarged capillaries that increase blood |
Orphanet |
294016 |
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flow near the surface of the skin. These malformations look like pink or red |
db |
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spots on the skin. People with microcephaly-capillary malformation syndrome are |
SNOMED CT |
703369003 |
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born with anywhere from a few to hundreds of these spots, which can occur |
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anywhere on the body. The spots are usually round or oval-shaped and range in |
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size from the head of a pin to a large coin. |
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html:p |
Other signs and symptoms of microcephaly-capillary malformation syndrome include |
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abnormal movements, feeding difficulties, slow growth, and short stature. Most |
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affected individuals have abnormalities of the fingers and toes, including |
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digits with tapered ends and abnormally small or missing fingernails and |
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toenails. Some affected children also have distinctive facial features and an |
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unusual pattern of hair growth on the scalp. |
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related-gene-list |
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Microphthalmia |
https://ghr.nlm.nih.gov/condition/microphthalmia |
Microphthalmia occurs in approximately 1 in 10,000 individuals. |
html:p |
Microphthalmia is an eye abnormality that arises before birth. In this |
ar |
autosomal recessive |
BCOR |
https://ghr.nlm.nih.gov/gene/BCOR |
microphthalmos |
db |
key |
2011-11 |
2017-12-29 |
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小眼 |
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condition, one or both eyeballs are abnormally small. In some affected |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0026010 |
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individuals, the eyeball may appear to be completely missing; however, even in |
BMP4 |
https://ghr.nlm.nih.gov/gene/BMP4 |
db |
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these cases some remaining eye tissue is generally present. Such severe |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1834918 |
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microphthalmia should be distinguished from another condition called |
GDF3 |
https://ghr.nlm.nih.gov/gene/GDF3 |
db |
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anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1834919 |
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and severe microphthalmia are often used interchangeably. Microphthalmia may or |
GDF6 |
https://ghr.nlm.nih.gov/gene/GDF6 |
db |
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may not result in significant vision loss. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1845877 |
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html:p |
People with microphthalmia may also have a condition called coloboma. Colobomas |
MFRP |
https://ghr.nlm.nih.gov/gene/MFRP |
db |
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are missing pieces of tissue in structures that form the eye. They may appear as |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1854018 |
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notches or gaps in the colored part of the eye called the iris; the retina, |
OTX2 |
https://ghr.nlm.nih.gov/gene/OTX2 |
db |
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which is the specialized light-sensitive tissue that lines the back of the eye; |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1855052 |
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the blood vessel layer under the retina called the choroid; or in the optic |
PAX6 |
https://ghr.nlm.nih.gov/gene/PAX6 |
db |
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nerves, which carry information from the eyes to the brain. Colobomas may be |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1855053 |
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present in one or both eyes and, depending on their size and location, can |
PRSS56 |
https://ghr.nlm.nih.gov/gene/PRSS56 |
db |
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affect a person's vision. |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C1859311 |
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html:p |
People with microphthalmia may also have other eye abnormalities, including |
RAX |
https://ghr.nlm.nih.gov/gene/RAX |
db |
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clouding of the lens of the eye (cataract) and a narrowed opening of the eye |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1864720 |
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(narrowed palpebral fissure). Additionally, affected individuals may have an |
SHH |
https://ghr.nlm.nih.gov/gene/SHH |
db |
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abnormality called microcornea, in which the clear front covering of the eye |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1864721 |
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(cornea) is small and abnormally curved. |
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SIX6 |
https://ghr.nlm.nih.gov/gene/SIX6 |
db |
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html:p |
Between one-third and one-half of affected individuals have microphthalmia as |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1968843 |
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part of a syndrome that affects other organs and tissues in the body. These |
SOX2 |
https://ghr.nlm.nih.gov/gene/SOX2 |
db |
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forms of the condition are described as syndromic. When microphthalmia occurs by |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1970236 |
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itself, it is described as nonsyndromic or isolated. |
STRA6 |
https://ghr.nlm.nih.gov/gene/STRA6 |
db |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C1970237 |
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VSX2 |
https://ghr.nlm.nih.gov/gene/VSX2 |
db |
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GTR |
C2751307 |
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|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GTR |
C3150757 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GTR |
C3150968 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GTR |
C3150969 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GTR |
C3554524 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GTR |
CN120488 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
GeneReviews |
anophthalmia-ov |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
ICD-10-CM |
Q11.2 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
MeSH |
D008850 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
156850 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
156900 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
212550 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
251505 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
251600 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
300345 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
605738 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
610092 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
610093 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
611038 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
611040 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
611638 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
613094 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
613517 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
613703 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
613704 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
615113 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OMIM |
615145 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Orphanet |
2542 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Orphanet |
2543 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Orphanet |
98555 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
db |
key |
|
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|
|
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|
|
|
|
|
|
|
|
|
|
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|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
Orphanet |
98938 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
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|
|
|
|
|
|
|
|
|
|
db |
key |
|
|
|
|
|
|
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related-gene-list |
|
SNOMED CT |
61142002 |
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Microphthalmia with linear skin defects syndrome |
https://ghr.nlm.nih.gov/condition/microphthalmia-with-linear-skin-defects-syndro |
The prevalence of microphthalmia with linear skin defects syndrome is |
html:p |
Microphthalmia with linear skin defects syndrome is a disorder that mainly |
xd |
X-linked dominant |
HCCS |
https://ghr.nlm.nih.gov/gene/HCCS |
MCOPS7 |
db |
key |
2009-10 |
2017-12-29 |
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me |
unknown. More than 50 affected individuals have been identified. |
affects females. In people with this condition, one or both eyes may be very |
related-chromosome |
name |
ghr-page |
microphthalmia syndromic 7 |
GTR |
C0796070 |
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small or poorly developed (microphthalmia). Affected individuals also typically |
X |
https://ghr.nlm.nih.gov/chromosome/X |
microphthalmia with linear skin lesions syndrome |
db |
key |
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have unusual linear skin markings on the head and neck. These markings follow |
microphthalmia, dermal aplasia, and sclerocornea |
GeneReviews |
microph-lsd |
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the paths along which cells migrate as the skin develops before birth (lines of |
microphthalmia, syndromic 7 |
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Blaschko). The skin defects generally improve over time and leave variable |
MIDAS syndrome |
MeSH |
D008850 |
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degrees of scarring. |
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MLS syndrome |
db |
key |
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html:p |
The signs and symptoms of microphthalmia with linear skin defects syndrome vary |
syndromic microphthalmia-7 |
OMIM |
309801 |
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widely, even among affected individuals within the same family. In addition to |
db |
key |
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the characteristic eye problems and skin markings, this condition can cause |
Orphanet |
2556 |
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abnormalities in the brain, heart, and genitourinary system. A hole in the |
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muscle that separates the abdomen from the chest cavity (the diaphragm), which |
SNOMED CT |
721879006 |
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is called a diaphragmatic hernia, may occur in people with this disorder. |
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Affected individuals may also have short stature and fingernails and toenails |
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that do not grow normally (nail dystrophy). |
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related-gene-list |
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Microvillus inclusion disease |
https://ghr.nlm.nih.gov/condition/microvillus-inclusion-disease |
The prevalence of microvillus inclusion disease is unknown. At least 200 |
html:p |
Microvillus inclusion disease is a condition characterized by chronic, watery, |
ar |
autosomal recessive |
MYO5B |
https://ghr.nlm.nih.gov/gene/MYO5B |
congenital enteropathy |
db |
key |
2014-07 |
2017-12-29 |
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微絨毛包涵病 |
cases have been reported in Europe, although this condition occurs worldwide. |
life-threatening diarrhea typically beginning in the first hours to days of |
related-gene |
gene-symbol |
ghr-page |
congenital familial protracted diarrhea with enterocyte brush-border |
GTR |
C0341306 |
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life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake |
STX3 |
https://ghr.nlm.nih.gov/gene/STX3 |
abnormalities |
db |
key |
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increases the frequency of diarrhea. |
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congenital microvillous atrophy |
MeSH |
D008286 |
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html:p |
Microvillus inclusion disease prevents the absorption of nutrients from food |
Davidson disease |
db |
key |
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during digestion, resulting in malnutrition and dehydration. Affected infants |
familial protracted enteropathy |
OMIM |
251850 |
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often have difficulty gaining weight and growing at the expected rate (failure |
intractable diarrhea of infancy |
db |
key |
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to thrive), developmental delay, liver and kidney problems, and thinning of the |
microvillous atrophy |
Orphanet |
2290 |
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bones (osteoporosis). Some affected individuals develop cholestasis, which is a |
microvillous inclusion disease |
db |
key |
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reduced ability to produce and release a digestive fluid called bile. |
microvillus atrophy with diarrhea 2 |
SNOMED CT |
235729009 |
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Cholestasis leads to irreversible liver disease (cirrhosis). |
|
MVID |
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html:p |
In individuals with microvillus inclusion disease, lifelong nutritional support |
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is needed and given through intravenous feedings (parenteral nutrition). Even |
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with nutritional supplementation, most children with microvillus inclusion |
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disease do not survive beyond childhood. |
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html:p |
A variant of microvillus inclusion disease with milder diarrhea often does not |
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require full-time parenteral nutrition. Individuals with the variant type |
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frequently live past childhood. |
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related-gene-list |
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Miller-Dieker syndrome, MDS |
https://ghr.nlm.nih.gov/condition/miller-dieker-syndrome |
Miller-Dieker syndrome appears to be a rare disorder, although its |
html:p |
Miller-Dieker syndrome is a condition characterized by a pattern of abnormal |
ad |
autosomal dominant |
PAFAH1B1 |
https://ghr.nlm.nih.gov/gene/PAFAH1B1 |
classical lissencephaly syndrome |
db |
key |
2009-11 |
2017-12-29 |
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Miller-Dieker 综合症 |
prevalence is unknown. |
brain development known as lissencephaly. Normally the exterior of the brain |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
MDS |
GTR |
C0265219 |
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Miller-Dieker 症候群 |
|
(cerebral cortex) is multi-layered with folds and grooves. People with |
n |
not inherited |
YWHAE |
https://ghr.nlm.nih.gov/gene/YWHAE |
Miller-Dieker lissencephaly syndrome |
db |
key |
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lissencephaly have an abnormally smooth brain with fewer folds and grooves. |
related-chromosome |
name |
ghr-page |
|
GeneReviews |
chrom17-lis |
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These brain malformations cause severe intellectual disability, developmental |
17 |
https://ghr.nlm.nih.gov/chromosome/17 |
db |
key |
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delay, seizures, abnormal muscle stiffness (spasticity), weak muscle tone |
MeSH |
D054221 |
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(hypotonia), and feeding difficulties. Seizures usually begin before six months |
db |
key |
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of age, and some occur from birth. Typically, the smoother the surface of the |
OMIM |
247200 |
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brain is, the more severe the associated symptoms are. |
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db |
key |
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html:p |
In addition to lissencephaly, people with Miller-Dieker syndrome tend to have |
Orphanet |
531 |
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distinctive facial features that include a prominent forehead; a sunken |
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db |
key |
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appearance in the middle of the face (midface hypoplasia); a small, upturned |
SNOMED CT |
253148005 |
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nose; low-set and abnormally shaped ears; a small jaw; and a thick upper lip. |
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Some individuals with this condition also grow more slowly than other children. |
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Rarely, affected individuals will have heart or kidney malformations or an |
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opening in the wall of the abdomen (an omphalocele) that allows the abdominal |
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organs to protrude through the navel. People with Miller-Dieker syndrome may |
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also have life-threatening breathing problems. Most individuals with this |
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condition do not survive beyond childhood. |
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related-gene-list |
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Miller syndrome |
https://ghr.nlm.nih.gov/condition/miller-syndrome |
Miller syndrome is a rare disorder; it is estimated to affect fewer than 1 |
html:p |
Miller syndrome is a rare condition that mainly affects the development of the |
ar |
autosomal recessive |
DHODH |
https://ghr.nlm.nih.gov/gene/DHODH |
Genee-Wiedemann acrofacial dysostosis |
db |
key |
2010-08 |
2017-12-29 |
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米勒症候群 |
in 1 million newborns. At least 30 cases have been reported in the medical |
face and limbs. The severity of this disorder varies among affected individuals. |
Genee-Wiedemann syndrome |
GTR |
C0265257 |
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literature. |
html:p |
Children with Miller syndrome are born with underdeveloped cheek bones (malar |
postaxial acrofacial dysostosis (POADS) |
db |
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hypoplasia) and a very small lower jaw (micrognathia). They often have an |
MeSH |
D003394 |
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opening in the roof of the mouth (cleft palate) and/or a split in the upper lip |
db |
key |
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(cleft lip). These abnormalities frequently cause feeding problems in infants |
OMIM |
263750 |
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with Miller syndrome. The airway is usually restricted due to the micrognathia, |
db |
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which can lead to life-threatening breathing problems. |
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Orphanet |
246 |
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html:p |
People with Miller syndrome often have eyes that slant downward, eyelids that |
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turn out so the inner surface is exposed (ectropion), and a notch in the lower |
SNOMED CT |
66038001 |
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eyelids called an eyelid coloboma. Many affected individuals have small, |
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cup-shaped ears, and some have hearing loss caused by defects in the middle ear |
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(conductive hearing loss). Another feature of this condition is the presence of |
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extra nipples. Miller syndrome does not affect a person's intelligence, although |
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speech development may be delayed due to hearing impairment. |
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html:p |
Individuals with Miller syndrome have various bone abnormalities in their arms |
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and legs. The most common problem is absent fifth (pinky) fingers and toes. |
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Affected individuals may also have webbed or fused fingers or toes (syndactyly) |
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and abnormally formed bones in the forearms and lower legs. People with Miller |
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syndrome sometimes have defects in other bones, such as the ribs or spine. |
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html:p |
Less commonly, affected individuals have abnormalities of the heart, kidneys, |
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genitalia, or gastrointestinal tract. |
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related-gene-list |
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Milroy disease |
https://ghr.nlm.nih.gov/condition/milroy-disease |
Milroy disease is a rare disorder; its incidence is unknown. |
html:p |
Milroy disease is a condition that affects the normal function of the lymphatic |
ad |
autosomal dominant |
FLT4 |
https://ghr.nlm.nih.gov/gene/FLT4 |
congenital familial lymphedema |
db |
key |
2013-04 |
2017-12-29 |
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(Lymphedema) |
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system. The lymphatic system produces and transports fluids and immune cells |
hereditary lymphedema type I |
GTR |
C1704423 |
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throughout the body. Impaired transport with accumulation of lymph fluid can |
Milroy's disease |
db |
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cause swelling (lymphedema). Individuals with Milroy disease typically have |
Nonne-Milroy lymphedema |
GeneReviews |
milroy |
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lymphedema in their lower legs and feet at birth or develop it in infancy. The |
db |
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lymphedema typically occurs on both sides of the body and may worsen over time. |
ICD-10-CM |
Q82.0 |
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html:p |
Milroy disease is associated with other features in addition to lymphedema. |
db |
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Males with Milroy disease are sometimes born with an accumulation of fluid in |
MeSH |
D008209 |
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the scrotum (hydrocele). Males and females may have upslanting toenails, deep |
db |
key |
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creases in the toes, wart-like growths (papillomas), and prominent leg veins. |
OMIM |
153100 |
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Some individuals develop non-contagious skin infections called cellulitis that |
db |
key |
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can damage the thin tubes that carry lymph fluid (lymphatic vessels). Episodes |
Orphanet |
2416 |
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of cellulitis can cause further swelling in the lower limbs. |
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related-gene-list |
|
SNOMED CT |
399889006 |
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Mitochondrial complex I deficiency |
https://ghr.nlm.nih.gov/condition/mitochondrial-complex-i-deficiency |
Mitochondrial diseases are thought to occur in about 1 in 8,500 people. |
html:p |
Mitochondrial complex I deficiency is a shortage (deficiency) of a protein |
ar |
autosomal recessive |
ACAD9 |
https://ghr.nlm.nih.gov/gene/ACAD9 |
NADH-coenzyme Q reductase deficiency |
db |
key |
2017-11 |
2017-12-29 |
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粒線體Complex I缺乏症 |
Mitochondrial complex I deficiency is the most common cause of mitochondrial |
complex called complex I or a loss of its function. Complex I is found in cell |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
NADH:Q(1) oxidoreductase deficiency |
GTR |
C1838979 |
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disease in children, accounting for approximately 30 percent of cases. |
structures called mitochondria, which convert the energy from food into a form |
m |
mitochondrial |
ELAC2 |
https://ghr.nlm.nih.gov/gene/ELAC2 |
db |
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that cells can use. Complex I is the first of five mitochondrial complexes that |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
mt-overview |
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carry out a multi-step process called oxidative phosphorylation, through which |
x |
X-linked |
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FOXRED1 |
https://ghr.nlm.nih.gov/gene/FOXRED1 |
db |
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cells derive much of their energy. |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D028361 |
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html:p |
Mitochondrial complex I deficiency can cause a wide variety of signs and |
MT-ND1 |
https://ghr.nlm.nih.gov/gene/MT-ND1 |
db |
key |
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symptoms affecting many organs and systems of the body, particularly the nervous |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
252010 |
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system, the heart, and the muscles used for movement (skeletal muscles). These |
MT-ND2 |
https://ghr.nlm.nih.gov/gene/MT-ND2 |
db |
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signs and symptoms can appear at any time from birth to adulthood. |
related-gene |
gene-symbol |
ghr-page |
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Orphanet |
2609 |
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html:p |
People with mitochondrial complex I deficiency typically have neurological |
MT-ND3 |
https://ghr.nlm.nih.gov/gene/MT-ND3 |
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problems, such as abnormal brain function (encephalopathy), recurrent seizures |
related-gene |
gene-symbol |
ghr-page |
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(epilepsy), intellectual disability, difficulty coordinating movements (ataxia), |
MT-ND4 |
https://ghr.nlm.nih.gov/gene/MT-ND4 |
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or involuntary movements (dystonia). Affected individuals may have low muscle |
related-gene |
gene-symbol |
ghr-page |
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tone (hypotonia), muscle pain (myalgia), and extreme fatigue in response to |
MT-ND4L |
https://ghr.nlm.nih.gov/gene/MT-ND4L |
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physical activity (exercise intolerance). They tend to develop elevated levels |
related-gene |
gene-symbol |
ghr-page |
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of lactic acid in the blood (lactic acidosis), which can cause nausea, vomiting, |
MT-ND5 |
https://ghr.nlm.nih.gov/gene/MT-ND5 |
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weakness, and rapid breathing. In severe cases, lactic acidosis can be |
related-gene |
gene-symbol |
ghr-page |
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life-threatening. |
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MT-ND6 |
https://ghr.nlm.nih.gov/gene/MT-ND6 |
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html:p |
People with mitochondrial complex I deficiency sometimes have heart, liver, or |
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kidney problems. Vision problems due to abnormal eye movement or breakdown |
MT-TL1 |
https://ghr.nlm.nih.gov/gene/MT-TL1 |
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(degeneration) of the nerves that carry signals from the eyes to the brain |
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(optic nerves) can also occur. |
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MTFMT |
https://ghr.nlm.nih.gov/gene/MTFMT |
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html:p |
Some people with mitochondrial complex I deficiency have groups of signs and |
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symptoms that are classified as a specific syndrome. For example, a condition |
NDUFA1 |
https://ghr.nlm.nih.gov/gene/NDUFA1 |
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called Leigh syndrome is most commonly caused by mitochondrial complex I |
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deficiency. Leigh syndrome is characterized by progressive loss of mental and |
NDUFA2 |
https://ghr.nlm.nih.gov/gene/NDUFA2 |
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movement abilities (developmental or psychomotor regression) and typically |
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results in death within 2 to 3 years from the onset of symptoms. Another |
NDUFA9 |
https://ghr.nlm.nih.gov/gene/NDUFA9 |
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condition that can be caused by mitochondrial complex I deficiency, Leber |
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hereditary optic neuropathy, is associated mainly with vision problems due to |
NDUFA10 |
https://ghr.nlm.nih.gov/gene/NDUFA10 |
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optic nerve degeneration. These syndromes can also have other causes. |
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NDUFA11 |
https://ghr.nlm.nih.gov/gene/NDUFA11 |
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related-gene |
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NDUFA12 |
https://ghr.nlm.nih.gov/gene/NDUFA12 |
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related-gene |
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NDUFA13 |
https://ghr.nlm.nih.gov/gene/NDUFA13 |
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NDUFAF1 |
https://ghr.nlm.nih.gov/gene/NDUFAF1 |
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NDUFAF2 |
https://ghr.nlm.nih.gov/gene/NDUFAF2 |
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related-gene |
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NDUFAF3 |
https://ghr.nlm.nih.gov/gene/NDUFAF3 |
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related-gene |
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NDUFAF4 |
https://ghr.nlm.nih.gov/gene/NDUFAF4 |
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related-gene |
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NDUFAF5 |
https://ghr.nlm.nih.gov/gene/NDUFAF5 |
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related-gene |
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NDUFAF6 |
https://ghr.nlm.nih.gov/gene/NDUFAF6 |
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related-gene |
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NDUFB3 |
https://ghr.nlm.nih.gov/gene/NDUFB3 |
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related-gene |
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NDUFB9 |
https://ghr.nlm.nih.gov/gene/NDUFB9 |
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related-gene |
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NDUFB10 |
https://ghr.nlm.nih.gov/gene/NDUFB10 |
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related-gene |
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NDUFB11 |
https://ghr.nlm.nih.gov/gene/NDUFB11 |
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related-gene |
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NDUFS1 |
https://ghr.nlm.nih.gov/gene/NDUFS1 |
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NDUFS2 |
https://ghr.nlm.nih.gov/gene/NDUFS2 |
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NDUFS3 |
https://ghr.nlm.nih.gov/gene/NDUFS3 |
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related-gene |
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NDUFS4 |
https://ghr.nlm.nih.gov/gene/NDUFS4 |
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NDUFS6 |
https://ghr.nlm.nih.gov/gene/NDUFS6 |
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related-gene |
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NDUFS7 |
https://ghr.nlm.nih.gov/gene/NDUFS7 |
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related-gene |
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NDUFS8 |
https://ghr.nlm.nih.gov/gene/NDUFS8 |
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related-gene |
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NDUFV1 |
https://ghr.nlm.nih.gov/gene/NDUFV1 |
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related-gene |
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NDUFV2 |
https://ghr.nlm.nih.gov/gene/NDUFV2 |
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related-gene |
gene-symbol |
ghr-page |
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NUBPL |
https://ghr.nlm.nih.gov/gene/NUBPL |
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related-gene |
gene-symbol |
ghr-page |
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PPA2 |
https://ghr.nlm.nih.gov/gene/PPA2 |
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related-gene |
gene-symbol |
ghr-page |
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TIMMDC1 |
https://ghr.nlm.nih.gov/gene/TIMMDC1 |
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related-gene |
gene-symbol |
ghr-page |
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TMEM126B |
https://ghr.nlm.nih.gov/gene/TMEM126B |
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related-gene-list |
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Mitochondrial complex III deficiency |
https://ghr.nlm.nih.gov/condition/mitochondrial-complex-iii-deficiency |
The prevalence of mitochondrial complex III deficiency is unknown, although |
html:p |
Mitochondrial complex III deficiency is a genetic condition that can affect |
ar |
autosomal recessive |
BCS1L |
https://ghr.nlm.nih.gov/gene/BCS1L |
isolated CoQ-cytochrome c reductase deficiency |
db |
key |
2014-04 |
2017-12-29 |
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粒線體Complex III缺乏症 |
the condition is thought to be rare. |
several parts of the body, including the brain, kidneys, liver, heart, and the |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ubiquinone-cytochrome c oxidoreductase deficiency |
GTR |
C1852372 |
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muscles used for movement (skeletal muscles). Signs and symptoms of |
m |
mitochondrial |
CYC1 |
https://ghr.nlm.nih.gov/gene/CYC1 |
db |
key |
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mitochondrial complex III deficiency usually begin in infancy but can appear |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3554605 |
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later. |
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LYRM7 |
https://ghr.nlm.nih.gov/gene/LYRM7 |
db |
key |
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html:p |
The severity of mitochondrial complex III deficiency varies widely among |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3554606 |
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affected individuals. People who are mildly affected tend to have muscle |
MT-CYB |
https://ghr.nlm.nih.gov/gene/MT-CYB |
db |
key |
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weakness (myopathy) and extreme tiredness (fatigue), particularly during |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3554607 |
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exercise (exercise intolerance). More severely affected individuals have |
TTC19 |
https://ghr.nlm.nih.gov/gene/TTC19 |
db |
key |
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problems with multiple body systems, such as liver disease that can lead to |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3554608 |
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liver failure, kidney abnormalities (tubulopathy), and brain dysfunction |
UQCC2 |
https://ghr.nlm.nih.gov/gene/UQCC2 |
db |
key |
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(encephalopathy). Encephalopathy can cause delayed development of mental and |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3809553 |
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motor skills (psychomotor delay), movement problems, weak muscle tone |
UQCRB |
https://ghr.nlm.nih.gov/gene/UQCRB |
db |
key |
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(hypotonia), and difficulty with communication. Some affected individuals have a |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C4014408 |
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form of heart disease called cardiomyopathy, which can lead to heart failure. |
UQCRC2 |
https://ghr.nlm.nih.gov/gene/UQCRC2 |
db |
key |
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Most people with mitochondrial complex III deficiency have a buildup of a |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C4014440 |
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chemical called lactic acid in the body (lactic acidosis). Some affected |
UQCRQ |
https://ghr.nlm.nih.gov/gene/UQCRQ |
db |
key |
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individuals also have buildup of molecules called ketones (ketoacidosis) or high |
related-mitochondrial-dna |
name |
ghr-page |
|
GeneReviews |
mt-overview |
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blood sugar levels (hyperglycemia). Abnormally high levels of these chemicals |
mitochondrial DNA |
https://ghr.nlm.nih.gov/mitochondrial-dna |
db |
key |
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in the body can be life-threatening. |
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MeSH |
D028361 |
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html:p |
Mitochondrial complex III deficiency can be fatal in childhood, although |
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db |
key |
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individuals with mild signs and symptoms can survive into adolescence or |
OMIM |
124000 |
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adulthood. |
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db |
key |
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OMIM |
615157 |
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db |
key |
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OMIM |
615158 |
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db |
key |
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OMIM |
615159 |
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db |
key |
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OMIM |
615160 |
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db |
key |
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OMIM |
615453 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
709414007 |
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Mitochondrial complex V deficiency |
https://ghr.nlm.nih.gov/condition/mitochondrial-complex-v-deficiency |
The prevalence of mitochondrial complex V deficiency is unknown. |
html:p |
Mitochondrial complex V deficiency is a shortage (deficiency) of a protein |
ar |
autosomal recessive |
ATP5F1A |
https://ghr.nlm.nih.gov/gene/ATP5F1A |
ATP synthase deficiency |
db |
key |
2017-11 |
2017-12-29 |
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Researchers suggest that the condition may be underdiagnosed because affected |
complex called complex V or a loss of its function. Complex V is found in cell |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
|
GeneReviews |
mt-overview |
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individuals can have a wide variety of features that are not specific to this |
structures called mitochondria, which convert the energy from food into a form |
m |
mitochondrial |
ATP5F1E |
https://ghr.nlm.nih.gov/gene/ATP5F1E |
db |
key |
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condition. |
that cells can use. Complex V is the last of five mitochondrial complexes that |
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D028361 |
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carry out a multistep process called oxidative phosphorylation, through which |
ATPAF2 |
https://ghr.nlm.nih.gov/gene/ATPAF2 |
db |
key |
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cells derive much of their energy. |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
604273 |
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html:p |
Mitochondrial complex V deficiency can cause a wide variety of signs and |
MT-ATP6 |
https://ghr.nlm.nih.gov/gene/MT-ATP6 |
db |
key |
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symptoms affecting many organs and systems of the body, particularly the nervous |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
614052 |
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system and the heart. The disorder can be life-threatening in infancy or early |
MT-ATP8 |
https://ghr.nlm.nih.gov/gene/MT-ATP8 |
db |
key |
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childhood. Affected individuals may have feeding problems, slow growth, low |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
614053 |
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muscle tone (hypotonia), extreme fatigue (lethargy), and developmental delay. |
TMEM70 |
https://ghr.nlm.nih.gov/gene/TMEM70 |
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They tend to develop elevated levels of lactic acid in the blood (lactic |
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OMIM |
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acidosis), which can cause nausea, vomiting, weakness, and rapid breathing. High |
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levels of ammonia in the blood (hyperammonemia) can also occur in affected |
Orphanet |
1194 |
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individuals, and in some cases result in abnormal brain function |
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(encephalopathy) and damage to other organs. |
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SNOMED CT |
237992004 |
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html:p |
Another common feature of mitochondrial complex V deficiency is hypertrophic |
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cardiomyopathy. This condition is characterized by thickening (hypertrophy) of |
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the heart (cardiac) muscle that can lead to heart failure. People with |
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mitochondrial complex V deficiency may also have a characteristic pattern of |
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facial features, including a high forehead, curved eyebrows, outside corners of |
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the eyes that point downward (downslanting palpebral fissures), a prominent |
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bridge of the nose, low-set ears, thin lips, and a small chin (micrognathia). |
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html:p |
Some people with mitochondrial complex V deficiency have groups of signs and |
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symptoms that are classified as a specific syndrome. For example, mitochondrial |
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complex V deficiency can cause a condition called neuropathy, ataxia, and |
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retinitis pigmentosa (NARP). NARP causes a variety of signs and symptoms chiefly |
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affecting the nervous system. Beginning in childhood or early adulthood, most |
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people with NARP experience numbness, tingling, or pain in the arms and legs |
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(sensory neuropathy); muscle weakness; and problems with balance and |
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coordination (ataxia). Many affected individuals also have cognitive impairment |
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and an eye disorder called retinitis pigmentosa that causes vision loss. |
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html:p |
A condition called Leigh syndrome can also be caused by mitochondrial complex V |
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deficiency. Leigh syndrome is characterized by progressive loss of mental and |
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movement abilities (developmental or psychomotor regression) and typically |
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results in death within 2 to 3 years after the onset of symptoms. Both NARP and |
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Leigh syndrome can also have other causes. |
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Mitochondrial disorder |
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粒線體疾病 |
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Mitochondrial DNA Depletion syndrome, MDS |
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粒線體DNA耗竭症候群 |
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Mitochondrial DNA Large Deletion |
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粒線體去氧核酸大片段缺失 |
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related-gene-list |
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Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, MELAS |
https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and--stroke-like-episodes |
The exact incidence of MELAS is unknown. It is one of the more common |
html:p |
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes |
m |
mitochondrial |
MT-ND1 |
https://ghr.nlm.nih.gov/gene/MT-ND1 |
MELAS |
db |
key |
2013-12 |
2017-12-29 |
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粒線體腦病變、乳酸血症及類中風症狀 |
s-and-stroke-like-episodes |
conditions in a group known as mitochondrial diseases. Together, mitochondrial |
(MELAS) is a condition that affects many of the body's systems, particularly the |
related-gene |
gene-symbol |
ghr-page |
MELAS syndrome |
GTR |
C0162671 |
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diseases occur in about 1 in 4,000 people. |
brain and nervous system (encephalo-) and muscles (myopathy). The signs and |
MT-ND5 |
https://ghr.nlm.nih.gov/gene/MT-ND5 |
mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like |
db |
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symptoms of this disorder most often appear in childhood following a period of |
related-gene |
gene-symbol |
ghr-page |
episodes |
GeneReviews |
melas |
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normal development, although they can begin at any age. Early symptoms may |
MT-TH |
https://ghr.nlm.nih.gov/gene/MT-TH |
mitochondrial myopathy, lactic acidosis, stroke-like episode |
db |
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include muscle weakness and pain, recurrent headaches, loss of appetite, |
related-gene |
gene-symbol |
ghr-page |
myopathy, mitochondrial-encephalopathy-lactic acidosis-stroke |
GeneReviews |
mt-overview |
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vomiting, and seizures. Most affected individuals experience stroke-like |
MT-TL1 |
https://ghr.nlm.nih.gov/gene/MT-TL1 |
db |
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episodes beginning before age 40. These episodes often involve temporary muscle |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
E88.41 |
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weakness on one side of the body (hemiparesis), altered consciousness, vision |
MT-TV |
https://ghr.nlm.nih.gov/gene/MT-TV |
db |
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abnormalities, seizures, and severe headaches resembling migraines. Repeated |
related-mitochondrial-dna |
name |
ghr-page |
|
MeSH |
D017241 |
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stroke-like episodes can progressively damage the brain, leading to vision loss, |
mitochondrial DNA |
https://ghr.nlm.nih.gov/mitochondrial-dna |
db |
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problems with movement, and a loss of intellectual function (dementia). |
|
OMIM |
540000 |
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html:p |
Most people with MELAS have a buildup of lactic acid in their bodies, a |
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key |
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condition called lactic acidosis. Increased acidity in the blood can lead to |
Orphanet |
550 |
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vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and |
db |
key |
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difficulty breathing. Less commonly, people with MELAS may experience |
SNOMED CT |
39925003 |
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involuntary muscle spasms (myoclonus), impaired muscle coordination (ataxia), |
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hearing loss, heart and kidney problems, diabetes, and hormonal imbalances. |
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related-gene-list |
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Mitochondrial membrane protein-associated neurodegeneration |
https://ghr.nlm.nih.gov/condition/mitochondrial-membrane-protein-associated-neurodegeneration |
MPAN is a rare condition that is estimated to affect less than 1 in 1 |
html:p |
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a disorder |
ar |
autosomal recessive |
C19orf12 |
https://ghr.nlm.nih.gov/gene/C19orf12 |
mitochondrial membrane protein-associated neurodegeneration due to C19orf12 |
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key |
2017-01 |
2017-12-29 |
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million people. |
of the nervous system. The condition typically begins in childhood or early |
mutation |
GTR |
C3280371 |
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adulthood and worsens (progresses) over time. |
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mitochondrial protein-associated neurodegeneration |
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html:p |
MPAN commonly begins with difficulty walking. As the condition progresses, |
MPAN |
GeneReviews |
mt-mpan |
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affected individuals usually develop other movement problems, including muscle |
NBIA4 |
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stiffness (spasticity) and involuntary muscle cramping (dystonia). Many people |
neurodegeneration with brain iron accumulation 4 |
GeneReviews |
nbia-ov |
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with MPAN have a pattern of movement abnormalities known as parkinsonism. These |
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abnormalities include unusually slow movement (bradykinesia), muscle rigidity, |
MeSH |
D019150 |
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involuntary trembling (tremors), and an inability to hold the body upright and |
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balanced (postural instability). |
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OMIM |
614298 |
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html:p |
Other neurological problems that occur in individuals with MPAN include |
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degeneration of the nerve cells that carry visual information from the eyes to |
Orphanet |
289560 |
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the brain (optic atrophy), which can impair vision; problems with speech |
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(dysarthria); difficulty swallowing (dysphagia); and, in later stages of the |
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SNOMED CT |
709415008 |
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condition, an inability to control the bowels or the flow of urine |
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(incontinence). Additionally, affected individuals may experience a loss of |
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intellectual function (dementia) and psychiatric symptoms such as behavioral |
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problems, mood swings, hyperactivity, and depression. |
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html:p |
MPAN is characterized by an abnormal buildup of iron in certain regions of the |
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brain. Because of these deposits, MPAN is considered part of a group of |
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conditions known as neurodegeneration with brain iron accumulation (NBIA). |
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related-gene-list |
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Mitochondrial neurogastrointestinal encephalopathy disease |
https://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalop |
The prevalence of MNGIE disease is unknown. About 70 people with this |
html:p |
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a |
ar |
autosomal recessive |
TYMP |
https://ghr.nlm.nih.gov/gene/TYMP |
MEPOP |
db |
key |
2008-06 |
2017-12-29 |
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Mitochondrial Neurogastrointestinal Encephalopathy Syndrome |
athy-disease |
disorder have been reported. |
condition that affects several parts of the body, particularly the digestive |
Mitochondrial myopathy with sensorimotor polyneuropathy, ophthalmoplegia, and |
GTR |
C0872218 |
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MNGIE症候群 (粒線體性神經胃腸腦病變症候群) |
system and nervous system. The major features of MNGIE disease can appear |
pseudo-obstruction |
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anytime from infancy to adulthood, but signs and symptoms most often begin by |
Mitochondrial neurogastrointestinal encephalopathy syndrome |
GeneReviews |
mngie |
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age 20. The medical problems associated with this disorder worsen with time. |
MNGIE disease |
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html:p |
Abnormalities of the digestive system are among the most common and severe |
MNGIE syndrome |
ICD-10-CM |
E88.49 |
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features of MNGIE disease. Almost all affected people have a condition known as |
Myoneurogastrointestinal encephalopathy syndrome |
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gastrointestinal dysmotility, in which the muscles and nerves of the digestive |
Oculogastrointestinal muscular dystrophy |
MeSH |
D028361 |
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system do not move food through the digestive tract efficiently. The resulting |
OGIMD |
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digestive problems include feelings of fullness (satiety) after eating only a |
POLIP |
OMIM |
603041 |
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small amount, trouble swallowing (dysphagia), nausea and vomiting after eating, |
Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal |
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episodes of abdominal pain, diarrhea, and intestinal blockage. These |
pseudo-obstruction |
Orphanet |
298 |
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gastrointestinal problems lead to extreme weight loss and reduced muscle mass |
Thymidine phosphorylase deficiency |
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(cachexia). |
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SNOMED CT |
124273008 |
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html:p |
MNGIE disease is also characterized by abnormalities of the nervous system, |
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although these tend to be milder than the gastrointestinal problems. Affected |
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individuals experience tingling, numbness, and weakness in their limbs |
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(peripheral neuropathy), particularly in the hands and feet. Additional |
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neurological signs and symptoms can include droopy eyelids (ptosis), weakness of |
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the muscles that control eye movement (ophthalmoplegia), and hearing loss. |
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Leukoencephalopathy, which is the deterioration of a type of brain tissue known |
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as white matter, is a hallmark of MNGIE disease. These changes in the brain can |
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be seen with magnetic resonance imaging (MRI), though they usually do not cause |
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symptoms in people with this disorder. |
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related-gene-list |
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Mitochondrial trifunctional protein deficiency |
https://ghr.nlm.nih.gov/condition/mitochondrial-trifunctional-protein-deficiency |
Mitochondrial trifunctional protein deficiency is a rare disorder; its |
html:p |
Mitochondrial trifunctional protein deficiency is a rare condition that prevents |
ar |
autosomal recessive |
HADHA |
https://ghr.nlm.nih.gov/gene/HADHA |
MTP deficiency |
db |
key |
2013-05 |
2017-12-29 |
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incidence is unknown. |
the body from converting certain fats to energy, particularly during periods |
related-gene |
gene-symbol |
ghr-page |
TFP deficiency |
GTR |
C0342786 |
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without food (fasting). |
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HADHB |
https://ghr.nlm.nih.gov/gene/HADHB |
TPA deficiency |
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html:p |
Signs and symptoms of mitochondrial trifunctional protein deficiency may begin |
trifunctional protein deficiency, type 2 |
MeSH |
D008052 |
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during infancy or later in life. Features that occur during infancy include |
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feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), |
OMIM |
609015 |
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weak muscle tone (hypotonia), and liver problems. Infants with this disorder |
db |
key |
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are also at high risk for serious heart problems, breathing difficulties, coma, |
Orphanet |
746 |
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and sudden death. Signs and symptoms of mitochondrial trifunctional protein |
db |
key |
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deficiency that may begin after infancy include hypotonia, muscle pain, a |
SNOMED CT |
237999008 |
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breakdown of muscle tissue, and a loss of sensation in the extremities |
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(peripheral neuropathy). |
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html:p |
Problems related to mitochondrial trifunctional protein deficiency can be |
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triggered by periods of fasting or by illnesses such as viral infections. This |
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disorder is sometimes mistaken for Reye syndrome, a severe disorder that may |
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develop in children while they appear to be recovering from viral infections |
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such as chicken pox or flu. Most cases of Reye syndrome are associated with the |
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use of aspirin during these viral infections. |
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related-gene-list |
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Miyoshi myopathy |
https://ghr.nlm.nih.gov/condition/miyoshi-myopathy |
The exact prevalence of Miyoshi myopathy is unknown. In Japan, where the |
html:p |
Miyoshi myopathy is a muscle disorder that begins with weakness in the muscles |
ar |
autosomal recessive |
ANO5 |
https://ghr.nlm.nih.gov/gene/ANO5 |
distal muscular dystrophy, Miyoshi type |
db |
key |
2016-12 |
2017-12-29 |
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三好氏远端肌肉病变 |
condition was first described, it is estimated to affect 1 in 440,000 |
that are located away from the center of the body (distal muscles), such as |
related-gene |
gene-symbol |
ghr-page |
Miyoshi distal myopathy |
GTR |
C1850808 |
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individuals. |
those in the legs. During early to mid-adulthood, affected individuals typically |
DYSF |
https://ghr.nlm.nih.gov/gene/DYSF |
Miyoshi muscular dystrophy |
db |
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begin to experience muscle weakness and wasting (atrophy) in one or both |
MMD |
GTR |
C2750076 |
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calves. If only one leg is affected, the calves appear different in size |
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(asymmetrical). Calf weakness can make it difficult to stand on tiptoe. |
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GeneReviews |
ano5-md |
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html:p |
As Miyoshi myopathy slowly worsens, the muscle weakness and atrophy spread up |
db |
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the leg to the muscles in the thigh and buttock and can also involve the upper |
GeneReviews |
miyoshi |
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arm and shoulder muscles. Eventually, affected individuals may have difficulty |
db |
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climbing stairs or walking for an extended period of time. Some people with |
MeSH |
D049310 |
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Miyoshi myopathy may eventually need wheelchair assistance. |
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html:p |
Rarely, abnormal heart rhythms (arrhythmias) have developed in people with |
OMIM |
254130 |
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Miyoshi myopathy. Individuals with Miyoshi myopathy have highly elevated levels |
db |
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of an enzyme called creatine kinase (CK) in their blood, which often indicates |
OMIM |
613319 |
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muscle disease. |
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db |
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Orphanet |
45448 |
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db |
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synonym-list |
db-key-list |
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SNOMED CT |
111506000 |
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Moebius syndrome |
https://ghr.nlm.nih.gov/condition/moebius-syndrome |
The exact incidence of Moebius syndrome is unknown. Researchers estimate |
html:p |
Moebius syndrome is a rare neurological condition that primarily affects the |
u |
pattern unknown |
synonym |
congenital ophthalmoplegia and facial paresis |
key |
2017-12-29 |
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Moebius症候群 |
that the condition affects 1 in 50,000 to 1 in 500,000 newborns. |
muscles that control facial expression and eye movement. The signs and symptoms |
synonym |
Mobius syndrome |
db-key |
C0221060 |
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of this condition are present from birth. |
synonym |
Moebius congenital oculofacial paralysis |
key |
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html:p |
Weakness or paralysis of the facial muscles is one of the most common features |
synonym |
Moebius sequence |
db-key |
D020331 |
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of Moebius syndrome. Affected individuals lack facial expressions; they cannot |
synonym |
Moebius spectrum |
key |
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smile, frown, or raise their eyebrows. The muscle weakness also causes problems |
synonym |
Möbius sequence |
db-key |
157900 |
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with feeding that become apparent in early infancy. |
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html:p |
Many people with Moebius syndrome are born with a small chin (micrognathia) and |
db-key |
570 |
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a small mouth (microstomia) with a short or unusually shaped tongue. The roof of |
key |
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the mouth may have an abnormal opening (cleft palate) or be high and arched. |
89444000 |
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These abnormalities contribute to problems with speech, which occur in many |
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children with Moebius syndrome. Dental abnormalities, including missing and |
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misaligned teeth, are also common. |
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html:p |
Moebius syndrome also affects muscles that control back-and-forth eye movement. |
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Affected individuals must move their head from side to side to read or follow |
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the movement of objects. People with this disorder have difficulty making eye |
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contact, and their eyes may not look in the same direction (strabismus). |
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Additionally, the eyelids may not close completely when blinking or sleeping, |
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which can result in dry or irritated eyes. |
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html:p |
Other features of Moebius syndrome can include bone abnormalities in the hands |
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and feet, weak muscle tone (hypotonia), and hearing loss. Affected children |
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often experience delayed development of motor skills (such as crawling and |
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walking), although most eventually acquire these skills. |
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html:p |
Some research studies have suggested that children with Moebius syndrome are |
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more likely than unaffected children to have characteristics of autism spectrum |
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disorders, which are a group of conditions characterized by impaired |
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communication and social interaction. However, recent studies have questioned |
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this association. Because people with Moebius syndrome have difficulty with eye |
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contact and speech due to their physical differences, autism spectrum disorders |
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can be difficult to diagnose in these individuals. Moebius syndrome may also be |
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associated with a somewhat increased risk of intellectual disability; however, |
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most affected individuals have normal intelligence. |
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related-gene-list |
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Molybdenum cofactor deficiency |
https://ghr.nlm.nih.gov/condition/molybdenum-cofactor-deficiency |
Molybdenum cofactor deficiency is a rare condition that is estimated to |
html:p |
Molybdenum cofactor deficiency is a rare condition characterized by brain |
ar |
autosomal recessive |
GPHN |
https://ghr.nlm.nih.gov/gene/GPHN |
combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde |
db |
key |
2014-03 |
2017-12-29 |
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鉬輔酶缺乏症 |
occur in 1 in 100,000 to 200,000 newborns worldwide. More than 100 cases have |
dysfunction (encephalopathy) that worsens over time. Babies with this condition |
related-gene |
gene-symbol |
ghr-page |
oxidase |
GTR |
C0268119 |
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been reported in the medical literature, although it is thought that the |
appear normal at birth, but within a week they have difficulty feeding and |
MOCS1 |
https://ghr.nlm.nih.gov/gene/MOCS1 |
combined molybdoflavoprotein enzyme deficiency |
db |
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condition is underdiagnosed, so the number of affected individuals may be |
develop seizures that do not improve with treatment (intractable seizures). |
related-gene |
gene-symbol |
ghr-page |
combined xanthine oxidase and sulfite oxidase and aldehyde oxidase deficiency |
GTR |
C1854988 |
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higher. |
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Brain abnormalities, including deterioration (atrophy) of brain tissue, lead to |
MOCS2 |
https://ghr.nlm.nih.gov/gene/MOCS2 |
deficiency of molybdenum cofactor |
db |
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severe developmental delay; affected individuals usually do not learn to sit |
MOCOD |
GTR |
C1854989 |
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unassisted or to speak. A small percentage of affected individuals have an |
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exaggerated startle reaction (hyperekplexia) to unexpected stimuli such as loud |
GTR |
C1854990 |
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noises. Other features of molybdenum cofactor deficiency can include a small |
db |
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head size (microcephaly) and facial features that are described as "coarse." |
MeSH |
D020739 |
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html:p |
Tests reveal that affected individuals have high levels of chemicals called |
db |
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sulfite, S-sulfocysteine, xanthine, and hypoxanthine in the urine and low levels |
OMIM |
252150 |
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of a chemical called uric acid in the blood. |
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html:p |
Because of the serious health problems caused by molybdenum cofactor deficiency, |
OMIM |
252160 |
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affected individuals usually do not survive past early childhood. |
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OMIM |
615501 |
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db |
key |
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Orphanet |
99732 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
29692004 |
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Monilethrix |
https://ghr.nlm.nih.gov/condition/monilethrix |
The prevalence of monilethrix is unknown. |
html:p |
Monilethrix is a condition that affects hair growth. Its most characteristic |
ad |
autosomal dominant |
DSG4 |
https://ghr.nlm.nih.gov/gene/DSG4 |
beaded hair |
db |
key |
2012-03 |
2017-12-29 |
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念珠形髮 |
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feature is that individual strands of hair have a beaded appearance like the |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0546966 |
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beads of a necklace. The name monilethrix comes from the Latin word for necklace |
ar |
autosomal recessive |
KRT81 |
https://ghr.nlm.nih.gov/gene/KRT81 |
db |
key |
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(monile) and the Greek word for hair (thrix). Noticeable when viewed under a |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D056734 |
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microscope, the beaded appearance is due to periodic narrowing of the hair |
KRT83 |
https://ghr.nlm.nih.gov/gene/KRT83 |
db |
key |
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shaft. People with monilethrix also have sparse hair growth (hypotrichosis) and |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
158000 |
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short, brittle hair that breaks easily. |
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KRT86 |
https://ghr.nlm.nih.gov/gene/KRT86 |
db |
key |
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html:p |
Affected individuals usually have normal hair at birth, but the hair |
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Orphanet |
573 |
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abnormalities develop within the first few months of life. In mild cases of |
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monilethrix, only hair on the back of the head (occiput) or nape of the neck is |
SNOMED CT |
69488000 |
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affected. In more severe cases, hair over the whole scalp can be affected, as |
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well as pubic hair, underarm hair, eyebrows, eyelashes, or hair on the arms and |
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legs. |
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html:p |
Occasionally, the skin and nails are involved in monilethrix. Some affected |
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individuals have a skin condition called keratosis pilaris, which causes small |
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bumps on the skin, especially on the scalp, neck, and arms. Affected individuals |
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may also have abnormal fingernails or toenails. |
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related-gene-list |
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Monoamine oxidase A deficiency |
https://ghr.nlm.nih.gov/condition/monoamine-oxidase-a-deficiency |
Monoamine oxidase A deficiency is thought to be very rare. Its prevalence |
html:p |
Monoamine oxidase A deficiency is a rare disorder that occurs almost exclusively |
xr |
X-linked recessive |
MAOA |
https://ghr.nlm.nih.gov/gene/MAOA |
Brunner syndrome |
db |
key |
2017-05 |
2017-12-29 |
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is unknown. |
in males. It is characterized by mild intellectual disability and behavioral |
deficiency of monoamine oxidase A |
GTR |
C0796275 |
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problems beginning in early childhood. |
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X-linked monoamine oxidase deficiency |
db |
key |
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html:p |
Most boys with monoamine oxidase A deficiency are less able to control their |
MeSH |
D008607 |
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impulses than their peers, causing aggressive or violent outbursts. In addition, |
db |
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affected individuals may have features of other behavioral disorders, including |
MeSH |
D040181 |
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autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD). |
db |
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These features can include obsessive behaviors, difficulty forming friendships, |
OMIM |
300615 |
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and problems focusing attention. Sleep problems, such as trouble falling asleep |
db |
key |
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or night terrors, can also occur in monoamine oxidase A deficiency. |
|
Orphanet |
3057 |
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html:p |
Some people with monoamine oxidase A deficiency have episodes of skin flushing, |
db |
key |
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sweating, headaches, or diarrhea. Similar episodes can occur in female family |
SNOMED CT |
718210003 |
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members of males with monoamine oxidase A deficiency, although females do not |
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experience other signs or symptoms of the condition. |
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html:p |
In some cases, certain foods, such as cheese, appear to worsen symptoms of |
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monoamine oxidase A deficiency. |
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related-gene-list |
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Mosaic variegated aneuploidy syndrome |
https://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome |
MVA syndrome is a rare condition. Its prevalence is unknown. |
html:p |
Mosaic variegated aneuploidy (MVA) syndrome is a rare disorder in which some |
ar |
autosomal recessive |
BUB1B |
https://ghr.nlm.nih.gov/gene/BUB1B |
mosaic variegated aneuplody microcephaly syndrome |
db |
key |
2017-07 |
2017-12-29 |
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cells in the body have an abnormal number of chromosomes instead of the usual 46 |
related-gene |
gene-symbol |
ghr-page |
MVA syndrome |
GTR |
C1850343 |
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chromosomes, a situation known as aneuploidy. Most commonly, cells have an |
CEP57 |
https://ghr.nlm.nih.gov/gene/CEP57 |
Warburton-Anyane-Yeboa syndrome |
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extra chromosome, which is called trisomy, or are missing a chromosome, which is |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3279843 |
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known as monosomy. In MVA syndrome, some cells are aneuploid and others have |
TRIP13 |
https://ghr.nlm.nih.gov/gene/TRIP13 |
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the normal number of chromosomes, which is a phenomenon known as mosaicism. |
MeSH |
D000782 |
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Typically, at least one-quarter of cells in affected individuals have an |
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abnormal number of chromosomes. Because the additional or missing chromosomes |
OMIM |
257300 |
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vary among the abnormal cells, the aneuploidy is described as variegated. |
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html:p |
In MVA syndrome, growth before birth is slow (intrauterine growth restriction). |
OMIM |
614114 |
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After birth, affected individuals continue to grow at a slow rate and are |
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shorter than average. In addition, they typically have an unusually small head |
Orphanet |
1052 |
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size (microcephaly). Another common feature of MVA syndrome is an increased risk |
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of developing cancer in childhood. Cancers that occur most frequently in |
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SNOMED CT |
700056005 |
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affected individuals include a cancer of muscle tissue called rhabdomyosarcoma, |
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a form of kidney cancer known as Wilms tumor, and a cancer of the blood-forming |
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tissue known as leukemia. |
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html:p |
Less commonly, people with MVA syndrome have eye abnormalities or distinctive |
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facial features, such as a broad nasal bridge and low-set ears. Some affected |
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individuals have brain abnormalities, the most common of which is called |
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Dandy-Walker malformation. Intellectual disability, seizures, and other health |
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problems can also occur in people with MVA syndrome. |
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html:p |
There are at least three types of MVA syndrome, each with a different genetic |
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cause. Type 1 is the most common and displays the classic signs and symptoms |
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described above. Type 2 appears to have slightly different signs and symptoms |
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than type 1, although the small number of affected individuals makes it |
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difficult to define its characteristic features. Individuals with MVA syndrome |
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type 2 grow slowly before and after birth; however, their head size is typically |
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normal. Some people with MVA syndrome type 2 have unusually short arms. |
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Individuals with MVA syndrome type 2 do not seem to have an increased risk of |
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cancer. Another form of MVA syndrome is characterized by a high risk of |
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developing Wilms tumor. Individuals with this form may also have other signs and |
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symptoms typical of MVA syndrome type 1. |
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related-gene-list |
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Mowat-Wilson syndrome |
https://ghr.nlm.nih.gov/condition/mowat-wilson-syndrome |
The prevalence of Mowat-Wilson syndrome is unknown. More than 200 people |
html:p |
Mowat-Wilson syndrome is a genetic condition that affects many parts of the |
ad |
autosomal dominant |
ZEB2 |
https://ghr.nlm.nih.gov/gene/ZEB2 |
Hirschsprung disease-mental retardation syndrome |
db |
key |
2015-06 |
2017-12-29 |
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Mowat-Wilson氏症候群 |
with this condition have been reported in the medical literature. |
body. Major signs of this disorder frequently include distinctive facial |
microcephaly, mental retardation, and distinct facial features, with or without |
GTR |
C1856113 |
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features, intellectual disability, delayed development, an intestinal disorder |
Hirschsprung disease |
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called Hirschsprung disease, and other birth defects. |
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MWS |
GeneReviews |
mws |
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html:p |
Children with Mowat-Wilson syndrome have a square-shaped face with deep-set, |
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widely spaced eyes. They also have a broad nasal bridge with a rounded nasal |
MeSH |
D000015 |
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tip; a prominent and pointed chin; large, flaring eyebrows; and uplifted |
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earlobes with a dimple in the middle. These facial features become more |
MeSH |
D006627 |
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distinctive with age, and adults with Mowat-Wilson syndrome have an elongated |
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face with heavy eyebrows and a pronounced chin and jaw. Affected people tend to |
OMIM |
235730 |
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have a smiling, open-mouthed expression, and they typically have friendly and |
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happy personalities. |
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Orphanet |
2152 |
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html:p |
Mowat-Wilson syndrome is often associated with an unusually small head |
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(microcephaly), structural brain abnormalities, and intellectual disability |
|
SNOMED CT |
703535000 |
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ranging from moderate to severe. Speech is absent or severely impaired, and |
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affected people may learn to speak only a few words. Many people with this |
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condition can understand others' speech, however, and some use sign language to |
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communicate. If speech develops, it is delayed until mid-childhood or later. |
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Children with Mowat-Wilson syndrome also have delayed development of motor |
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skills such as sitting, standing, and walking. |
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html:p |
More than half of people with Mowat-Wilson syndrome are born with an intestinal |
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disorder called Hirschsprung disease that causes severe constipation, intestinal |
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blockage, and enlargement of the colon. Chronic constipation also occurs |
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frequently in people with Mowat-Wilson syndrome who have not been diagnosed with |
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Hirschsprung disease. |
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html:p |
Other features of Mowat-Wilson syndrome include short stature, seizures, heart |
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defects, and abnormalities of the urinary tract and genitalia. Less commonly, |
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this condition also affects the eyes, teeth, hands, and skin coloring |
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(pigmentation). Although many different medical issues have been associated |
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with Mowat-Wilson syndrome, not every individual with this condition has all of |
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these features. |
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related-gene-list |
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Moyamoya disease |
https://ghr.nlm.nih.gov/condition/moyamoya-disease |
Moyamoya disease was first identified in Japan, where it is most prevalent, |
html:p |
Moyamoya disease is a disorder of blood vessels in the brain, specifically the |
ad |
autosomal dominant |
RNF213 |
https://ghr.nlm.nih.gov/gene/RNF213 |
cerebrovascular moyamoya disease |
db |
key |
2017-10 |
2017-12-29 |
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毛毛樣腦血管疾病 |
affecting about 5 in 100,000 individuals. The condition is also relatively |
internal carotid arteries and the arteries that branch from them. These vessels, |
code |
memo |
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moya-moya disease |
GTR |
C0026654 |
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common in other Asian populations. It is ten times less common in Europe. In the |
which provide oxygen-rich blood to the brain, narrow over time. Narrowing of |
u |
pattern unknown |
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progressive intracranial arterial occlusion |
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United States, Asian Americans are four times more commonly affected than |
these vessels reduces blood flow in the brain. In an attempt to compensate, new |
progressive intracranial occlusive arteropathy |
GTR |
C1837418 |
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whites. For unknown reasons, moyamoya disease occurs twice as often in females |
networks of small, fragile blood vessels form. These networks, visualized by a |
spontaneous occlusion of the Circle of Willis |
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as in males. |
particular test called an angiogram, resemble puffs of smoke, which is how the |
GTR |
C1846689 |
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condition got its name: "moyamoya" is an expression meaning "something hazy like |
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a puff of smoke" in Japanese. |
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GTR |
C3279690 |
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html:p |
Moyamoya disease commonly begins either around age 5 or in a person's thirties |
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or forties. A lack of blood supply to the brain leads to several symptoms of the |
ICD-10-CM |
I67.5 |
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disorder, including temporary stroke-like episodes (transient ischemic |
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attacks), strokes, and seizures. In addition, the fragile blood vessels that |
MeSH |
D009072 |
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grow can develop bulges (aneurysms), or they can break open, leading to bleeding |
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(hemorrhage) in the brain. Affected individuals may develop recurrent |
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OMIM |
252350 |
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headaches, involuntary jerking movements (chorea), or a decline in thinking |
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ability. The symptoms of moyamoya disease often worsen over time if the |
OMIM |
607151 |
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condition is not treated. |
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html:p |
Some people have the blood vessel changes characteristic of moyamoya disease in |
OMIM |
608796 |
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addition to features of another disorder, such as neurofibromatosis type 1, |
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sickle cell disease, or Graves disease. These individuals are said to have |
OMIM |
614042 |
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moyamoya syndrome. |
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Orphanet |
2573 |
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inheritance-pattern-list |
related-gene-list |
SNOMED CT |
69116000 |
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MPV17-related hepatocerebral mitochondrial DNA depletion syndrome |
https://ghr.nlm.nih.gov/condition/mpv17-related-hepatocerebral-mitochondrial-dna |
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is |
html:p |
html:i |
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ar |
autosomal recessive |
ghr-page |
mitochondrial DNA depletion syndrome 6 |
db-key |
db |
key |
2013-01 |
2017-12-29 |
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-depletion-syndrome |
thought to be a rare condition. Approximately 30 cases have been described in |
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is |
https://ghr.nlm.nih.gov/gene/MPV17 |
MPV17-associated hepatocerebral MDS |
GTR |
C1850406 |
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the scientific literature, including seven families with Navajo |
an inherited disorder that can cause liver disease and neurological problems. |
MTDPS6 |
db-key |
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neurohepatopathy. Within the Navajo Nation of the southwestern United States, |
The signs and symptoms of this condition begin in infancy and typically include vomiting, |
Navajo familial neurogenic arthropathy |
GeneReviews |
mpv17-mtdep |
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Navajo neurohepatopathy is estimated to occur in 1 in 1,600 newborns. |
diarrhea, and an inability to grow or gain weight at the expected rate (failure to thrive). |
Navajo neurohepatopathy |
db-key |
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Many affected infants have a buildup of a chemical called lactic acid in the body (lactic acidosis) |
Navajo neuropathy |
|
MeSH |
D028361 |
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and low blood sugar (hypoglycemia). Within the first weeks of life, infants develop liver disease |
NNH |
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that quickly progresses to liver failure. The liver is frequently enlarged (hepatomegaly) and liver |
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OMIM |
256810 |
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cells often have a reduced ability to release a digestive fluid called bile (cholestasis). Rarely, |
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affected children develop liver cancer. After the onset of liver disease, many affected infants |
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Orphanet |
255229 |
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develop neurological problems, which can include developmental delay, weak muscle tone |
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(hypotonia), and reduced sensation in the limbs (peripheral neuropathy). Individuals with |
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SNOMED CT |
237995002 |
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MPV17-related hepatocerebral mitochondrial DNA depletion syndrome typically |
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survive only into infancy or early childhood. |
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html:p |
html:i |
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MPV17 |
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-related hepatocerebral mitochondrial DNA depletion syndrome. In addition to the |
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signs and symptoms described above, people with Navajo neurohepatopathy may |
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have problems with sensing pain that can lead to painless bone fractures and |
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self-mutilation of the fingers or toes. Individuals with Navajo neurohepatopathy |
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may lack feeling in the clear front covering of the eye (corneal anesthesia), |
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which can lead to open sores and scarring on the cornea, resulting in impaired |
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vision. The cause of these additional features is unknown. |
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related-gene-list |
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Muckle-Wells syndrome |
https://ghr.nlm.nih.gov/condition/muckle-wells-syndrome |
Muckle-Wells syndrome is a rare disorder. It has been reported in many |
html:p |
Muckle-Wells syndrome is a disorder characterized by periodic episodes of skin |
ad |
autosomal dominant |
NLRP3 |
https://ghr.nlm.nih.gov/gene/NLRP3 |
familial amyloid nephropathy with urticaria and deafness |
db |
key |
2008-09 |
2017-12-29 |
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穆-韦二氏综合征:淀粉样变性-耳聋-荨麻疹-肢痛综合征 |
regions of the world, but its prevalence is unknown. |
rash, fever, and joint pain. Progressive hearing loss and kidney damage also |
MWS |
GTR |
C0268390 |
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occur in this disorder. |
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UDA syndrome |
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html:p |
People with Muckle-Wells syndrome have recurrent "flare-ups" that begin during |
urticaria-deafness-amyloidosis syndrome |
MeSH |
D056587 |
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infancy or early childhood. These episodes may appear to arise spontaneously or |
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be triggered by cold, heat, fatigue, or other stresses. Affected individuals |
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OMIM |
191900 |
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typically develop a non-itchy rash, mild to moderate fever, painful and swollen |
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joints, and in some cases redness in the whites of the eyes (conjunctivitis). |
Orphanet |
575 |
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html:p |
Hearing loss caused by progressive nerve damage (sensorineural deafness) |
db |
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typically becomes apparent during the teenage years. Abnormal deposits of a |
SNOMED CT |
15123008 |
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protein called amyloid (amyloidosis) cause progressive kidney damage in about |
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one-third of people with Muckle-Wells syndrome; these deposits may also damage |
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other organs. In addition, pigmented skin lesions may occur in affected |
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individuals. |
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related-gene-list |
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Mucolipidosis II alpha/beta |
https://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta |
Mucolipidosis II alpha/beta is a rare disorder, although its exact |
html:p |
Mucolipidosis II alpha/beta (also known as I-cell disease) is a progressively |
ar |
autosomal recessive |
GNPTAB |
https://ghr.nlm.nih.gov/gene/GNPTAB |
I-cell disease |
db |
key |
2015-05 |
2017-12-29 |
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黏脂質症二型 |
prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 |
debilitating disorder that affects many parts of the body. Most affected |
inclusion cell disease |
GTR |
C2673377 |
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I-Cell Disease |
individuals worldwide. |
individuals do not survive past early childhood. |
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MLII |
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I-細胞疾病 |
|
html:p |
At birth, children with mucolipidosis II alpha/beta are small and have weak |
mucolipidosis II |
GeneReviews |
ml2 |
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muscle tone (hypotonia) and a weak cry. Affected individuals grow slowly after |
mucolipidosis type II |
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birth and usually stop growing during the second year of life. Development is |
ICD-10-CM |
E77.0 |
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delayed, particularly the development of speech and motor skills such as sitting |
db |
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and standing. |
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MeSH |
D009081 |
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html:p |
Children with mucolipidosis II alpha/beta typically have several bone |
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abnormalities, many of which are present at birth. Affected individuals may have |
OMIM |
252500 |
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an abnormally rounded upper back (kyphosis), feet that are abnormally rotated |
db |
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(clubfeet), dislocated hips, unusually shaped long bones, and short hands and |
Orphanet |
576 |
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fingers. People with this condition also have joint deformities (contractures) |
db |
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that significantly affect mobility. Most children with mucolipidosis II |
|
SNOMED CT |
70199000 |
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alpha/beta do not develop the ability to walk independently. Affected |
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individuals have dysostosis multiplex, which refers to multiple skeletal |
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abnormalities seen on x-ray. |
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html:p |
Other features of mucolipidosis II alpha/beta include a soft out-pouching around |
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the belly-button (umbilical hernia) or lower abdomen (inguinal hernia), heart |
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valve abnormalities, distinctive-looking facial features that are described as |
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"coarse," and overgrowth of the gums (gingival hypertrophy). Vocal cords can |
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stiffen, resulting in a hoarse voice. The airway is narrow, which can contribute |
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to prolonged or recurrent respiratory infections. Affected individuals may also |
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have recurrent ear infections, which can lead to hearing loss. |
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related-gene-list |
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Mucolipidosis III alpha/beta |
https://ghr.nlm.nih.gov/condition/mucolipidosis-iii-alpha-beta |
Mucolipidosis III alpha/beta is a rare disorder, although its exact |
html:p |
Mucolipidosis III alpha/beta is a disorder that affects many parts of the body. |
ar |
autosomal recessive |
GNPTAB |
https://ghr.nlm.nih.gov/gene/GNPTAB |
ML III |
db |
key |
2014-10 |
2017-12-29 |
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黏脂質症三型 |
prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 |
Signs and symptoms of this condition typically appear around age 3 and worsen |
ML IIIA |
GTR |
C0033788 |
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individuals worldwide. |
slowly over time. |
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mucolipidosis III |
db |
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html:p |
Individuals with mucolipidosis III alpha/beta grow slowly and have short |
mucolipidosis III, variant |
GeneReviews |
ml3a |
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stature. They also have stiff joints and dysostosis multiplex, which refers to |
mucolipidosis IIIA |
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multiple skeletal abnormalities seen on x-ray. Many affected individuals develop |
pseudo-Hurler polydystrophy |
ICD-10-CM |
E77.0 |
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low bone mineral density (osteoporosis), which weakens the bones and makes them |
db |
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prone to fracture. Osteoporosis and progressive joint problems also cause bone |
MeSH |
D009081 |
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pain that becomes more severe over time in people with mucolipidosis III |
db |
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alpha/beta. |
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OMIM |
252600 |
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html:p |
People with mucolipidosis III alpha/beta often have heart valve abnormalities |
db |
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and mild clouding of the clear covering of the eye (cornea). Their facial |
|
Orphanet |
577 |
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features become slightly thickened or "coarse" over time. Affected individuals |
db |
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may also develop frequent ear and respiratory infections. About half of people |
SNOMED CT |
65764006 |
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with this condition have mild intellectual disability or learning problems. |
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Individuals with mucolipidosis III alpha/beta generally survive into adulthood, |
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but they may have a shortened lifespan. |
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related-gene-list |
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Mucolipidosis III gamma |
https://ghr.nlm.nih.gov/condition/mucolipidosis-iii-gamma |
Mucolipidosis III gamma is a rare disorder, although its exact prevalence |
html:p |
Mucolipidosis III gamma is a slowly progressive disorder that affects many parts |
ar |
autosomal recessive |
GNPTG |
https://ghr.nlm.nih.gov/gene/GNPTG |
ML IIIC |
db |
key |
2015-05 |
2017-12-29 |
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|
黏脂質症三型 |
is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 |
of the body. Signs and symptoms of this condition typically appear around age |
mucolipidosis III |
GTR |
C1854896 |
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individuals worldwide. |
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mucolipidosis III, variant |
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html:p |
Individuals with mucolipidosis III gamma grow slowly and have short stature. |
mucolipidosis IIIC |
GeneReviews |
ml3c |
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They also have stiff joints and dysostosis multiplex, which refers to multiple |
mucolipidosis type III |
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skeletal abnormalities seen on x-ray. Many affected individuals develop low bone |
pseudo-Hurler polydystrophy |
ICD-10-CM |
E77.0 |
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mineral density (osteoporosis), which weakens the bones and makes them prone to |
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fracture. Osteoporosis and progressive joint problems in people with |
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MeSH |
D009081 |
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mucolipidosis III gamma also cause pain, which becomes more severe over time. |
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html:p |
People with mucolipidosis III gamma often have heart valve abnormalities and |
OMIM |
252605 |
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mild clouding of the clear covering of the eye (cornea). Their facial features |
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become slightly thickened or "coarse" as they get older. A small percentage of |
Orphanet |
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people with this condition have mild intellectual disability or learning |
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problems. Individuals with mucolipidosis III gamma generally survive into |
SNOMED CT |
65764006 |
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adulthood, but they may have a shortened lifespan. |
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related-gene-list |
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Mucolipidosis type IV |
https://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv |
Mucolipidosis type IV is estimated to occur in 1 in 40,000 people. About 70 |
html:p |
Mucolipidosis type IV is an inherited disorder characterized by delayed |
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autosomal recessive |
MCOLN1 |
https://ghr.nlm.nih.gov/gene/MCOLN1 |
ganglioside sialidase deficiency |
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2013-08 |
2017-12-29 |
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percent of affected individuals have Ashkenazi Jewish ancestry. |
development and vision impairment that worsens over time. The severe form of the |
ML4 |
GTR |
C0238286 |
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disorder is called typical mucolipidosis type IV, and the mild form is called |
MLIV |
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atypical mucolipidosis type IV. |
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sialolipidosis |
GeneReviews |
ml4 |
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html:p |
Approximately 95 percent of individuals with this condition have the severe |
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form. People with typical mucolipidosis type IV have delayed development of |
ICD-10-CM |
E75.11 |
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mental and motor skills (psychomotor delay). Motor skills include sitting, |
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standing, walking, grasping objects, and writing. Psychomotor delay is moderate |
MeSH |
D009081 |
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to severe and usually becomes apparent during the first year of life. Affected |
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individuals have intellectual disability, limited or absent speech, difficulty |
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OMIM |
252650 |
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chewing and swallowing, weak muscle tone (hypotonia) that gradually turns into |
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abnormal muscle stiffness (spasticity), and problems controlling hand movements. |
Orphanet |
578 |
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Most people with typical mucolipidosis type IV are unable to walk |
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independently. In about 15 percent of affected individuals, the psychomotor |
SNOMED CT |
111384001 |
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problems worsen over time. |
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html:p |
Vision may be normal at birth in people with typical mucolipidosis type IV, but |
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it becomes increasingly impaired during the first decade of life. Individuals |
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with this condition develop clouding of the clear covering of the eye (cornea) |
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and progressive breakdown of the light-sensitive layer at the back of the eye |
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(retina). By their early teens, affected individuals have severe vision loss or |
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blindness. |
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html:p |
People with typical mucolipidosis type IV also have impaired production of |
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stomach acid (achlorhydria). Achlorhydria does not cause any symptoms in these |
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individuals, but it does result in unusually high levels of gastrin in the |
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blood. Gastrin is a hormone that regulates the production of stomach acid. |
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Individuals with mucolipidosis type IV may not have enough iron in their blood, |
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which can lead to a shortage of red blood cells (anemia). People with the severe |
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form of this disorder usually survive to adulthood; however, they may have a |
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shortened lifespan. |
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html:p |
About 5 percent of affected individuals have atypical mucolipidosis type IV. |
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These individuals usually have mild psychomotor delay and may develop the |
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ability to walk. People with atypical mucolipidosis type IV tend to have milder |
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eye abnormalities than those with the severe form of the disorder. Achlorhydria |
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also may be present in mildly affected individuals. |
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related-gene-list |
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Mucopolysaccharidosis type I |
https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-i |
Severe MPS I occurs in approximately 1 in 100,000 newborns. Attenuated MPS |
html:p |
Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of |
ar |
autosomal recessive |
IDUA |
https://ghr.nlm.nih.gov/gene/IDUA |
Hurler-Scheie syndrome |
db |
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2012-12 |
2017-12-29 |
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黏多醣症一型 |
I is less common and occurs in about 1 in 500,000 newborns. |
the body. This disorder was once divided into three separate syndromes: Hurler |
Hurler syndrome |
GTR |
C0023786 |
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黏多醣儲積症一型 |
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syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS |
IDUA deficiency |
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Hurler syndrome |
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I-S), listed from most to least severe. Because there is so much overlap |
MPS I |
GeneReviews |
mps1 |
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賀勒氏症 |
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between each of these three syndromes, MPS I is currently divided into the |
MPS I H |
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severe and attenuated types. |
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MPS I H-S |
ICD-10-CM |
E76.0 |
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html:p |
Children with MPS I often have no signs or symptoms of the condition at birth, |
MPS I S |
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although some have a soft out-pouching around the belly-button (umbilical |
mucopolysaccharidosis I |
ICD-10-CM |
E76.01 |
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hernia) or lower abdomen (inguinal hernia). People with severe MPS I generally |
Scheie syndrome |
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begin to show other signs and symptoms of the disorder within the first year of |
ICD-10-CM |
E76.02 |
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life, while those with the attenuated form have milder features that develop |
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later in childhood. |
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ICD-10-CM |
E76.03 |
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html:p |
Individuals with MPS I may have a large head (macrocephaly), a buildup of fluid |
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in the brain (hydrocephalus), heart valve abnormalities, distinctive-looking |
MeSH |
D008059 |
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facial features that are described as "coarse," an enlarged liver and spleen |
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(hepatosplenomegaly), and a large tongue (macroglossia). Vocal cords can also |
OMIM |
607014 |
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enlarge, resulting in a deep, hoarse voice. The airway may become narrow in some |
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people with MPS I, causing frequent upper respiratory infections and short |
OMIM |
607015 |
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pauses in breathing during sleep (sleep apnea). |
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html:p |
People with MPS I often develop clouding of the clear covering of the eye |
OMIM |
607016 |
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(cornea), which can cause significant vision loss. Affected individuals may also |
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have hearing loss and recurrent ear infections. |
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Orphanet |
579 |
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html:p |
Some individuals with MPS I have short stature and joint deformities |
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(contractures) that affect mobility. Most people with the severe form of the |
SNOMED CT |
26745009 |
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disorder also have dysostosis multiplex, which refers to multiple skeletal |
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abnormalities seen on x-ray. Carpal tunnel syndrome develops in many children |
SNOMED CT |
73123008 |
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with this disorder and is characterized by numbness, tingling, and weakness in |
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the hand and fingers. Narrowing of the spinal canal (spinal stenosis) in the |
SNOMED CT |
75610003 |
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neck can compress and damage the spinal cord. |
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html:p |
While both forms of MPS I can affect many different organs and tissues, people |
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with severe MPS I experience a decline in intellectual function and a more rapid |
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disease progression. Developmental delay is usually present by age 1, and |
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severely affected individuals eventually lose basic functional skills |
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(developmentally regress). Children with this form of the disorder usually have |
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a shortened lifespan, sometimes living only into late childhood. Individuals |
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with attenuated MPS I typically live into adulthood and may or may not have a |
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shortened lifespan. Some people with the attenuated type have learning |
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disabilities, while others have no intellectual impairments. Heart disease and |
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airway obstruction are major causes of death in people with both types of MPS I. |
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related-gene-list |
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Mucopolysaccharidosis type II |
https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-ii |
MPS II occurs in approximately 1 in 100,000 to 1 in 170,000 males. |
html:p |
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a |
xr |
X-linked recessive |
IDS |
https://ghr.nlm.nih.gov/gene/IDS |
Hunter Syndrome |
db |
key |
2008-12 |
2017-12-29 |
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黏多醣症第二型 |
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condition that affects many different parts of the body and occurs almost |
I2S deficiency |
GTR |
C0026705 |
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Hunter |
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exclusively in males. It is a progressively debilitating disorder; however, the |
Iduronate 2-sulfatase deficiency |
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韓特氏症 |
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rate of progression varies among affected individuals. |
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MPS II |
GeneReviews |
hunter |
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html:p |
At birth, individuals with MPS II do not display any features of the condition. |
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Between ages 2 and 4, they develop full lips, large rounded cheeks, a broad |
ICD-10-CM |
E76.1 |
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nose, and an enlarged tongue (macroglossia). The vocal cords also enlarge, which |
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results in a deep, hoarse voice. Narrowing of the airway causes frequent upper |
MeSH |
D016532 |
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respiratory infections and short pauses in breathing during sleep (sleep apnea). |
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As the disorder progresses, individuals need medical assistance to keep their |
OMIM |
309900 |
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airway open. |
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html:p |
Many other organs and tissues are affected in MPS II. Individuals with this |
Orphanet |
580 |
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disorder often have a large head (macrocephaly), a buildup of fluid in the brain |
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(hydrocephalus), an enlarged liver and spleen (hepatosplenomegaly), and a soft |
SNOMED CT |
5667009 |
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out-pouching around the belly-button (umbilical hernia) or lower abdomen |
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(inguinal hernia). People with MPS II usually have thick skin that is not very |
SNOMED CT |
70737009 |
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stretchy. Some affected individuals also have distinctive white skin growths |
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that look like pebbles. Most people with this disorder develop hearing loss and |
SNOMED CT |
73146005 |
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have recurrent ear infections. Some individuals with MPS II develop problems |
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with the light-sensitive tissue in the back of the eye (retina) and have reduced |
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vision. Carpal tunnel syndrome commonly occurs in children with this disorder |
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and is characterized by numbness, tingling, and weakness in the hand and |
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fingers. Narrowing of the spinal canal (spinal stenosis) in the neck can |
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compress and damage the spinal cord. The heart is also significantly affected by |
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MPS II, and many individuals develop heart valve problems. Heart valve |
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abnormalities can cause the heart to become enlarged (ventricular hypertrophy) |
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and can eventually lead to heart failure. |
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html:p |
Children with MPS II grow steadily until about age 5, and then their growth |
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slows and they develop short stature. Individuals with this condition have joint |
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deformities (contractures) that significantly affect mobility. Most people with |
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MPS II also have dysostosis multiplex, which refers to multiple skeletal |
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abnormalities seen on x-ray. Dysostosis multiplex includes a generalized |
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thickening of most long bones, particularly the ribs. |
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html:p |
There are two types of MPS II, called the severe and mild types. While both |
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types affect many different organs and tissues as described above, people with |
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severe MPS II also experience a decline in intellectual function and a more |
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rapid disease progression. Individuals with the severe form begin to lose basic |
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functional skills (developmentally regress) between the ages of 6 and 8. The |
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life expectancy of these individuals is 10 to 20 years. Individuals with mild |
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MPS II also have a shortened lifespan, but they typically live into adulthood |
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and their intelligence is not affected. Heart disease and airway obstruction are |
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major causes of death in people with both types of MPS II. |
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related-gene-list |
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Mucopolysaccharidosis type III |
https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iii |
MPS III is the most common form of mucopolysaccharidosis; the estimated |
html:p |
Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is |
ar |
autosomal recessive |
GNS |
https://ghr.nlm.nih.gov/gene/GNS |
MPS III |
db |
key |
2017-03 |
2017-12-29 |
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黏多醣症第三型 |
incidence of all four types combined is 1 in 70,000 newborns. MPS IIIA and MPS |
a progressive disorder that primarily affects the brain and spinal cord (central |
related-gene |
gene-symbol |
ghr-page |
mucopolysaccharidosis III |
GTR |
C0086647 |
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Sanfilippo syndrome |
IIIB are much more common than MPS IIIC and MPS IIID. |
nervous system). Other body systems can also be involved. |
HGSNAT |
https://ghr.nlm.nih.gov/gene/HGSNAT |
Sanfilippo syndrome |
db |
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聖菲利柏氏症A型 |
html:p |
People with MPS III generally do not display any features of the condition at |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0086648 |
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birth, but they begin to show signs and symptoms of the disorder during early |
NAGLU |
https://ghr.nlm.nih.gov/gene/NAGLU |
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childhood. Affected children often initially have delayed speech and behavior |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0086649 |
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problems. They may become restless, destructive, anxious, or aggressive, and |
SGSH |
https://ghr.nlm.nih.gov/gene/SGSH |
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some display features of autism spectrum disorder, which is a condition |
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GTR |
C0086650 |
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characterized by difficulty with social interactions and communication. Sleep |
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disturbances are also very common in children with MPS III. This condition |
ICD-10-CM |
E76.22 |
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causes progressive intellectual disability and the loss of previously acquired |
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skills (developmental regression). In later stages of the disorder, people with |
MeSH |
D009084 |
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MPS III may develop seizures and movement disorders. |
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html:p |
The physical features of MPS III are less pronounced than those of other types |
OMIM |
252900 |
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of mucopolysaccharidosis. Individuals with MPS III typically have mildly |
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"coarse" facial features, a large head (macrocephaly), a slightly enlarged liver |
OMIM |
252920 |
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(mild hepatomegaly), and a soft out-pouching around the belly-button (umbilical |
db |
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hernia) or lower abdomen (inguinal hernia). Some people with MPS III have short |
OMIM |
252930 |
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stature, joint stiffness, or mild dysostosis multiplex, which refers to |
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multiple skeletal abnormalities seen on x-ray. Affected individuals often |
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OMIM |
252940 |
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experience chronic diarrhea and recurrent upper respiratory and ear infections. |
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People with MPS III may also have hearing loss and vision problems. |
Orphanet |
581 |
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html:p |
MPS III is divided into types IIIA, IIIB, IIIC, and IIID, which are |
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distinguished by their genetic cause. The different types of MPS III have |
|
SNOMED CT |
15892005 |
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similar signs and symptoms, although the features of MPS IIIA typically appear |
db |
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earlier in life and progress more rapidly. People with MPS III usually live into |
SNOMED CT |
41572006 |
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adolescence or early adulthood. |
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SNOMED CT |
59990008 |
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db |
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SNOMED CT |
75238000 |
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db |
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related-gene-list |
|
SNOMED CT |
88393000 |
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Mucopolysaccharidosis type IV |
https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-iv |
The exact prevalence of MPS IV is unknown, although it is estimated to |
html:p |
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a |
ar |
autosomal recessive |
GALNS |
https://ghr.nlm.nih.gov/gene/GALNS |
Morquio-Brailsford disease |
db |
key |
2010-07 |
2017-12-29 |
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occur in 1 in 200,000 to 300,000 individuals. |
progressive condition that mainly affects the skeleton. The rate at which |
related-gene |
gene-symbol |
ghr-page |
Morquio Disease |
GTR |
C0026707 |
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symptoms worsen varies among affected individuals. |
GLB1 |
https://ghr.nlm.nih.gov/gene/GLB1 |
Morquio Syndrome |
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html:p |
The first signs and symptoms of MPS IV usually become apparent during early |
Morquio's Disease |
GTR |
C0086651 |
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childhood. Affected individuals develop various skeletal abnormalities, |
Morquio's Syndrome |
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including short stature, knock knees, and abnormalities of the ribs, chest, |
MPS IV |
GTR |
C0086652 |
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spine, hips, and wrists. People with MPS IV often have joints that are loose and |
mucopolysaccharidosis (MPS) IV (A, B) |
db |
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very flexible (hypermobile), but they may also have restricted movement in |
ICD-10-CM |
E76.21 |
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certain joints. A characteristic feature of this condition is underdevelopment |
db |
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(hypoplasia) of a peg-like bone in the neck called the odontoid process. The |
ICD-10-CM |
E76.210 |
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odontoid process helps stabilize the spinal bones in the neck (cervical |
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key |
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vertebrae). Odontoid hypoplasia can lead to misalignment of the cervical |
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ICD-10-CM |
E76.211 |
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vertebrae, which may compress and damage the spinal cord, resulting in paralysis |
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or death. |
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ICD-10-CM |
E76.219 |
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html:p |
In people with MPS IV, the clear covering of the eye (cornea) typically becomes |
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cloudy, which can cause vision loss. Some affected individuals have recurrent |
MeSH |
D009085 |
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ear infections and hearing loss. The airway may become narrow in some people |
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with MPS IV, leading to frequent upper respiratory infections and short pauses |
OMIM |
253000 |
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in breathing during sleep (sleep apnea). Other common features of this condition |
db |
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include mildly "coarse" facial features, thin tooth enamel, multiple cavities, |
OMIM |
253010 |
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heart valve abnormalities, a mildly enlarged liver (hepatomegaly), and a soft |
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out-pouching around the belly-button (umbilical hernia) or lower abdomen |
Orphanet |
582 |
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(inguinal hernia). Unlike some other types of mucopolysaccharidosis, MPS IV does |
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not affect intelligence. |
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SNOMED CT |
130197005 |
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html:p |
The life expectancy of individuals with MPS IV depends on the severity of |
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symptoms. Severely affected individuals may survive only until late childhood or |
SNOMED CT |
238044004 |
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adolescence. Those with milder forms of the disorder usually live into |
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adulthood, although their life expectancy may be reduced. Spinal cord |
SNOMED CT |
378007 |
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compression and airway obstruction are major causes of death in people with MPS |
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IV. |
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SNOMED CT |
7259005 |
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黏多醣症第四型患者,自小骨骼發育不正常,比同齡小朋友矮一個頭,手腳不夠力 |
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related-gene-list |
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Mucopolysaccharidosis type VI |
https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vi |
The exact incidence of MPS VI is unknown, although it is estimated to occur |
html:p |
Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, |
ar |
autosomal recessive |
ARSB |
https://ghr.nlm.nih.gov/gene/ARSB |
Arylsulfatase B deficiency |
db |
key |
2010-06 |
2017-12-29 |
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黏多醣症第六型 |
in 1 in 250,000 to 600,000 newborns. |
is a progressive condition that causes many tissues and organs to enlarge and |
Maroteaux-Lamy Syndrome |
GTR |
C0026709 |
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Maroteaux-Lamy syndrome |
become inflamed or scarred. Skeletal abnormalities are also common in this |
MPS VI |
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馬洛托-拉米氏症 |
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condition. The rate at which symptoms worsen varies among affected individuals. |
MPS6 |
MeSH |
D009087 |
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html:p |
People with MPS VI generally do not display any features of the condition at |
Mucopolysaccharidosis 6 |
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birth. They often begin to show signs and symptoms of MPS VI during early |
Mucopolysaccharidosis VI |
OMIM |
253200 |
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childhood. The features of MPS VI include a large head (macrocephaly), a buildup |
Polydystrophic Dwarfism |
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of fluid in the brain (hydrocephalus), distinctive-looking facial features that |
Orphanet |
583 |
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are described as "coarse," and a large tongue (macroglossia). Affected |
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individuals also frequently develop heart valve abnormalities, an enlarged liver |
SNOMED CT |
52677002 |
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and spleen (hepatosplenomegaly), and a soft out-pouching around the |
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belly-button (umbilical hernia) or lower abdomen (inguinal hernia). The airway |
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may become narrow in some people with MPS VI, leading to frequent upper |
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respiratory infections and short pauses in breathing during sleep (sleep apnea). |
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The clear covering of the eye (cornea) typically becomes cloudy, which can |
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cause significant vision loss. People with MPS VI may also have recurrent ear |
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infections and hearing loss. Unlike other types of mucopolysaccharidosis, MPS VI |
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does not affect intelligence. |
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html:p |
MPS VI causes various skeletal abnormalities, including short stature and joint |
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deformities (contractures) that affect mobility. Individuals with this condition |
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may also have dysostosis multiplex, which refers to multiple skeletal |
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abnormalities seen on x-ray. Carpal tunnel syndrome develops in many children |
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with MPS VI and is characterized by numbness, tingling, and weakness in the |
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hands and fingers. People with MPS VI may develop a narrowing of the spinal |
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canal (spinal stenosis) in the neck, which can compress and damage the spinal |
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cord. |
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html:p |
The life expectancy of individuals with MPS VI depends on the severity of |
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symptoms. Without treatment, severely affected individuals may survive only |
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until late childhood or adolescence. Those with milder forms of the disorder |
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usually live into adulthood, although their life expectancy may be reduced. |
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Heart disease and airway obstruction are major causes of death in people with |
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MPS VI. |
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related-gene-list |
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Mucopolysaccharidosis type VII |
https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii |
The exact incidence of MPS VII is unknown, although it is estimated to |
html:p |
Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a |
ar |
autosomal recessive |
GUSB |
https://ghr.nlm.nih.gov/gene/GUSB |
beta-glucuronidase deficiency |
db |
key |
2010-08 |
2017-12-29 |
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occur in 1 in 250,000 newborns. It is one of the rarest types of |
progressive condition that affects most tissues and organs. The severity of MPS |
GUSB deficiency |
GTR |
C0085132 |
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mucopolysaccharidosis. |
VII varies widely among affected individuals. |
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MPS VII |
db |
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html:p |
The most severe cases of MPS VII are characterized by hydrops fetalis, a |
MPS7 |
MeSH |
D016538 |
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condition in which excess fluid builds up in the body before birth. Most babies |
Mucopolysaccharidosis 7 |
db |
key |
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with hydrops fetalis are stillborn or die soon after birth. Other people with |
Mucopolysaccharidosis VII |
OMIM |
253220 |
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MPS VII typically begin to show signs and symptoms of the condition during early |
Sly Syndrome |
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childhood. The features of MPS VII include a large head (macrocephaly), a |
Orphanet |
584 |
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buildup of fluid in the brain (hydrocephalus), distinctive-looking facial |
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features that are described as "coarse," and a large tongue (macroglossia). |
SNOMED CT |
124470009 |
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Affected individuals also frequently develop an enlarged liver and spleen |
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(hepatosplenomegaly), heart valve abnormalities, and a soft out-pouching around |
SNOMED CT |
43916004 |
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the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). The |
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airway may become narrow in some people with MPS VII, leading to frequent upper |
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respiratory infections and short pauses in breathing during sleep (sleep apnea). |
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The clear covering of the eye (cornea) becomes cloudy, which can cause |
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significant vision loss. People with MPS VII may also have recurrent ear |
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infections and hearing loss. Affected individuals may have developmental delay |
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and progressive intellectual disability, although intelligence is unaffected in |
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some people with this condition. |
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html:p |
MPS VII causes various skeletal abnormalities that become more pronounced with |
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age, including short stature and joint deformities (contractures) that affect |
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mobility. Individuals with this condition may also have dysostosis multiplex, |
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which refers to multiple skeletal abnormalities seen on x-ray. Carpal tunnel |
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syndrome develops in many children with MPS VII and is characterized by |
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numbness, tingling, and weakness in the hands and fingers. People with MPS VII |
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may develop a narrowing of the spinal canal (spinal stenosis) in the neck, which |
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can compress and damage the spinal cord. |
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html:p |
The life expectancy of individuals with MPS VII depends on the severity of |
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symptoms. Some affected individuals do not survive infancy, while others may |
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live into adolescence or adulthood. Heart disease and airway obstruction are |
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major causes of death in people with MPS VII. |
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related-gene-list |
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Muenke syndrome |
https://ghr.nlm.nih.gov/condition/muenke-syndrome |
Muenke syndrome occurs in about 1 in 30,000 newborns. This condition |
html:p |
Muenke syndrome is a condition characterized by the premature closure of certain |
ad |
autosomal dominant |
FGFR3 |
https://ghr.nlm.nih.gov/gene/FGFR3 |
FGFR3-associated coronal synostosis |
db |
key |
2006-06 |
2017-12-29 |
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|
Muenke綜合徵 |
accounts for an estimated 8 percent of all cases of craniosynostosis. |
bones of the skull (craniosynostosis) during development, which affects the |
Muenke nonsyndromic coronal craniosynostosis |
GTR |
C1864436 |
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shape of the head and face. |
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html:p |
Many people with this disorder have a premature fusion of skull bones along the |
GeneReviews |
craniosynostosis |
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coronal suture, the growth line which goes over the head from ear to ear. Other |
db |
key |
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parts of the skull may be malformed as well. These changes can result in an |
GeneReviews |
muenke |
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abnormally shaped head, wide-set eyes, and flattened cheekbones. About 5 percent |
db |
key |
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of affected individuals have an enlarged head (macrocephaly). People with |
MeSH |
D003398 |
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Muenke syndrome may also have mild abnormalities of the hands or feet, and |
db |
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hearing loss has been observed in some cases. Most people with this condition |
OMIM |
602849 |
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have normal intellect, but developmental delay and learning disabilities are |
db |
key |
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possible. |
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Orphanet |
53271 |
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html:p |
The signs and symptoms of Muenke syndrome vary among affected people, and some |
db |
key |
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findings overlap with those seen in other craniosynostosis syndromes. Between 6 |
SNOMED CT |
440350001 |
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percent and 7 percent of people with the gene mutation associated with Muenke |
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syndrome do not have any of the characteristic features of the disorder. |
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related-gene-list |
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Müllerian aplasia and hyperandrogenism |
https://ghr.nlm.nih.gov/condition/mullerian-aplasia-and-hyperandrogenism |
Müllerian aplasia and hyperandrogenism is a very rare disorder; it has been |
html:p |
Müllerian aplasia and hyperandrogenism is a condition that affects the |
ad |
autosomal dominant |
WNT4 |
https://ghr.nlm.nih.gov/gene/WNT4 |
Biason-Lauber syndrome |
db |
key |
2014-07 |
2017-12-29 |
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Müllerian發育不全和雄激素過多症 |
identified in only a few individuals worldwide. |
reproductive system in females. This condition is caused by abnormal development |
Mayer-Rokitansky-Küster-Hauser-Biason-Lauber syndrome |
GTR |
C2675014 |
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of the Müllerian ducts, which are structures in the embryo that develop into |
Mayer-Rokitansky-Küster-Hauser-like syndrome |
db |
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the uterus, fallopian tubes, cervix, and the upper part of the vagina. |
Mullerian aplasia and hyperandrogenism |
MeSH |
D058489 |
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Individuals with Müllerian aplasia and hyperandrogenism typically have an |
Müllerian duct failure |
db |
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underdeveloped or absent uterus and may also have abnormalities of other |
WNT4 deficiency |
OMIM |
158330 |
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reproductive organs. Women with this condition have normal female external |
WNT4 Müllerian aplasia |
db |
key |
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genitalia, and they develop breasts and pubic hair normally at puberty; however, |
WNT4 Müllerian aplasia and ovarian dysfunction |
Orphanet |
247768 |
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they do not begin menstruation by age 16 (primary amenorrhea) and will likely |
db |
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never have a menstrual period. Affected women are unable to have children |
SNOMED CT |
699275001 |
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(infertile). |
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html:p |
Women with Müllerian aplasia and hyperandrogenism have higher-than-normal levels |
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of male sex hormones called androgens in their blood (hyperandrogenism), which |
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can cause acne and excessive facial hair (facial hirsutism). Kidney |
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abnormalities may be present in some affected individuals. |
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related-gene-list |
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Multicentric osteolysis, nodulosis, and arthropathy |
https://ghr.nlm.nih.gov/condition/multicentric-osteolysis-nodulosis-and-arthropa |
MONA is rare; its prevalence is unknown. This condition has been reported |
html:p |
Multicentric osteolysis, nodulosis, and arthropathy (MONA) describes a rare |
ar |
autosomal recessive |
MMP2 |
https://ghr.nlm.nih.gov/gene/MMP2 |
Al-Aqeel Sewairi syndrome |
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key |
2013-11 |
2017-12-29 |
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thy |
in multiple populations worldwide. |
inherited disease characterized by a loss of bone tissue (osteolysis), |
hereditary multicentric osteolysis |
GTR |
C1850155 |
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particularly in the hands and feet. MONA includes a condition formerly called |
MONA |
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nodulosis-arthropathy-osteolysis (NAO) syndrome. It may also include a similar |
NAO syndrome |
GTR |
CN239151 |
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disorder called Torg syndrome, although it is unknown whether Torg syndrome is |
nodulosis-arthropathy-osteolysis syndrome |
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actually part of MONA or a separate disorder caused by a mutation in a different |
Torg syndrome |
GeneReviews |
mona |
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gene. |
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Torg-Winchester syndrome |
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html:p |
In most cases of MONA, bone loss begins in the hands and feet, causing pain and |
MeSH |
D010014 |
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limiting movement. Bone abnormalities can later spread to other areas of the |
db |
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body, with joint problems (arthropathy) occurring in the elbows, shoulders, |
OMIM |
259600 |
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knees, hips, and spine. Most people with MONA develop low bone mineral density |
db |
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(osteopenia) and thinning of the bones (osteoporosis) throughout the skeleton. |
Orphanet |
3460 |
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These abnormalities make bones brittle and more prone to fracture. The bone |
db |
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abnormalities also lead to short stature. |
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Orphanet |
85196 |
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html:p |
Many affected individuals develop subcutaneous nodules, which are firm lumps of |
db |
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noncancerous tissue underneath the skin, especially on the soles of the feet. |
SNOMED CT |
254151006 |
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Some affected individuals also have skin abnormalities including patches of |
db |
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dark, thick, and leathery skin. Other features of MONA can include clouding of |
SNOMED CT |
254152004 |
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the clear front covering of the eye (corneal opacity), excess hair growth |
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(hypertrichosis), overgrowth of the gums, heart abnormalities, and distinctive |
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facial features that are described as "coarse." |
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related-gene-list |
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Multiminicore disease |
https://ghr.nlm.nih.gov/condition/multiminicore-disease |
Multiminicore disease is thought to be a rare disorder, although its |
html:p |
Multiminicore disease is a disorder that primarily affects muscles used for |
ar |
autosomal recessive |
RYR1 |
https://ghr.nlm.nih.gov/gene/RYR1 |
Minicore disease |
db |
key |
2007-10 |
2017-12-29 |
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多微小軸空肌病 |
incidence is unknown. |
movement (skeletal muscles). This condition causes muscle weakness and related |
related-gene |
gene-symbol |
ghr-page |
Minicore myopathy |
GTR |
C1843691 |
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health problems that range from mild to life-threatening. |
SELENON |
https://ghr.nlm.nih.gov/gene/SELENON |
MmD |
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html:p |
Researchers have identified at least four forms of multiminicore disease, which |
Multi-minicore disease |
GTR |
C1850674 |
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can be distinguished by their characteristic signs and symptoms. The most |
Multicore disease |
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common form, called the classic form, causes muscle weakness beginning in |
Multicore myopathy |
GTR |
C2673970 |
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infancy or early childhood. This weakness is most noticeable in muscles of the |
Multiminicore myopathy |
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trunk and neck (axial muscles) and is less severe in the arm and leg muscles. |
GTR |
CN221543 |
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Muscle weakness causes affected infants to appear "floppy" (hypotonic) and can |
db |
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delay the development of motor skills such as sitting, standing, and walking. |
GTR |
CN221587 |
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The disease causes muscles of the ribcage and spine to stiffen. When combined |
db |
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with weakness of the muscles needed for breathing, this stiffness leads to |
GeneReviews |
mmd |
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severe or life-threatening respiratory problems. Almost all children with |
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multiminicore disease develop an abnormal curvature of the spine (scoliosis), |
MeSH |
D009135 |
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which appears during childhood and steadily worsens over time. |
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html:p |
Other forms of multiminicore disease have different patterns of signs and |
OMIM |
255320 |
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symptoms. They are less common than the classic form, together accounting for |
db |
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about 25 percent of all cases. The atypical forms of the condition tend to be |
OMIM |
602771 |
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milder and cause few or no problems with breathing. The moderate form with hand |
db |
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involvement causes muscle weakness and looseness of the joints, particularly in |
Orphanet |
598 |
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the arms and hands. Another form of multiminicore disease, known as the |
db |
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antenatal form with arthrogryposis, is characterized by stiff, rigid joints |
|
SNOMED CT |
55133004 |
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throughout the body (arthrogryposis), distinctive facial features, and other |
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birth defects. Paralysis of the eye muscles (external ophthalmoplegia) is a |
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primary feature of another atypical form of multiminicore disease. This form of |
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the condition also causes general muscle weakness and feeding difficulties that |
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appear in the first year of life. |
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html:p |
Many people with multiminicore disease also have an increased risk of a |
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developing a severe reaction to certain drugs used during surgery and other |
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invasive procedures. This reaction is called malignant hyperthermia. Malignant |
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hyperthermia occurs in response to some anesthetic gases, which are used to |
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block the sensation of pain, and with a particular type of muscle relaxant. If |
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given these drugs, people at risk for malignant hyperthermia may experience |
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muscle rigidity, breakdown of muscle fibers (rhabdomyolysis), a high fever, |
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increased acid levels in the blood and other tissues (acidosis), and a rapid |
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heart rate. The complications of malignant hyperthermia can be life-threatening |
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unless they are treated promptly. |
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html:p |
Multiminicore disease gets its name from small, disorganized areas called |
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minicores, which are found in muscle fibers of many affected individuals. These |
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abnormal regions can only be seen under a microscope. Although the presence of |
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minicores can help doctors diagnose multiminicore disease, it is unclear how |
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they are related to muscle weakness and the other features of this condition. |
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Multiple Acyl-CoA Dehydrogenase Deficiency, MADD |
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多發性醯基輔酶A去氫酶缺乏 |
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Multiple carboxylase deficiency |
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多發性羧化酶缺乏症 (多發性生物素輔酶酵素缺乏症) |
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related-gene-list |
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Multiple cutaneous and mucosal venous malformations |
https://ghr.nlm.nih.gov/condition/multiple-cutaneous-and-mucosal-venous-malforma |
VMCM appears to be a rare disorder, although its prevalence is unknown. |
html:p |
Multiple cutaneous and mucosal venous malformations (also known as VMCM) are |
ad |
autosomal dominant |
TEK |
https://ghr.nlm.nih.gov/gene/TEK |
mucocutaneous venous malformations |
db |
key |
2009-08 |
2017-12-29 |
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tions |
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bluish patches (lesions) on the skin (cutaneous) and the mucous membranes, such |
VMCM |
GTR |
C1838437 |
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as the lining of the mouth and nose. These lesions represent areas where the |
VMCM1 |
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underlying veins and other blood vessels did not develop properly (venous |
GeneReviews |
vmcm |
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malformations). The lesions can be painful, especially when they extend from |
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the skin into the muscles and joints, or when a calcium deposit forms within the |
MeSH |
D017445 |
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lesion causing inflammation and swelling. |
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html:p |
Most people with VMCM are born with at least one venous malformation. As |
OMIM |
600195 |
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affected individuals age, the lesions present from birth usually become larger |
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and new lesions often appear. The size, number, and location of venous |
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Orphanet |
2451 |
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malformations vary among affected individuals, even among members of the same |
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family. |
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SNOMED CT |
699301008 |
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related-gene-list |
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Multiple endocrine neoplasia |
https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia |
Multiple endocrine neoplasia type 1 affects about 1 in 30,000 people; |
html:p |
Multiple endocrine neoplasia is a group of disorders that affect the body's |
ad |
autosomal dominant |
CDKN1B |
https://ghr.nlm.nih.gov/gene/CDKN1B |
adenomatosis, familial endocrine |
db |
key |
2017-03 |
2017-12-29 |
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多發性內分泌腫瘤 |
multiple endocrine neoplasia type 2 affects an estimated 1 in 35,000 people. |
network of hormone-producing glands called the endocrine system. Hormones are |
related-gene |
gene-symbol |
ghr-page |
endocrine neoplasia, multiple |
GTR |
C0025267 |
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(Cancer) |
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Among the subtypes of type 2, type 2A is the most common form, followed by FMTC. |
chemical messengers that travel through the bloodstream and regulate the |
MEN1 |
https://ghr.nlm.nih.gov/gene/MEN1 |
familial endocrine adenomatosis |
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Type 2B is relatively uncommon, accounting for about 5 percent of all cases of |
function of cells and tissues throughout the body. Multiple endocrine neoplasia |
related-gene |
gene-symbol |
ghr-page |
MEA |
GTR |
C0025268 |
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type 2. The prevalence of multiple endocrine neoplasia type 4 is unknown, |
typically involves tumors (neoplasia) in at least two endocrine glands; tumors |
RET |
https://ghr.nlm.nih.gov/gene/RET |
MEN |
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although the condition appears to be rare. |
can also develop in other organs and tissues. These growths can be noncancerous |
multiple endocrine adenomatosis |
GTR |
C0025269 |
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(benign) or cancerous (malignant). If the tumors become cancerous, the condition |
multiple endocrine neoplasms |
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can be life-threatening. |
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GTR |
C1833921 |
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html:p |
The major forms of multiple endocrine neoplasia are called type 1, type 2, and |
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type 4. These types are distinguished by the genes involved, the types of |
GTR |
C1970712 |
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hormones made, and the characteristic signs and symptoms. |
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html:p |
Many different types of tumors are associated with multiple endocrine neoplasia. |
GeneReviews |
men1 |
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Type 1 frequently involves tumors of the parathyroid glands, the pituitary |
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gland, and the pancreas. Tumors in these glands can lead to the overproduction |
GeneReviews |
men2 |
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of hormones. The most common sign of multiple endocrine neoplasia type 1 is |
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overactivity of the parathyroid glands (hyperparathyroidism). |
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ICD-10-CM |
E31.2 |
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Hyperparathyroidism disrupts the normal balance of calcium in the blood, which |
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can lead to kidney stones, thinning of bones, nausea and vomiting, high blood |
ICD-10-CM |
E31.20 |
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pressure (hypertension), weakness, and fatigue. |
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html:p |
The most common sign of multiple endocrine neoplasia type 2 is a form of thyroid |
ICD-10-CM |
E31.21 |
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cancer called medullary thyroid carcinoma. Some people with this disorder also |
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develop a pheochromocytoma, which is an adrenal gland tumor that can cause |
ICD-10-CM |
E31.22 |
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dangerously high blood pressure. Multiple endocrine neoplasia type 2 is divided |
db |
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into three subtypes: type 2A, type 2B (formerly called type 3), and familial |
ICD-10-CM |
E31.23 |
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medullary thyroid carcinoma (FMTC). These subtypes differ in their |
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characteristic signs and symptoms and risk of specific tumors; for example, |
ICD-10-CM |
Z15.81 |
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hyperparathyroidism occurs only in type 2A, and medullary thyroid carcinoma is |
db |
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the only feature of FMTC. The signs and symptoms of multiple endocrine neoplasia |
ICD-10-CM |
Z83.41 |
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type 2 are relatively consistent within any one family. |
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db |
key |
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html:p |
Multiple endocrine neoplasia type 4 appears to have signs and symptoms similar |
MeSH |
D009377 |
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to those of type 1, although it is caused by mutations in a different gene. |
|
db |
key |
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Hyperparathyroidism is the most common feature, followed by tumors of the |
OMIM |
131100 |
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pituitary gland, additional endocrine glands, and other organs. |
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db |
key |
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OMIM |
155240 |
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db |
key |
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|
OMIM |
162300 |
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db |
key |
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|
OMIM |
171400 |
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db |
key |
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|
OMIM |
610755 |
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db |
key |
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Orphanet |
652 |
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db |
key |
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Orphanet |
653 |
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db |
key |
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Orphanet |
247698 |
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db |
key |
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Orphanet |
247709 |
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db |
key |
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Orphanet |
276152 |
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db |
key |
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Orphanet |
276161 |
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db |
key |
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SNOMED CT |
30664006 |
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db |
key |
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SNOMED CT |
46724008 |
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db |
key |
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SNOMED CT |
61530001 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
61808009 |
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Multiple epiphyseal dysplasia |
https://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia |
The incidence of dominant multiple epiphyseal dysplasia is estimated to be |
html:p |
Multiple epiphyseal dysplasia is a disorder of cartilage and bone development |
ad |
autosomal dominant |
COL9A1 |
https://ghr.nlm.nih.gov/gene/COL9A1 |
EDM1 |
db |
key |
2014-11 |
2017-12-29 |
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多发性骨骺发育不全症 |
at least 1 in 10,000 newborns. The incidence of recessive multiple epiphyseal |
primarily affecting the ends of the long bones in the arms and legs (epiphyses). |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
EDM2 |
GTR |
C1832998 |
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多發性骨骺發育不全 |
dysplasia is unknown. Both forms of this disorder may actually be more common |
There are two types of multiple epiphyseal dysplasia, which can be |
ar |
autosomal recessive |
COL9A2 |
https://ghr.nlm.nih.gov/gene/COL9A2 |
EDM3 |
db |
key |
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because some people with mild symptoms are never diagnosed. |
distinguished by their pattern of inheritance. Both the dominant and recessive |
related-gene |
gene-symbol |
ghr-page |
EDM4 |
GTR |
C1838280 |
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types have relatively mild signs and symptoms, including joint pain that most |
COL9A3 |
https://ghr.nlm.nih.gov/gene/COL9A3 |
EDM5 |
db |
key |
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commonly affects the hips and knees, early-onset arthritis, and a waddling walk. |
related-gene |
gene-symbol |
ghr-page |
epiphyseal dysplasia, Fairbank type |
GTR |
C1838429 |
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Although some people with multiple epiphyseal dysplasia have mild short stature |
COMP |
https://ghr.nlm.nih.gov/gene/COMP |
epiphyseal dysplasia, multiple, 1 |
db |
key |
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as adults, most are of normal height. The majority of individuals are diagnosed |
related-gene |
gene-symbol |
ghr-page |
epiphyseal dysplasia, multiple, 2 |
GTR |
C1846843 |
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during childhood; however, some mild cases may not be diagnosed until |
MATN3 |
https://ghr.nlm.nih.gov/gene/MATN3 |
epiphyseal dysplasia, multiple, 3 |
db |
key |
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adulthood. |
|
|
related-gene |
gene-symbol |
ghr-page |
epiphyseal dysplasia, multiple, 4 |
GTR |
C1847593 |
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html:p |
Recessive multiple epiphyseal dysplasia is distinguished from the dominant type |
SLC26A2 |
https://ghr.nlm.nih.gov/gene/SLC26A2 |
epiphyseal dysplasia, multiple, 5 |
db |
key |
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by malformations of the hands, feet, and knees and abnormal curvature of the |
epiphyseal dysplasia, Ribbing type |
GTR |
C2675767 |
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spine (scoliosis). About 50 percent of individuals with recessive multiple |
MED |
db |
key |
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epiphyseal dysplasia are born with at least one abnormal feature, including an |
multiple epiphyseal dysplasia, autosomal dominant |
GeneReviews |
edm |
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inward- and upward-turning foot (clubfoot), an opening in the roof of the mouth |
multiple epiphyseal dysplasia, autosomal recessive |
db |
key |
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(cleft palate), an unusual curving of the fingers or toes (clinodactyly), or ear |
rMED |
GeneReviews |
edm-ad |
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swelling. An abnormality of the kneecap called a double-layered patella is also |
db |
key |
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relatively common. |
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MeSH |
D010009 |
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db |
key |
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|
OMIM |
120210 |
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db |
key |
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|
OMIM |
132400 |
|
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db |
key |
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|
OMIM |
226900 |
|
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db |
key |
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OMIM |
600204 |
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db |
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OMIM |
600969 |
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db |
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OMIM |
607078 |
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Orphanet |
251 |
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db |
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SNOMED CT |
313339007 |
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related-gene-list |
|
SNOMED CT |
59708000 |
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Multiple familial trichoepithelioma |
https://ghr.nlm.nih.gov/condition/multiple-familial-trichoepithelioma |
Multiple familial trichoepithelioma is a rare disorder; its prevalence is |
html:p |
Multiple familial trichoepithelioma is a condition involving multiple skin |
ad |
autosomal dominant |
CYLD |
https://ghr.nlm.nih.gov/gene/CYLD |
Brooke-Fordyce trichoepitheliomas |
db |
key |
2012-06 |
2017-12-29 |
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多發家族性毛髮上皮瘤 |
unknown. |
tumors that develop from structures associated with the skin (skin appendages), |
EAC |
GTR |
C1275122 |
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such as hair follicles and sweat glands. People with multiple familial |
epithelioma adenoides cysticum of Brooke |
db |
key |
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trichoepithelioma typically develop large numbers of smooth, round tumors called |
familial multiple trichoepitheliomata |
GTR |
C2677505 |
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trichoepitheliomas, which arise from hair follicles. Trichoepitheliomas are |
hereditary multiple benign cystic epithelioma |
db |
key |
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generally noncancerous (benign) but occasionally develop into a type of skin |
MFT |
MeSH |
D012878 |
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cancer called basal cell carcinoma. |
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db |
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html:p |
Individuals with multiple familial trichoepithelioma occasionally also develop |
OMIM |
601606 |
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other types of tumors, including growths called spiradenomas and cylindromas. |
db |
key |
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Spiradenomas develop in sweat glands. The origin of cylindromas has been |
OMIM |
612099 |
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unclear; while previously thought to derive from sweat glands, they are now |
db |
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generally believed to begin in hair follicles. Affected individuals are also at |
Orphanet |
867 |
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increased risk of developing tumors in tissues other than skin appendages, |
db |
key |
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particularly benign or malignant tumors of the salivary glands. |
|
SNOMED CT |
403825008 |
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html:p |
People with multiple familial trichoepithelioma typically begin developing |
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tumors during childhood or adolescence. The tumors mostly appear on the face, |
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especially in the folds in the skin between the nose and lips (nasolabial folds, |
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sometimes called smile lines), but may also occur on the neck, scalp, or trunk. |
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They may grow larger and increase in number over time. |
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html:p |
In severe cases, the tumors may get in the way of the eyes, ears, nose, or mouth |
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and affect vision, hearing, or other functions. The growths can be disfiguring |
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and may contribute to depression or other psychological problems. For reasons |
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that are unclear, females with multiple familial trichoepithelioma are often |
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more severely affected than males. |
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related-gene-list |
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Multiple mitochondrial dysfunctions syndrome |
https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome |
Multiple mitochondrial dysfunctions syndrome is a rare condition; its |
html:p |
Multiple mitochondrial dysfunctions syndrome is characterized by impairment of |
ar |
autosomal recessive |
BOLA3 |
https://ghr.nlm.nih.gov/gene/BOLA3 |
MMDS |
db |
key |
2015-05 |
2017-12-29 |
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prevalence is unknown. It is one of several conditions classified as |
cellular structures called mitochondria, which are the energy-producing centers |
related-gene |
gene-symbol |
ghr-page |
multiple mitochondrial dysfunction syndrome |
GTR |
C3276432 |
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mitochondrial disorders, which affect an estimated 1 in 5,000 people worldwide. |
of cells. While certain mitochondrial disorders are caused by impairment of a |
NFU1 |
https://ghr.nlm.nih.gov/gene/NFU1 |
db |
key |
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single stage of energy production, individuals with multiple mitochondrial |
|
GTR |
C3280378 |
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dysfunctions syndrome have reduced function of more than one stage. The signs |
db |
key |
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and symptoms of this severe condition begin early in life, and affected |
GTR |
C3809165 |
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individuals usually do not live past infancy. |
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db |
key |
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html:p |
Affected infants typically have severe brain dysfunction (encephalopathy), which |
GeneReviews |
mt-overview |
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can contribute to weak muscle tone (hypotonia), seizures, and delayed |
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db |
key |
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development of mental and movement abilities (psychomotor delay). These infants |
MeSH |
D028361 |
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often have difficulty growing and gaining weight at the expected rate (failure |
db |
key |
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to thrive). Most affected babies have a buildup of a chemical called lactic acid |
OMIM |
605711 |
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in the body (lactic acidosis), which can be life-threatening. They may also |
db |
key |
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have high levels of a molecule called glycine (hyperglycinemia) or elevated |
OMIM |
614299 |
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levels of sugar (hyperglycemia) in the blood. Some babies with multiple |
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db |
key |
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mitochondrial dysfunctions syndrome have high blood pressure in the blood |
OMIM |
615330 |
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vessels that connect to the lungs (pulmonary hypertension) or weakening of the |
db |
key |
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heart muscle (cardiomyopathy). |
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Orphanet |
289573 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
720827002 |
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Multiple myeloma |
https://ghr.nlm.nih.gov/condition/multiple-myeloma |
Multiple myeloma is considered a rare cancer; it accounts for about 10 |
html:p |
Multiple myeloma is a cancer that develops in the bone marrow, the spongy tissue |
n |
not inherited |
BRAF |
https://ghr.nlm.nih.gov/gene/BRAF |
Kahler-Bozzolo disease |
db |
key |
2016-05 |
2017-12-29 |
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多发性骨髓瘤 |
percent of cancers of the blood and blood-forming tissues, and between one and |
found in the center of most bones. The bone marrow produces red blood cells, |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Kahler disease |
GTR |
C0026764 |
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two percent of all cancers. Multiple myeloma occurs in approximately 4 per |
which carry oxygen throughout the body; white blood cells, which form the body's |
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pattern unknown |
CCND1 |
https://ghr.nlm.nih.gov/gene/CCND1 |
Kahler's disease |
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100,000 people per year; there are currently about 100,000 affected individuals |
defenses (immune system); and platelets, which are necessary for blood |
related-gene |
gene-symbol |
ghr-page |
medullary plasmacytoma |
GTR |
CN186214 |
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in the United States. |
clotting. |
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FCRL4 |
https://ghr.nlm.nih.gov/gene/FCRL4 |
myelomatosis |
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html:p |
Multiple myeloma is characterized by abnormalities in plasma cells, a type of |
related-gene |
gene-symbol |
ghr-page |
plasma cell dyscrasia |
ICD-10-CM |
C90.0 |
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white blood cell. These abnormal cells multiply out of control, increasing from |
FGFR3 |
https://ghr.nlm.nih.gov/gene/FGFR3 |
plasma cell myelomas |
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about one percent of cells in the bone marrow to the majority of bone marrow |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
C90.00 |
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cells. The abnormal cells form tumors within the bone, causing bone pain and an |
IRF4 |
https://ghr.nlm.nih.gov/gene/IRF4 |
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increased risk of fractures. If the tumors interfere with nerves near the bones, |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
C90.01 |
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numbness or weakness in the arms or legs can occur. Affected individuals may |
LIG4 |
https://ghr.nlm.nih.gov/gene/LIG4 |
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also experience a loss of bone tissue, particularly in the skull, spine, ribs, |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
C90.02 |
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and pelvis. The deterioration of bone can result in an excess of calcium in the |
MAF |
https://ghr.nlm.nih.gov/gene/MAF |
db |
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blood (hypercalcemia), which can lead to nausea and loss of appetite, excessive |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D009101 |
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thirst, fatigue, muscle weakness, and confusion. |
MUM1 |
https://ghr.nlm.nih.gov/gene/MUM1 |
db |
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html:p |
The abnormal plasma cells in multiple myeloma produce proteins that impair the |
related-chromosome |
name |
ghr-page |
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OMIM |
254500 |
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development of normal blood cells. As a result, affected individuals may have a |
14 |
https://ghr.nlm.nih.gov/chromosome/14 |
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reduced number of red blood cells (anemia), which can cause fatigue, weakness, |
Orphanet |
29073 |
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and unusually pale skin (pallor); a low number of white blood cells |
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(leukopenia), which can result in a weakened immune system and frequent |
SNOMED CT |
109989006 |
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infections such as pneumonia; and a reduced number of platelets |
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(thrombocytopenia), which can lead to abnormal bleeding and bruising. Kidney |
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problems can also occur in this disorder, caused by hypercalcemia or by toxic |
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proteins produced by the abnormal plasma cells. |
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html:p |
People with multiple myeloma typically develop the disorder around age 65. Over |
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time, affected individuals can develop life-threatening complications, but the |
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rate at which this happens varies widely. Some affected individuals are |
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diagnosed incidentally when tests are done for other purposes and do not |
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experience symptoms for years. |
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related-gene-list |
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Multiple pterygium syndrome |
https://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome |
The prevalence of multiple pterygium syndrome is unknown. |
html:p |
Multiple pterygium syndrome is a condition that is evident before birth with |
ar |
autosomal recessive |
CHRNA1 |
https://ghr.nlm.nih.gov/gene/CHRNA1 |
Escobar syndrome |
db |
key |
2011-11 |
2017-12-29 |
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多發性翼狀膜症候群 |
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webbing of the skin (pterygium) at the joints and a lack of muscle movement |
related-gene |
gene-symbol |
ghr-page |
familial pterygium syndrome |
GTR |
C0265261 |
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多蹼翼類症 |
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(akinesia) before birth. Akinesia frequently results in muscle weakness and |
CHRND |
https://ghr.nlm.nih.gov/gene/CHRND |
pterygium syndrome |
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Escobar syndrome |
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joint deformities called contractures that restrict the movement of joints |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1854678 |
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(arthrogryposis). As a result, multiple pterygium syndrome can lead to further |
CHRNG |
https://ghr.nlm.nih.gov/gene/CHRNG |
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problems with movement such as arms and legs that cannot fully extend. |
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D012873 |
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html:p |
The two forms of multiple pterygium syndrome are differentiated by the severity |
RAPSN |
https://ghr.nlm.nih.gov/gene/RAPSN |
db |
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of their symptoms. Multiple pterygium syndrome, Escobar type (sometimes referred |
OMIM |
253290 |
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to as Escobar syndrome) is the milder of the two types. Lethal multiple |
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pterygium syndrome is fatal before birth or very soon after birth. |
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OMIM |
265000 |
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html:p |
In people with multiple pterygium syndrome, Escobar type, the webbing typically |
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affects the skin of the neck, fingers, forearms, inner thighs, and backs of the |
Orphanet |
2990 |
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knee. People with this type may also have arthrogryposis. A side-to-side |
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curvature of the spine (scoliosis) is sometimes seen. Affected individuals may |
Orphanet |
33108 |
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also have respiratory distress at birth due to underdeveloped lungs (lung |
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hypoplasia). People with multiple pterygium syndrome, Escobar type usually have |
SNOMED CT |
205819008 |
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distinctive facial features including droopy eyelids (ptosis), outside corners |
db |
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of the eyes that point downward (downslanting palpebral fissures), skin folds |
SNOMED CT |
60192008 |
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covering the inner corner of the eyes (epicanthal folds), a small jaw, and |
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low-set ears. Males with this condition can have undescended testes |
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SNOMED CT |
80773006 |
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(cryptorchidism). This condition does not worsen after birth, and affected |
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individuals typically do not have muscle weakness later in life. |
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html:p |
Lethal multiple pterygium syndrome has many of the same signs and symptoms as |
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the Escobar type. In addition, affected fetuses may develop a buildup of excess |
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fluid in the body (hydrops fetalis) or a fluid-filled sac typically found on the |
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back of the neck (cystic hygroma). Individuals with this type have severe |
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arthrogryposis. Lethal multiple pterygium syndrome is associated with |
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abnormalities such as underdevelopment (hypoplasia) of the heart, lung, or |
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brain; twisting of the intestines (intestinal malrotation); kidney |
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abnormalities; an opening in the roof of the mouth (a cleft palate); and an |
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unusually small head size (microcephaly). Affected individuals may also develop |
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a hole in the muscle that separates the abdomen from the chest cavity (the |
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diaphragm), a condition called a congenital diaphragmatic hernia. Lethal |
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multiple pterygium syndrome is typically fatal in the second or third trimester |
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of pregnancy. |
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related-gene-list |
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Multiple sclerosis |
https://ghr.nlm.nih.gov/condition/multiple-sclerosis |
An estimated 1.1 to 2.5 million people worldwide have multiple sclerosis. |
html:p |
Multiple sclerosis is a condition characterized by areas of damage (lesions) on |
u |
pattern unknown |
CYP27B1 |
https://ghr.nlm.nih.gov/gene/CYP27B1 |
disseminated sclerosis |
db |
key |
2015-10 |
2017-12-29 |
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多發性硬化症 |
Although the reason is unclear, this condition is more common in regions that |
the brain and spinal cord. These lesions are associated with destruction of the |
related-gene |
gene-symbol |
ghr-page |
MS |
GTR |
CN031763 |
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are farther away from the equator. In Canada, parts of the northern United |
covering that protects nerves and promotes the efficient transmission of nerve |
HLA-DRB1 |
https://ghr.nlm.nih.gov/gene/HLA-DRB1 |
db |
key |
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States, western and northern Europe, Russia, and southeastern Australia, the |
impulses (the myelin sheath) and damage to nerve cells. Multiple sclerosis is |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
G35 |
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condition affects approximately 1 in 2,000 to 2,400 people. It is less common |
considered an autoimmune disorder; autoimmune disorders occur when the immune |
IL2RA |
https://ghr.nlm.nih.gov/gene/IL2RA |
db |
key |
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closer to the equator, such as in Asia, sub-Saharan Africa, and parts of South |
system malfunctions and attacks the body's own tissues and organs, in this case |
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D009103 |
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America, where about 1 in 20,000 people are affected. For unknown reasons, most |
tissues of the nervous system. |
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IL7R |
https://ghr.nlm.nih.gov/gene/IL7R |
db |
key |
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forms of multiple sclerosis affect women twice as often as men; however, women |
html:p |
Multiple sclerosis usually begins in early adulthood, between ages 20 and 40. |
related-gene |
gene-symbol |
ghr-page |
|
Orphanet |
802 |
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and men are equally affected by primary progressive MS. |
The symptoms vary widely, and affected individuals can experience one or more |
TNFRSF1A |
https://ghr.nlm.nih.gov/gene/TNFRSF1A |
db |
key |
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effects of nervous system damage. Multiple sclerosis often causes sensory |
SNOMED CT |
192928003 |
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disturbances in the limbs, including a prickling or tingling sensation |
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key |
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(paresthesia), numbness, pain, and itching. Some people experience Lhermitte |
SNOMED CT |
24700007 |
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sign, which is an electrical shock-like sensation that runs down the back and |
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into the limbs. This sensation usually occurs when the head is bent forward. |
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Problems with muscle control are common in people with multiple sclerosis. |
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Affected individuals may have tremors, muscle stiffness (spasticity), |
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exaggerated reflexes (hyperreflexia), weakness or partial paralysis of the |
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muscles of the limbs, difficulty walking, or poor bladder control. Multiple |
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sclerosis is also associated with vision problems, such as blurred or double |
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vision or partial or complete vision loss. Infections that cause fever can make |
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the symptoms worse. |
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html:p |
There are several forms of multiple sclerosis: relapsing-remitting MS, secondary |
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progressive MS, primary progressive MS, and progressive relapsing MS. The most |
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common is the relapsing-remitting form, which affects approximately 80 percent |
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of people with multiple sclerosis. Individuals with this form of the condition |
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have periods during which they experience symptoms, called clinical attacks, |
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followed by periods without any symptoms (remission). The triggers of clinical |
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attacks and remissions are unknown. After about 10 years, relapsing-remitting MS |
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usually develops into another form of the disorder called secondary progressive |
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MS. In this form, there are no remissions, and symptoms of the condition |
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continually worsen. |
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html:p |
Primary progressive MS is the next most common form, affecting approximately 10 |
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to 20 percent of people with multiple sclerosis. This form is characterized by |
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constant symptoms that worsen over time, with no clinical attacks or remissions. |
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Primary progressive MS typically begins later than the other forms, around age |
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40 |
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html:p |
Progressive relapsing MS is a rare form of multiple sclerosis that initially |
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appears like primary progressive MS, with constant symptoms. However, people |
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with progressive relapsing MS also experience clinical attacks of more severe |
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symptoms. |
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106位本港多發性硬化症患者,發現37.7%每年病發至少1次,19.8%要以輪椅代步。患者接受持續藥物治療,能有效控制病情,過正常生活。李梓強舉例,去年諾貝爾物理學獎得主Michael Kosterlitz與此病戰鬥35年,仍有傑出表現,鼓勵患者正面過生活,向夢想進發。多發性硬化症是一種中樞神經系统疾病,令身體的免疫系统錯誤地攻擊神經纖維外層髓鞘,令髓鞘出現疤痕而「硬化」,神經信號便無法傳遞。患者因大腦、小腦、腦幹、脊髓或視神經受影響,會出現視力受損、短期記憶和判斷力轉差、失禁、肢體無力甚至無法走路等。本港多發性硬化症的發病率為每十萬人口中有6.8人,推算全港約有500人確診,而患者多在20至30歲首次發病,逾70%是女性。 |
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related-gene-list |
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Multiple sulfatase deficiency |
https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency |
Multiple sulfatase deficiency is estimated to occur in 1 per million |
html:p |
Multiple sulfatase deficiency is a condition that mainly affects the brain, |
ar |
autosomal recessive |
SUMF1 |
https://ghr.nlm.nih.gov/gene/SUMF1 |
Austin syndrome |
db |
key |
2014-07 |
2017-12-29 |
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多發性硫酸脂酶缺乏症 |
individuals worldwide. Approximately 50 cases have been reported in the |
skin, and skeleton. Because the signs and symptoms of multiple sulfatase |
juvenile sulfatidosis, Austin type |
GTR |
C0268263 |
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scientific literature. |
deficiency vary widely, researchers have split the condition into three types: |
MSD |
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neonatal, late-infantile, and juvenile. |
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mucosulfatidosis |
MeSH |
D052517 |
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html:p |
The neonatal type is the most severe form, with signs and symptoms appearing |
db |
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soon after birth. Affected individuals have deterioration of tissue in the |
OMIM |
272200 |
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nervous system (leukodystrophy), which can contribute to movement problems, |
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seizures, developmental delay, and slow growth. They also have dry, scaly skin |
Orphanet |
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(ichthyosis) and excess hair growth (hypertrichosis). Skeletal abnormalities can |
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include abnormal side-to-side curvature of the spine (scoliosis), joint |
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SNOMED CT |
54898003 |
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stiffness, and dysostosis multiplex, which refers to a specific pattern of |
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skeletal abnormalities seen on x-ray. Individuals with the neonatal type |
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typically have facial features that can be described as "coarse." Affected |
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individuals may also have hearing loss, heart malformations, and an enlarged |
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liver and spleen (hepatosplenomegaly). Many of the signs and symptoms of |
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neonatal multiple sulfatase deficiency worsen over time. |
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html:p |
The late-infantile type is the most common form of multiple sulfatase |
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deficiency. It is characterized by normal cognitive development in early |
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childhood followed by a progressive loss of mental abilities and movement |
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(psychomotor regression) due to leukodystrophy or other brain abnormalities. |
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Individuals with this form of the condition do not have as many features as |
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those with the neonatal type, but they often have ichthyosis, skeletal |
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abnormalities, and coarse facial features. |
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html:p |
The juvenile type is the rarest form of multiple sulfatase deficiency. Signs and |
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symptoms of the juvenile type appear in mid- to late childhood. Affected |
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individuals have normal early cognitive development but then experience |
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psychomotor regression; however, the regression in the juvenile type usually |
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occurs at a slower rate than in the late-infantile type. Ichthyosis is also |
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common in the juvenile type of multiple sulfatase deficiency. |
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html:p |
Life expectancy is shortened in individuals with all types of multiple sulfatase |
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deficiency. Typically, affected individuals survive only a few years after the |
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signs and symptoms of the condition appear, but life expectancy varies depending |
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on the severity of the condition and how quickly the neurological problems |
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worsen. |
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related-gene-list |
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Multiple system atrophy |
https://ghr.nlm.nih.gov/condition/multiple-system-atrophy |
Multiple system atrophy has a prevalence of 2 to 5 per 100,000 people. |
html:p |
Multiple system atrophy is a progressive brain disorder that affects movement |
u |
pattern unknown |
COQ2 |
https://ghr.nlm.nih.gov/gene/COQ2 |
MSA |
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2016-07 |
2017-12-29 |
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多系统萎缩 |
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and balance and disrupts the function of the autonomic nervous system. The |
related-gene |
gene-symbol |
ghr-page |
OPCA |
GTR |
C0037019 |
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autonomic nervous system controls body functions that are mostly involuntary, |
SNCA |
https://ghr.nlm.nih.gov/gene/SNCA |
progressive autonomic failure with multiple system atrophy |
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such as regulation of blood pressure. The most frequent autonomic symptoms |
SDS |
ICD-10-CM |
G90.3 |
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associated with multiple system atrophy are a sudden drop in blood pressure upon |
Shy-Drager syndrome |
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standing (orthostatic hypotension), urinary difficulties, and erectile |
sporadic olivopontocerebellar atrophy |
MeSH |
D019578 |
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dysfunction in men. |
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html:p |
Researchers have described two major types of multiple system atrophy, which are |
OMIM |
146500 |
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distinguished by their major signs and symptoms at the time of diagnosis. In |
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one type, known as MSA-P, a group of movement abnormalities called parkinsonism |
Orphanet |
102 |
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are predominant. These abnormalities include unusually slow movement |
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(bradykinesia), muscle rigidity, tremors, and an inability to hold the body |
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Orphanet |
227510 |
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upright and balanced (postural instability). The other type of multiple system |
db |
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atrophy, known as MSA-C, is characterized by cerebellar ataxia, which causes |
Orphanet |
98933 |
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problems with coordination and balance. This form of the condition can also |
db |
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include speech difficulties (dysarthria) and problems controlling eye movement. |
SNOMED CT |
16576004 |
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html:p |
Multiple system atrophy usually occurs in older adults; on average, signs and |
db |
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symptoms appear around age 55. The condition worsens with time, and affected |
SNOMED CT |
230297002 |
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individuals survive an average of 10 years after the signs and symptoms first |
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appear. |
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synonym-list |
db-key-list |
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Myasthenia gravis |
https://ghr.nlm.nih.gov/condition/myasthenia-gravis |
Myasthenia gravis affects about 20 per 100,000 people worldwide. The |
html:p |
Myasthenia gravis is a disorder that causes weakness of the skeletal muscles, |
u |
pattern unknown |
|
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key |
2017-12-29 |
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重症肌無力 |
prevalence has been increasing in recent decades, which likely results from |
which are muscles that the body uses for movement. The weakness most often |
db-key |
C0026896 |
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earlier diagnosis and better treatments leading to longer lifespans for affected |
starts in the muscles around the eyes, causing drooping of the eyelids (ptosis) |
key |
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individuals. |
and difficulty coordinating eye movements, which results in blurred or double |
db-key |
C1846838 |
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vision. In a form of the disorder called ocular myasthenia, the weakness remains |
key |
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confined to the eye muscles. In most people with myasthenia gravis, however, |
db-key |
G70.00 |
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additional muscles in the face and neck are affected. Affected individuals may |
key |
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have unusual facial expressions, difficulty holding up the head, speech |
db-key |
G70.01 |
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impairment (dysarthria), and chewing and swallowing problems (dysphagia) that |
key |
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may lead to choking, gagging, or drooling. |
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Other muscles in the body are also affected in some people with myasthenia |
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gravis. The muscles of the arms and legs may be involved, causing affected |
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individuals to have changes in their gait or trouble with lifting objects, |
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rising from a seated position, or climbing stairs. The muscle weakness tends to |
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fluctuate over time; it typically worsens with activity and improves with rest. |
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Weakness of the muscles in the chest wall and the muscle that separates the |
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abdomen from the chest cavity (the diaphragm) can cause breathing problems in |
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some people with myasthenia gravis. About 10 percent of people with this |
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disorder experience a potentially life-threatening complication in which these |
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respiratory muscles weaken to the point that breathing is dangerously impaired, |
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and the affected individual requires ventilation assistance. This respiratory |
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failure, called a myasthenic crisis, may be triggered by stresses such as |
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infections or reactions to medications. |
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html:p |
People can develop myasthenia gravis at any age. For reasons that are unknown, |
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it is most commonly diagnosed in women younger than age 40 and men older than |
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age 60. It is uncommon in children, but some infants born to women with |
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myasthenia gravis show signs and symptoms of the disorder for the first few days |
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or weeks of life. This temporary occurrence of symptoms is called transient |
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neonatal myasthenia gravis. |
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synonym-list |
db-key-list |
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Mycosis fungoides |
https://ghr.nlm.nih.gov/condition/mycosis-fungoides |
Mycosis fungoides occurs in about 1 in 100,000 to 350,000 individuals. It |
html:p |
Mycosis fungoides is the most common form of a type of blood cancer called |
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not inherited |
synonym |
granuloma fungoides |
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2017-12-29 |
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蕈樣肉芽腫病 |
accounts for approximately 70 percent of cutaneous T-cell lymphomas. For unknown |
cutaneous T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white |
code |
memo |
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C0026948 |
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(Blood cancer) |
reasons, mycosis fungoides affects males nearly twice as often as females. In |
blood cells, called T cells, become cancerous; these cancers characteristically |
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pattern unknown |
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the United States, there are an estimated 3.6 cases per million people each |
affect the skin, causing different types of skin lesions. Although the skin is |
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C84.0 |
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year. The condition has been found in regions around the world. |
involved, the skin cells themselves are not cancerous. Mycosis fungoides usually |
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occurs in adults over age 50, although affected children have been identified. |
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C84.00 |
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html:p |
Mycosis fungoides may progress slowly through several stages, although not all |
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people with the condition progress through all stages. Most affected individuals |
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C84.01 |
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initially develop skin lesions called patches, which are flat, scaly, pink or |
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red areas on the skin that can be itchy. Cancerous T cells, which cause the |
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C84.02 |
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formation of patches, are found in these lesions. The skin cells themselves are |
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not cancerous; the skin problems result when cancerous T cells move from the |
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C84.03 |
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blood into the skin. Patches are most commonly found on the lower abdomen, upper |
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thighs, buttocks, and breasts. They can disappear and reappear or remain stable |
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C84.04 |
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over time. In some affected individuals, patches progress to plaques, the next |
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stage of mycosis fungoides. |
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C84.05 |
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html:p |
Plaques are raised lesions that are usually reddish, purplish, or brownish in |
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color and itchy. Plaques commonly occur in the same body regions as patches. |
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C84.06 |
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While some plaques arise from patches, others develop on their own, and an |
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affected person can have both patches and plaques simultaneously. As with |
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C84.07 |
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patches, cancerous T cells are found in plaques. Plaques can remain stable or |
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can develop into tumors. Not everyone with patches or plaques develops tumors. |
db-key |
C84.08 |
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html:p |
The tumors in mycosis fungoides, which are composed of cancerous T cells, are |
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raised nodules that are thicker and deeper than plaques. They can arise from |
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C84.09 |
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patches or plaques or occur on their own. Mycosis fungoides was so named because |
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the tumors can resemble mushrooms, a type of fungus. Common locations for tumor |
db-key |
D009182 |
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development include the upper thighs and groin, breasts, armpits, and the crook |
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of the elbow. Open sores may develop on the tumors, often leading to infection. |
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html:p |
Although rare, the cancerous T cells can spread to other organs, including the |
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lymph nodes, spleen, liver, and lungs. Spread to other organs can occur in any |
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stage of mycosis fungoides but is most common in the tumor stage. In addition, |
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affected individuals have an increased risk of developing another lymphoma or |
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other type of cancer. |
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inheritance-pattern-list |
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MyD88 deficiency |
https://ghr.nlm.nih.gov/condition/myd88-deficiency |
The prevalence of MyD88 deficiency is unknown. At least 24 affected |
html:p |
MyD88 deficiency is an inherited disorder of the immune system (primary |
ar |
autosomal recessive |
gene-symbol |
synonym |
MYD88 deficiency |
db-key |
db |
key |
2015-06 |
2017-12-29 |
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individuals have been described in the medical literature. |
immunodeficiency). This primary immunodeficiency affects the innate immune |
MYD88 |
synonym |
pyogenic bacterial infections due to MyD88 deficiency |
GTR |
C2677092 |
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response, which is the body's early, nonspecific response to foreign invaders |
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db-key |
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(pathogens). MyD88 deficiency leads to abnormally frequent and severe infections |
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MeSH |
D007153 |
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by a subset of bacteria known as pyogenic bacteria. (Infection with pyogenic |
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bacteria causes the production of pus.) However, affected individuals have |
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OMIM |
612260 |
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normal resistance to other common bacteria, viruses, fungi, and parasites. The |
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html:i |
html:i |
bacteria. Most people with this condition have their first bacterial infection |
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Orphanet |
183713 |
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Streptococcus pneumoniae |
Pseudomonas aeruginosa |
before age 2, and the infections can be life-threatening in infancy and |
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childhood. Infections become less frequent by about age 10. |
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SNOMED CT |
718232007 |
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html:p |
Children with MyD88 deficiency develop invasive bacterial infections, which can |
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involve the blood (septicemia), the membrane covering the brain and spinal cord |
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(meningitis), or the joints (leading to inflammation and arthritis). Invasive |
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infections can also cause areas of tissue breakdown and pus production |
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(abscesses) on internal organs. In addition, affected individuals can have |
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localized infections of the ears, nose, or throat. Although fever is a common |
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reaction to bacterial infections, many people with MyD88 deficiency do not at |
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first develop a high fever in response to these infections, even if the |
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infection is severe. |
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inheritance-pattern-list |
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MYH9-related disorder |
https://ghr.nlm.nih.gov/condition/myh9-related-disorder |
The incidence of MYH9-related disorder is unknown. More than 200 affected |
html:p |
MYH9-related disorder is a condition that can have many |
ad |
autosomal dominant |
gene-symbol |
synonym |
autosomal dominant MYH9 spectrum disorders |
db-key |
db |
key |
2011-04 |
2017-12-29 |
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MYH9相关综合征 |
families have been reported in the scientific literature. |
signs and symptoms, including bleeding problems, hearing loss, |
MYH9 |
synonym |
MYH9-related macrothrombocytopenias |
GTR |
CN073381 |
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kidney (renal) disease, and clouding of the lens of the eyes (cataract). |
synonym |
MYH9RD |
db-key |
db |
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html:p |
The bleeding problems in people with MYH9-related disorder are |
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GeneReviews |
myh9 |
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due to thrombocytopenia. Thrombocytopenia is a reduced level of |
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db-key |
db |
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circulating platelets, which are cell fragments that normally assist |
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ICD-10-CM |
D72.0 |
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with blood clotting. People with MYH9-related disorder typically |
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db-key |
db |
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experience easy bruising, and affected women have excessive bleeding |
-related disorder are larger than normal. These enlarged platelets have |
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MeSH |
D013921 |
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during menstruation (menorrhagia). The platelets in people with |
difficulty moving into tiny blood vessels like capillaries. As a result, the |
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MYH9-related disorder are larger than normal. These enlarged platelets have difficulty moving into tiny blood vessels like capillaries. As a result, the platelet level is even lower in these small vessels, further impairing clotting. |
platelet level is even lower in these small vessels, further impairing clotting. |
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OMIM |
153640 |
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html:p |
Some people with MYH9-related disorder develop hearing loss |
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db-key |
db |
key |
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caused by abnormalities of the inner ear (sensorineural hearing loss). |
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OMIM |
153650 |
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Hearing loss may be present from birth or can develop anytime into late adulthood. |
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db-key |
db |
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html:p |
An estimated 30 to 70 percent of people with MYH9-related disorder |
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OMIM |
155100 |
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develop renal disease, usually beginning in early adulthood. The |
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db-key |
db |
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first sign of renal disease in MYH9-related disorder is typically protein |
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OMIM |
600208 |
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or blood in the urine. Renal disease in these individuals particularly |
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db-key |
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affects structures called glomeruli, which are clusters of tiny blood vessels that help filter waste products from the blood. |
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OMIM |
605249 |
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The resulting damage to the kidneys can lead to kidney failure and end-stage renal disease (ESRD). |
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db-key |
db |
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html:p |
Some affected individuals develop cataracts in early adulthood that worsen over |
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Orphanet |
182050 |
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time. |
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db-key |
db |
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html:p |
Not everyone with MYH9-related disorder has all of the major features. All individuals with MYH9-related |
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SNOMED CT |
234484005 |
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disorder have thrombocytopenia and enlarged platelets. Most commonly, affected individuals |
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db-key |
db |
key |
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will also have hearing loss and renal disease. Cataracts are the least common sign of this disorder. |
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SNOMED CT |
234485006 |
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html:p |
MYH9-related disorder was previously thought to be four separate |
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db-key |
db |
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disorders: May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, |
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SNOMED CT |
236422008 |
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and Sebastian syndrome. All of these disorders involved thrombocytopenia |
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and enlarged platelets and were distinguished by some combination of |
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hearing loss, renal disease, and cataracts. When it was discovered |
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that these four conditions all had the same genetic cause, they were combined and renamed MYH9-related disorder. |
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related-gene-list |
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Myhre syndrome |
https://ghr.nlm.nih.gov/condition/myhre-syndrome |
Myhre syndrome is a rare disorder; its prevalence is unknown. At least 60 |
html:p |
Myhre syndrome is a condition involving short stature, characteristic facial |
ad |
autosomal dominant |
SMAD4 |
https://ghr.nlm.nih.gov/gene/SMAD4 |
LAPS syndrome |
db |
key |
2017-06 |
2017-12-29 |
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Myhre综合征 |
cases have been documented in the medical literature. |
features, hearing loss, limited joint mobility, a buildup of scar tissue |
laryngotracheal stenosis, arthropathy, prognathism, and short stature |
GTR |
C0796081 |
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(fibrosis) in the skin and internal organs, and other problems affecting |
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multiple body systems. Affected individuals often have problems with the heart |
GeneReviews |
myhre |
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and blood vessels (cardiovascular system), the lungs and airways (respiratory |
db |
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system), and the skeletal system. The cardiovascular and respiratory problems |
MeSH |
D000015 |
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gradually get worse and can lead to potentially life-threatening complications. |
db |
key |
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Cancer also occasionally occurs in Myhre syndrome. |
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OMIM |
139210 |
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html:p |
People with Myhre syndrome usually have delayed development of language and |
db |
key |
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motor skills such as crawling and walking. Although intelligence can be normal |
Orphanet |
2588 |
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in affected individuals, most have intellectual disability that ranges from mild |
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to moderate. Some people with this disorder have behavioral issues such as |
SNOMED CT |
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features of autism spectrum disorder affecting communication and social |
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interaction. Hearing loss occurs in most people with Myhre syndrome, usually |
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beginning in early childhood and gradually worsening; this hearing loss may not |
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be detected promptly and can contribute to learning and behavioral problems. |
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html:p |
Fibrosis in Myhre syndrome can occur spontaneously or develop following surgery |
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or trauma. Affected individuals typically have stiff, thickened skin; this skin |
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condition may not be noticeable during infancy, but worsens over time. Usually |
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the skin changes first appear on the palms of the hands, the soles of the feet, |
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the back of the elbows, and the front of the knees. Eventually the skin thickens |
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on other parts of the body. As a result of the thicker skin, affected |
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individuals typically have fewer facial creases (wrinkles) than others of their |
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age. Fibrosis can also occur in the cardiovascular system, respiratory system, |
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and gastrointestinal tract, causing dysfunction in these systems. |
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html:p |
Individuals with Myhre syndrome often have problems with the structure of the |
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heart that are present at birth (congenital heart defects). Fibrosis in the |
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cardiovascular system can lead to the development of additional problems such as |
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high blood pressure (hypertension); narrowing (stenosis) of the heart valves or |
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blood vessels; tightening of the pericardium, which is the membrane that |
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surrounds the heart (constrictive pericarditis); or restrictive cardiomyopathy, |
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in which the heart muscle is stiff and cannot fully relax after each |
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contraction. |
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html:p |
In Myhre syndrome, fibrosis of the respiratory tract can lead to narrowing of |
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the windpipe (laryngotracheal stenosis) and the passages leading from the |
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windpipe to the lungs (bronchi), high blood pressure in the vessels that carry |
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blood from the heart to the lungs (the pulmonary arteries), damage to lung |
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tissue (interstitial pulmonary disease), and an impairment of lung expansion |
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(restrictive pulmonary disease). In the gastrointestinal tract, fibrosis can |
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result in narrowing of the lower part of the stomach (pyloric stenosis) or of |
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the upper part of the small intestine (duodenal strictures), or severe |
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constipation. |
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html:p |
Growth is reduced in people with Myhre syndrome, beginning before birth and |
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continuing through adolescence. Affected individuals have a low birth weight and |
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are generally shorter than about 97 percent of their peers throughout life. |
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They have shortened long bones of the arms and legs, and unusually short fingers |
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and toes (brachydactyly). Other skeletal abnormalities associated with this |
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disorder include thickening of the skull bones, flattened bones of the spine |
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(platyspondyly), broad ribs, and underdevelopment of the wing-shaped structures |
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of the pelvis (hypoplastic iliac wings). Affected individuals often have joint |
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problems (arthropathy), including stiffness and limited mobility. |
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html:p |
Typical facial features in people with Myhre syndrome include narrow openings of |
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the eyelids (short palpebral fissures), deeply set eyes, a shortened distance |
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between the nose and upper lip (a short philtrum), a narrow mouth with a thin |
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upper lip, an underdeveloped upper jaw, and a protruding lower jaw |
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(prognathism). Some affected individuals are born with an opening in the roof of |
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the mouth (a cleft palate), a split in the lip (a cleft lip), or both. Vision |
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problems are common in this disorder and can include eyes that do not point in |
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the same direction (strabismus), nearsightedness (myopia), farsightedness |
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(hyperopia), an irregular curvature of the front of the eye (astigmatism), |
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clouding of the lenses (cataracts), or an abnormality of the back of the eye |
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called pseudopapilledema. |
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inheritance-pattern-list |
related-gene-list |
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Myoclonic epilepsy myopathy sensory ataxia |
https://ghr.nlm.nih.gov/condition/myoclonic-epilepsy-myopathy-sensory-ataxia |
The prevalence of myoclonic epilepsy myopathy sensory ataxia is unknown. |
html:p |
Myoclonic epilepsy myopathy sensory ataxia, commonly called MEMSA, is part of a |
ar |
autosomal recessive |
POLG |
synonym |
db-key |
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key |
2011-06 |
2017-12-29 |
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肌陣攣性癲癇肌病感覺性共濟失調 |
The signs and symptoms of MEMSA typically |
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synonym |
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GTR |
C1843852 |
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appear during young adulthood. |
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synonym |
db-key |
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GeneReviews |
alpers |
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db-key |
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MeSH |
D028361 |
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html:p |
The first symptom of MEMSA is usually cerebellar ataxia, which refers to |
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db-key |
db |
key |
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Hartnup disease |
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problems with coordination and balance due to defects in the part of the brain |
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SNOMED CT |
699328003 |
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that is involved in coordinating movement (cerebellum). Recurrent seizures |
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(epilepsy) usually develop later, often in combination with uncontrollable |
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muscle jerks (myoclonus). The seizures usually begin in the right arm and spread |
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to become generalized throughout the body. Additionally, affected individuals |
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may have severe brain dysfunction (encephalopathy) or muscle weakness |
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(myopathy). The myopathy can affect muscles close to the center of the body |
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(proximal), such as the muscles of the hips, thighs, upper arms, or neck, or |
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muscles farther away from the center of the body (distal), such as the muscles |
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of the hands or feet. The myopathy may be especially noticeable during exercise |
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(exercise intolerance). |
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related-gene-list |
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Myoclonic epilepsy with ragged-red fibers |
https://ghr.nlm.nih.gov/condition/myoclonic-epilepsy-with-ragged-red-fibers |
MERRF is a rare condition; its prevalence is unknown. MERRF is part of a |
html:p |
Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects |
m |
mitochondrial |
MT-TF |
https://ghr.nlm.nih.gov/gene/MT-TF |
Fukuhara Disease |
db |
key |
2014-05 |
2017-12-29 |
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myoclonic epilepsy associated with ragged-red fibers, MERRF |
group of conditions known as mitochondrial disorders, which affect an estimated |
many parts of the body, particularly the muscles and nervous system. In most |
related-gene |
gene-symbol |
ghr-page |
MERRF |
GTR |
C0162672 |
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肌抽躍性癲癇合併破碎紅色肌纖維症 |
1 in 5,000 people worldwide. |
cases, the signs and symptoms of this disorder appear during childhood or |
MT-TH |
https://ghr.nlm.nih.gov/gene/MT-TH |
MERRF syndrome |
db |
key |
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肌陣攣性癲癇發作伴破碎紅纖維病變 |
adolescence. The features of MERRF vary widely among affected individuals, even |
related-gene |
gene-symbol |
ghr-page |
myoclonic epilepsy associated with ragged-red fibers |
GeneReviews |
merrf |
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among members of the same family. |
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MT-TK |
https://ghr.nlm.nih.gov/gene/MT-TK |
myoencephalopathy ragged-red fiber disease |
db |
key |
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html:p |
MERRF is characterized by muscle twitches (myoclonus), weakness (myopathy), and |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
E88.42 |
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progressive stiffness (spasticity). When the muscle cells of affected |
MT-TL1 |
https://ghr.nlm.nih.gov/gene/MT-TL1 |
db |
key |
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individuals are stained and viewed under a microscope, these cells usually |
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D017243 |
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appear abnormal. These abnormal muscle cells are called ragged-red fibers. Other |
MT-TP |
https://ghr.nlm.nih.gov/gene/MT-TP |
db |
key |
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features of MERRF include recurrent seizures (epilepsy), difficulty |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
545000 |
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coordinating movements (ataxia), a loss of sensation in the extremities |
MT-TS1 |
https://ghr.nlm.nih.gov/gene/MT-TS1 |
db |
key |
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(peripheral neuropathy), and slow deterioration of intellectual function |
related-gene |
gene-symbol |
ghr-page |
|
Orphanet |
551 |
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(dementia). People with this condition may also develop hearing loss or optic |
MT-TS2 |
https://ghr.nlm.nih.gov/gene/MT-TS2 |
db |
key |
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atrophy, which is the degeneration (atrophy) of nerve cells that carry visual |
related-gene |
gene-symbol |
ghr-page |
|
SNOMED CT |
230426003 |
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information from the eyes to the brain. Affected individuals sometimes have |
MT-TT |
https://ghr.nlm.nih.gov/gene/MT-TT |
db |
key |
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short stature and a form of heart disease known as cardiomyopathy. Less |
related-mitochondrial-dna |
name |
ghr-page |
|
SNOMED CT |
57254004 |
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commonly, people with MERRF develop fatty tumors, called lipomas, just under the |
mitochondrial DNA |
https://ghr.nlm.nih.gov/mitochondrial-dna |
db |
key |
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surface of the skin. |
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SNOMED CT |
68448003 |
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related-gene-list |
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Myoclonus-dystonia |
https://ghr.nlm.nih.gov/condition/myoclonus-dystonia |
The prevalence of myoclonus-dystonia in Europe is estimated to be 1 in |
html:p |
Myoclonus-dystonia is a movement disorder that typically affects the neck, |
ad |
autosomal dominant |
KCTD17 |
https://ghr.nlm.nih.gov/gene/KCTD17 |
dystonia 11 |
db |
key |
2017-10 |
2017-12-29 |
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500,000 individuals. Its prevalence elsewhere in the world is unknown. |
torso, and arms. Individuals with this condition experience quick, involuntary |
related-gene |
gene-symbol |
ghr-page |
DYT11 |
GTR |
C1834570 |
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muscle jerks or twitches (myoclonus). About half of individuals with |
RELN |
https://ghr.nlm.nih.gov/gene/RELN |
myoclonus-dystonia syndrome |
db |
key |
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myoclonus-dystonia develop dystonia, which is involuntary tensing of various |
related-gene |
gene-symbol |
ghr-page |
|
GeneReviews |
myo-dystonia |
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muscles that causes unusual positioning. In myoclonus-dystonia, dystonia often |
SGCE |
https://ghr.nlm.nih.gov/gene/SGCE |
db |
key |
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affects one or both hands, causing writer's cramp, or the neck, causing the head |
MeSH |
D009207 |
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to turn (torticollis). |
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db |
key |
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html:p |
The movement problems usually first appear in childhood or early adolescence |
OMIM |
159900 |
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with the development of myoclonus. In most cases, the movement problems remain |
db |
key |
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stable throughout life. In some adults, myoclonus improves with alcohol |
|
Orphanet |
36899 |
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consumption, which can lead to affected individuals self-medicating and becoming |
db |
key |
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alcohol-dependent. |
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SNOMED CT |
439732004 |
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html:p |
People with myoclonus-dystonia often develop psychological disorders such as |
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depression, anxiety, panic attacks, and obsessive-compulsive disorder (OCD). |
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related-gene-list |
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Myofibrillar myopathy |
https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy |
The prevalence of myofibrillar myopathy is unknown. |
html:p |
Myofibrillar myopathy is part of a group of disorders called muscular |
ad |
autosomal dominant |
BAG3 |
https://ghr.nlm.nih.gov/gene/BAG3 |
myofibrillar myopathies |
db |
key |
2011-01 |
2017-12-29 |
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肌原纤维肌病 |
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dystrophies that affect muscle function and cause weakness. Myofibrillar |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1832370 |
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myopathy primarily affects skeletal muscles, which are muscles that the body |
CRYAB |
https://ghr.nlm.nih.gov/gene/CRYAB |
db |
key |
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uses for movement. In some cases, the heart (cardiac) muscle is also affected. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1836050 |
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html:p |
The signs and symptoms of myofibrillar myopathy vary widely among affected |
DES |
https://ghr.nlm.nih.gov/gene/DES |
db |
key |
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individuals, typically depending on the condition's genetic cause. Most people |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1836155 |
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with this disorder begin to develop muscle weakness (myopathy) in mid-adulthood. |
FLNC |
https://ghr.nlm.nih.gov/gene/FLNC |
db |
key |
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However, features of this condition can appear anytime between infancy and late |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1836607 |
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adulthood. Muscle weakness most often begins in the hands and feet (distal |
LDB3 |
https://ghr.nlm.nih.gov/gene/LDB3 |
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muscles), but some people first experience weakness in the muscles near the |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1837317 |
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center of the body (proximal muscles). Other affected individuals develop muscle |
MYOT |
https://ghr.nlm.nih.gov/gene/MYOT |
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weakness throughout their body. Facial muscle weakness can cause swallowing and |
GTR |
C2678065 |
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speech difficulties. Muscle weakness worsens over time. |
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html:p |
Other signs and symptoms of myofibrillar myopathy can include a weakened heart |
GTR |
C2751831 |
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muscle (cardiomyopathy), muscle pain (myalgia), loss of sensation and weakness |
db |
key |
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in the limbs (peripheral neuropathy), and respiratory failure. Individuals with |
GeneReviews |
mfm |
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this condition may have skeletal problems including joint stiffness |
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key |
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(contractures) and abnormal side-to-side curvature of the spine (scoliosis). |
MeSH |
D020914 |
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Rarely, people with this condition develop clouding of the lens of the eyes |
db |
key |
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(cataracts). |
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OMIM |
601419 |
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db |
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OMIM |
608810 |
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db |
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OMIM |
609200 |
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db |
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OMIM |
609452 |
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db |
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OMIM |
609524 |
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db |
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OMIM |
612954 |
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db |
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Orphanet |
593 |
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db |
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related-gene-list |
|
SNOMED CT |
699269005 |
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Myopathy with deficiency of iron-sulfur cluster assembly enzyme |
https://ghr.nlm.nih.gov/condition/myopathy-with-deficiency-of-iron-sulfur-cluste |
This condition has been reported in several families of northern Swedish |
html:p |
Myopathy with deficiency of iron-sulfur cluster assembly enzyme is an inherited |
ar |
autosomal recessive |
ISCU |
https://ghr.nlm.nih.gov/gene/ISCU |
hereditary myopathy with lactic acidosis |
db |
key |
2009-11 |
2017-12-29 |
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r-assembly-enzyme |
ancestry. |
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disorder that primarily affects muscles used for movement (skeletal muscles). |
HML |
GTR |
C1850718 |
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This condition does not usually affect other types of muscle, such as the heart |
iron-sulfur cluster deficiency myopathy |
db |
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(cardiac) muscle. |
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myoglobinuria due to abnormal glycolysis |
GeneReviews |
myodef-sda |
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html:p |
From early childhood, affected individuals experience extreme fatigue in |
myopathy with deficiency of ISCU |
db |
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response to physical activity (exercise intolerance). Mild exertion results in a |
myopathy with deficiency of succinate dehydrogenase and aconitase |
MeSH |
D009135 |
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rapid heartbeat (tachycardia), shortness of breath, and muscle weakness and |
myopathy with exercise intolerance, Swedish type |
db |
key |
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pain. However, people with this condition typically have normal muscle strength |
OMIM |
255125 |
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when they are at rest. |
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db |
key |
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html:p |
Prolonged or recurrent physical activity causes more severe signs and symptoms, |
Orphanet |
43115 |
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including a breakdown of muscle tissue (rhabdomyolysis). The destruction of |
db |
key |
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muscle tissue releases a protein called myoglobin, which is processed by the |
SNOMED CT |
699268002 |
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kidneys and released in the urine (myoglobinuria). Myoglobin causes the urine to |
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be red or brown. This protein can also damage the kidneys, in some cases |
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leading to life-threatening kidney failure. |
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html:p |
In most affected individuals, the muscle problems associated with this condition |
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do not worsen with time. However, at least two people with a severe variant of |
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this disorder have experienced progressive muscle weakness and wasting starting |
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in childhood. |
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related-gene-list |
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Myosin storage myopathy |
https://ghr.nlm.nih.gov/condition/myosin-storage-myopathy |
Myosin storage myopathy is a rare condition. Its prevalence is unknown. |
html:p |
Myosin storage myopathy is a condition that causes muscle weakness (myopathy) |
ad |
autosomal dominant |
MYH7 |
https://ghr.nlm.nih.gov/gene/MYH7 |
autosomal dominant hyaline body myopathy |
db |
key |
2013-02 |
2017-12-29 |
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that does not worsen or worsens very slowly over time. This condition is |
|
GTR |
C1842160 |
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characterized by the formation of protein clumps, which contain a protein called |
db |
key |
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myosin, within certain muscle fibers. The signs and symptoms of myosin storage |
MeSH |
D009135 |
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myopathy usually become noticeable in childhood, although they can occur later. |
db |
key |
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Because of muscle weakness, affected individuals may start walking later than |
OMIM |
608358 |
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usual and have a waddling gait, trouble climbing stairs, and difficulty lifting |
db |
key |
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the arms above shoulder level. Muscle weakness also causes some affected |
SNOMED CT |
699267007 |
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individuals to have trouble breathing. |
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related-gene-list |
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Myostatin-related muscle hypertrophy |
https://ghr.nlm.nih.gov/condition/myostatin-related-muscle-hypertrophy |
The prevalence of this condition is unknown. |
html:p |
Myostatin-related muscle hypertrophy is a rare condition characterized by |
ad |
autosomal dominant |
MSTN |
https://ghr.nlm.nih.gov/gene/MSTN |
Muscle hypertrophy syndrome |
db |
key |
2008-12 |
2017-12-29 |
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reduced body fat and increased muscle size. Affected individuals have up to |
GTR |
C2931112 |
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twice the usual amount of muscle mass in their bodies. They also tend to have |
db |
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increased muscle strength. Myostatin-related muscle hypertrophy is not known to |
GeneReviews |
mstn |
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cause any medical problems, and affected individuals are intellectually normal. |
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MeSH |
D009135 |
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db |
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OMIM |
601788 |
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db |
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Orphanet |
275534 |
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db |
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related-gene-list |
|
SNOMED CT |
699185005 |
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Myotonia congenita |
https://ghr.nlm.nih.gov/condition/myotonia-congenita |
Myotonia congenita is estimated to affect 1 in 100,000 people worldwide. |
html:p |
Myotonia congenita is a disorder that affects muscles used for movement |
ad |
autosomal dominant |
CLCN1 |
https://ghr.nlm.nih.gov/gene/CLCN1 |
Congenital myotonia |
db |
key |
2007-04 |
2017-12-29 |
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先天性肌強直症 |
This condition is more common in northern Scandinavia, where it occurs in |
(skeletal muscles). Beginning in childhood, people with this condition |
code |
memo |
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GTR |
C0027127 |
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approximately 1 in 10,000 people. |
experience bouts of sustained muscle tensing (myotonia) that prevent muscles |
ar |
autosomal recessive |
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from relaxing normally. Although myotonia can affect any skeletal muscles, |
GTR |
C0751360 |
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including muscles of the face and tongue, it occurs most often in the legs. |
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Myotonia causes muscle stiffness that can interfere with movement. In some |
GTR |
C2936781 |
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people the stiffness is very mild, while in other cases it may be severe enough |
db |
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to interfere with walking, running, and other activities of daily life. These |
|
GeneReviews |
myotonia-c |
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muscle problems are particularly noticeable during movement following a period |
db |
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of rest. Many affected individuals find that repeated movements can temporarily |
ICD-10-CM |
G71.12 |
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alleviate their muscle stiffness, a phenomenon known as the warm-up effect. |
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html:p |
The two major types of myotonia congenita are known as Thomsen disease and |
MeSH |
D009224 |
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Becker disease. These conditions are distinguished by the severity of their |
db |
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symptoms and their patterns of inheritance. Becker disease usually appears later |
OMIM |
160800 |
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in childhood than Thomsen disease and causes more severe muscle stiffness, |
db |
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particularly in males. People with Becker disease often experience temporary |
OMIM |
255700 |
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attacks of muscle weakness, particularly in the arms and hands, brought on by |
db |
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movement after periods of rest. They may also develop mild, permanent muscle |
Orphanet |
614 |
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weakness over time. This muscle weakness is not seen in people with Thomsen |
db |
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disease. |
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SNOMED CT |
20305008 |
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db |
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related-gene-list |
|
SNOMED CT |
57938005 |
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Myotonic dystrophy |
https://ghr.nlm.nih.gov/condition/myotonic-dystrophy |
Myotonic dystrophy affects at least 1 in 8,000 people worldwide. The |
html:p |
Myotonic dystrophy is part of a group of inherited disorders called muscular |
ad |
autosomal dominant |
CNBP |
https://ghr.nlm.nih.gov/gene/CNBP |
dystrophia myotonica |
db |
key |
2010-11 |
2017-12-29 |
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肌強直營養不良症 |
prevalence of the two types of myotonic dystrophy varies among different |
dystrophies. It is the most common form of muscular dystrophy that begins in |
related-gene |
gene-symbol |
ghr-page |
myotonia atrophica |
GTR |
C0027126 |
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geographic and ethnic populations. In most populations, type 1 appears to be |
adulthood. |
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DMPK |
https://ghr.nlm.nih.gov/gene/DMPK |
myotonia dystrophica |
db |
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more common than type 2. However, recent studies suggest that type 2 may be as |
html:p |
Myotonic dystrophy is characterized by progressive muscle wasting and weakness. |
GTR |
C0752354 |
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common as type 1 among people in Germany and Finland. |
People with this disorder often have prolonged muscle contractions (myotonia) |
db |
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and are not able to relax certain muscles after use. For example, a person may |
GeneReviews |
myotonic-d |
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have difficulty releasing their grip on a doorknob or handle. Also, affected |
db |
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people may have slurred speech or temporary locking of their jaw. |
|
GeneReviews |
myotonic-d2 |
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html:p |
Other signs and symptoms of myotonic dystrophy include clouding of the lens of |
db |
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the eye (cataracts) and abnormalities of the electrical signals that control the |
ICD-10-CM |
G71.11 |
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heartbeat (cardiac conduction defects). In affected men, hormonal changes may |
db |
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lead to early balding and an inability to father a child (infertility). The |
|
MeSH |
D009223 |
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features of this disorder often develop during a person's twenties or thirties, |
db |
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although they can occur at any age. The severity of the condition varies widely |
OMIM |
160900 |
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among affected people, even among members of the same family. |
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html:p |
There are two major types of myotonic dystrophy: type 1 and type 2. Their signs |
OMIM |
602668 |
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and symptoms overlap, although type 2 tends to be milder than type 1. The muscle |
db |
key |
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weakness associated with type 1 particularly affects the lower legs, hands, |
Orphanet |
273 |
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neck, and face. Muscle weakness in type 2 primarily involves the muscles of the |
db |
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neck, shoulders, elbows, and hips. The two types of myotonic dystrophy are |
Orphanet |
606 |
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caused by mutations in different genes. |
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db |
key |
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html:p |
A variation of type 1 myotonic dystrophy, called congenital myotonic dystrophy, |
SNOMED CT |
195031006 |
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is apparent at birth. Characteristic features include weak muscle tone |
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db |
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(hypotonia), an inward- and upward-turning foot (clubfoot), breathing problems, |
SNOMED CT |
240104008 |
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delayed development, and intellectual disability. Some of these health problems |
db |
key |
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can be life-threatening. |
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SNOMED CT |
77956009 |
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related-gene-list |
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N-acetylglutamate synthase deficiency |
https://ghr.nlm.nih.gov/condition/n-acetylglutamate-synthase-deficiency |
N-acetylglutamate synthase deficiency is a very rare disorder. Only a few |
html:p |
N-acetylglutamate synthase deficiency is an inherited disorder that causes |
ar |
autosomal recessive |
NAGS |
https://ghr.nlm.nih.gov/gene/NAGS |
hyperammonemia, type III |
db |
key |
2006-10 |
2017-12-29 |
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N-乙酰谷氨酸合成酶缺乏症 |
cases have been reported worldwide, and the overall incidence is unknown. |
ammonia to accumulate in the blood. Ammonia, which is formed when proteins are |
N-acetylglutamate synthetase deficiency |
GTR |
C0268543 |
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(Metabolic) |
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broken down in the body, is toxic if the levels become too high. The nervous |
NAGS deficiency |
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system is especially sensitive to the effects of excess ammonia. |
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GeneReviews |
ucd-overview |
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html:p |
N-acetylglutamate synthase deficiency may become evident in the first few days |
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of life. An infant with this condition may be lacking in energy (lethargic) or |
ICD-10-CM |
E72.29 |
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unwilling to eat, and have a poorly controlled breathing rate or body |
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temperature. Some babies with this disorder may experience seizures or unusual |
MeSH |
D056806 |
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body movements, or go into a coma. Complications of N-acetylglutamate synthase |
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deficiency may include developmental delay and intellectual disability. |
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OMIM |
237310 |
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html:p |
In some affected individuals, signs and symptoms of N-acetylglutamate synthase |
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deficiency are less severe, and do not appear until later in life. Some people |
Orphanet |
927 |
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with this form of the disorder cannot tolerate high-protein foods such as meat. |
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They may experience sudden episodes of ammonia toxicity, resulting in vomiting, |
SNOMED CT |
57119000 |
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lack of coordination, confusion or coma, in response to illness or other stress. |
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related-gene-list |
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Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis |
https://ghr.nlm.nih.gov/condition/naegeli-franceschetti-jadassohn-syndrome-derma |
NFJS/DPR is a rare condition; its prevalence is unknown. Only a few |
html:p |
Naegeli-Franceschetti-Jadassohn syndrome/dermatopathia pigmentosa reticularis |
ad |
autosomal dominant |
KRT14 |
https://ghr.nlm.nih.gov/gene/KRT14 |
DPR |
db |
key |
2013-05 |
2017-12-29 |
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topathia-pigmentosa-reticularis |
affected families have been reported in the medical literature. |
(NFJS/DPR) represents a rare type of ectodermal dysplasia, a group of about 150 |
Franceschetti-Jadassohn syndrome |
GTR |
C0343111 |
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conditions characterized by abnormal development of ectodermal tissues including |
Naegeli-Franceschetti-Jadassohn syndrome |
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the skin, hair, nails, teeth, and sweat glands. NFJS and DPR were originally |
Naegeli syndrome |
GTR |
C0406778 |
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described as separate conditions; however, because they have similar features |
NFJ syndrome |
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and are caused by mutations in the same gene, they are now often considered |
NFJS |
MeSH |
D004476 |
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forms of the same disorder. |
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NFJS/DPR |
db |
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html:p |
Among the most common signs of NFJS/DPR is a net-like pattern of dark brown or |
OMIM |
125595 |
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gray skin coloring, known as reticulate hyperpigmentation. This darker |
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pigmentation is seen most often on the neck, chest, and abdomen, although it can |
OMIM |
161000 |
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also occur in and around the eyes and mouth. Reticulate hyperpigmentation |
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appears in infancy or early childhood. It may fade with age or persist |
Orphanet |
69087 |
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throughout life. |
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html:p |
NFJS/DPR also affects the skin on the hands and feet. The skin on the palms of |
Orphanet |
86920 |
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the hands and soles of the feet often becomes thick, hard, and callused, a |
db |
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condition known as palmoplantar keratoderma. Some affected individuals also have |
SNOMED CT |
239084001 |
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blistering on their palms and soles. Their fingernails and toenails may be |
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malformed, brittle, and either thicker or thinner than usual. Most affected |
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SNOMED CT |
239088003 |
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individuals are missing the patterned ridges on the skin of the hands and feet, |
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called dermatoglyphs, that are the basis for each person's unique fingerprints. |
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html:p |
Additional features of NFJS/DPR can include a reduced ability to sweat |
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汗少/多症 |
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(hypohidrosis) or excess sweating (hyperhidrosis) and dental abnormalities. Some |
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affected individuals also have hair loss (alopecia) on the scalp, eyebrows, and |
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underarms. The alopecia is described as noncicatricial because it does not |
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leave scars (cicatrices). |
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related-gene-list |
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Nager syndrome |
https://ghr.nlm.nih.gov/condition/nager-syndrome |
Nager syndrome is a rare condition. Its prevalence is unknown. More than 75 |
html:p |
Nager syndrome is a rare condition that mainly affects the development of the |
ad |
autosomal dominant |
SF3B4 |
https://ghr.nlm.nih.gov/gene/SF3B4 |
acrofacial dysostosis 1, Nager type |
db |
key |
2017-08 |
2017-12-29 |
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Nager 症候群 |
cases have been reported in the medical literature. |
face, hands, and arms. The severity of this disorder varies among affected |
code |
memo |
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AFD1 |
GTR |
C0265245 |
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individuals. |
ar |
autosomal recessive |
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NAFD |
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html:p |
Children with Nager syndrome are born with underdeveloped cheek bones (malar |
Nager acrofacial dysostosis |
MeSH |
D003394 |
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hypoplasia) and a very small lower jaw (micrognathia). They often have an |
Nager acrofacial dysostosis syndrome |
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opening in the roof of the mouth called a cleft palate. These abnormalities |
preaxial acrofacial dysostosis |
OMIM |
154400 |
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frequently cause feeding problems in infants with Nager syndrome. The airway is |
preaxial mandibulofacial dysostosis |
db |
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usually partially blocked due to the micrognathia, which can lead to |
|
Orphanet |
245 |
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life-threatening breathing problems. |
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db |
key |
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html:p |
People with Nager syndrome often have eyes that slant downward (downslanting |
SNOMED CT |
35520007 |
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palpebral fissures), no eyelashes, and a notch in the lower eyelids called an |
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eyelid coloboma. Many affected individuals have small or unusually formed ears, |
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and about 60 percent have hearing loss caused by defects in the middle ear |
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(conductive hearing loss). Nager syndrome does not affect a person's |
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intelligence, although speech development may be delayed due to hearing |
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impairment. |
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Individuals with Nager syndrome have bone abnormalities in their hands and arms. |
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The most common abnormality is malformed or absent thumbs. Affected individuals |
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may also have fingers that are unusually curved (clinodactyly) or fused |
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together (syndactyly). Their forearms may be shortened due to the partial or |
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complete absence of a bone called the radius. People with Nager syndrome |
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sometimes have difficulty fully extending their elbows. This condition can also |
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cause bone abnormalities in the legs and feet. |
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Less commonly, affected individuals have abnormalities of the heart, kidneys, |
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genitalia, and urinary tract. |
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related-gene-list |
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Nail-patella syndrome |
https://ghr.nlm.nih.gov/condition/nail-patella-syndrome |
The prevalence of nail-patella syndrome is estimated to be 1 in 50,000 |
html:p |
Nail-patella syndrome is characterized by abnormalities of the nails, knees, |
ad |
autosomal dominant |
LMX1B |
https://ghr.nlm.nih.gov/gene/LMX1B |
Fong disease |
db |
key |
2013-04 |
2017-12-29 |
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指(趾)甲髕骨症候群 |
individuals. |
elbows, and pelvis. The features of nail-patella syndrome vary in severity |
hereditary onycho-osteodysplasia |
GTR |
C0027341 |
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between affected individuals, even among members of the same family. |
hereditary osteo-onychodysplasia |
db |
key |
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html:p |
Nail abnormalities are seen in almost all individuals with nail-patella |
Osterreicher syndrome |
GeneReviews |
nail-ps |
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syndrome. The nails may be absent or underdeveloped and discolored, split, |
pelvic horn syndrome |
db |
key |
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ridged, or pitted. The fingernails are more likely to be affected than the |
Turner-Kieser syndrome |
MeSH |
D009261 |
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toenails, and the thumbnails are usually the most severely affected. In many |
db |
key |
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people with this condition, the areas at the base of the nails (lunulae) are |
OMIM |
137750 |
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triangular instead of the usual crescent shape. |
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db |
key |
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html:p |
Individuals with nail-patella syndrome also commonly have skeletal abnormalities |
OMIM |
161200 |
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involving the knees, elbows, and hips. The kneecaps (patellae) are small, |
db |
key |
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irregularly shaped, or absent, and dislocation of the patella is common. Some |
Orphanet |
2614 |
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people with this condition may not be able to fully extend their arms or turn |
db |
key |
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their palms up while keeping their elbows straight. The elbows may also be |
SNOMED CT |
22199006 |
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angled outward (cubitus valgus) or have abnormal webbing. Many individuals with |
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nail-patella syndrome have horn-like outgrowths of the iliac bones of the pelvis |
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(iliac horns). These abnormal projections may be felt through the skin, but |
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they do not cause any symptoms and are usually detected on a pelvic x-ray. Iliac |
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horns are very common in people with nail-patella syndrome and are rarely, if |
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ever, seen in people without this condition. |
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html:p |
Other areas of the body may also be affected in nail-patella syndrome, |
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particularly the eyes and kidneys. Individuals with this condition are at risk |
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of developing increased pressure within the eyes (glaucoma) at an early age. |
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Some people develop kidney disease, which can progress to kidney failure. |
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related-gene-list |
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Nakajo-Nishimura syndrome |
https://ghr.nlm.nih.gov/condition/nakajo-nishimura-syndrome |
Nakajo-Nishimura syndrome appears to be rare and has been described only in |
html:p |
Nakajo-Nishimura syndrome is an inherited condition that affects many parts of |
ar |
autosomal recessive |
PSMB8 |
https://ghr.nlm.nih.gov/gene/PSMB8 |
ALDD |
db |
key |
2013-11 |
2017-12-29 |
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(Autoinflammatory) |
the Japanese population. About 30 cases have been reported in the medical |
the body and has been described only in the Japanese population. Beginning in |
autoinflammation, lipodystrophy, and dermatosis syndrome |
GTR |
C1850568 |
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literature. |
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infancy or early childhood, affected individuals develop red, swollen lumps |
Japanese autoinflammatory syndrome with lipodystrophy |
db |
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(nodular erythema) on the skin that occur most often in cold weather; recurrent |
JASL |
MeSH |
D056660 |
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fevers; and elongated fingers and toes with widened and rounded tips (clubbing). |
Nakajo syndrome |
db |
key |
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html:p |
Later in childhood, affected individuals develop joint pain and joint |
NKJO |
OMIM |
256040 |
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deformities called contractures that limit movement, particularly in the hands, |
db |
key |
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wrists, and elbows. They also experience weakness and wasting of muscles, along |
Orphanet |
2615 |
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with a loss of fatty tissue (lipodystrophy), mainly in the upper body. The |
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combination of muscle and fat loss worsens over time, leading to an extremely |
SNOMED CT |
702449004 |
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thin (emaciated) appearance in the face, chest, and arms. |
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html:p |
Other signs and symptoms of Nakajo-Nishimura syndrome can include an enlarged |
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liver and spleen (hepatosplenomegaly), a shortage of red blood cells (anemia), a |
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reduced amount of blood cell fragments called platelets (thrombocytopenia), and |
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abnormal deposits of calcium (calcification) in an area of the brain called the |
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basal ganglia. Intellectual disability has been reported in some affected |
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individuals. |
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html:p |
The signs and symptoms of Nakajo-Nishimura syndrome overlap with those of two |
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other conditions: one called joint contractures, muscular atrophy, microcytic |
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anemia, and panniculitis-induced lipodystrophy (JMP) syndrome; and the other |
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called chronic atypical neutrophilic dermatosis with lipodystrophy and elevated |
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temperature (CANDLE) syndrome. All three conditions are characterized by skin |
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abnormalities and lipodystrophy. Although they are often considered separate |
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disorders, they are caused by mutations in the same gene, and some researchers |
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believe they may represent different forms of a single condition. |
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Nance-Horan syndrome |
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南斯霍爾症 |
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related-gene-list |
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Narcolepsy |
https://ghr.nlm.nih.gov/condition/narcolepsy |
Narcolepsy affects about 1 in 2,000 people in the United States and Western |
html:p |
Narcolepsy is a chronic sleep disorder that disrupts the normal sleep-wake |
u |
pattern unknown |
CHKB |
https://ghr.nlm.nih.gov/gene/CHKB |
Gelineau syndrome |
db |
key |
2010-12 |
2017-12-29 |
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發作性嗜睡症 |
Europe. However, the disorder is likely underdiagnosed, particularly in people |
cycle. Although this condition can appear at any age, it most often begins in |
related-gene |
gene-symbol |
ghr-page |
narcoleptic syndrome |
GTR |
C1834372 |
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渴睡症 |
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with mild symptoms. Worldwide, narcolepsy appears to be most common in Japan, |
adolescence. |
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CPT1B |
https://ghr.nlm.nih.gov/gene/CPT1B |
db |
key |
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猝睡症 |
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where it affects an estimated 1 in 600 people. |
html:p |
Narcolepsy is characterized by excessive daytime sleepiness. Affected |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1836907 |
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individuals feel tired during the day, and several times a day they may |
HLA-DQA1 |
https://ghr.nlm.nih.gov/gene/HLA-DQA1 |
db |
key |
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experience an overwhelming urge to sleep. "Sleep attacks" can occur at unusual |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1853901 |
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times, such as during a meal or in the middle of a conversation. They last from |
HLA-DQB1 |
https://ghr.nlm.nih.gov/gene/HLA-DQB1 |
db |
key |
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a few seconds to a few minutes and often lead to a longer nap, after which |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2676275 |
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affected individuals wake up feeling refreshed. |
HLA-DRB1 |
https://ghr.nlm.nih.gov/gene/HLA-DRB1 |
db |
key |
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html:p |
Another common feature of narcolepsy is cataplexy, which is a sudden loss of |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2748508 |
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muscle tone in response to strong emotion (such as laughing, surprise, or |
TNF |
https://ghr.nlm.nih.gov/gene/TNF |
db |
key |
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anger). These episodes of muscle weakness can cause an affected person to slump |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
G47.4 |
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over or fall, which occasionally leads to injury. Episodes of cataplexy usually |
TNFRSF1B |
https://ghr.nlm.nih.gov/gene/TNFRSF1B |
db |
key |
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last just a few seconds, and they may occur from several times a day to a few |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
G47.41 |
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times a year. Most people diagnosed with narcolepsy also have cataplexy. |
TRA |
https://ghr.nlm.nih.gov/gene/TRA |
db |
key |
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However, some do not, which has led researchers to distinguish two major forms |
ICD-10-CM |
G47.42 |
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of the condition: narcolepsy with cataplexy and narcolepsy without cataplexy. |
db |
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html:p |
Narcolepsy also affects nighttime sleep. Most affected individuals have trouble |
ICD-10-CM |
G47.411 |
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sleeping for more than a few hours at night. They often experience vivid |
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db |
key |
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hallucinations while falling asleep (hypnogogic hallucinations) or while waking |
ICD-10-CM |
G47.419 |
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up (hypnopompic hallucinations). Affected individuals often have realistic and |
db |
key |
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distressing dreams, and they may act out their dreams by moving excessively or |
ICD-10-CM |
G47.421 |
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talking in their sleep. Many people with narcolepsy also experience sleep |
db |
key |
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paralysis, which is an inability to move or speak for a short period while |
|
ICD-10-CM |
G47.429 |
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falling asleep or awakening. The combination of hallucinations, vivid dreams, |
db |
key |
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and sleep paralysis is often frightening and unpleasant for affected |
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MeSH |
D009290 |
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individuals. |
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db |
key |
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html:p |
Some people with narcolepsy have all of the major features of the disorder, |
OMIM |
161400 |
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while others have only one or two. Most of the signs and symptoms persist |
db |
key |
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throughout life, although episodes of cataplexy may become less frequent with |
OMIM |
605841 |
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age and treatment. |
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db |
key |
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OMIM |
609039 |
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db |
key |
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OMIM |
612417 |
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db |
key |
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OMIM |
612851 |
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db |
key |
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Orphanet |
2073 |
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db |
key |
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Orphanet |
83465 |
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db |
key |
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SNOMED CT |
193042000 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
60380001 |
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Nemaline myopathy |
https://ghr.nlm.nih.gov/condition/nemaline-myopathy |
Nemaline myopathy has an estimated incidence of 1 in 50,000 individuals. |
html:p |
Nemaline myopathy is a disorder that primarily affects skeletal muscles, which |
ad |
autosomal dominant |
ACTA1 |
https://ghr.nlm.nih.gov/gene/ACTA1 |
myopathies, nemaline |
db |
key |
2015-12 |
2017-12-29 |
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線狀體肌肉病變 |
|
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are muscles that the body uses for movement. People with nemaline myopathy have |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
myopathy, nemaline |
GTR |
C0206157 |
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桿狀體肌肉病變 |
|
|
muscle weakness (myopathy) throughout the body, but it is typically most severe |
ar |
autosomal recessive |
CFL2 |
https://ghr.nlm.nih.gov/gene/CFL2 |
nemaline body disease |
db |
key |
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in the muscles of the face; neck; trunk; and other muscles close to the center |
related-gene |
gene-symbol |
ghr-page |
nemaline rod disease |
GTR |
C1834336 |
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of the body (proximal muscles), such as those of the upper arms and legs. This |
KBTBD13 |
https://ghr.nlm.nih.gov/gene/KBTBD13 |
rod body disease |
db |
key |
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weakness can worsen over time. Affected individuals may have feeding and |
related-gene |
gene-symbol |
ghr-page |
rod-body myopathy |
GTR |
C1836447 |
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swallowing difficulties, foot deformities, abnormal curvature of the spine |
KLHL40 |
https://ghr.nlm.nih.gov/gene/KLHL40 |
rod myopathy |
db |
key |
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(scoliosis), and joint deformities (contractures). Most people with nemaline |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1836448 |
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myopathy are able to walk, although some affected children may begin walking |
KLHL41 |
https://ghr.nlm.nih.gov/gene/KLHL41 |
db |
key |
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later than usual. As the condition progresses, some people may require |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1836472 |
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wheelchair assistance. In severe cases, the muscles used for breathing are |
LMOD3 |
https://ghr.nlm.nih.gov/gene/LMOD3 |
db |
key |
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affected and life-threatening breathing difficulties can occur. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1850569 |
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html:p |
Nemaline myopathy is divided into six types. In order of decreasing severity, |
NEB |
https://ghr.nlm.nih.gov/gene/NEB |
db |
key |
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the types are: severe congenital, Amish, intermediate congenital, typical |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1853154 |
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congenital, childhood-onset, and adult-onset. The types are distinguished by the |
TNNT1 |
https://ghr.nlm.nih.gov/gene/TNNT1 |
db |
key |
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age when symptoms first appear and the severity of symptoms; however, there is |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1854380 |
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overlap among the various types. The severe congenital type is the most |
TPM2 |
https://ghr.nlm.nih.gov/gene/TPM2 |
db |
key |
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life-threatening. Most individuals with this type do not survive past early |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3809209 |
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childhood due to respiratory failure. The Amish type solely affects the Old |
TPM3 |
https://ghr.nlm.nih.gov/gene/TPM3 |
db |
key |
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Order Amish population of Pennsylvania and is typically fatal in early |
GTR |
C3810384 |
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childhood. The most common type of nemaline myopathy is the typical congenital |
db |
key |
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type, which is characterized by muscle weakness and feeding problems beginning |
GTR |
C4015360 |
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in infancy. Most of these individuals do not have severe breathing problems and |
db |
key |
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can walk unassisted. People with the childhood-onset type usually develop muscle |
GeneReviews |
nem |
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weakness in adolescence. The adult-onset type is the mildest of all the various |
db |
key |
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types. People with this type usually develop muscle weakness between ages 20 |
ICD-10-CM |
G71.2 |
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and 50. |
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db |
key |
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MeSH |
D017696 |
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db |
key |
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|
OMIM |
161800 |
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db |
key |
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OMIM |
256030 |
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db |
key |
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|
OMIM |
605355 |
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db |
key |
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|
OMIM |
609273 |
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db |
key |
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|
OMIM |
609284 |
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db |
key |
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|
OMIM |
609285 |
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db |
key |
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OMIM |
610687 |
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db |
key |
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OMIM |
615348 |
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db |
key |
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OMIM |
615731 |
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db |
key |
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OMIM |
616165 |
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db |
key |
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Orphanet |
607 |
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db |
key |
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Orphanet |
171430 |
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db |
key |
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Orphanet |
171433 |
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db |
key |
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Orphanet |
171436 |
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db |
key |
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Orphanet |
171439 |
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db |
key |
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Orphanet |
171442 |
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db |
key |
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Orphanet |
207009 |
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Orphanet |
98902 |
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related-gene-list |
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SNOMED CT |
75072002 |
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Neonatal onset multisystem inflammatory disease |
https://ghr.nlm.nih.gov/condition/neonatal-onset-multisystem-inflammatory-disease |
NOMID is a very rare disorder; approximately 100 affected individuals have |
html:p |
Neonatal onset multisystem inflammatory disease (NOMID) is a disorder that |
ad |
autosomal dominant |
NLRP3 |
https://ghr.nlm.nih.gov/gene/NLRP3 |
chronic infantile neurologic, cutaneous, and articular syndrome |
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key |
2008-09 |
2017-12-29 |
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儿发病的多系统炎症性疾病 |
e |
been reported worldwide. |
causes persistent inflammation and tissue damage primarily affecting the nervous |
chronic infantile neurological, cutaneous and articular syndrome |
GTR |
C0409818 |
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system, skin, and joints. Recurrent episodes of mild fever may also occur in |
chronic neurologic, cutaneous, and articular syndrome |
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this disorder. |
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CINCA |
MeSH |
D056587 |
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html:p |
People with NOMID have a skin rash that is usually present from birth. The rash |
CINCA syndrome |
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persists throughout life, although it changes in size and location. |
infantile onset multisystem inflammatory disease |
OMIM |
607115 |
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html:p |
Affected individuals often have headaches, seizures, and vomiting resulting from |
IOMID syndrome |
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chronic meningitis, which is inflammation of the tissue that covers and |
NOMID |
Orphanet |
1451 |
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protects the brain and spinal cord (meninges). Intellectual disability may occur |
Prieur-Griscelli syndrome |
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in some people with this disorder. Hearing and vision problems may result from |
SNOMED CT |
239826001 |
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nerve damage and inflammation in various tissues of the eyes. |
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html:p |
People with NOMID experience joint inflammation, swelling, and cartilage |
SNOMED CT |
430079001 |
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overgrowth, causing characteristic prominent knees and other skeletal |
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abnormalities that worsen over time. Joint deformities called contractures may |
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restrict the movement of certain joints. |
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html:p |
Other features of this disorder include short stature with shortening of the |
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lower legs and forearms, and characteristic facial features such as a prominent |
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forehead and protruding eyes. Abnormal deposits of a protein called amyloid |
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(amyloidosis) may cause progressive kidney damage. |
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related-gene-list |
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Nephrogenic diabetes insipidus, NDI |
https://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus |
The prevalence of nephrogenic diabetes insipidus is unknown, although the |
html:p |
Nephrogenic diabetes insipidus is a disorder of water balance. The body normally |
ad |
autosomal dominant |
AQP2 |
https://ghr.nlm.nih.gov/gene/AQP2 |
ADH-resistant diabetes insipidus |
db |
key |
2010-04 |
2017-12-29 |
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腎性尿崩症 |
condition is thought to be rare. The acquired form occurs more frequently than |
balances fluid intake with the excretion of fluid in urine. However, people |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
congenital nephrogenic diabetes insipidus |
GTR |
C0162283 |
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the hereditary form. |
with nephrogenic diabetes insipidus produce too much urine (polyuria), which |
ar |
autosomal recessive |
AVPR2 |
https://ghr.nlm.nih.gov/gene/AVPR2 |
diabetes insipidus renalis |
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causes them to be excessively thirsty (polydipsia). Affected individuals can |
code |
memo |
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diabetes insipidus, nephrogenic |
GTR |
C1563705 |
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quickly become dehydrated if they do not drink enough water, especially in hot |
xr |
X-linked recessive |
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NDI |
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weather or when they are sick. |
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vasopressin-resistant diabetes insipidus |
GTR |
C1563706 |
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html:p |
Nephrogenic diabetes insipidus can be either acquired or hereditary. The |
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acquired form is brought on by certain drugs and chronic diseases and can occur |
GeneReviews |
ndi |
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at any time during life. The hereditary form is caused by genetic mutations, and |
db |
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its signs and symptoms usually become apparent within the first few months of |
ICD-10-CM |
N25.1 |
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life. |
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html:p |
Infants with hereditary nephrogenic diabetes insipidus may eat poorly and fail |
MeSH |
D018500 |
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to gain weight and grow at the expected rate (failure to thrive). They may also |
db |
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be irritable and experience fevers, diarrhea, and vomiting. Recurrent episodes |
OMIM |
125800 |
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of dehydration can lead to slow growth and delayed development. If the condition |
db |
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is not well-managed, over time it can damage the bladder and kidneys leading to |
OMIM |
304800 |
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pain, infections, and kidney failure. With appropriate treatment, affected |
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individuals usually have few complications and a normal lifespan. |
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Orphanet |
223 |
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html:p |
Nephrogenic diabetes insipidus should not be confused with diabetes mellitus, |
db |
key |
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which is much more common. Diabetes mellitus is characterized by high blood |
SNOMED CT |
111395007 |
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sugar levels resulting from a shortage of the hormone insulin or an |
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insensitivity to this hormone. Although nephrogenic diabetes insipidus and |
SNOMED CT |
61165007 |
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diabetes mellitus have some features in common, they are separate disorders with |
db |
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different causes. |
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SNOMED CT |
81475007 |
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related-gene-list |
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Nephronophthisis |
https://ghr.nlm.nih.gov/condition/nephronophthisis |
Nephronophthisis is found in populations worldwide. It occurs in an |
html:p |
Nephronophthisis is a disorder that affects the kidneys. It is characterized by |
ar |
autosomal recessive |
ANKS6 |
https://ghr.nlm.nih.gov/gene/ANKS6 |
NPH |
db |
key |
2014-09 |
2017-12-29 |
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腎消耗病 |
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estimated 1 in 50,000 newborns in Canada, 1 in 100,000 in Finland, and 1 in |
inflammation and scarring (fibrosis) that impairs kidney function. These |
related-gene |
gene-symbol |
ghr-page |
NPHP |
GTR |
C0687120 |
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922,000 in the United States. Its incidence in other populations is unknown. |
abnormalities lead to increased urine production (polyuria), excessive thirst |
CEP83 |
https://ghr.nlm.nih.gov/gene/CEP83 |
db |
key |
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Nephronophthisis is the most common genetic cause of ESRD in children and young |
(polydipsia), general weakness, and extreme tiredness (fatigue). In addition, |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1847013 |
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adults. |
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affected individuals develop fluid-filled cysts in the kidneys, usually in an |
CEP164 |
https://ghr.nlm.nih.gov/gene/CEP164 |
db |
key |
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area known as the corticomedullary region. Another feature of nephronophthisis |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1855681 |
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is a shortage of red blood cells, a condition known as anemia. |
GLIS2 |
https://ghr.nlm.nih.gov/gene/GLIS2 |
db |
key |
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html:p |
Nephronophthisis eventually leads to end-stage renal disease (ESRD), a |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1858392 |
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life-threatening failure of kidney function that occurs when the kidneys are no |
INVS |
https://ghr.nlm.nih.gov/gene/INVS |
db |
key |
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longer able to filter fluids and waste products from the body effectively. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1865872 |
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Nephronophthisis can be classified by the approximate age at which ESRD begins: |
NEK8 |
https://ghr.nlm.nih.gov/gene/NEK8 |
db |
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around age 1 (infantile), around age 13 (juvenile), and around age 19 |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1969092 |
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(adolescent). |
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NPHP1 |
https://ghr.nlm.nih.gov/gene/NPHP1 |
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key |
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html:p |
About 85 percent of all cases of nephronophthisis are isolated, which means they |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3150796 |
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occur without other signs and symptoms. Some people with nephronophthisis have |
NPHP3 |
https://ghr.nlm.nih.gov/gene/NPHP3 |
db |
key |
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additional features, which can include liver fibrosis, heart abnormalities, or |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3151186 |
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mirror image reversal of the position of one or more organs inside the body |
NPHP4 |
https://ghr.nlm.nih.gov/gene/NPHP4 |
db |
key |
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(situs inversus). |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C3151188 |
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html:p |
Nephronophthisis can occur as part of separate syndromes that affect other areas |
TMEM67 |
https://ghr.nlm.nih.gov/gene/TMEM67 |
db |
key |
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of the body; these are often referred to as nephronophthisis-associated |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3539071 |
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ciliopathies. For example, Senior-Løken syndrome is characterized by the |
TTC21B |
https://ghr.nlm.nih.gov/gene/TTC21B |
db |
key |
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combination of nephronophthisis and a breakdown of the light-sensitive tissue at |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3541853 |
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the back of the eye (retinal degeneration); Joubert syndrome affects many parts |
WDR19 |
https://ghr.nlm.nih.gov/gene/WDR19 |
db |
key |
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of the body, causing neurological problems and other features, which can |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3809320 |
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include nephronophthisis. |
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ZNF423 |
https://ghr.nlm.nih.gov/gene/ZNF423 |
db |
key |
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GTR |
C3890591 |
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db |
key |
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GeneReviews |
nephron-ov |
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db |
key |
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MeSH |
D052177 |
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db |
key |
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OMIM |
256100 |
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db |
key |
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OMIM |
602088 |
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db |
key |
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OMIM |
604387 |
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db |
key |
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OMIM |
606966 |
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db |
key |
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OMIM |
611498 |
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db |
key |
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OMIM |
613550 |
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db |
key |
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OMIM |
613820 |
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db |
key |
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OMIM |
613824 |
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db |
key |
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OMIM |
614377 |
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db |
key |
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OMIM |
614844 |
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db |
key |
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OMIM |
614845 |
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db |
key |
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OMIM |
615382 |
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db |
key |
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OMIM |
615862 |
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db |
key |
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Orphanet |
655 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
204958008 |
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Netherton syndrome |
https://ghr.nlm.nih.gov/condition/netherton-syndrome |
Netherton syndrome is estimated to affect 1 in 200,000 newborns. |
html:p |
Netherton syndrome is a disorder that affects the skin, hair, and immune system. |
ar |
autosomal recessive |
SPINK5 |
https://ghr.nlm.nih.gov/gene/SPINK5 |
bamboo hair syndrome |
db |
key |
2014-03 |
2017-12-29 |
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|
Netherton综合征 |
|
Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform |
Comel-Netherton syndrome |
GTR |
C0265962 |
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Netherton 症候群 |
|
erythroderma), and the skin may leak fluid. Some affected infants are born with |
ichthyosiform erythroderma with hypotrichosis and hyper-IgE |
db |
key |
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魚鱗樣紅皮病─竹髮─遺傳過敏綜合症 |
a tight, clear sheath covering their skin called a collodion membrane. This |
ichthyosis linearis circumflexa |
MeSH |
D056770 |
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membrane is usually shed during the first few weeks of life. Because newborns |
ILC |
db |
key |
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with this disorder are missing the protection provided by normal skin, they are |
NETH |
OMIM |
256500 |
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at risk of becoming dehydrated and developing infections in the skin or |
Netherton disease |
db |
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throughout the body (sepsis), which can be life-threatening. Affected babies may |
NS |
Orphanet |
634 |
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also fail to grow and gain weight at the expected rate (failure to thrive). The |
db |
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health of older children and adults with Netherton syndrome usually improves, |
SNOMED CT |
312514006 |
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although they often remain underweight and of short stature. |
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html:p |
After infancy, the severity of the skin abnormalities varies among people with |
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Netherton syndrome and can fluctuate over time. The skin may continue to be red |
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and scaly, especially during the first few years of life. Some affected |
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individuals have intermittent redness or experience outbreaks of a distinctive |
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skin abnormality called ichthyosis linearis circumflexa, involving patches of |
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multiple ring-like lesions. The triggers for the outbreaks are not known, but |
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researchers suggest that stress or infections may be involved. |
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html:p |
Itchiness is a common problem for affected individuals, and scratching can lead |
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to frequent infections. Dead skin cells are shed at an abnormal rate and often |
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accumulate in the ear canals, which can affect hearing if not removed regularly. |
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The skin is abnormally absorbent of substances such as lotions and ointments, |
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which can result in excessive blood levels of some topical medications. Because |
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the ability of the skin to protect against heat and cold is impaired, affected |
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individuals may have difficulty regulating their body temperature. |
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html:p |
People with Netherton syndrome have hair that is fragile and breaks easily. Some |
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strands of hair vary in diameter, with thicker and thinner spots. This feature |
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is known as bamboo hair, trichorrhexis nodosa, or trichorrhexis invaginata. In |
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addition to the hair on the scalp, the eyelashes and eyebrows may be affected. |
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The hair abnormality in Netherton syndrome may not be noticed in infancy because |
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babies often have sparse hair. |
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html:p |
Most people with Netherton syndrome have immune system-related problems such as |
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food allergies, hay fever, asthma, or an inflammatory skin disorder called |
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eczema. |
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related-gene-list |
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Neuroblastoma |
https://ghr.nlm.nih.gov/condition/neuroblastoma |
Neuroblastoma is the most common cancer in infants younger than 1 year. It |
html:p |
Neuroblastoma is a type of cancer that most often affects children. |
ad |
autosomal dominant |
ALK |
https://ghr.nlm.nih.gov/gene/ALK |
NB |
db |
key |
2011-03 |
2017-12-29 |
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神經母細胞瘤 |
occurs in 1 in 100,000 children and is diagnosed in about 650 children each year |
Neuroblastoma occurs when immature nerve cells called neuroblasts become |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0027819 |
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(Cancer) |
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in the United States. |
abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor |
n |
not inherited |
BARD1 |
https://ghr.nlm.nih.gov/gene/BARD1 |
db |
key |
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originates in the nerve tissue of the adrenal gland located above each kidney. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2751681 |
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Other common sites for tumors to form include the nerve tissue in the abdomen, |
ERBB2 |
https://ghr.nlm.nih.gov/gene/ERBB2 |
db |
key |
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chest, neck, or pelvis. Neuroblastoma can spread (metastasize) to other parts of |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2751682 |
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the body such as the bones, liver, or skin. |
KIF1B |
https://ghr.nlm.nih.gov/gene/KIF1B |
db |
key |
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html:p |
Individuals with neuroblastoma may develop general signs and symptoms such as |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
alk-nbs |
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irritability, fever, tiredness (fatigue), pain, loss of appetite, weight loss, |
LMO1 |
https://ghr.nlm.nih.gov/gene/LMO1 |
db |
key |
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or diarrhea. More specific signs and symptoms depend on the location of the |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D009447 |
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tumor and where it has spread. A tumor in the abdomen can cause abdominal |
MYCN |
https://ghr.nlm.nih.gov/gene/MYCN |
db |
key |
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swelling. A tumor in the chest may lead to difficulty breathing. A tumor in the |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
256700 |
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neck can cause nerve damage known as Horner syndrome, which leads to drooping |
PHOX2B |
https://ghr.nlm.nih.gov/gene/PHOX2B |
db |
key |
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eyelids, small pupils, decreased sweating, and red skin. Tumor metastasis to the |
related-chromosome |
name |
ghr-page |
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OMIM |
613013 |
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bone can cause bone pain, bruises, pale skin, or dark circles around the eyes. |
1 |
https://ghr.nlm.nih.gov/chromosome/1 |
db |
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Tumors in the backbone can press on the spinal cord and cause weakness, |
related-chromosome |
name |
ghr-page |
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OMIM |
613014 |
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numbness, or paralysis in the arms or legs. A rash of bluish or purplish bumps |
11 |
https://ghr.nlm.nih.gov/chromosome/11 |
db |
key |
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that look like blueberries indicates that the neuroblastoma has spread to the |
Orphanet |
635 |
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skin. |
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db |
key |
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html:p |
In addition, neuroblastoma tumors can release hormones that may cause other |
SNOMED CT |
432328008 |
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signs and symptoms such as high blood pressure, rapid heartbeat, flushing of the |
db |
key |
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skin, and sweating. In rare instances, individuals with neuroblastoma may |
SNOMED CT |
87364003 |
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develop opsoclonus myoclonus syndrome, which causes rapid eye movements and |
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jerky muscle motions. This condition occurs when the immune system malfunctions |
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and attacks nerve tissue. |
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html:p |
Neuroblastoma occurs most often in children before age 5 and rarely occurs in |
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adults. |
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related-gene-list |
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Neuroferritinopathy |
https://ghr.nlm.nih.gov/condition/neuroferritinopathy |
The prevalence of neuroferritinopathy is unknown. Fewer than 100 |
html:p |
Neuroferritinopathy is a disorder in which iron gradually accumulates in the |
ad |
autosomal dominant |
FTL |
https://ghr.nlm.nih.gov/gene/FTL |
basal ganglia disease, adult-onset |
db |
key |
2014-08 |
2017-12-29 |
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individuals with this disorder have been reported. |
brain. Certain brain regions that help control movement (basal ganglia) are |
ferritin-related neurodegeneration |
GTR |
C1853578 |
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particularly affected. People with neuroferritinopathy have progressive problems |
hereditary ferritinopathy |
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with movement that begin at about age 40. These movement problems can include |
NBIA3 |
GeneReviews |
neuroferritin |
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involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty |
neurodegeneration with brain iron accumulation 3 |
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coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). |
MeSH |
D001796 |
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Symptoms of the disorder may be more apparent on one side of the body than on |
db |
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the other. Affected individuals may also have difficulty swallowing (dysphagia) |
OMIM |
606159 |
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and speaking (dysarthria). |
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html:p |
Intelligence is unaffected in most people with neuroferritinopathy, but some |
Orphanet |
385 |
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individuals develop a gradual decline in thinking and reasoning abilities |
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(dementia). Personality changes such as reduced inhibitions and difficulty |
SNOMED CT |
699299001 |
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controlling emotions may also occur as the disorder progresses. |
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related-gene-list |
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Neurofibromatosis type 1, NF 1 |
https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1 |
Neurofibromatosis type 1 occurs in 1 in 3,000 to 4,000 people worldwide. |
html:p |
Neurofibromatosis type 1 is a condition characterized by changes in skin |
ad |
autosomal dominant |
NF1 |
https://ghr.nlm.nih.gov/gene/NF1 |
Neurofibromatosis 1 |
db |
key |
2012-07 |
2017-12-29 |
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神經性纖維瘤第一型 |
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coloring (pigmentation) and the growth of tumors along nerves in the skin, |
NF1 |
GTR |
C0027831 |
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brain, and other parts of the body. The signs and symptoms of this condition |
Peripheral Neurofibromatosis |
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vary widely among affected people. |
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Recklinghausen Disease, Nerve |
GeneReviews |
nf1 |
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html:p |
Beginning in early childhood, almost all people with neurofibromatosis type 1 |
von Recklinghausen Disease |
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have multiple café-au-lait spots, which are flat patches on the skin that are |
ICD-10-CM |
Q85.0 |
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darker than the surrounding area. These spots increase in size and number as the |
db |
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individual grows older. Freckles in the underarms and groin typically develop |
ICD-10-CM |
Q85.00 |
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later in childhood. |
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html:p |
Most adults with neurofibromatosis type 1 develop neurofibromas, which are |
ICD-10-CM |
Q85.01 |
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noncancerous (benign) tumors that are usually located on or just under the skin. |
db |
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These tumors may also occur in nerves near the spinal cord or along nerves |
MeSH |
D009456 |
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elsewhere in the body. Some people with neurofibromatosis type 1 develop |
db |
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cancerous tumors that grow along nerves. These tumors, which usually develop in |
OMIM |
162200 |
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adolescence or adulthood, are called malignant peripheral nerve sheath tumors. |
db |
key |
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People with neurofibromatosis type 1 also have an increased risk of developing |
Orphanet |
636 |
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other cancers, including brain tumors and cancer of blood-forming tissue |
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(leukemia). |
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SNOMED CT |
92824003 |
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html:p |
During childhood, benign growths called Lisch nodules often appear in the |
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colored part of the eye (the iris). Lisch nodules do not interfere with vision. |
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Some affected individuals also develop tumors that grow along the nerve leading |
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from the eye to the brain (the optic nerve). These tumors, which are called |
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optic gliomas, may lead to reduced vision or total vision loss. In some cases, |
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optic gliomas have no effect on vision. |
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html:p |
Additional signs and symptoms of neurofibromatosis type 1 include high blood |
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pressure (hypertension), short stature, an unusually large head (macrocephaly), |
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and skeletal abnormalities such as an abnormal curvature of the spine |
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(scoliosis). Although most people with neurofibromatosis type 1 have normal |
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intelligence, learning disabilities and attention deficit hyperactivity disorder |
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(ADHD) occur frequently in affected individuals. |
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related-gene-list |
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Neurofibromatosis type 2 |
https://ghr.nlm.nih.gov/condition/neurofibromatosis-type-2 |
Neurofibromatosis type 2 has an estimated incidence of 1 in 33,000 people |
html:p |
Neurofibromatosis type 2 is a disorder characterized by the growth of |
ad |
autosomal dominant |
NF2 |
https://ghr.nlm.nih.gov/gene/NF2 |
BANF |
db |
key |
2013-12 |
2017-12-29 |
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神經性纖維瘤第2型 |
worldwide. |
noncancerous tumors in the nervous system. The most common tumors associated |
bilateral acoustic neurofibromatosis |
GTR |
C0027832 |
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with neurofibromatosis type 2 are called vestibular schwannomas or acoustic |
central neurofibromatosis |
db |
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neuromas. These growths develop along the nerve that carries information from |
familial acoustic neuromas |
GeneReviews |
nf2 |
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the inner ear to the brain (the auditory nerve). Tumors that occur on other |
neurofibromatosis 2 |
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nerves are also commonly found with this condition. |
|
neurofibromatosis type II |
ICD-10-CM |
Q85.0 |
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html:p |
The signs and symptoms of neurofibromatosis type 2 usually appear during |
NF2 |
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adolescence or in a person's early twenties, although they can begin at any age. |
schwannoma, acoustic, bilateral |
ICD-10-CM |
Q85.00 |
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The most frequent early symptoms of vestibular schwannomas are hearing loss, |
db |
key |
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ringing in the ears (tinnitus), and problems with balance. In most cases, these |
ICD-10-CM |
Q85.02 |
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tumors occur in both ears by age 30. If tumors develop elsewhere in the nervous |
db |
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system, signs and symptoms vary according to their location. Complications of |
ICD-10-CM |
Q85.03 |
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tumor growth can include changes in vision, numbness or weakness in the arms or |
db |
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legs, and fluid buildup in the brain. Some people with neurofibromatosis type 2 |
MeSH |
D016518 |
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also develop clouding of the lens (cataracts) in one or both eyes, often |
db |
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beginning in childhood. |
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OMIM |
101000 |
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db |
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Orphanet |
637 |
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db |
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related-gene-list |
|
SNOMED CT |
92503002 |
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Neurohypophyseal diabetes insipidus |
https://ghr.nlm.nih.gov/condition/neurohypophyseal-diabetes-insipidus |
Neurohypophyseal diabetes insipidus is thought to be rare, although its |
html:p |
Neurohypophyseal diabetes insipidus is a disorder of water balance. The body |
ad |
autosomal dominant |
AVP |
https://ghr.nlm.nih.gov/gene/AVP |
central diabetes insipidus |
db |
key |
2010-04 |
2017-12-29 |
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exact incidence is unknown. The acquired form occurs much more frequently than |
normally balances fluid intake with the excretion of fluid in urine. However, |
code |
memo |
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diabetes insipidus secondary to vasopressin deficiency |
GTR |
C0687720 |
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the familial form. |
people with neurohypophyseal diabetes insipidus produce too much urine |
ar |
autosomal recessive |
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diabetes insipidus, central |
db |
key |
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(polyuria), which causes them to be excessively thirsty (polydipsia). Affected |
diabetes insipidus, neurogenic |
ICD-10-CM |
E23.2 |
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people need to urinate frequently, which can disrupt daily activities and sleep. |
diabetes insipidus, neurohypophyseal |
db |
key |
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html:p |
People with neurohypophyseal diabetes insipidus can quickly become dehydrated if |
diabetes insipidus, pituitary |
MeSH |
D020790 |
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they do not drink enough water. Dehydration can lead to constipation and dry |
pituitary diabetes insipidus |
db |
key |
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skin. If the disorder is not treated, more serious complications of dehydration |
vasopressin defective diabetes insipidus |
OMIM |
125700 |
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can occur. These include confusion, low blood pressure, seizures, and coma. |
vasopressin deficiency |
db |
key |
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html:p |
Neurohypophyseal diabetes insipidus can be either acquired or familial. The |
Orphanet |
178029 |
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acquired form is brought on by injuries, tumors, and other factors, and can |
db |
key |
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occur at any time during life. The familial form is caused by genetic mutations; |
SNOMED CT |
45369008 |
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its signs and symptoms usually become apparent in childhood and worsen over |
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time. |
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html:p |
Neurohypophyseal diabetes insipidus should not be confused with diabetes |
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mellitus, which is much more common. Diabetes mellitus is characterized by high |
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blood sugar levels resulting from a shortage of the hormone insulin or an |
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insensitivity to this hormone. Although neurohypophyseal diabetes insipidus and |
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diabetes mellitus have some features in common, they are separate disorders with |
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different causes. |
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synonym-list |
db-key-list |
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Neuromyelitis optica |
https://ghr.nlm.nih.gov/condition/neuromyelitis-optica |
Neuromyelitis optica affects approximately 1 to 2 per 100,000 people |
html:p |
Neuromyelitis optica is an autoimmune disorder that affects the nerves of the |
u |
pattern unknown |
synonym |
Devic neuromyelitis optica |
key |
2017-12-29 |
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視神經脊髓炎 |
worldwide. Women are affected by this condition more frequently than men. |
eyes and the central nervous system, which includes the brain and spinal cord. |
synonym |
Devic syndrome |
db-key |
C0027873 |
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Autoimmune disorders occur when the immune system malfunctions and attacks the |
synonym |
Devic's disease |
key |
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body's own tissues and organs. In neuromyelitis optica, the autoimmune attack |
synonym |
optic-spinal MS |
db-key |
G36.0 |
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causes inflammation of the nerves, and the resulting damage leads to the signs |
synonym |
opticospinal MS |
key |
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and symptoms of the condition. |
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db-key |
D009471 |
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html:p |
Neuromyelitis optica is characterized by optic neuritis, which is inflammation |
key |
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of the nerve that carries information from the eye to the brain (optic nerve). |
db-key |
600308 |
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Optic neuritis causes eye pain and vision loss, which can occur in one or both |
key |
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eyes. |
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db-key |
71211 |
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html:p |
Neuromyelitis optica is also characterized by transverse myelitis, which is |
key |
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inflammation of the spinal cord. The inflammation associated with transverse |
25044007 |
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myelitis damages the spinal cord, causing a lesion that often extends the length |
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of three or more bones of the spine (vertebrae). In addition, myelin, which is |
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the covering that protects nerves and promotes the efficient transmission of |
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nerve impulses, can be damaged. Transverse myelitis causes weakness, numbness, |
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and paralysis of the arms and legs. Other effects of spinal cord damage can |
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include disturbances in sensations, loss of bladder and bowel control, |
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uncontrollable hiccupping, and nausea. In addition, muscle weakness may make |
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breathing difficult and can cause life-threatening respiratory failure in people |
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with neuromyelitis optica. |
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html:p |
There are two forms of neuromyelitis optica, the relapsing form and the |
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monophasic form. The relapsing form is most common. This form is characterized |
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by recurrent episodes of optic neuritis and transverse myelitis. These episodes |
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can be months or years apart, and there is usually partial recovery between |
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episodes. However, most affected individuals eventually develop permanent muscle |
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weakness and vision impairment that persist even between episodes. For unknown |
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reasons, approximately nine times more women than men have the relapsing form. |
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The monophasic form, which is less common, causes a single episode of |
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neuromyelitis optica that can last several months. People with this form of the |
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condition can also have lasting muscle weakness or paralysis and vision loss. |
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This form affects men and women equally. The onset of either form of |
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neuromyelitis optica can occur anytime from childhood to adulthood, although the |
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condition most frequently begins in a person's forties. |
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html:p |
Approximately one-quarter of individuals with neuromyelitis optica have signs or |
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symptoms of another autoimmune disorder such as myasthenia gravis, systemic |
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lupus erythematosus, or Sjögren syndrome. Some scientists believe that a |
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condition described in Japanese patients as optic-spinal multiple sclerosis (or |
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opticospinal multiple sclerosis) that affects the nerves of the eyes and central |
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nervous system is the same as neuromyelitis optica. |
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Neuronal ceroid lipofuscinosis,NCLs |
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神經元蠟樣脂褐質儲積症 |
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related-gene-list |
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Neuropathy, ataxia, and retinitis pigmentosa |
https://ghr.nlm.nih.gov/condition/neuropathy-ataxia-and-retinitis-pigmentosa |
The prevalence of NARP is unknown. This disorder is probably less common |
html:p |
Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a |
m |
mitochondrial |
MT-ATP6 |
https://ghr.nlm.nih.gov/gene/MT-ATP6 |
NARP |
db |
key |
2006-11 |
2017-12-29 |
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than a similar but more severe condition, Leigh syndrome, which affects about 1 |
variety of signs and symptoms chiefly affecting the nervous system. Beginning |
related-mitochondrial-dna |
name |
ghr-page |
NARP syndrome |
GTR |
C1838914 |
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in 40,000 people. |
in childhood or early adulthood, most people with NARP experience numbness, |
mitochondrial DNA |
https://ghr.nlm.nih.gov/mitochondrial-dna |
neurogenic muscle weakness, ataxia, and retinitis pigmentosa |
db |
key |
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tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; |
neuropathy, ataxia, and retinitis pigmentos |
GeneReviews |
mt-overview |
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and problems with balance and coordination (ataxia). Many affected individuals |
db |
key |
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also have vision loss caused by changes in the light-sensitive tissue that lines |
GeneReviews |
narp |
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the back of the eye (the retina). In some cases, the vision loss results from |
db |
key |
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a condition called retinitis pigmentosa. This eye disease causes the |
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ICD-10-CM |
E88.49 |
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light-sensing cells of the retina gradually to deteriorate. |
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db |
key |
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html:p |
Learning disabilities and developmental delays are often seen in children with |
MeSH |
D028361 |
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NARP, and older individuals with this condition may experience a loss of |
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key |
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intellectual function (dementia). Other features of NARP include seizures, |
OMIM |
551500 |
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hearing loss, and abnormalities of the electrical signals that control the |
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key |
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heartbeat (cardiac conduction defects). These signs and symptoms vary among |
Orphanet |
644 |
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affected individuals. |
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db |
key |
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related-gene-list |
|
SNOMED CT |
237984008 |
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Neutral lipid storage disease with myopathy |
https://ghr.nlm.nih.gov/condition/neutral-lipid-storage-disease-with-myopathy |
Neutral lipid storage disease with myopathy is a rare condition; its |
html:p |
Neutral lipid storage disease with myopathy is a condition in which fats |
ar |
autosomal recessive |
PNPLA2 |
https://ghr.nlm.nih.gov/gene/PNPLA2 |
neutral lipid storage disease without ichthyosis |
db |
key |
2014-02 |
2017-12-29 |
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中性脂肪沉積症 |
incidence is unknown. |
(lipids) are stored abnormally in organs and tissues throughout the body. |
NLSDM |
GTR |
C1853136 |
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People with this condition have muscle weakness (myopathy) due to the |
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db |
key |
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accumulation of fats in muscle tissue. Other features of this condition may |
MeSH |
D008052 |
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include a fatty liver, a weakened and enlarged heart (cardiomyopathy), |
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db |
key |
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inflammation of the pancreas (pancreatitis), reduced thyroid activity |
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OMIM |
610717 |
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(hypothyroidism), and type 2 diabetes (the most common form of diabetes). Signs |
db |
key |
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and symptoms of neutral lipid storage disease with myopathy vary greatly among |
Orphanet |
165 |
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affected individuals. |
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db |
key |
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inheritance-pattern-list |
|
SNOMED CT |
699315005 |
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NGLY1-congenital disorder of deglycosylation |
https://ghr.nlm.nih.gov/condition/ngly1-congenital-disorder-of-deglycosylation |
NGLY1-CDDG is a rare disorder. At least 46 individuals with the condition |
html:p |
html:i |
-CDDG) is an inherited condition that affects many parts of the body. The |
ar |
autosomal recessive |
gene-symbol |
synonym |
congenital disorder of deglycosylation |
db-key |
db |
key |
2017-08 |
2017-12-29 |
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have been described in the medical literature. |
NGLY1 |
severity of the signs and symptoms varies widely among people with the |
NGLY1 |
synonym |
deficiency of N-glycanase 1 |
GTR |
C3808991 |
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condition. |
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synonym |
NGLY1-CDDG |
db-key |
db |
key |
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html:p |
Individuals with NGLY1-CDDG typically develop features of the condition during infancy. |
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MeSH |
D002239 |
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NGLY1 |
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db-key |
db |
key |
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OMIM |
615273 |
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-CDDG may also have problems with liver function. Some affected individuals have |
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eye abnormalities, including degeneration of the nerves that carry information |
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from the eyes to the brain (optic atrophy) and changes in the light-sensing |
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tissue at the back of the eye (the retina). A reduction or absence of tears |
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html:i |
-CDDG. |
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NGLY1 |
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related-gene-list |
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Nicolaides-Baraitser syndrome |
https://ghr.nlm.nih.gov/condition/nicolaides-baraitser-syndrome |
Nicolaides-Baraitser syndrome is likely a rare condition; approximately 75 |
html:p |
Nicolaides-Baraitser syndrome is a condition that affects many body systems. |
ad |
autosomal dominant |
SMARCA2 |
https://ghr.nlm.nih.gov/gene/SMARCA2 |
NBS |
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2015-12 |
2017-12-29 |
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Nicolaides-Baraitser综合征 |
cases have been reported in the scientific literature. |
Affected individuals can have a wide variety of signs and symptoms, but the most |
NCBRS |
GTR |
C1303073 |
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common are sparse scalp hair, small head size (microcephaly), distinct facial |
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features, short stature, prominent finger joints, unusually short fingers and |
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toes (brachydactyly), recurrent seizures (epilepsy), and moderate to severe |
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intellectual disability with impaired language development. |
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MeSH |
D000015 |
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html:p |
In people with Nicolaides-Baraitser syndrome, the sparse scalp hair is often |
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noticeable in infancy. The amount of hair decreases over time, but the growth |
MeSH |
D008607 |
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rate and texture of the hair that is present is normal. Affected adults |
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generally have very little hair. In rare cases, the amount of scalp hair |
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OMIM |
601358 |
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increases over time. As affected individuals age, their eyebrows may become less |
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full, but their eyelashes almost always remain normal. At birth, the hair on |
Orphanet |
3051 |
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the face may be abnormally thick (hypertrichosis) but thins out over time. |
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Most affected individuals grow slowly, resulting in short stature and |
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SNOMED CT |
401046009 |
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microcephaly. Sometimes, growth before birth is unusually slow. |
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html:p |
The characteristic facial features of people with Nicolaides-Baraitser syndrome |
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include a triangular face, deep-set eyes, a thin nasal bridge, wide nostrils, a |
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pointed nasal tip, and a thick lower lip. Many affected individuals have a lack |
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of fat under the skin (subcutaneous fat) of the face, which may cause premature |
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wrinkling. Throughout their bodies, people with Nicolaides-Baraitser syndrome |
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may have pale skin with veins that are visible on the skin surface due to the |
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lack of subcutaneous fat. |
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html:p |
In people with Nicolaides-Baraitser syndrome, a lack of subcutaneous fat in the |
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hands makes the finger joints appear larger than normal. Over time, the |
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fingertips become broad and oval shaped. Additionally, there is a wide gap |
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between the first and second toes (known as a sandal gap). |
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html:p |
Most people with Nicolaides-Baraitser syndrome have epilepsy, which often begins |
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in infancy. Affected individuals can experience multiple seizure types, and the |
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seizures can be difficult to control with medication. |
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html:p |
Almost everyone with Nicolaides-Baraitser syndrome has moderate to severe |
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intellectual disability. Early developmental milestones, such as crawling and |
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walking, are often normally achieved, but further development is limited, and |
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language development is severely impaired. At least one-third of affected |
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individuals never develop speech, while others lose their verbal communication |
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over time. People with this condition are often described as having a happy |
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demeanor and being very friendly, although they can exhibit moments of |
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aggression and temper tantrums. |
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html:p |
Other signs and symptoms of Nicolaides-Baraitser syndrome include an |
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inflammatory skin disorder called eczema. About half of individuals with |
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Nicolaides-Baraitser syndrome have a soft out-pouching around the belly-button |
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(umbilical hernia) or lower abdomen (inguinal hernia). Some affected individuals |
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have dental abnormalities such as widely spaced teeth, delayed eruption of |
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teeth, and absent teeth (hypodontia). Most affected males have undescended |
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testes (cryptorchidism) and females may have underdeveloped breasts. Nearly half |
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of individuals with Nicolaides-Baraitser syndrome have feeding problems. |
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related-gene-list |
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Niemann-Pick disease |
https://ghr.nlm.nih.gov/condition/niemann-pick-disease |
Niemann-Pick disease types A and B is estimated to affect 1 in 250,000 |
html:p |
Niemann-Pick disease is a condition that affects many body systems. It has a |
ar |
autosomal recessive |
NPC1 |
https://ghr.nlm.nih.gov/gene/NPC1 |
lipid histiocytosis |
db |
key |
2015-01 |
2017-12-29 |
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尼曼匹克症 |
individuals. Niemann-Pick disease type A occurs more frequently among |
wide range of symptoms that vary in severity. Niemann-Pick disease is divided |
related-gene |
gene-symbol |
ghr-page |
neuronal cholesterol lipidosis |
GTR |
C0028064 |
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individuals of Ashkenazi (eastern and central European) Jewish descent than in |
into four main types: type A, type B, type C1, and type C2. These types are |
NPC2 |
https://ghr.nlm.nih.gov/gene/NPC2 |
neuronal lipidosis |
db |
key |
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the general population. The incidence within the Ashkenazi population is |
classified on the basis of genetic cause and the signs and symptoms of the |
related-gene |
gene-symbol |
ghr-page |
NPD |
GTR |
C0220756 |
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approximately 1 in 40,000 individuals.Combined, Niemann-Pick disease types C1 |
condition. |
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SMPD1 |
https://ghr.nlm.nih.gov/gene/SMPD1 |
sphingomyelin lipidosis |
db |
key |
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and C2 are estimated to affect 1 in 150,000 individuals; however, type C1 is by |
html:p |
Infants with Niemann-Pick disease type A usually develop an enlarged liver and |
sphingomyelin/cholesterol lipidosis |
GTR |
C0268242 |
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far the more common type, accounting for 95 percent of cases. The disease occurs |
spleen (hepatosplenomegaly) by age 3 months and fail to gain weight and grow at |
sphingomyelinase deficiency |
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key |
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more frequently in people of French-Acadian descent in Nova Scotia. In Nova |
the expected rate (failure to thrive). The affected children develop normally |
GTR |
C0268243 |
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Scotia, a population of affected French-Acadians were previously designated as |
until around age 1 year when they experience a progressive loss of mental |
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key |
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having Niemann-Pick disease type D, however, it was shown that these individuals |
abilities and movement (psychomotor regression). Children with Niemann-Pick |
GTR |
C0268247 |
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have mutations in the gene associated with Niemann-Pick disease type C1. |
disease type A also develop widespread lung damage (interstitial lung disease) |
db |
key |
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that can cause recurrent lung infections and eventually lead to respiratory |
GTR |
C1843366 |
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failure. All affected children have an eye abnormality called a cherry-red spot, |
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which can be identified with an eye examination. Children with Niemann-Pick |
GTR |
C2675646 |
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disease type A generally do not survive past early childhood. |
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html:p |
Niemann-Pick disease type B usually presents in mid-childhood. The signs and |
GTR |
C3179455 |
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symptoms of this type are similar to type A, but not as severe. People with |
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Niemann-Pick disease type B often have hepatosplenomegaly, recurrent lung |
GeneReviews |
npab |
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infections, and a low number of platelets in the blood (thrombocytopenia). They |
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also have short stature and slowed mineralization of bone (delayed bone age). |
GeneReviews |
npc |
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About one-third of affected individuals have the cherry-red spot eye abnormality |
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or neurological impairment. People with Niemann-Pick disease type B usually |
ICD-10-CM |
E75.24 |
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survive into adulthood. |
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html:p |
The signs and symptoms of Niemann-Pick disease types C1 and C2 are very similar; |
ICD-10-CM |
E75.240 |
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these types differ only in their genetic cause. Niemann-Pick disease types C1 |
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and C2 usually become apparent in childhood, although signs and symptoms can |
ICD-10-CM |
E75.241 |
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develop at any time. People with these types usually develop difficulty |
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coordinating movements (ataxia), an inability to move the eyes vertically |
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ICD-10-CM |
E75.242 |
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(vertical supranuclear gaze palsy), poor muscle tone (dystonia), severe liver |
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disease, and interstitial lung disease. Individuals with Niemann-Pick disease |
ICD-10-CM |
E75.243 |
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types C1 and C2 have problems with speech and swallowing that worsen over time, |
db |
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eventually interfering with feeding. Affected individuals often experience |
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ICD-10-CM |
E75.248 |
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progressive decline in intellectual function and about one-third have seizures. |
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People with these types may survive into adulthood. |
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ICD-10-CM |
E75.249 |
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db |
key |
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MeSH |
D009542 |
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db |
key |
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OMIM |
257200 |
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db |
key |
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OMIM |
257220 |
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db |
key |
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OMIM |
607616 |
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db |
key |
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OMIM |
607625 |
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db |
key |
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Orphanet |
646 |
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db |
key |
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Orphanet |
77292 |
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db |
key |
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Orphanet |
77293 |
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db |
key |
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Orphanet |
79289 |
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db |
key |
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Orphanet |
99022 |
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db |
key |
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SNOMED CT |
18927009 |
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db |
key |
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SNOMED CT |
39390005 |
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db |
key |
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SNOMED CT |
52165006 |
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db |
key |
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SNOMED CT |
58459009 |
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db |
key |
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SNOMED CT |
66751000 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
73399005 |
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Nijmegen breakage syndrome |
https://ghr.nlm.nih.gov/condition/nijmegen-breakage-syndrome |
The exact prevalence of Nijmegen breakage syndrome is unknown. This |
html:p |
Nijmegen breakage syndrome is a condition characterized by short stature, an |
ar |
autosomal recessive |
NBN |
https://ghr.nlm.nih.gov/gene/NBN |
ataxia-telangiectasia variant 1 |
db |
key |
2017-05 |
2017-12-29 |
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condition is estimated to affect one in 100,000 newborns worldwide, but is |
unusually small head size (microcephaly), distinctive facial features, recurrent |
Berlin breakage syndrome |
GTR |
C0398791 |
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thought to be most common in the Slavic populations of Eastern Europe. |
respiratory tract infections, an increased risk of cancer, intellectual |
microcephaly, normal intelligence and immunodeficiency |
db |
key |
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disability, and other health problems. |
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Seemanova syndrome |
GeneReviews |
nijmegen |
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html:p |
People with this condition typically grow slowly during infancy and early |
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db |
key |
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childhood. After this period of slow growth, affected individuals grow at a |
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MeSH |
D049932 |
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normal rate but remain shorter than their peers. Microcephaly is apparent from |
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birth in the majority of affected individuals. The head does not grow at the |
OMIM |
251260 |
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same rate as the rest of the body, so it appears that the head is getting |
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smaller as the body grows (progressive microcephaly). Individuals with Nijmegen |
Orphanet |
647 |
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breakage syndrome have distinctive facial features that include a sloping |
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forehead, a prominent nose, large ears, a small jaw, and outside corners of the |
SNOMED CT |
234638009 |
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eyes that point upward (upslanting palpebral fissures). These facial features |
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typically become apparent by age 3. |
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html:p |
People with Nijmegen breakage syndrome have a malfunctioning immune system |
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(immunodeficiency) with abnormally low levels of immune system proteins called |
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immunoglobulin G (IgG) and immunoglobulin A (IgA). Affected individuals also |
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have a shortage of immune system cells called T cells. The immune system |
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abnormalities increase susceptibility to recurrent infections, such as |
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bronchitis, pneumonia, sinusitis, and other infections affecting the upper |
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respiratory tract and lungs. |
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html:p |
Individuals with Nijmegen breakage syndrome have an increased risk of developing |
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cancer, most commonly a cancer of immune system cells called non-Hodgkin |
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lymphoma. About half of individuals with Nijmegen breakage syndrome develop |
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non-Hodgkin lymphoma, usually before age 15. Other cancers seen in people with |
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Nijmegen breakage syndrome include brain tumors such as medulloblastoma and |
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glioma, and a cancer of muscle tissue called rhabdomyosarcoma. People with |
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Nijmegen breakage syndrome are 50 times more likely to develop cancer than |
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people without this condition. |
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html:p |
Intellectual development is normal in most people with this condition for the |
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first year or two of life, but then development becomes delayed. Skills decline |
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over time, and most affected children and adults have mild to moderate |
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intellectual disability. |
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html:p |
Most affected woman have premature ovarian failure and do not begin menstruation |
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by age 16 (primary amenorrhea) or have infrequent menstrual periods. Most women |
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with Nijmegen breakage syndrome are unable to have biological children |
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(infertile). |
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Nitroactylglutamate Synthetase (NAGS) Deficiency |
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乙醯穀胺酸合成酶缺乏症 |
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Non-alcoholic fatty liver disease |
https://ghr.nlm.nih.gov/condition/non-alcoholic-fatty-liver-disease |
NAFLD is a very common disorder, occurring in about 25 percent of the |
html:p |
Non-alcoholic fatty liver disease (NAFLD) is a buildup of excessive fat in the |
u |
pattern unknown |
APOC3 |
https://ghr.nlm.nih.gov/gene/APOC3 |
fatty liver |
db |
key |
2016-11 |
2017-12-29 |
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非酒精性脂肪性肝病; |
global population. Its prevalence is increasing along with the rising prevalence |
liver that can lead to liver damage resembling the damage caused by alcohol |
related-gene |
gene-symbol |
ghr-page |
NAFLD |
GTR |
C2750440 |
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of obesity in industrialized societies, and it is now the most common chronic |
abuse, but that occurs in people who do not drink heavily. The liver is a part |
GCKR |
https://ghr.nlm.nih.gov/gene/GCKR |
NASH |
db |
key |
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liver disorder in Western countries, including the United States. NAFLD is more |
of the digestive system that helps break down food, store energy, and remove |
related-gene |
gene-symbol |
ghr-page |
non-alcoholic steatohepatitis |
GTR |
C3150651 |
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prevalent in individuals of Hispanic, Native American, or Asian ancestry than in |
waste products, including toxins. The liver normally contains some fat; an |
MBOAT7 |
https://ghr.nlm.nih.gov/gene/MBOAT7 |
nonalcoholic fatty liver disease |
db |
key |
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individuals of European or African ancestry. |
individual is considered to have a fatty liver (hepatic steatosis) if the liver |
related-gene |
gene-symbol |
ghr-page |
nonalcoholic steatohepatitis |
ICD-10-CM |
K75.81 |
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contains more than 5 to 10 percent fat. |
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PNPLA3 |
https://ghr.nlm.nih.gov/gene/PNPLA3 |
steatosis |
db |
key |
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html:p |
The fat deposits in the liver associated with NAFLD usually cause no symptoms, |
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D065626 |
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although they may cause increased levels of liver enzymes that are detected in |
TM6SF2 |
https://ghr.nlm.nih.gov/gene/TM6SF2 |
db |
key |
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routine blood tests. Some affected individuals have abdominal pain or fatigue. |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
613282 |
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During a physical examination, the liver may be found to be slightly enlarged. |
TRIB1 |
https://ghr.nlm.nih.gov/gene/TRIB1 |
db |
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html:p |
Between 7 and 30 percent of people with NAFLD develop inflammation of the liver |
OMIM |
613387 |
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(non-alcoholic steatohepatitis, also known as NASH), leading to liver damage. |
db |
key |
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Minor damage to the liver can be repaired by the body. However, severe or |
Orphanet |
33271 |
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long-term damage can lead to the replacement of normal liver tissue with scar |
db |
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tissue (fibrosis), resulting in irreversible liver disease (cirrhosis) that |
|
SNOMED CT |
197315008 |
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causes the liver to stop working properly. Signs and symptoms of cirrhosis, |
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which get worse as fibrosis affects more of the liver, include fatigue, |
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weakness, loss of appetite, weight loss, nausea, swelling (edema), and yellowing |
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of the skin and whites of the eyes (jaundice). Scarring in the vein that |
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carries blood into the liver from the other digestive organs (the portal vein) |
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can lead to increased pressure in that blood vessel (portal hypertension), |
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resulting in swollen blood vessels (varices) within the digestive system. |
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Rupture of these varices can cause life-threatening bleeding. |
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html:p |
NAFLD and NASH are thought to account for many cases of cirrhosis that have no |
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obvious underlying cause (cryptogenic cirrhosis); at least one-third of people |
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with NASH eventually develop cirrhosis. People with NAFLD, NASH, and cirrhosis |
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are also at increased risk of developing liver cancer (hepatocellular cancer). |
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html:p |
NAFLD is most common in middle-aged or older people, although younger people, |
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including children, are also affected. It is often considered as part of a group |
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of conditions known collectively as the metabolic syndrome; in addition to |
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NAFLD, the metabolic syndrome includes obesity, type 2 diabetes or pre-diabetes |
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(insulin resistance), high levels of fats (lipids) such as cholesterol and |
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triglycerides in the blood, and high blood pressure (hypertension). However, a |
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person with NAFLD may not have all or any of the other conditions that make up |
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the metabolic syndrome, and individuals with some or all of those conditions may |
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not have NAFLD. |
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related-gene-list |
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Nonbullous congenital ichthyosiform erythroderma |
https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroder |
NBCIE is estimated to affect 1 in 200,000 to 300,000 individuals in the |
html:p |
Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that |
ar |
autosomal recessive |
ABCA12 |
https://ghr.nlm.nih.gov/gene/ABCA12 |
congenital ichthyosiform erythroderma |
db |
key |
2017-07 |
2017-12-29 |
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非皰疹先天性魚鱗狀紅皮病 |
ma |
United States. This condition is more common in Norway, where an estimated 1 in |
mainly affects the skin. Many infants with this condition are born with a tight, |
related-gene |
gene-symbol |
ghr-page |
congenital nonbullous ichthyosiform erythroderma |
GTR |
C1832550 |
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90,000 people are affected. |
clear sheath covering their skin called a collodion membrane. Constriction by |
ALOX12B |
https://ghr.nlm.nih.gov/gene/ALOX12B |
NBCIE |
db |
key |
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the membrane may cause the lips and eyelids to be turned out so the inner |
related-gene |
gene-symbol |
ghr-page |
NBIE |
GTR |
C1847849 |
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surface is exposed. The collodion membrane is usually shed during the first few |
ALOXE3 |
https://ghr.nlm.nih.gov/gene/ALOXE3 |
NCIE |
db |
key |
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weeks of life. Following shedding of the collodion membrane, the skin is red |
related-gene |
gene-symbol |
ghr-page |
nonbullous ichthyosiform erythroderma |
GTR |
C1855792 |
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(erythroderma) and covered with fine, white scales (ichthyosis). Infants with |
CASP14 |
https://ghr.nlm.nih.gov/gene/CASP14 |
db |
key |
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NBCIE may develop infections, an excessive loss of fluids (dehydration), and |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1858142 |
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respiratory problems early in life. |
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CERS3 |
https://ghr.nlm.nih.gov/gene/CERS3 |
db |
key |
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html:p |
Some people with NBCIE have thickening of the skin on the palms of the hands and |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2677065 |
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soles of the feet (palmoplantar keratoderma), decreased or absent sweating |
CYP4F22 |
https://ghr.nlm.nih.gov/gene/CYP4F22 |
db |
key |
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(anhidrosis), and abnormal nails (nail dystrophy). In severe cases, there is an |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3554349 |
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absence of hair growth (alopecia) in certain areas, often affecting the scalp |
NIPAL4 |
https://ghr.nlm.nih.gov/gene/NIPAL4 |
db |
key |
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and eyebrows. |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C3554355 |
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html:p |
In individuals with NBCIE, some of the skin problems may improve by adulthood. |
PNPLA1 |
https://ghr.nlm.nih.gov/gene/PNPLA1 |
db |
key |
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Life expectancy is normal in people with NBCIE. |
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GTR |
C4310621 |
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db |
key |
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GeneReviews |
li-ar |
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db |
key |
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MeSH |
D016113 |
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db |
key |
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OMIM |
242100 |
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db |
key |
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OMIM |
601277 |
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db |
key |
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OMIM |
604777 |
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db |
key |
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OMIM |
606545 |
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db |
key |
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OMIM |
612281 |
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db |
key |
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OMIM |
615023 |
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db |
key |
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OMIM |
615024 |
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db |
key |
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OMIM |
617320 |
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db |
key |
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Orphanet |
281097 |
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db |
key |
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synonym-list |
db-key-list |
|
SNOMED CT |
267372009 |
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Nonsyndromic aplasia cutis congenita |
https://ghr.nlm.nih.gov/condition/nonsyndromic-aplasia-cutis-congenita |
Aplasia cutis congenita affects approximately 1 in 10,000 newborns. The |
html:p |
Nonsyndromic aplasia cutis congenita is a condition in which babies are born |
ad |
autosomal dominant |
synonym |
congenital absence of skin on scalp |
key |
2017-12-29 |
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先天性非综合征性皮肤发育不全 |
incidence of the nonsyndromic form is unknown. |
with localized areas of missing skin (lesions). These areas resemble ulcers or |
code |
memo |
synonym |
congenital defect of the skull and scalp |
db-key |
C0282160 |
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open wounds, although they are sometimes already healed at birth. Lesions most |
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autosomal recessive |
synonym |
congenital ulcer of the newborn |
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commonly occur on the top of the head (skull vertex), although they can be found |
code |
memo |
synonym |
scalp defect congenital |
db-key |
D004476 |
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on the torso or limbs. In some cases, the bone and other tissues under the skin |
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not inherited |
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defect are also underdeveloped. |
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db-key |
107600 |
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Most affected babies have a single lesion. The lesions vary in size and can be |
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differently shaped: some are round or oval, others rectangular, and still others |
db-key |
1114 |
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star-shaped. They usually leave a scar after they heal. When the scalp is |
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involved, there may be an absence of hair growth (alopecia) in the affected |
239152005 |
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area. |
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When the underlying bone and other tissues are involved, affected individuals |
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are at higher risk of infections. If these severe defects occur on the head, the |
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membrane that covers the brain (the dura mater) may be exposed, and |
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life-threatening bleeding may occur from nearby vessels. |
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html:p |
Skin lesions are typically the only feature of nonsyndromic aplasia cutis |
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congenita, although other skin problems and abnormalities of the bones and other |
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tissues occur rarely. However, the characteristic skin lesions can occur as one |
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of many symptoms in other conditions, including Johanson-Blizzard syndrome and |
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Adams-Oliver syndrome. These instances are described as syndromic aplasia cutis |
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congenita. |
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related-gene-list |
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Nonsyndromic congenital nail disorder 10 |
https://ghr.nlm.nih.gov/condition/nonsyndromic-congenital-nail-disorder-10 |
Nonsyndromic congenital nail disorder 10 is likely a rare disorder. At |
html:p |
Nonsyndromic congenital nail disorder 10 is a condition that affects the |
ar |
autosomal recessive |
FZD6 |
https://ghr.nlm.nih.gov/gene/FZD6 |
claw-shaped nails |
db |
key |
2017-03 |
2017-12-29 |
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least 14 affected individuals have been described in the scientific literature. |
fingernails and toenails. Affected individuals have extremely thick nails |
nail disorder, nonsyndromic congenital, 10 |
GTR |
C3279974 |
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(onychauxis) that separate from the underlying nail bed (onycholysis) and can |
NDNC10 |
db |
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appear claw-like. Some fingers and toes may be missing part of the nail |
onychauxis, hyponychia, and onycholysis |
ICD-10-CM |
L60.1 |
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(hyponychia). |
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db |
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html:p |
In affected individuals, the nails are often abnormal from birth. However, the |
ICD-10-CM |
Q84.5 |
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abnormalities may not be noticeable until later in childhood because the nails |
db |
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tend to grow more slowly than normal. |
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MeSH |
D054039 |
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html:p |
Individuals with nonsyndromic congenital nail disorder 10 do not have any other |
db |
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health problems related to the condition. |
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OMIM |
614157 |
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db |
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Orphanet |
280654 |
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db |
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SNOMED CT |
75789001 |
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db |
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related-gene-list |
|
SNOMED CT |
88103004 |
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Nonsyndromic hearing loss |
https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss |
Between 2 and 3 per 1,000 children in the United States are born with |
html:p |
Nonsyndromic hearing loss is a partial or total loss of hearing that is not |
ad |
autosomal dominant |
ACTG1 |
https://ghr.nlm.nih.gov/gene/ACTG1 |
isolated deafness |
db |
key |
2016-02 |
2017-12-29 |
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非症候群聽障 |
detectable hearing loss in one or both ears. The prevalence of hearing loss |
associated with other signs and symptoms. In contrast, syndromic hearing loss |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
nonsyndromic deafness |
GTR |
C0236038 |
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increases with age; the condition affects 1 in 8 people in the United States age |
occurs with signs and symptoms affecting other parts of the body. |
ar |
autosomal recessive |
ADCY1 |
https://ghr.nlm.nih.gov/gene/ADCY1 |
nonsyndromic hearing impairment |
db |
key |
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12 and older, or about 30 million people. By age 85, more than half of all |
html:p |
Nonsyndromic hearing loss can be classified in several different ways. One |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
nonsyndromic hearing loss and deafness |
GTR |
CN043648 |
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people experience hearing loss. |
common way is by the condition's pattern of inheritance: autosomal dominant |
m |
mitochondrial |
BDP1 |
https://ghr.nlm.nih.gov/gene/BDP1 |
db |
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(DFNA), autosomal recessive (DFNB), X-linked (DFNX), or mitochondrial (which |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
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GTR |
CN043651 |
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does not have a special designation). Each of these types of hearing loss |
x |
X-linked |
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BSND |
https://ghr.nlm.nih.gov/gene/BSND |
db |
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includes multiple subtypes. DFNA, DFNB, and DFNX subtypes are numbered in the |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
deafness-overview |
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order in which they were first described. For example, DFNA1 was the first type |
CABP2 |
https://ghr.nlm.nih.gov/gene/CABP2 |
db |
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of autosomal dominant nonsyndromic hearing loss to be identified. |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
dfna2 |
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html:p |
The characteristics of nonsyndromic hearing loss vary among the different types. |
CCDC50 |
https://ghr.nlm.nih.gov/gene/CCDC50 |
db |
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Hearing loss can affect one ear (unilateral) or both ears (bilateral). Degrees |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
dfna3 |
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of hearing loss range from mild (difficulty understanding soft speech) to |
CDH23 |
https://ghr.nlm.nih.gov/gene/CDH23 |
db |
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profound (inability to hear even very loud noises). The term "deafness" is often |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
dfnb1 |
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used to describe severe-to-profound hearing loss. Hearing loss can be stable, |
CEACAM16 |
https://ghr.nlm.nih.gov/gene/CEACAM16 |
db |
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or it may be progressive, becoming more severe as a person gets older. |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
dfnb9 |
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Particular types of nonsyndromic hearing loss show distinctive patterns of |
CIB2 |
https://ghr.nlm.nih.gov/gene/CIB2 |
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key |
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hearing loss. For example, the loss may be more pronounced at high, middle, or |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
dfnx1 |
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low tones. |
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CLDN14 |
https://ghr.nlm.nih.gov/gene/CLDN14 |
db |
key |
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html:p |
Most forms of nonsyndromic hearing loss are described as sensorineural, which |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
mt-deafness |
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means they are associated with a permanent loss of hearing caused by damage to |
CLIC5 |
https://ghr.nlm.nih.gov/gene/CLIC5 |
db |
key |
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structures in the inner ear. The inner ear processes sound and sends the |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
tbc1d24-dis |
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information to the brain in the form of electrical nerve impulses. Less |
COCH |
https://ghr.nlm.nih.gov/gene/COCH |
db |
key |
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commonly, nonsyndromic hearing loss is described as conductive, meaning it |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
wfs |
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results from changes in the middle ear. The middle ear contains three tiny bones |
COL4A6 |
https://ghr.nlm.nih.gov/gene/COL4A6 |
db |
key |
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that help transfer sound from the eardrum to the inner ear. Some forms of |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H90 |
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nonsyndromic hearing loss, particularly a type called DFNX2, involve changes in |
COL11A2 |
https://ghr.nlm.nih.gov/gene/COL11A2 |
db |
key |
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both the inner ear and the middle ear. This combination is called mixed hearing |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H90.0 |
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loss. |
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CRYM |
https://ghr.nlm.nih.gov/gene/CRYM |
db |
key |
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html:p |
Depending on the type, nonsyndromic hearing loss can become apparent at any time |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H90.1 |
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from infancy to old age. Hearing loss that is present before a child learns to |
DCDC2 |
https://ghr.nlm.nih.gov/gene/DCDC2 |
db |
key |
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speak is classified as prelingual or congenital. Hearing loss that occurs after |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H90.2 |
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the development of speech is classified as postlingual. |
DIABLO |
https://ghr.nlm.nih.gov/gene/DIABLO |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H90.3 |
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DIAPH1 |
https://ghr.nlm.nih.gov/gene/DIAPH1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H90.4 |
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DSPP |
https://ghr.nlm.nih.gov/gene/DSPP |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H90.5 |
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ELMOD3 |
https://ghr.nlm.nih.gov/gene/ELMOD3 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H90.6 |
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EPS8 |
https://ghr.nlm.nih.gov/gene/EPS8 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H90.7 |
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ESPN |
https://ghr.nlm.nih.gov/gene/ESPN |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H90.8 |
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ESRRB |
https://ghr.nlm.nih.gov/gene/ESRRB |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H90.11 |
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EYA4 |
https://ghr.nlm.nih.gov/gene/EYA4 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H90.12 |
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GIPC3 |
https://ghr.nlm.nih.gov/gene/GIPC3 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H90.41 |
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GJB2 |
https://ghr.nlm.nih.gov/gene/GJB2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H90.42 |
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GJB3 |
https://ghr.nlm.nih.gov/gene/GJB3 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H90.71 |
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GJB6 |
https://ghr.nlm.nih.gov/gene/GJB6 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H90.72 |
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GPSM2 |
https://ghr.nlm.nih.gov/gene/GPSM2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H91.8 |
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GRHL2 |
https://ghr.nlm.nih.gov/gene/GRHL2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H91.8X |
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GRXCR1 |
https://ghr.nlm.nih.gov/gene/GRXCR1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H91.8X1 |
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GRXCR2 |
https://ghr.nlm.nih.gov/gene/GRXCR2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H91.8X2 |
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GSDME |
https://ghr.nlm.nih.gov/gene/GSDME |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H91.8X3 |
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HGF |
https://ghr.nlm.nih.gov/gene/HGF |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H91.8X9 |
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HOMER2 |
https://ghr.nlm.nih.gov/gene/HOMER2 |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
H91.9 |
|
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|
ILDR1 |
https://ghr.nlm.nih.gov/gene/ILDR1 |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
H91.90 |
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|
KARS |
https://ghr.nlm.nih.gov/gene/KARS |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
H91.91 |
|
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|
KCNQ4 |
https://ghr.nlm.nih.gov/gene/KCNQ4 |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
H91.92 |
|
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|
LHFPL5 |
https://ghr.nlm.nih.gov/gene/LHFPL5 |
db |
key |
|
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|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
H91.93 |
|
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|
LOXHD1 |
https://ghr.nlm.nih.gov/gene/LOXHD1 |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D003638 |
|
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|
LRTOMT |
https://ghr.nlm.nih.gov/gene/LRTOMT |
db |
key |
|
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|
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D034381 |
|
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|
MARVELD2 |
https://ghr.nlm.nih.gov/gene/MARVELD2 |
db |
key |
|
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|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
220290 |
|
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|
MET |
https://ghr.nlm.nih.gov/gene/MET |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
300030 |
|
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|
MIR96 |
https://ghr.nlm.nih.gov/gene/MIR96 |
db |
key |
|
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|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
300066 |
|
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|
|
MSRB3 |
https://ghr.nlm.nih.gov/gene/MSRB3 |
db |
key |
|
|
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|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
300614 |
|
|
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|
|
MT-CO1 |
https://ghr.nlm.nih.gov/gene/MT-CO1 |
db |
key |
|
|
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|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
300914 |
|
|
|
|
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|
|
MT-RNR1 |
https://ghr.nlm.nih.gov/gene/MT-RNR1 |
db |
key |
|
|
|
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|
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|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
304400 |
|
|
|
|
|
|
|
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|
|
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|
|
|
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|
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|
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|
|
|
|
|
MT-TS1 |
https://ghr.nlm.nih.gov/gene/MT-TS1 |
db |
key |
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
304500 |
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
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|
|
|
|
|
|
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|
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|
|
|
|
|
|
MYH9 |
https://ghr.nlm.nih.gov/gene/MYH9 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
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|
|
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|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
580000 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
MYH14 |
https://ghr.nlm.nih.gov/gene/MYH14 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
600060 |
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
MYO3A |
https://ghr.nlm.nih.gov/gene/MYO3A |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
600101 |
|
|
|
|
|
|
|
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|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
MYO6 |
https://ghr.nlm.nih.gov/gene/MYO6 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
600316 |
|
|
|
|
|
|
|
|
|
|
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|
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|
|
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|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
MYO7A |
https://ghr.nlm.nih.gov/gene/MYO7A |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
600652 |
|
|
|
|
|
|
|
|
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|
|
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|
|
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|
|
|
|
|
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|
|
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|
|
|
|
|
|
|
|
|
|
MYO15A |
https://ghr.nlm.nih.gov/gene/MYO15A |
db |
key |
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
600965 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
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|
|
|
|
|
|
|
|
|
|
|
|
NARS2 |
https://ghr.nlm.nih.gov/gene/NARS2 |
db |
key |
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
600974 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
OSBPL2 |
https://ghr.nlm.nih.gov/gene/OSBPL2 |
db |
key |
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
600994 |
|
|
|
|
|
|
|
|
|
|
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|
|
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|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
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|
|
|
|
|
|
|
OTOA |
https://ghr.nlm.nih.gov/gene/OTOA |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
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|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
601071 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
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|
|
|
|
|
|
|
|
|
|
|
OTOF |
https://ghr.nlm.nih.gov/gene/OTOF |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
601316 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OTOG |
https://ghr.nlm.nih.gov/gene/OTOG |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
601317 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
OTOGL |
https://ghr.nlm.nih.gov/gene/OTOGL |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
601369 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
P2RX2 |
https://ghr.nlm.nih.gov/gene/P2RX2 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
601386 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
PCDH15 |
https://ghr.nlm.nih.gov/gene/PCDH15 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
601412 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
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|
|
PJVK |
https://ghr.nlm.nih.gov/gene/PJVK |
db |
key |
|
|
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|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
601543 |
|
|
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|
PNPT1 |
https://ghr.nlm.nih.gov/gene/PNPT1 |
db |
key |
|
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|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
601543 |
|
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|
POU3F4 |
https://ghr.nlm.nih.gov/gene/POU3F4 |
db |
key |
|
|
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|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
601544 |
|
|
|
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|
POU4F3 |
https://ghr.nlm.nih.gov/gene/POU4F3 |
db |
key |
|
|
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|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
601868 |
|
|
|
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|
PRPS1 |
https://ghr.nlm.nih.gov/gene/PRPS1 |
db |
key |
|
|
|
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|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
602092 |
|
|
|
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|
PTPRQ |
https://ghr.nlm.nih.gov/gene/PTPRQ |
db |
key |
|
|
|
|
|
|
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|
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|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
602459 |
|
|
|
|
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|
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|
RDX |
https://ghr.nlm.nih.gov/gene/RDX |
db |
key |
|
|
|
|
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|
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|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
603010 |
|
|
|
|
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|
|
RIPOR2 |
https://ghr.nlm.nih.gov/gene/RIPOR2 |
db |
key |
|
|
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|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
603098 |
|
|
|
|
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|
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|
|
SERPINB6 |
https://ghr.nlm.nih.gov/gene/SERPINB6 |
db |
key |
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
603629 |
|
|
|
|
|
|
|
|
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|
|
|
SLC17A8 |
https://ghr.nlm.nih.gov/gene/SLC17A8 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
603720 |
|
|
|
|
|
|
|
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|
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|
|
|
|
SLC26A4 |
https://ghr.nlm.nih.gov/gene/SLC26A4 |
db |
key |
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
604060 |
|
|
|
|
|
|
|
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|
|
|
|
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|
|
|
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|
|
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|
|
|
|
|
|
|
|
SLC26A5 |
https://ghr.nlm.nih.gov/gene/SLC26A5 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
604717 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
SMPX |
https://ghr.nlm.nih.gov/gene/SMPX |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
605192 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
STRC |
https://ghr.nlm.nih.gov/gene/STRC |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
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|
|
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|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
606346 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
SYNE4 |
https://ghr.nlm.nih.gov/gene/SYNE4 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
606705 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
TBC1D24 |
https://ghr.nlm.nih.gov/gene/TBC1D24 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
607084 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
TECTA |
https://ghr.nlm.nih.gov/gene/TECTA |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
607197 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
TJP2 |
https://ghr.nlm.nih.gov/gene/TJP2 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
607239 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
TMC1 |
https://ghr.nlm.nih.gov/gene/TMC1 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
607683 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
TMEM132E |
https://ghr.nlm.nih.gov/gene/TMEM132E |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
607821 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
TMIE |
https://ghr.nlm.nih.gov/gene/TMIE |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
607841 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
TMPRSS3 |
https://ghr.nlm.nih.gov/gene/TMPRSS3 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
608394 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
TNC |
https://ghr.nlm.nih.gov/gene/TNC |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
609006 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
TPRN |
https://ghr.nlm.nih.gov/gene/TPRN |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
609823 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
TRIOBP |
https://ghr.nlm.nih.gov/gene/TRIOBP |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
610265 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
TSPEAR |
https://ghr.nlm.nih.gov/gene/TSPEAR |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
Orphanet |
87884 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
USH1C |
https://ghr.nlm.nih.gov/gene/USH1C |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
SNOMED CT |
343087000 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
WFS1 |
https://ghr.nlm.nih.gov/gene/WFS1 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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related-gene |
gene-symbol |
ghr-page |
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SNOMED CT |
44057004 |
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WHRN |
https://ghr.nlm.nih.gov/gene/WHRN |
db |
key |
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related-mitochondrial-dna |
name |
ghr-page |
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SNOMED CT |
48758008 |
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mitochondrial DNA |
https://ghr.nlm.nih.gov/mitochondrial-dna |
db |
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SNOMED CT |
60700002 |
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SNOMED CT |
8531006 |
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SNOMED CT |
95820000 |
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related-gene-list |
|
SNOMED CT |
95821001 |
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Nonsyndromic holoprosencephaly |
https://ghr.nlm.nih.gov/condition/nonsyndromic-holoprosencephaly |
Nonsyndromic holoprosencephaly accounts for approximately 25 to 50 percent |
html:p |
Nonsyndromic holoprosencephaly is an abnormality of brain development that also |
ad |
autosomal dominant |
DISP1 |
https://ghr.nlm.nih.gov/gene/DISP1 |
holoprosencephaly sequence |
db |
key |
2010-09 |
2017-12-29 |
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of all cases of holoprosencephaly, which affects an estimated 1 in 10,000 |
affects the head and face. Normally, the brain divides into two halves |
related-gene |
gene-symbol |
ghr-page |
isolated holoprosencephaly |
GTR |
C0079541 |
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newborns. |
(hemispheres) during early development. Holoprosencephaly occurs when the brain |
FGF8 |
https://ghr.nlm.nih.gov/gene/FGF8 |
isolated HPE |
db |
key |
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fails to divide properly into the right and left hemispheres. This condition is |
related-gene |
gene-symbol |
ghr-page |
non-syndromic, non-chromosomal holoprosencephaly |
GTR |
C1834877 |
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called nonsyndromic to distinguish it from other types of holoprosencephaly |
FOXH1 |
https://ghr.nlm.nih.gov/gene/FOXH1 |
non-syndromic, non-chromosomal HPE |
db |
key |
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caused by genetic syndromes, chromosome abnormalities, or substances that cause |
related-gene |
gene-symbol |
ghr-page |
nonsyndromic HPE |
GTR |
C1835819 |
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birth defects (teratogens). The severity of nonsyndromic holoprosencephaly |
GLI2 |
https://ghr.nlm.nih.gov/gene/GLI2 |
db |
key |
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varies widely among affected individuals, even within the same family. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1835820 |
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html:p |
Nonsyndromic holoprosencephaly can be grouped into four types according to the |
NODAL |
https://ghr.nlm.nih.gov/gene/NODAL |
db |
key |
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degree of brain division. From most to least severe, the types are known as |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1836254 |
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alobar, semi-lobar, lobar, and middle interhemispheric variant (MIHV). In the |
PTCH1 |
https://ghr.nlm.nih.gov/gene/PTCH1 |
db |
key |
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most severe forms of nonsyndromic holoprosencephaly, the brain does not divide |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1840528 |
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at all. These affected individuals have one central eye (cyclopia) and a tubular |
SHH |
https://ghr.nlm.nih.gov/gene/SHH |
db |
key |
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nasal structure (proboscis) located above the eye. Most babies with severe |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1840529 |
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nonsyndromic holoprosencephaly die before birth or soon after. In the less |
SIX3 |
https://ghr.nlm.nih.gov/gene/SIX3 |
db |
key |
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severe forms, the brain is partially divided and the eyes are usually set close |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1853830 |
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together (hypotelorism). The life expectancy of these affected individuals |
TDGF1 |
https://ghr.nlm.nih.gov/gene/TDGF1 |
db |
key |
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varies depending on the severity of symptoms. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1856096 |
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html:p |
People with nonsyndromic holoprosencephaly often have a small head |
TGIF1 |
https://ghr.nlm.nih.gov/gene/TGIF1 |
db |
key |
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(microcephaly), although they can develop a buildup of fluid in the brain |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1864827 |
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(hydrocephalus) that causes increased head size (macrocephaly). Other features |
ZIC2 |
https://ghr.nlm.nih.gov/gene/ZIC2 |
db |
key |
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may include an opening in the roof of the mouth (cleft palate) with or without a |
GTR |
C2675857 |
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split in the upper lip (cleft lip), one central front tooth instead of two (a |
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db |
key |
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single maxillary central incisor), and a flat nasal bridge. The eyeballs may be |
GTR |
CN120371 |
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abnormally small (microphthalmia小眼畸形) or absent (anophthalmia). |
db |
key |
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html:p |
Some individuals with nonsyndromic holoprosencephaly have a distinctive pattern |
GeneReviews |
hpe-overview |
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of facial features, including a narrowing of the head at the temples, outside |
db |
key |
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corners of the eyes that point upward (upslanting palpebral fissures), large |
ICD-10-CM |
Q04.2 |
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ears, a short nose with upturned nostrils, and a broad and deep space between |
db |
key |
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the nose and mouth (philtrum). In general, the severity of facial features is |
MeSH |
D016142 |
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directly related to the severity of the brain abnormalities. However, |
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db |
key |
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individuals with mildly affected facial features can have severe brain |
|
OMIM |
142945 |
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abnormalities. Some people do not have apparent structural brain abnormalities |
db |
key |
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but have some of the facial features associated with this condition. These |
OMIM |
142946 |
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individuals are considered to have a form of the disorder known as microform |
db |
key |
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holoprosencephaly and are typically identified after the birth of a severely |
OMIM |
157170 |
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affected family member. |
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db |
key |
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html:p |
Most people with nonsyndromic holoprosencephaly have developmental delay and |
OMIM |
236100 |
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intellectual disability. Affected individuals also frequently have a |
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db |
key |
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malfunctioning pituitary gland, which is a gland located at the base of the |
OMIM |
605934 |
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brain that produces several hormones. Because pituitary dysfunction leads to the |
db |
key |
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partial or complete absence of these hormones, it can cause a variety of |
|
OMIM |
609408 |
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disorders. Most commonly, people with nonsyndromic holoprosencephaly and |
db |
key |
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pituitary dysfunction develop diabetes insipidus, a condition that disrupts the |
OMIM |
609637 |
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balance between fluid intake and urine excretion. Dysfunction in other parts of |
db |
key |
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the brain can cause seizures, feeding difficulties, and problems regulating body |
OMIM |
610828 |
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temperature, heart rate, and breathing. The sense of smell may be diminished |
db |
key |
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(hyposmia) or completely absent (anosmia) if the part of the brain that |
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OMIM |
610829 |
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processes smells is underdeveloped or missing. |
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db |
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Orphanet |
2162 |
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db |
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SNOMED CT |
253136007 |
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SNOMED CT |
253137003 |
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SNOMED CT |
253138008 |
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related-gene-list |
|
SNOMED CT |
30915001 |
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Nonsyndromic paraganglioma |
https://ghr.nlm.nih.gov/condition/nonsyndromic-paraganglioma |
It is estimated that the prevalence of pheochromocytoma is 1 in 500,000 |
html:p |
Paraganglioma is a type of noncancerous (benign) tumor that occurs in structures |
ad |
autosomal dominant |
KIF1B |
https://ghr.nlm.nih.gov/gene/KIF1B |
chemodectoma |
db |
key |
2011-10 |
2017-12-29 |
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非綜合徵性副神經節瘤 |
people, and the prevalence of other paragangliomas is 1 in 1 million people. |
called paraganglia. Paraganglia are groups of cells that are found near nerve |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0031511 |
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These statistics include syndromic and nonsyndromic paraganglioma and |
cell bunches called ganglia. Paragangliomas are usually found in the head, neck, |
RET |
https://ghr.nlm.nih.gov/gene/RET |
db |
key |
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pheochromocytoma. |
or torso. However, a type of paraganglioma known as pheochromocytoma develops |
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D010235 |
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in the adrenal glands. Adrenal glands are located on top of each kidney and |
SDHA |
https://ghr.nlm.nih.gov/gene/SDHA |
db |
key |
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produce hormones in response to stress. Most people with paraganglioma develop |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
171300 |
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only one tumor in their lifetime. |
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SDHB |
https://ghr.nlm.nih.gov/gene/SDHB |
db |
key |
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html:p |
Some people develop a paraganglioma or pheochromocytoma as part of a hereditary |
related-gene |
gene-symbol |
ghr-page |
|
Orphanet |
717 |
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syndrome that may affect other organs and tissues in the body. However, the |
SDHD |
https://ghr.nlm.nih.gov/gene/SDHD |
db |
key |
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tumors often are not associated with any syndromes, in which case the condition |
related-gene |
gene-symbol |
ghr-page |
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Orphanet |
94080 |
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is called nonsyndromic paraganglioma or pheochromocytoma. |
TMEM127 |
https://ghr.nlm.nih.gov/gene/TMEM127 |
db |
key |
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html:p |
Pheochromocytomas and some other paragangliomas are associated with ganglia of |
related-gene |
gene-symbol |
ghr-page |
|
SNOMED CT |
716857003 |
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the sympathetic nervous system. The sympathetic nervous system controls the |
VHL |
https://ghr.nlm.nih.gov/gene/VHL |
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"fight-or-flight" response, a series of changes in the body due to hormones |
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released in response to stress. Although most sympathetic paragangliomas are |
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pheochromocytomas, some are found outside the adrenal glands, usually in the |
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abdomen, and are called extra-adrenal paragangliomas. Most sympathetic |
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paragangliomas, including pheochromocytomas, produce hormones called |
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catecholamines, such as epinephrine (adrenaline) or norepinephrine. These excess |
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catecholamines can cause signs and symptoms such as high blood pressure |
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(hypertension), episodes of rapid heartbeat (palpitations), headaches, or |
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sweating. |
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html:p |
Most paragangliomas are associated with ganglia of the parasympathetic nervous |
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system, which controls involuntary body functions such as digestion and saliva |
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formation. Parasympathetic paragangliomas, typically found in the head and neck, |
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usually do not produce hormones. However, large tumors may cause signs and |
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symptoms such as coughing, hearing loss in one ear, or difficulty swallowing. |
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html:p |
Although most paragangliomas and pheochromocytomas are noncancerous, some can |
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become cancerous (malignant) and spread to other parts of the body |
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(metastasize). Extra-adrenal paragangliomas become malignant more often than |
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other types of paraganglioma or pheochromocytoma. |
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related-gene-list |
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Noonan syndrome |
https://ghr.nlm.nih.gov/condition/noonan-syndrome |
Noonan syndrome occurs in approximately 1 in 1,000 to 2,500 people. |
html:p |
Noonan syndrome is a condition that affects many areas of the body. It is |
ad |
autosomal dominant |
A2ML1 |
https://ghr.nlm.nih.gov/gene/A2ML1 |
familial Turner syndrome |
db |
key |
2016-05 |
2017-12-29 |
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努南氏症候群 |
|
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characterized by mildly unusual facial features, short stature, heart defects, |
related-gene |
gene-symbol |
ghr-page |
female pseudo-Turner syndrome |
GTR |
C0028326 |
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bleeding problems, skeletal malformations, and many other signs and symptoms. |
BRAF |
https://ghr.nlm.nih.gov/gene/BRAF |
male Turner syndrome |
db |
key |
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html:p |
People with Noonan syndrome have distinctive facial features such as a deep |
related-gene |
gene-symbol |
ghr-page |
Noonan-Ehmke syndrome |
GTR |
C0041409 |
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groove in the area between the nose and mouth (philtrum), widely spaced eyes |
KRAS |
https://ghr.nlm.nih.gov/gene/KRAS |
Noonan's syndrome |
db |
key |
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that are usually pale blue or blue-green in color, and low-set ears that are |
related-gene |
gene-symbol |
ghr-page |
NS |
GTR |
C1853120 |
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rotated backward. Affected individuals may have a high arch in the roof of the |
LZTR1 |
https://ghr.nlm.nih.gov/gene/LZTR1 |
pseudo-Ullrich-Turner syndrome |
db |
key |
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mouth (high-arched palate), poor teeth alignment, and a small lower jaw |
related-gene |
gene-symbol |
ghr-page |
Turner-like syndrome |
GTR |
C1854469 |
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(micrognathia). Many children with Noonan syndrome have a short neck, and both |
MAP2K1 |
https://ghr.nlm.nih.gov/gene/MAP2K1 |
Turner phenotype with normal karyotype |
db |
key |
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children and adults may have excess neck skin (also called webbing) and a low |
related-gene |
gene-symbol |
ghr-page |
Turner syndrome in female with X chromosome |
GTR |
C1860991 |
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hairline at the back of the neck. |
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NRAS |
https://ghr.nlm.nih.gov/gene/NRAS |
Ullrich-Noonan syndrome |
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html:p |
Between 50 and 70 percent of individuals with Noonan syndrome have short |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1969057 |
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stature. At birth, they are usually a normal length and weight, but growth slows |
PTPN11 |
https://ghr.nlm.nih.gov/gene/PTPN11 |
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over time. Abnormal levels of growth hormone, a protein that is necessary for |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2750732 |
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the normal growth of the body's bones and tissues, may contribute to the slow |
RAF1 |
https://ghr.nlm.nih.gov/gene/RAF1 |
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growth. |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C3150970 |
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html:p |
Individuals with Noonan syndrome often have either a sunken chest (pectus |
RASA2 |
https://ghr.nlm.nih.gov/gene/RASA2 |
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excavatum) or a protruding chest (pectus carinatum). Some affected people may |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3809233 |
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also have an abnormal side-to-side curvature of the spine (scoliosis). |
RIT1 |
https://ghr.nlm.nih.gov/gene/RIT1 |
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html:p |
Most people with Noonan syndrome have some form of critical congenital heart |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C4225280 |
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disease. The most common heart defect in these individuals is a narrowing of the |
RRAS |
https://ghr.nlm.nih.gov/gene/RRAS |
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valve that controls blood flow from the heart to the lungs (pulmonary valve |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C4225282 |
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stenosis). Some have hypertrophic cardiomyopathy, which enlarges and weakens the |
SOS1 |
https://ghr.nlm.nih.gov/gene/SOS1 |
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heart muscle. |
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related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
noonan |
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html:p |
A variety of bleeding disorders have been associated with Noonan syndrome. Some |
SOS2 |
https://ghr.nlm.nih.gov/gene/SOS2 |
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affected individuals have excessive bruising, nosebleeds, or prolonged bleeding |
ICD-10-CM |
Q87.1 |
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following injury or surgery. Rarely, women with Noonan syndrome who have a |
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bleeding disorder have excessive bleeding during menstruation (menorrhagia) or |
MeSH |
D009634 |
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childbirth. |
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html:p |
Adolescent males with Noonan syndrome typically experience delayed puberty. They |
OMIM |
163950 |
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go through puberty starting at age 13 or 14 and have a reduced pubertal growth |
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spurt that results in shortened stature. Most males with Noonan syndrome have |
OMIM |
605275 |
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undescended testes (cryptorchidism), which may contribute to infertility |
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(inability to father a child) later in life. Females with Noonan syndrome can |
OMIM |
609942 |
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experience delayed puberty but most have normal puberty and fertility. |
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html:p |
Noonan syndrome can cause a variety of other signs and symptoms. Most children |
OMIM |
610733 |
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diagnosed with Noonan syndrome have normal intelligence, but a few have special |
db |
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educational needs, and some have intellectual disability. Some affected |
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OMIM |
611553 |
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individuals have vision or hearing problems. Affected infants may have feeding |
db |
key |
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problems, which typically get better by age 1 or 2 years. Infants with Noonan |
OMIM |
613224 |
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syndrome may be born with puffy hands and feet caused by a buildup of fluid |
db |
key |
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(lymphedema), which can go away on its own. Older individuals can also develop |
OMIM |
613706 |
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lymphedema, usually in the ankles and lower legs. |
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db |
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html:p |
Some people with Noonan syndrome develop cancer, particularly those involving |
OMIM |
615355 |
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the blood-forming cells (leukemia). It has been estimated that children with |
db |
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Noonan syndrome have an eightfold increased risk of developing leukemia or other |
OMIM |
616559 |
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cancers over age-matched peers. |
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html:p |
Noonan syndrome is one of a group of related conditions, collectively known as |
OMIM |
616564 |
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RASopathies. These conditions all have similar signs and symptoms and are caused |
db |
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by changes in the same cell signaling pathway. In addition to Noonan syndrome, |
Orphanet |
648 |
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the RASopathies include cardiofaciocutaneous syndrome, Costello syndrome, |
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neurofibromatosis type 1, Legius syndrome, and Noonan syndrome with multiple |
SNOMED CT |
205824006 |
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lentigines. |
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related-gene-list |
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Noonan syndrome with multiple lentigines |
https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines |
Noonan syndrome with multiple lentigines is thought to be a rare condition; |
html:p |
Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome) is a |
ad |
autosomal dominant |
BRAF |
https://ghr.nlm.nih.gov/gene/BRAF |
cardio-cutaneous syndrome |
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2016-06 |
2017-12-29 |
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LEOPARD Syndrome |
approximately 200 cases have been reported worldwide. |
condition that affects many areas of the body. As the condition name suggests, |
related-gene |
gene-symbol |
ghr-page |
cardiomyopathic lentiginosis |
GTR |
C0175704 |
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LEOPARD 症候群 |
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Noonan syndrome with multiple lentigines is very similar to a condition called |
MAP2K1 |
https://ghr.nlm.nih.gov/gene/MAP2K1 |
diffuse lentiginosis |
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Noonan syndrome, and it can be difficult to tell the two disorders apart in |
related-gene |
gene-symbol |
ghr-page |
lentiginosis profusa |
GTR |
C1969056 |
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early childhood. However, the features of these two conditions differ later in |
PTPN11 |
https://ghr.nlm.nih.gov/gene/PTPN11 |
LEOPARD syndrome |
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life. The characteristic features of Noonan syndrome with multiple lentigines |
related-gene |
gene-symbol |
ghr-page |
Moynahan syndrome |
GTR |
C3150971 |
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include brown skin spots called lentigines that are similar to freckles, heart |
RAF1 |
https://ghr.nlm.nih.gov/gene/RAF1 |
multiple lentigines syndrome |
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defects, widely spaced eyes (ocular hypertelorism), a sunken chest (pectus |
NSML |
GTR |
CN074218 |
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excavatum) or protruding chest (pectus carinatum), and short stature. These |
progressive cardiomyopathic lentiginosis |
db |
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features vary, however, even among affected individuals in the same family. Not |
GeneReviews |
leopard |
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all individuals with Noonan syndrome with multiple lentigines have all the |
db |
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characteristic features of this condition. |
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MeSH |
D044542 |
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html:p |
The lentigines seen in Noonan syndrome with multiple lentigines typically first |
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appear in mid-childhood, mostly on the face, neck, and upper body. Affected |
OMIM |
151100 |
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individuals may have thousands of small dark brown skin spots by the time they |
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reach puberty. Unlike freckles, the appearance of lentigines has nothing to do |
OMIM |
611554 |
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with sun exposure. In addition to lentigines, people with this condition may |
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have lighter brown skin spots called café-au-lait spots. Café-au-lait spots tend |
OMIM |
613707 |
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to develop before the lentigines, appearing within the first year of life in |
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most affected people. |
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Orphanet |
500 |
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html:p |
Of the people with Noonan syndrome with multiple lentigines who have heart |
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defects, about 80 percent have hypertrophic cardiomyopathy, which is a |
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SNOMED CT |
111306001 |
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thickening of the heart muscle that forces the heart to work harder to pump |
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blood. The hypertrophic cardiomyopathy most often affects the lower left chamber |
SNOMED CT |
45167004 |
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of the heart (the left ventricle). Up to 20 percent of people with Noonan |
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syndrome with multiple lentigines who have heart problems have a narrowing of |
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the artery from the heart to the lungs (pulmonary stenosis). |
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html:p |
People with Noonan syndrome with multiple lentigines can have a distinctive |
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facial appearance. In addition to ocular hypertelorism, affected individuals may |
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have droopy eyelids (ptosis), thick lips, and low-set ears. Affected |
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individuals also usually have an abnormal appearance of the chest; they either |
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have pectus excavatum or pectus carinatum. |
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html:p |
At birth, people with Noonan syndrome with multiple lentigines are typically of |
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normal weight and height, but in some, growth slows over time. This slow growth |
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results in affected individuals being shorter than average, although less than |
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half of people with Noonan syndrome with multiple lentigines have significantly |
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short stature. |
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html:p |
Other signs and symptoms of Noonan syndrome with multiple lentigines include |
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hearing loss caused by abnormalities in the inner ear (sensorineural deafness), |
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mild intellectual disability, and extra folds of skin on the back of the neck. |
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Affected males often have genital abnormalities, which can include undescended |
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testes (cryptorchidism) and a urethra that opens on the underside of the penis |
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(hypospadias). These abnormalities may reduce the ability to have biological |
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children (decreased fertility). Females with Noonan syndrome with multiple |
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lentigines may have poorly developed ovaries and delayed puberty. |
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html:p |
Noonan syndrome with multiple lentigines is one of a group of related conditions |
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collectively known as RASopathies. These conditions all have similar signs and |
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symptoms and are caused by changes in the same cell signaling pathway. In |
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addition to Noonan syndrome with multiple lentigines, the RASopathies include |
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Noonan syndrome, cardiofaciocutaneous syndrome, Costello syndrome, |
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neurofibromatosis type 1, and Legius syndrome. |
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related-gene-list |
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Norrie disease |
https://ghr.nlm.nih.gov/condition/norrie-disease |
Norrie disease is a rare disorder; its exact incidence is unknown. It is |
html:p |
Norrie disease is an inherited eye disorder that leads to blindness in male |
xr |
X-linked recessive |
NDP |
https://ghr.nlm.nih.gov/gene/NDP |
Anderson-Warburg syndrome |
db |
key |
2007-03 |
2017-12-29 |
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諾里氏病 |
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not associated with any specific racial or ethnic group. |
infants at birth or soon after birth. It causes abnormal development of the |
Atrophia bulborum hereditaria |
GTR |
C0266526 |
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(Eyes) |
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retina, the layer of sensory cells that detect light and color, with masses of |
congenital progressive oculo-acoustico-cerebral degeneration |
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immature retinal cells accumulating at the back of the eye. As a result, the |
Episkopi blindness |
GeneReviews |
norrie |
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pupils appear white when light is shone on them, a sign called leukocoria. The |
Fetal iritis syndrome |
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irises (colored portions of the eyes) or the entire eyeballs may shrink and |
Norrie syndrome |
MeSH |
D015785 |
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deteriorate during the first months of life, and cataracts (cloudiness in the |
Norrie-Warburg syndrome |
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lens of the eye) may eventually develop. |
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Norrie's disease |
OMIM |
310600 |
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html:p |
About one third of individuals with Norrie disease develop progressive hearing |
Oligophrenia microphthalmus |
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loss, and more than half experience developmental delays in motor skills such as |
pseudoglioma congenita |
Orphanet |
649 |
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sitting up and walking. Other problems may include mild to moderate |
Whitnall-Norman syndrome |
db |
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intellectual disability, often with psychosis, and abnormalities that can affect |
SNOMED CT |
15228007 |
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circulation, breathing, digestion, excretion, or reproduction. |
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related-gene-list |
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North American Indian childhood cirrhosis |
https://ghr.nlm.nih.gov/condition/north-american-indian-childhood-cirrhosis |
North American Indian childhood cirrhosis has been found only in children |
html:p |
North American Indian childhood cirrhosis is a rare liver disorder that occurs |
ar |
autosomal recessive |
UTP4 |
https://ghr.nlm.nih.gov/gene/UTP4 |
NAIC |
db |
key |
2011-03 |
2017-12-29 |
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of Ojibway-Cree descent in the Abitibi region of northwestern Quebec, Canada. At |
in children. The liver malfunction causes yellowing of the skin and whites of |
GTR |
C1858051 |
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least 30 affected individuals from this population have been reported. |
the eyes (jaundice) in affected infants. The disorder worsens with age, |
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progressively damaging the liver and leading to chronic, irreversible liver |
|
MeSH |
D008103 |
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disease (cirrhosis) in childhood or adolescence. Unless it is treated with liver |
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transplantation, North American Indian childhood cirrhosis typically causes |
OMIM |
604901 |
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life-threatening complications including liver failure. |
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Orphanet |
168583 |
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related-gene-list |
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SNOMED CT |
699189004 |
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Ochoa syndrome |
https://ghr.nlm.nih.gov/condition/ochoa-syndrome |
Ochoa syndrome is a rare disorder. About 150 cases have been reported in |
html:p |
Ochoa syndrome is a disorder characterized by urinary problems and unusual |
ar |
autosomal recessive |
HPSE2 |
https://ghr.nlm.nih.gov/gene/HPSE2 |
hydronephrosis-inverted smile |
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2012-03 |
2017-12-29 |
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奧喬亞綜合症 |
the medical literature. |
facial expressions. |
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hydronephrosis with peculiar facial expression |
GTR |
C0403555 |
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html:p |
The urinary problems associated with Ochoa syndrome typically become apparent in |
inverted smile and occult neuropathic bladder |
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early childhood or adolescence. People with this disorder may have difficulty |
inverted smile-neurogenic bladder |
GeneReviews |
urofacial |
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controlling the flow of urine (incontinence), which can lead to bedwetting. |
partial facial palsy with urinary abnormalities |
db |
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Individuals with Ochoa syndrome may be unable to completely empty the bladder, |
UFS |
MeSH |
D000015 |
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often resulting in vesicoureteral reflux, a condition in which urine backs up |
urofacial Ochoa's syndrome |
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into the ducts that normally carry it from each kidney to the bladder (the |
urofacial syndrome |
OMIM |
236730 |
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ureters). Urine may also accumulate in the kidneys (hydronephrosis). |
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Vesicoureteral reflux and hydronephrosis can lead to frequent infections of the |
Orphanet |
2704 |
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urinary tract and kidney inflammation (pyelonephritis), causing damage that may |
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eventually result in kidney failure. |
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SNOMED CT |
236533008 |
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html:p |
Individuals with Ochoa syndrome also exhibit a characteristic frown-like facial |
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grimace when they try to smile or laugh, often described as inversion of facial |
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expression. While this feature may appear earlier than the urinary tract |
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symptoms, perhaps as early as an infant begins to smile, it is often not brought |
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to medical attention. |
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html:p |
Approximately two-thirds of individuals with Ochoa syndrome also experience |
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problems with bowel function, such as constipation, loss of bowel control, or |
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muscle spasms of the anus. |
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related-gene-list |
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Ocular albinism |
https://ghr.nlm.nih.gov/condition/ocular-albinism |
The most common form of this disorder, ocular albinism type 1, affects at |
html:p |
Ocular albinism is a genetic condition that primarily affects the eyes. This |
ad |
autosomal dominant |
GPR143 |
https://ghr.nlm.nih.gov/gene/GPR143 |
albinism, ocular |
db |
key |
2017-11 |
2017-12-29 |
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眼白化 |
|
least 1 in 60,000 males. The classic signs and symptoms of this condition are |
condition reduces the coloring (pigmentation) of the iris, which is the colored |
code |
memo |
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OA |
GTR |
C0268505 |
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(Visual) |
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much less common in females. |
part of the eye, and the retina, which is the light-sensitive tissue at the back |
ar |
autosomal recessive |
|
XLOA |
db |
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of the eye. Pigmentation in the eye is essential for normal vision. |
code |
memo |
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GTR |
C0342684 |
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html:p |
Ocular albinism is characterized by severely impaired sharpness of vision |
xd |
X-linked dominant |
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(visual acuity) and problems with combining vision from both eyes to perceive |
GTR |
C1845069 |
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depth (stereoscopic vision). Although the vision loss is permanent, it does not |
db |
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worsen over time. Other eye abnormalities associated with this condition include |
GTR |
C1863198 |
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rapid, involuntary eye movements (nystagmus); eyes that do not look in the same |
db |
key |
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direction (strabismus); and increased sensitivity to light (photophobia). Many |
GeneReviews |
x-oa |
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affected individuals also have abnormalities involving the optic nerves, which |
db |
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carry visual information from the eye to the brain. |
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ICD-10-CM |
E70.31 |
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html:p |
Unlike some other forms of albinism, ocular albinism does not significantly |
db |
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affect the color of the skin and hair. People with this condition may have a |
ICD-10-CM |
E70.310 |
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somewhat lighter complexion than other members of their family, but these |
db |
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differences are usually minor. |
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ICD-10-CM |
E70.311 |
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html:p |
The most common form of ocular albinism is known as the Nettleship-Falls type or |
db |
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type 1. Other forms of ocular albinism are much rarer and may be associated |
ICD-10-CM |
E70.318 |
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with additional signs and symptoms, such as hearing loss. |
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ICD-10-CM |
E70.319 |
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db |
key |
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MeSH |
D016117 |
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db |
key |
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OMIM |
103470 |
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db |
key |
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OMIM |
300500 |
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db |
key |
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OMIM |
300650 |
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db |
key |
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Orphanet |
54 |
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db |
key |
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Orphanet |
284804 |
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SNOMED CT |
26399002 |
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related-gene-list |
|
SNOMED CT |
78642008 |
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Oculocutaneous albinism |
https://ghr.nlm.nih.gov/condition/oculocutaneous-albinism |
Overall, an estimated 1 in 20,000 people worldwide are born with |
html:p |
Oculocutaneous albinism is a group of conditions that affect coloring |
ar |
autosomal recessive |
LRMDA |
https://ghr.nlm.nih.gov/gene/LRMDA |
albinism, oculocutaneous |
db |
key |
2015-10 |
2017-12-29 |
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眼皮膚白化症 |
oculocutaneous albinism. The condition affects people in many ethnic groups and |
(pigmentation) of the skin, hair, and eyes. Affected individuals typically have |
related-gene |
gene-symbol |
ghr-page |
OCA |
GTR |
C0078918 |
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geographical regions. Types 1 and 2 are the most common forms of this |
very fair skin and white or light-colored hair. Long-term sun exposure greatly |
MC1R |
https://ghr.nlm.nih.gov/gene/MC1R |
db |
key |
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condition; types 3 and 4 are less common. Type 2 occurs more frequently in |
increases the risk of skin damage and skin cancers, including an aggressive |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0268494 |
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African Americans, some Native American groups, and people from sub-Saharan |
form of skin cancer called melanoma, in people with this condition. |
OCA2 |
https://ghr.nlm.nih.gov/gene/OCA2 |
db |
key |
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Africa. Type 3, specifically rufous oculocutaneous albinism, has been described |
Oculocutaneous albinism also reduces pigmentation of the colored part of the eye |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0268495 |
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primarily in people from southern Africa. Studies suggest that type 4 occurs |
(the iris) and the light-sensitive tissue at the back of the eye (the retina). |
SLC24A5 |
https://ghr.nlm.nih.gov/gene/SLC24A5 |
db |
key |
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more frequently in the Japanese and Korean populations than in people from other |
People with this condition usually have vision problems such as reduced |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1847024 |
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parts of the world. |
sharpness; rapid, involuntary eye movements (nystagmus); and increased |
SLC45A2 |
https://ghr.nlm.nih.gov/gene/SLC45A2 |
db |
key |
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sensitivity to light (photophobia). |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1847836 |
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html:p |
Researchers have identified multiple types of oculocutaneous albinism, which are |
TYR |
https://ghr.nlm.nih.gov/gene/TYR |
db |
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distinguished by their specific skin, hair, and eye color changes and by their |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1859932 |
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genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, |
TYRP1 |
https://ghr.nlm.nih.gov/gene/TYRP1 |
db |
key |
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very pale skin, and light-colored irises. Type 2 is typically less severe than |
GTR |
C3808786 |
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type 1; the skin is usually a creamy white color and hair may be light yellow, |
db |
key |
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blond, or light brown. Type 3 includes a form of albinism called rufous |
|
GTR |
C3888401 |
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oculocutaneous albinism, which usually affects dark-skinned people. Affected |
db |
key |
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individuals have reddish-brown skin, ginger or red hair, and hazel or brown |
GTR |
CN119529 |
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irises. Type 3 is often associated with milder vision abnormalities than the |
db |
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other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to |
GeneReviews |
oca1 |
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those seen with type 2. |
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db |
key |
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html:p |
Several additional types of this disorder have been proposed, each affecting one |
GeneReviews |
oca2 |
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or a few families. |
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db |
key |
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GeneReviews |
oca4 |
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db |
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ICD-10-CM |
E70.32 |
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db |
key |
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ICD-10-CM |
E70.320 |
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db |
key |
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ICD-10-CM |
E70.321 |
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db |
key |
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ICD-10-CM |
E70.328 |
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db |
key |
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ICD-10-CM |
E70.329 |
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db |
key |
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MeSH |
D016115 |
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db |
key |
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OMIM |
113750 |
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db |
key |
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OMIM |
203100 |
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db |
key |
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OMIM |
203200 |
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db |
key |
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OMIM |
203290 |
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db |
key |
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OMIM |
606574 |
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db |
key |
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OMIM |
606952 |
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db |
key |
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OMIM |
615179 |
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db |
key |
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OMIM |
615312 |
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db |
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Orphanet |
55 |
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db |
key |
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SNOMED CT |
11160000 |
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db |
key |
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SNOMED CT |
26336006 |
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db |
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SNOMED CT |
63450009 |
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db |
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SNOMED CT |
63844009 |
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db |
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related-gene-list |
|
SNOMED CT |
6483008 |
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Oculodentodigital dysplasia |
https://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia |
The exact incidence of oculodentodigital dysplasia is unknown. It has been |
html:p |
Oculodentodigital dysplasia is a condition that affects many parts of the body, |
ad |
autosomal dominant |
GJA1 |
https://ghr.nlm.nih.gov/gene/GJA1 |
oculo-dento-digital dysplasia |
db |
key |
2009-02 |
2017-12-29 |
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眼牙指發育不良 |
diagnosed in fewer than 1,000 people worldwide. More cases are likely |
particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common |
code |
memo |
|
|
|
oculo-dento-osseous dysplasia |
GTR |
C0812437 |
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undiagnosed. |
features in people with this condition are small eyes (microphthalmia) and other |
ar |
autosomal recessive |
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oculodentodigital syndrome |
db |
key |
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eye abnormalities that can lead to vision loss. Affected individuals also |
oculodentoosseous dysplasia |
MeSH |
D004476 |
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frequently have tooth abnormalities, such as small or missing teeth, weak |
ODD syndrome |
db |
key |
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enamel, multiple cavities, and early tooth loss. Other common features of this |
ODDD |
OMIM |
164200 |
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condition include a thin nose and webbing of the skin (syndactyly) between the |
ODOD |
db |
key |
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fourth and fifth fingers. |
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osseous-oculo-dental dysplasia |
Orphanet |
2710 |
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html:p |
Less common features of oculodentodigital dysplasia include sparse hair growth |
db |
key |
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(hypotrichosis), brittle nails, an unusual curvature of the fingers |
|
SNOMED CT |
254138001 |
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(camptodactyly), syndactyly of the toes, small head size (microcephaly), and an |
db |
key |
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opening in the roof of the mouth (cleft palate). Some affected individuals |
|
SNOMED CT |
254139009 |
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experience neurological problems such as a lack of bladder or bowel control, |
db |
key |
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difficulty coordinating movements (ataxia), abnormal muscle stiffness |
|
SNOMED CT |
38215007 |
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(spasticity), hearing loss, and impaired speech (dysarthria). A few people with |
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oculodentodigital dysplasia also have a skin condition called palmoplantar |
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keratoderma. Palmoplantar keratoderma causes the skin on the palms and the |
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soles of the feet to become thick, scaly, and calloused. |
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html:p |
Some features of oculodentodigital dysplasia are evident at birth, while others |
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become apparent with age. |
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related-gene-list |
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Oculofaciocardiodental syndrome |
https://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome |
OFCD syndrome is very rare; the incidence is estimated to be less than 1 in |
html:p |
Oculofaciocardiodental (OFCD) syndrome is a condition that affects the |
xd |
X-linked dominant |
BCOR |
https://ghr.nlm.nih.gov/gene/BCOR |
MCOPS2 |
db |
key |
2008-05 |
2017-12-29 |
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眼面心牙綜合症 |
1 million people. |
development of the eyes (oculo-), facial features (facio-), heart (cardio-) and |
Microphthalmia, cataracts, radiculomegaly, and septal heart defects |
GTR |
C1846265 |
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teeth (dental). This condition occurs only in females. |
|
Microphthalmia, syndromic 2 |
db |
key |
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html:p |
The eye abnormalities associated with OFCD syndrome can affect one or both eyes. |
Oculo-facio-cardio-dental syndrome |
MeSH |
D008850 |
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Many people with this condition are born with eyeballs that are abnormally |
OFCD syndrome |
db |
key |
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small (microphthalmia). Other eye problems can include clouding of the lens |
MeSH |
D015785 |
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(cataract) and a higher risk of glaucoma, an eye disease that increases the |
db |
key |
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pressure in the eye. These abnormalities can lead to vision loss or blindness. |
OMIM |
300166 |
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html:p |
People with OFCD syndrome often have a long, narrow face with distinctive facial |
db |
key |
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features, including deep-set eyes and a broad nasal tip that is divided by a |
Orphanet |
2712 |
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cleft. Some affected people have an opening in the roof of the mouth called a |
db |
key |
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cleft palate. |
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SNOMED CT |
699300009 |
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html:p |
Heart defects are another common feature of OFCD syndrome. Babies with this |
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condition may be born with a hole between two chambers of the heart (an atrial |
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or ventricular septal defect) or a leak in one of the valves that controls blood |
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flow through the heart (mitral valve prolapse). |
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html:p |
Teeth with very large roots (radiculomegaly) are characteristic of OFCD |
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syndrome. Additional dental abnormalities can include delayed loss of primary |
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(baby) teeth, missing or abnormally small teeth, misaligned teeth, and defective |
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tooth enamel. |
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related-gene-list |
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Oculopharyngeal muscular dystrophy, OPMD |
https://ghr.nlm.nih.gov/condition/oculopharyngeal-muscular-dystrophy |
In Europe, the prevalence of oculopharyngeal muscular dystrophy is |
html:p |
Oculopharyngeal muscular dystrophy is a genetic condition characterized by |
ad |
autosomal dominant |
PABPN1 |
https://ghr.nlm.nih.gov/gene/PABPN1 |
Muscular Dystrophy, Oculopharyngeal |
db |
key |
2008-12 |
2017-12-29 |
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眼咽型肌營養不良症 |
estimated to be 1 in 100,000 people. The autosomal dominant form of this |
muscle weakness that begins in adulthood, typically after age 40. The first |
code |
memo |
|
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Oculopharyngeal dystrophy |
GTR |
C0270952 |
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condition is much more common in the French-Canadian population of the Canadian |
symptom in people with this disorder is usually droopy eyelids (ptosis), |
ar |
autosomal recessive |
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OPMD |
db |
key |
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province of Quebec, where it is estimated to affect 1 in 1,000 individuals. |
followed by difficulty swallowing (dysphagia). The swallowing difficulties |
Progressive muscular dystrophy, oculopharyngeal type |
GeneReviews |
opmd |
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Autosomal dominant oculopharyngeal muscular dystrophy is also seen more |
begin with food, but as the condition progresses, liquids can be difficult to |
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frequently in the Bukharan (Central Asian) Jewish population of Israel, |
swallow as well. Many people with this condition have weakness and wasting |
ICD-10-CM |
G71.0 |
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affecting 1 in 600 people.The autosomal recessive form of this condition is very |
(atrophy) of the tongue. These problems with food intake may cause |
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rare; only a few cases of autosomal recessive oculopharyngeal muscular |
malnutrition. Some affected individuals also have weakness in other facial |
MeSH |
D039141 |
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dystrophy have been identified. |
muscles. |
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html:p |
Individuals with oculopharyngeal muscular dystrophy frequently have weakness in |
OMIM |
164300 |
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the muscles near the center of the body (proximal muscles), particularly muscles |
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in the upper legs and hips. The weakness progresses slowly over time, and |
Orphanet |
270 |
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people may need the aid of a cane or a walker. Rarely, affected individuals |
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need wheelchair assistance. |
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SNOMED CT |
77097004 |
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html:p |
There are two types of oculopharyngeal muscular dystrophy, which are |
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distinguished by their pattern of inheritance. They are known as the autosomal |
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dominant and autosomal recessive types. |
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Occult macular dystrophy, OMD |
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隱匿性黃斑部失養症 |
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related-gene-list |
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Ohdo syndrome, Maat-Kievit-Brunner type |
https://ghr.nlm.nih.gov/condition/ohdo-syndrome-maat-kievit-brunner-type |
The Maat-Kievit-Brunner type of Ohdo syndrome is a very rare condition, |
html:p |
The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized |
xr |
X-linked recessive |
MED12 |
https://ghr.nlm.nih.gov/gene/MED12 |
blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type |
db |
key |
2013-04 |
2017-12-29 |
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玛特-给威特-布伦勒型奥杜综合征 |
with only a few affected individuals reported in the medical literature. |
by intellectual disability and distinctive facial features. It has only been |
BMRS, MKB type |
GTR |
C3698541 |
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reported in males. |
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Ohdo syndrome, MKB type |
db |
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html:p |
The intellectual disability associated with this condition varies from mild to |
X-linked Ohdo syndrome |
MeSH |
D000015 |
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severe, and the development of motor skills (such as sitting, standing, and |
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walking) is delayed. Some affected individuals also have behavioral problems. |
OMIM |
300895 |
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html:p |
Distinctive facial features often seen in this condition include a narrowing of |
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the eye opening (blepharophimosis), droopy eyelids (ptosis), prominent cheeks, a |
Orphanet |
293707 |
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broad nasal bridge, a nose with a rounded tip, a large space between the nose |
db |
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and upper lip (a long philtrum), and a narrow mouth. Some affected individuals |
SNOMED CT |
699297004 |
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also have widely set eyes (hypertelorism), an unusually small chin |
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(micrognathia), and small and low-set ears. As people with the condition get |
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older, these facial characteristics become more pronounced and the face becomes |
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more triangular. |
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html:p |
Other possible signs of this condition include dental problems, weak muscle tone |
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(hypotonia), and hearing loss. |
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related-gene-list |
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Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant |
https://ghr.nlm.nih.gov/condition/ohdo-syndrome-say-barber-biesecker-young-simps |
The SBBYS variant of Ohdo syndrome is estimated to occur in fewer than 1 |
html:p |
The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a |
ad |
autosomal dominant |
KAT6B |
https://ghr.nlm.nih.gov/gene/KAT6B |
blepharophimosis and mental retardation syndrome, |
db |
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2013-02 |
2017-12-29 |
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on-variant |
per million people. At least 19 cases have been reported in the medical |
rare condition characterized by genital abnormalities in males, missing or |
Say-Barber/Biesecker/Young-Simpson type |
GTR |
C1863557 |
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literature. |
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underdeveloped kneecaps (patellae), intellectual disability, distinctive facial |
blepharophimosis-intellectual deficit syndrome, |
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features, and abnormalities affecting other parts of the body. |
Say-Barber/Biesecker/Young-Simpson type |
GeneReviews |
kat6b-dis |
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html:p |
Males with the SBBYS variant of Ohdo syndrome typically have undescended testes |
BMRS SBBYS |
db |
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(cryptorchidism). Females with this condition have normal genitalia. |
Ohdo syndrome, Say-Barber-Biesecker variant |
MeSH |
D000015 |
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html:p |
Missing or underdeveloped patellae is the most common skeletal abnormality |
Ohdo syndrome, SBBYS variant |
db |
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associated with the SBBYS variant of Ohdo syndrome. Affected individuals also |
Say-Barber-Biesecker-Young-Simpson syndrome |
OMIM |
603736 |
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have joint stiffness involving the hips, knees, and ankles that can impair |
Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome |
db |
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movement. Although joints in the lower body are stiff, joints in the arms and |
SBBYS variant of Ohdo syndrome |
Orphanet |
2728 |
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upper body may be unusually loose (lax). Many people with this condition have |
SBBYSS |
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long thumbs and first (big) toes. |
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Young-Simpson syndrome |
SNOMED CT |
699298009 |
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html:p |
The SBBYS variant of Ohdo syndrome is also associated with delayed development |
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and intellectual disability, which are often severe. Many affected infants have |
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weak muscle tone (hypotonia) that leads to breathing and feeding difficulties. |
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html:p |
The SBBYS variant of Ohdo syndrome is characterized by a mask-like, |
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non-expressive face. Additionally, affected individuals may have distinctive |
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facial features such as prominent cheeks, a broad nasal bridge or a nose with a |
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rounded tip, a narrowing of the eye opening (blepharophimosis), droopy eyelids |
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(ptosis), and abnormalities of the tear (lacrimal) glands. About one-third of |
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affected individuals are born with an opening in the roof of the mouth called a |
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cleft palate. The SBBYS variant of Ohdo syndrome can also be associated with |
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heart defects and dental problems. |
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related-gene-list |
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Ollier disease |
https://ghr.nlm.nih.gov/condition/ollier-disease |
Ollier disease is estimated to occur in 1 in 100,000 people. |
html:p |
Ollier disease is a disorder characterized by multiple enchondromas, which are |
n |
not inherited |
IDH1 |
https://ghr.nlm.nih.gov/gene/IDH1 |
dyschondroplasia |
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2016-02 |
2017-12-29 |
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奥利埃氏病(软骨发育异常) |
noncancerous (benign) growths of cartilage that develop within the bones. These |
related-gene |
gene-symbol |
ghr-page |
enchondromatosis |
GTR |
C0014084 |
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growths most commonly occur in the limb bones, especially in the bones of the |
IDH2 |
https://ghr.nlm.nih.gov/gene/IDH2 |
enchondromatosis, multiple, Ollier type |
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hands and feet; however, they may also occur in the skull, ribs, and bones of |
multiple cartilaginous enchondroses |
ICD-10-CM |
Q78.4 |
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the spine (vertebrae). Enchondromas may result in severe bone deformities, |
multiple enchondromatosis |
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shortening of the limbs, and fractures. |
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Ollier's syndrome |
MeSH |
D004687 |
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html:p |
The signs and symptoms of Ollier disease may be detectable at birth, although |
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they generally do not become apparent until around the age of 5. Enchondromas |
OMIM |
166000 |
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develop near the ends of bones, where normal growth occurs, and they frequently |
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stop forming after affected individuals stop growing in early adulthood. As a |
Orphanet |
296 |
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result of the bone deformities associated with Ollier disease, people with this |
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disorder generally have short stature and underdeveloped muscles. |
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SNOMED CT |
268274005 |
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html:p |
Although the enchondromas associated with Ollier disease start out as benign, |
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they may become cancerous (malignant). In particular, affected individuals may |
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develop bone cancers called chondrosarcomas, especially in the skull. People |
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with Ollier disease also have an increased risk of other cancers, such as |
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ovarian or liver cancer. |
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html:p |
People with Ollier disease usually have a normal lifespan, and intelligence is |
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unaffected. The extent of their physical impairment depends on their individual |
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skeletal deformities, but in most cases they have no major limitations in their |
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activities. |
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html:p |
A related disorder called Maffucci syndrome also involves multiple enchondromas |
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but is distinguished by the presence of red or purplish growths in the skin |
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consisting of tangles of abnormal blood vessels (hemangiomas). |
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related-gene-list |
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Omenn syndrome |
https://ghr.nlm.nih.gov/condition/omenn-syndrome |
Overall, the various forms of SCID are estimated to affect 1 in 75,000 to |
html:p |
Omenn syndrome is an inherited disorder of the immune system (immunodeficiency). |
ar |
autosomal recessive |
CARD11 |
https://ghr.nlm.nih.gov/gene/CARD11 |
familial reticuloendotheliosis |
db |
key |
2017-02 |
2017-12-29 |
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Omenn 综合症 |
100,000 newborns. The exact prevalence of Omenn syndrome is unknown. |
Omenn syndrome is one of several forms of severe combined immunodeficiency |
related-gene |
gene-symbol |
ghr-page |
histiocytic medullary reticulosis |
GTR |
C1801959 |
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(SCID), a group of disorders that cause individuals to have virtually no immune |
DCLRE1C |
https://ghr.nlm.nih.gov/gene/DCLRE1C |
Omenn's syndrome |
db |
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protection from bacteria, viruses, and fungi. Individuals with SCID are prone to |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
D81.2 |
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repeated and persistent infections that can be very serious or |
IL7R |
https://ghr.nlm.nih.gov/gene/IL7R |
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life-threatening. Infants with Omenn syndrome typically experience pneumonia and |
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D016511 |
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chronic diarrhea. Often the organisms that cause infection in people with this |
LIG4 |
https://ghr.nlm.nih.gov/gene/LIG4 |
db |
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disorder are described as opportunistic because they ordinarily do not cause |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
603554 |
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illness in healthy people. |
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RAG1 |
https://ghr.nlm.nih.gov/gene/RAG1 |
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html:p |
In addition to immunodeficiency, children with Omenn syndrome develop |
related-gene |
gene-symbol |
ghr-page |
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Orphanet |
39041 |
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autoimmunity, in which the immune system attacks the body's own tissues and |
RAG2 |
https://ghr.nlm.nih.gov/gene/RAG2 |
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organs. This abnormal immune reaction can cause very red skin (erythroderma), |
SNOMED CT |
307650006 |
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hair loss (alopecia), and an enlarged liver and spleen (hepatosplenomegaly). In |
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addition, affected individuals have enlargement of tissues that produce |
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SNOMED CT |
722067005 |
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infection-fighting white blood cells called lymphocytes. These include the |
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thymus, which is a gland located behind the breastbone, and lymph nodes, which |
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are found throughout the body. |
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html:p |
If not treated in a way that restores immune function, children with Omenn |
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syndrome usually survive only until age 1 or 2. |
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related-gene-list |
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Ophthalmo-acromelic syndrome |
https://ghr.nlm.nih.gov/condition/ophthalmo-acromelic-syndrome |
The prevalence of ophthalmo-acromelic syndrome is not known; approximately |
html:p |
Ophthalmo-acromelic syndrome is a condition that results in malformations of the |
ar |
autosomal recessive |
SMOC1 |
https://ghr.nlm.nih.gov/gene/SMOC1 |
anophthalmia-syndactyly |
db |
key |
2014-03 |
2017-12-29 |
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35 cases have been reported in the medical literature. |
eyes, hands, and feet. The features of this condition are present from birth. |
anophthalmia-Waardenburg syndrome |
GTR |
C0599973 |
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The eyes are often absent or severely underdeveloped (anophthalmia), or they may |
anophthalmos-limb anomalies syndrome |
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be abnormally small (microphthalmia). Usually both eyes are similarly affected |
anophthalmos with limb anomalies |
MeSH |
D000853 |
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in this condition, but if only one eye is small or missing, the other eye may |
microphthalmia with limb anomalies |
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have a defect such as a gap or split in its structures (coloboma). |
OAS |
OMIM |
206920 |
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html:p |
The most common hand and foot malformation seen in ophthalmo-acromelic syndrome |
ophthalmoacromelic syndrome |
db |
key |
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is missing fingers or toes (oligodactyly). Other frequent malformations include |
syndactyly-anophthalmos syndrome |
Orphanet |
1106 |
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fingers or toes that are fused together (syndactyly) or extra fingers or toes |
Waardenburg anophthalmia syndrome |
db |
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(polydactyly). These skeletal malformations are often described as acromelic, |
SNOMED CT |
703403003 |
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meaning that they occur in the bones that are away from the center of the body. |
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Additional skeletal abnormalities involving the long bones of the arms and legs |
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or the spinal bones (vertebrae) can also occur. Affected individuals may have |
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distinctive facial features, an opening in the lip (cleft lip) with or without |
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an opening in the roof of the mouth (cleft palate), or intellectual disability. |
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related-gene-list |
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Opioid addiction |
https://ghr.nlm.nih.gov/condition/opioid-addiction |
Misuse of prescription opioids and heroin affects more than 2 million |
html:p |
Opioid addiction is a long-lasting (chronic) disease that can cause major |
u |
pattern unknown |
ABCB1 |
https://ghr.nlm.nih.gov/gene/ABCB1 |
opiate addiction |
db |
key |
2017-11 |
2017-12-29 |
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鴉片類藥物成癮 |
Americans and an estimated 15 million people worldwide each year. The prevalence |
health, social, and economic problems. Opioids are a class of drugs that act in |
related-gene |
gene-symbol |
ghr-page |
opiate dependence |
GTR |
C1864733 |
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of opioid misuse and addiction is rapidly increasing.In 2016, more than 20,000 |
the nervous system to produce feelings of pleasure and pain relief. Some opioids |
AVPR1A |
https://ghr.nlm.nih.gov/gene/AVPR1A |
opioid dependence |
db |
key |
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deaths in the United States were caused by an overdose of prescription opioids, |
are legally prescribed by healthcare providers to manage severe and chronic |
related-gene |
gene-symbol |
ghr-page |
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GTR |
CN236652 |
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and another 13,000 deaths resulted from heroin overdose. Drug overdoses are now |
pain. Commonly prescribed opioids include oxycodone, fentanyl, buprenorphine, |
BDNF |
https://ghr.nlm.nih.gov/gene/BDNF |
db |
key |
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the leading cause of death in U.S. adults under age 50, and opioids account for |
methadone, oxymorphone, hydrocodone, codeine, and morphine. Some other opioids, |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
F11.2 |
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more than half of all drug overdose deaths. |
such as heroin, are illegal drugs of abuse. |
COMT |
https://ghr.nlm.nih.gov/gene/COMT |
db |
key |
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html:p |
Opioid addiction is characterized by a powerful, compulsive urge to use opioid |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
F11.20 |
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drugs, even when they are no longer required medically. Opioids have a high |
CSNK1E |
https://ghr.nlm.nih.gov/gene/CSNK1E |
db |
key |
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potential for causing addiction in some people, even when the medications are |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
F11.21 |
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prescribed appropriately and taken as directed. Many prescription opioids are |
CYP2B6 |
https://ghr.nlm.nih.gov/gene/CYP2B6 |
db |
key |
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misused or diverted to others. Individuals who become addicted may prioritize |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
F11.22 |
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getting and using these drugs over other activities in their lives, often |
DRD2 |
https://ghr.nlm.nih.gov/gene/DRD2 |
db |
key |
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negatively impacting their professional and personal relationships. It is |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
F11.23 |
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unknown why some people are more likely to become addicted than others. |
DRD3 |
https://ghr.nlm.nih.gov/gene/DRD3 |
db |
key |
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html:p |
Opioids change the chemistry of the brain and lead to drug tolerance, which |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
F11.24 |
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means that over time the dose needs to be increased to achieve the same effect. |
DRD4 |
https://ghr.nlm.nih.gov/gene/DRD4 |
db |
key |
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Taking opioids over a long period of time produces dependence, such that when |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
F11.25 |
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people stop taking the drug, they have physical and psychological symptoms of |
FKBP5 |
https://ghr.nlm.nih.gov/gene/FKBP5 |
db |
key |
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withdrawal (such as muscle cramping, diarrhea, and anxiety). Dependence is not |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
F11.28 |
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the same thing as addiction; although everyone who takes opioids for an extended |
GABRG1 |
https://ghr.nlm.nih.gov/gene/GABRG1 |
db |
key |
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period will become dependent, only a small percentage also experience the |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
F11.29 |
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compulsive, continuing need for the drug that characterizes addiction. |
GAD1 |
https://ghr.nlm.nih.gov/gene/GAD1 |
db |
key |
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html:p |
Opioid addiction can cause life-threatening health problems, including the risk |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
F11.220 |
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of overdose. Overdose occurs when high doses of opioids cause breathing to slow |
GAL |
https://ghr.nlm.nih.gov/gene/GAL |
db |
key |
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or stop, leading to unconsciousness and death if the overdose is not treated |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
F11.221 |
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immediately. Both legal and illegal opioids carry a risk of overdose if a person |
GRIN2A |
https://ghr.nlm.nih.gov/gene/GRIN2A |
db |
key |
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takes too much of the drug, or if opioids are combined with other drugs |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
F11.222 |
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(particularly tranquilizers called benzodiazepines). |
HTR1B |
https://ghr.nlm.nih.gov/gene/HTR1B |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
F11.229 |
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OPRD1 |
https://ghr.nlm.nih.gov/gene/OPRD1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
F11.250 |
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OPRK1 |
https://ghr.nlm.nih.gov/gene/OPRK1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
F11.251 |
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OPRL1 |
https://ghr.nlm.nih.gov/gene/OPRL1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
F11.259 |
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OPRM1 |
https://ghr.nlm.nih.gov/gene/OPRM1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
F11.281 |
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PDYN |
https://ghr.nlm.nih.gov/gene/PDYN |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
F11.282 |
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PNOC |
https://ghr.nlm.nih.gov/gene/PNOC |
db |
key |
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ICD-10-CM |
F11.288 |
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db |
key |
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MeSH |
D009293 |
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db |
key |
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OMIM |
610064 |
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SNOMED CT |
2.9E+14 |
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related-gene-list |
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SNOMED CT |
75544000 |
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Opitz G/BBB syndrome |
https://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome |
X-linked Opitz G/BBB syndrome is thought to affect 1 in 10,000 to 50,000 |
html:p |
Opitz G/BBB syndrome is a genetic condition that causes several abnormalities |
ad |
autosomal dominant |
MID1 |
https://ghr.nlm.nih.gov/gene/MID1 |
hypertelorism-hypospadias sydrome |
db |
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2015-01 |
2017-12-29 |
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males, although it is likely that this condition is underdiagnosed.The incidence |
along the midline of the body. "G/BBB" represents the first letters of the last |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
hypertelorism with esophageal abnormalities and hypospadias |
GTR |
C0175696 |
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of autosomal dominant Opitz G/BBB syndrome is unknown. It is part of a larger |
names of the families first diagnosed with this disorder and "Opitz" is the last |
x |
X-linked |
|
SPECC1L |
https://ghr.nlm.nih.gov/gene/SPECC1L |
hypospadias-dysphagia syndrome |
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condition known as 22q11.2 deletion syndrome, which is estimated to affect 1 in |
name of the doctor who first described the signs and symptoms. There are two |
related-chromosome |
name |
ghr-page |
Opitz BBB syndrome |
GTR |
C1801950 |
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4,000 people. |
forms of Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome and autosomal |
22 |
https://ghr.nlm.nih.gov/chromosome/22 |
Opitz BBB/G syndrome |
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dominant Opitz G/BBB syndrome. The two forms are distinguished by their genetic |
Opitz-Frias syndrome |
GeneReviews |
gr_22q11deletion |
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causes and patterns of inheritance. The signs and symptoms of the two forms are |
Opitz G syndrome |
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generally the same. |
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Opitz syndrome |
GeneReviews |
opitz |
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html:p |
Nearly everyone with Opitz G/BBB syndrome has wide-spaced eyes (ocular |
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hypertelorism). Affected individuals commonly have defects of the voice box |
MeSH |
D004062 |
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(larynx), windpipe (trachea), or esophagus. These throat abnormalities can cause |
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difficulty swallowing or breathing, in some cases resulting in recurrent |
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MeSH |
D040181 |
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pneumonia or life-threatening breathing problems. A common defect is a gap |
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between the trachea and esophagus (laryngeal cleft) that allows food or fluids |
OMIM |
145410 |
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to enter the airway. The cleft can vary in size, and infants may struggle to |
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breathe when feeding. Most males with Opitz G/BBB syndrome have genital |
OMIM |
300000 |
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abnormalities such as the urethra opening on the underside of the penis |
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(hypospadias), undescended testes (cryptorchidism), an underdeveloped scrotum, |
Orphanet |
2745 |
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or a scrotum divided into two lobes (bifid scrotum). These genital abnormalities |
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can lead to problems in the urinary tract. |
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SNOMED CT |
81771002 |
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html:p |
Mild intellectual disability and developmental delay occur in about 50 percent |
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of people with Opitz G/BBB syndrome. Affected individuals have delayed motor |
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skills, such as walking, speech delay, and learning difficulties. Some people |
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with Opitz G/BBB syndrome have features of autistic spectrum disorders, which |
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are characterized by impaired communication and socialization skills. About half |
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of affected individuals also have an opening in the lip (cleft lip) with or |
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without an opening in the roof of the mouth (cleft palate). Some have cleft |
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palate without cleft lip. Less common features of Opitz G/BBB syndrome, |
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affecting less than half of people with this disorder, include minor heart |
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defects, an obstruction of the anal opening (imperforate anus), and brain |
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defects such as a small or absent connection between the left and right halves |
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of the brain (corpus callosum). Distinct facial features that may be seen in |
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this disorder include a prominent forehead, widow's peak hairline, flat nasal |
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bridge, thin upper lip, and low-set ears. These features vary among affected |
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individuals, even within the same family. |
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related-gene-list |
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Optic atrophy type 1 |
https://ghr.nlm.nih.gov/condition/optic-atrophy-type-1 |
Optic atrophy type 1 is estimated to affect 1 in 35,000 people worldwide. |
html:p |
Optic atrophy type 1 is a condition that often causes slowly worsening vision, |
ad |
autosomal dominant |
OPA1 |
https://ghr.nlm.nih.gov/gene/OPA1 |
ADOA |
db |
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2017-08 |
2017-12-29 |
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视神经萎缩 |
This condition is more common in Denmark, where it affects approximately 1 in |
usually beginning in childhood. People with optic atrophy type 1 typically |
autosomal dominant optic atrophy |
GTR |
C0338508 |
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10,000 people. |
experience a narrowing of their field of vision (tunnel vision). Affected |
autosomal dominant optic atrophy Kjer type |
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individuals gradually lose their sight as their field of vision becomes smaller. |
DOA |
GeneReviews |
opa |
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Both eyes are usually affected equally, but the severity of the vision loss |
dominant optic atrophy |
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varies widely, even among affected members of the same family, ranging from |
Kjer type optic atrophy |
ICD-10-CM |
H47.21 |
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nearly normal vision to complete blindness. |
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Kjer's optic atrophy |
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html:p |
In addition to vision loss, people with optic atrophy type 1 frequently have |
optic atrophy, autosomal dominant |
ICD-10-CM |
H47.22 |
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problems with color vision (color vision deficiency) that make it difficult or |
optic atrophy, hereditary, autosomal dominant |
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impossible to distinguish between shades of blue and green. |
optic atrophy, juvenile |
ICD-10-CM |
H47.211 |
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html:p |
In the early stages of the condition, individuals with optic atrophy type 1 |
optic atrophy, Kjer type |
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experience a progressive loss of certain cells within the retina, which is a |
ICD-10-CM |
H47.212 |
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specialized light-sensitive tissue that lines the back of the eye. The loss of |
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these cells (known as retinal ganglion cells) is followed by the degeneration |
ICD-10-CM |
H47.213 |
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(atrophy) of the nerves that relay visual information from the eye to the brain |
db |
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(optic nerves), which results in further vision loss. Atrophy causes these |
ICD-10-CM |
H47.219 |
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nerves to have an abnormally pale appearance (pallor), which can be seen during |
db |
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an eye examination. |
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MeSH |
D029241 |
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OMIM |
165500 |
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db |
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Orphanet |
103 |
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db |
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related-gene-list |
|
SNOMED CT |
2065009 |
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Oral-facial-digital syndrome |
https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome |
Oral-facial-digital syndrome has an estimated incidence of 1 in 50,000 to |
html:p |
Oral-facial-digital syndrome is actually a group of related conditions that |
ar |
autosomal recessive |
OFD1 |
https://ghr.nlm.nih.gov/gene/OFD1 |
dysplasia linguofacialis |
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2010-02 |
2017-12-29 |
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Oral-Facial-Digital 症候群 |
250,000 newborns. Type I accounts for the majority of cases of this disorder. |
affect the development of the oral cavity (the mouth and teeth), facial |
code |
memo |
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OFDS |
GTR |
C0026363 |
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顏面-指趾徵候群 |
The other forms of oral-facial-digital syndrome are very rare; most have been |
features, and digits (fingers and toes). |
xd |
X-linked dominant |
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oro-facio-digital syndrome |
db |
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identified in only one or a few families. |
html:p |
Researchers have identified at least 13 potential forms of oral-facial-digital |
orodigitofacial dysostosis |
GTR |
C0029294 |
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syndrome. The different types are classified by their patterns of signs and |
orodigitofacial syndrome |
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symptoms. However, the features of the various types overlap significantly, and |
orofaciodigital syndrome |
GTR |
C0406726 |
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some types are not well defined. The classification system for |
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oral-facial-digital syndrome continues to evolve as researchers find more |
GTR |
C0406727 |
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affected individuals and learn more about this disorder. |
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html:p |
The signs and symptoms of oral-facial-digital syndrome vary widely. However, |
GTR |
C0796100 |
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most forms of this disorder involve problems with development of the oral |
db |
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cavity, facial features, and digits. Most forms are also associated with brain |
GTR |
C0796101 |
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abnormalities and some degree of intellectual disability. |
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html:p |
Abnormalities of the oral cavity that occur in many types of oral-facial-digital |
GTR |
C0796102 |
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syndrome include a split (cleft) in the tongue, a tongue with an unusual lobed |
db |
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shape, and the growth of noncancerous tumors or nodules on the tongue. Affected |
GTR |
C1510460 |
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individuals may also have extra, missing, or defective teeth. Another common |
db |
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feature is an opening in the roof of the mouth (a cleft palate). Some people |
GTR |
C1833796 |
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with oral-facial-digital syndrome have bands of extra tissue (called |
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hyperplastic frenula) that abnormally attach the lip to the gums. |
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GTR |
C1868118 |
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html:p |
Distinctive facial features often associated with oral-facial-digital syndrome |
db |
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include a split in the lip (a cleft lip); a wide nose with a broad, flat nasal |
|
GTR |
C2745997 |
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bridge; and widely spaced eyes (hypertelorism). |
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html:p |
Abnormalities of the digits can affect both the fingers and the toes in people |
GTR |
C2752048 |
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with oral-facial-digital syndrome. These abnormalities include fusion of certain |
db |
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fingers or toes (syndactyly), digits that are shorter than usual |
|
GeneReviews |
ofd1 |
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(brachydactyly), or digits that are unusually curved (clinodactyly). The |
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presence of extra digits (polydactyly) is also seen in most forms of |
|
MeSH |
D009958 |
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oral-facial-digital syndrome. |
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db |
key |
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html:p |
Other features occur in only one or a few types of oral-facial digital syndrome. |
OMIM |
165590 |
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These features help distinguish the different forms of the disorder. For |
|
db |
key |
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example, the most common form of oral-facial-digital syndrome, type I, is |
OMIM |
174300 |
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associated with polycystic kidney disease. This kidney disease is characterized |
db |
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by the growth of fluid-filled sacs (cysts) that interfere with the kidneys' |
|
OMIM |
252100 |
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ability to filter waste products from the blood. Other forms of |
|
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key |
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oral-facial-digital syndrome are characterized by neurological problems, |
|
OMIM |
258850 |
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particular changes in the structure of the brain, bone abnormalities, vision |
db |
key |
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loss, and heart defects. |
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OMIM |
258860 |
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db |
key |
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|
OMIM |
258865 |
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db |
key |
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OMIM |
277170 |
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db |
key |
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|
OMIM |
300484 |
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db |
key |
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|
OMIM |
311200 |
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db |
key |
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|
OMIM |
608518 |
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db |
key |
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OMIM |
612913 |
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db |
key |
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Orphanet |
2750 |
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db |
key |
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Orphanet |
2751 |
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db |
key |
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Orphanet |
2752 |
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db |
key |
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Orphanet |
2753 |
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db |
key |
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Orphanet |
2755 |
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db |
key |
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Orphanet |
2756 |
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db |
key |
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Orphanet |
2919 |
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db |
key |
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Orphanet |
141000 |
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db |
key |
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Orphanet |
141007 |
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db |
key |
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Orphanet |
90649 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
52868006 |
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Ornithine transcarbamylase deficiency |
https://ghr.nlm.nih.gov/condition/ornithine-transcarbamylase-deficiency |
Estimates of the prevalence of ornithine transcarbamylase deficiency have |
html:p |
Ornithine transcarbamylase deficiency is an inherited disorder that causes |
xr |
X-linked recessive |
OTC |
https://ghr.nlm.nih.gov/gene/OTC |
Ornithine Carbamoyltransferase Deficiency Disease |
db |
key |
2017-10 |
2017-12-29 |
|
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鳥胺酸氨甲醯基轉移酶缺乏症 |
ranged from 1 in 14,000 to 1 in 77,000 people. Individuals with the |
ammonia to accumulate in the blood. Ammonia, which is formed when proteins are |
GTR |
C0268542 |
|
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Gyrate atrophy of the choroid and retina |
neonatal-onset form of the disorder are more likely to be counted in these |
broken down in the body, is toxic if the levels become too high. The nervous |
db |
key |
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鳥胺酸酮酸轉胺酵素缺乏症 |
estimates, because people with the late-onset form are less likely to come to |
system is especially sensitive to the effects of excess ammonia. |
|
GeneReviews |
otc-def |
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medical attention. |
html:p |
Ornithine transcarbamylase deficiency can become evident at any age. The most |
db |
key |
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severe form occurs in the first few days of life. This neonatal-onset form of |
GeneReviews |
ucd-overview |
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the disorder usually affects males; it is very rare in females. An infant with |
db |
key |
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the neonatal-onset form of ornithine transcarbamylase deficiency may be lacking |
ICD-10-CM |
E72.29 |
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in energy (lethargic) or unwilling to eat, and have a poorly-controlled |
|
db |
key |
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breathing rate or body temperature. Infants with this disorder may be described |
MeSH |
D020163 |
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as "floppy" and can experience seizures or coma. Complications from ornithine |
db |
key |
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transcarbamylase deficiency may include developmental delay and intellectual |
OMIM |
311250 |
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disability. Progressive liver damage may also occur. |
|
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db |
key |
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html:p |
In some affected individuals, signs and symptoms of ornithine transcarbamylase |
Orphanet |
664 |
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deficiency may be less severe, and may not appear until later in life. The |
db |
key |
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late-onset form of the disorder occurs in both males and females. People with |
SNOMED CT |
80908008 |
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late-onset ornithine transcarbamylase deficiency may experience episodes of |
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altered mental status, such as delirium, erratic behavior, or a reduced level of |
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consciousness. Headaches, vomiting, aversion to protein foods, and seizures can |
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also occur in this form of the disorder. |
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related-gene-list |
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Ornithine translocase deficiency |
https://ghr.nlm.nih.gov/condition/ornithine-translocase-deficiency |
Ornithine translocase deficiency is a very rare disorder. Fewer than 100 |
html:p |
Ornithine translocase deficiency is an inherited disorder that causes ammonia to |
ar |
autosomal recessive |
SLC25A15 |
https://ghr.nlm.nih.gov/gene/SLC25A15 |
HHH syndrome |
db |
key |
2006-11 |
2017-12-29 |
|
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Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome, HHH |
affected individuals have been reported worldwide. |
accumulate in the blood. Ammonia, which is formed when proteins are broken down |
hyperornithinemia-hyperammonemia-homocitrullinemia syndrome |
GTR |
C0268540 |
|
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|
高鳥胺酸血症-高氨血症-高瓜胺酸血症候群 |
in the body, is toxic if the levels become too high. The nervous system is |
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
db |
key |
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especially sensitive to the effects of excess ammonia. |
|
Triple H syndrome |
GeneReviews |
hhhs |
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html:p |
Ornithine translocase deficiency varies widely in its severity and age of onset. |
db |
key |
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An infant with ornithine translocase deficiency may be lacking in energy |
|
GeneReviews |
ucd-overview |
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(lethargic) or refuse to eat, or have poorly controlled breathing or body |
|
db |
key |
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temperature. Some babies with this disorder may experience seizures or unusual |
MeSH |
D056806 |
|
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body movements, or go into a coma. Episodes of illness may coincide with the |
db |
key |
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introduction of high-protein formulas or solid foods into the diet. |
|
OMIM |
238970 |
|
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html:p |
In most affected individuals, signs and symptoms of ornithine translocase |
db |
key |
|
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deficiency do not appear until later in life. Later-onset forms of ornithine |
Orphanet |
415 |
|
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translocase deficiency are usually less severe than the infantile form. Some |
db |
key |
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people with later-onset ornithine translocase deficiency cannot tolerate |
|
SNOMED CT |
30287008 |
|
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high-protein foods, such as meat. Occasionally, high-protein meals or stress |
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caused by illness or periods without food (fasting) may cause ammonia to |
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accumulate more quickly in the blood. This rapid increase of ammonia may lead to |
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episodes of vomiting, lack of energy (lethargy), problems with coordination |
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(ataxia), confusion, or blurred vision. Complications of ornithine translocase |
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deficiency may include developmental delay, learning disabilities, and stiffness |
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caused by abnormal tensing of the muscles (spasticity). |
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related-gene-list |
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Osteoarthritis |
https://ghr.nlm.nih.gov/condition/osteoarthritis |
Osteoarthritis is a very common condition, affecting about 23 percent of |
html:p |
Osteoarthritis is a common disease of the joints that primarily occurs in older |
u |
pattern unknown |
ALDH1A2 |
https://ghr.nlm.nih.gov/gene/ALDH1A2 |
arthritis, degenerative |
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2017-10 |
2017-12-29 |
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骨關節炎 |
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adults in the United States. In middle age it affects more women than men, but |
adults. This condition is characterized by the breakdown of cartilage, the tough |
related-gene |
gene-symbol |
ghr-page |
arthropathy |
GTR |
C0029408 |
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by about age 70 most people of both sexes have some symptoms of the condition. |
but flexible tissue that covers the ends of the bones at the joints and allows |
ASTN2 |
https://ghr.nlm.nih.gov/gene/ASTN2 |
degenerative joint disease |
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Severe osteoarthritis is a major contributor to disability worldwide.The |
smooth joint movements. One or more parts of the body can be affected, most |
related-gene |
gene-symbol |
ghr-page |
degenerative polyarthritis |
GTR |
C1835815 |
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prevalence of osteoarthritis has doubled in the United States since the 1940s, |
often the hands, shoulders, spine, knees, or hips. |
COL11A1 |
https://ghr.nlm.nih.gov/gene/COL11A1 |
hypertrophic arthritis |
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and research indicates that longer lifespans and higher rates of obesity do not |
html:p |
Osteoarthritis usually develops slowly, causing pain, stiffness, and restricted |
related-gene |
gene-symbol |
ghr-page |
OA |
GTR |
C2675609 |
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fully explain the increase. Scientists suggest that other, undetermined features |
movement as the condition gets worse. Areas of bone no longer cushioned by |
DOT1L |
https://ghr.nlm.nih.gov/gene/DOT1L |
osteoarthritis deformans |
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of modern life are involved in the development of the condition. |
cartilage rub against each other and start to break down. Further damage is |
related-gene |
gene-symbol |
ghr-page |
osteoarthrosis |
ICD-10-CM |
M15 |
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caused as the body attempts to repair and rebuild these tissues. The immune |
GDF5 |
https://ghr.nlm.nih.gov/gene/GDF5 |
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system, which plays a role in healing injuries, targets these areas, and its |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D010003 |
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response leads to inflammation of the joint tissues. Abnormal growths of bone |
MCF2L |
https://ghr.nlm.nih.gov/gene/MCF2L |
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(osteophytes) and other tissue can also occur, and may be visible as enlarged |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
140600 |
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joints. Enlargement of the joints of the fingers is especially noticeable. |
NCOA3 |
https://ghr.nlm.nih.gov/gene/NCOA3 |
db |
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html:p |
People with osteoarthritis typically experience stiffness following periods of |
OMIM |
165720 |
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inactivity such as upon awakening or rising from a chair; the stiffness usually |
db |
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improves as they move around. In some affected individuals, the condition never |
OMIM |
607850 |
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causes major problems. In others, severe osteoarthritis can impair mobility and |
db |
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the ability to perform daily tasks, affecting quality of life and increasing the |
OMIM |
610839 |
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risk of other health conditions such as cardiovascular disease. |
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html:p |
Osteoarthritis is most common in middle age or late adulthood, because the |
OMIM |
612400 |
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cartilage at the joints naturally begins to thin as people age. However, it can |
db |
key |
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occur earlier in life, especially after injuries affecting the joints such as a |
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OMIM |
612401 |
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type of knee injury called an anterior cruciate ligament (ACL) tear. People who |
db |
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are overweight or whose activities are particularly stressful to the joints are |
SNOMED CT |
396275006 |
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also at increased risk of developing osteoarthritis. |
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related-gene-list |
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Osteogenesis imperfecta |
https://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta |
This condition affects an estimated 6 to 7 per 100,000 people worldwide. |
html:p |
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect |
ad |
autosomal dominant |
COL1A1 |
https://ghr.nlm.nih.gov/gene/COL1A1 |
Brittle bone disease |
db |
key |
2013-04 |
2017-12-29 |
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成骨不全症 |
Types I and IV are the most common forms of osteogenesis imperfecta, affecting 4 |
the bones. The term "osteogenesis imperfecta" means imperfect bone formation. |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Fragilitas ossium |
GTR |
C0023931 |
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成骨發育不全(玻璃娃娃) |
to 5 per 100,000 people. |
People with this condition have bones that break easily, often from mild trauma |
ar |
autosomal recessive |
COL1A2 |
https://ghr.nlm.nih.gov/gene/COL1A2 |
OI |
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or with no apparent cause. Multiple fractures are common, and in severe cases, |
related-gene |
gene-symbol |
ghr-page |
Vrolik disease |
GTR |
C0029434 |
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can occur even before birth. Milder cases may involve only a few fractures over |
CRTAP |
https://ghr.nlm.nih.gov/gene/CRTAP |
db |
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a person's lifetime. |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C0268360 |
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html:p |
There are at least eight recognized forms of osteogenesis imperfecta, designated |
P3H1 |
https://ghr.nlm.nih.gov/gene/P3H1 |
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type I through type VIII. The types can be distinguished by their signs and |
GTR |
C0268362 |
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symptoms, although their characteristic features overlap. Type I is the mildest |
db |
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form of osteogenesis imperfecta and type II is the most severe; other types of |
GTR |
C0268363 |
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this condition have signs and symptoms that fall somewhere between these two |
db |
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extremes. Increasingly, genetic factors are used to define the different forms |
GTR |
C1850169 |
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of osteogenesis imperfecta. |
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html:p |
The milder forms of osteogenesis imperfecta, including type I, are characterized |
GTR |
C1853162 |
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by bone fractures during childhood and adolescence that often result from minor |
db |
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trauma. Fractures occur less frequently in adulthood. People with mild forms |
GTR |
C1970414 |
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of the condition typically have a blue or grey tint to the part of the eye that |
db |
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is usually white (the sclera), and may develop hearing loss in adulthood. |
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GTR |
C1970458 |
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Affected individuals are usually of normal or near normal height. |
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html:p |
Other types of osteogenesis imperfecta are more severe, causing frequent bone |
GTR |
C3151211 |
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fractures that may begin before birth and result from little or no trauma. |
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Additional features of these conditions can include blue sclerae, short stature, |
GTR |
C3151218 |
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hearing loss, respiratory problems, and a disorder of tooth development called |
db |
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dentinogenesis imperfecta. The most severe forms of osteogenesis imperfecta, |
GTR |
C3151433 |
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particularly type II, can include an abnormally small, fragile rib cage and |
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db |
key |
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underdeveloped lungs. Infants with these abnormalities have life-threatening |
GeneReviews |
oi |
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problems with breathing and often die shortly after birth. |
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db |
key |
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ICD-10-CM |
Q78.0 |
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db |
key |
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MeSH |
D010013 |
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db |
key |
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OMIM |
166200 |
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db |
key |
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OMIM |
166210 |
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db |
key |
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OMIM |
166220 |
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db |
key |
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OMIM |
259420 |
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db |
key |
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OMIM |
610682 |
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db |
key |
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OMIM |
610915 |
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db |
key |
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OMIM |
610967 |
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db |
key |
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OMIM |
610968 |
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db |
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Orphanet |
666 |
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db |
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SNOMED CT |
205496008 |
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db |
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SNOMED CT |
205497004 |
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db |
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SNOMED CT |
254110009 |
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db |
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SNOMED CT |
385482004 |
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db |
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SNOMED CT |
385483009 |
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SNOMED CT |
78314001 |
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related-gene-list |
|
SNOMED CT |
86470003 |
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Osteoglophonic dysplasia |
https://ghr.nlm.nih.gov/condition/osteoglophonic-dysplasia |
Osteoglophonic dysplasia is a rare disorder; its prevalence is unknown. |
html:p |
Osteoglophonic dysplasia is a condition characterized by abnormal bone growth |
ad |
autosomal dominant |
FGFR1 |
https://ghr.nlm.nih.gov/gene/FGFR1 |
Fairbank-Keats syndrome |
db |
key |
2013-07 |
2017-12-29 |
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Only about 15 cases have been reported in the medical literature. |
that leads to severe head and face (craniofacial) abnormalities, dwarfism, and |
OGD |
GTR |
C0432283 |
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other features. The term osteoglophonic refers to the bones (osteo-) having |
osteoglophonic dwarfism |
db |
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distinctive hollowed out (-glophonic) areas that appear as holes on x-ray |
|
MeSH |
D004392 |
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images. |
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db |
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html:p |
Premature fusion of certain bones in the skull (craniosynostosis) typically |
OMIM |
166250 |
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occurs in osteoglophonic dysplasia. The craniosynostosis associated with this |
db |
key |
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disorder may give the head a tall appearance, often referred to in the medical |
Orphanet |
2645 |
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literature as a tower-shaped skull, or a relatively mild version of a deformity |
db |
key |
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called a cloverleaf skull. Characteristic facial features in people with |
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SNOMED CT |
254144002 |
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osteoglophonic dysplasia include a prominent forehead (frontal bossing), widely |
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spaced eyes (hypertelorism), flattening of the bridge of the nose and of the |
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middle of the face (midface hypoplasia), a large tongue (macroglossia), a |
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protruding jaw (prognathism), and a short neck. People with this condition |
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usually have no visible teeth because the teeth never emerge from the jaw |
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(clinical anodontia). In addition, the gums are often overgrown (hypertrophic |
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gingiva). |
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html:p |
Infants with osteoglophonic dysplasia often experience failure to thrive, which |
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means they do not gain weight and grow at the expected rate. Affected |
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individuals have short, bowed legs and arms and are short in stature. They also |
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have flat feet and short, broad hands and fingers. |
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The life expectancy of people with osteoglophonic dysplasia depends on the |
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extent of their craniofacial abnormalities; those that obstruct the air passages |
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and affect the mouth and teeth can lead to respiratory problems and cause |
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difficulty with eating and drinking. Despite the skull abnormalities, |
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intelligence is generally not affected in this disorder. |
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related-gene-list |
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Osteopetrosis |
https://ghr.nlm.nih.gov/condition/osteopetrosis |
Autosomal dominant osteopetrosis is the most common form of the disorder, |
html:p |
Osteopetrosis is a bone disease that makes bones abnormally dense and prone to |
ad |
autosomal dominant |
CA2 |
https://ghr.nlm.nih.gov/gene/CA2 |
congenital osteopetrosis |
db |
key |
2010-09 |
2017-12-29 |
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骨質石化症 |
affecting about 1 in 20,000 people. Autosomal recessive osteopetrosis is rarer, |
breakage (fracture). Researchers have described several major types of |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
marble bone disease |
GTR |
C0345407 |
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occurring in an estimated 1 in 250,000 people.Other forms of osteopetrosis are |
osteopetrosis, which are usually distinguished by their pattern of inheritance: |
ar |
autosomal recessive |
CLCN7 |
https://ghr.nlm.nih.gov/gene/CLCN7 |
osteopetroses |
db |
key |
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very rare. Only a few cases of intermediate autosomal osteopetrosis and |
autosomal dominant, autosomal recessive, or X-linked. The different types of the |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1833700 |
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OL-EDA-ID have been reported in the medical literature. |
disorder can also be distinguished by the severity of their signs and symptoms. |
xr |
X-linked recessive |
IKBKG |
https://ghr.nlm.nih.gov/gene/IKBKG |
db |
key |
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html:p |
Autosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1838258 |
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disease, is typically the mildest type of the disorder. Some affected |
ITGB3 |
https://ghr.nlm.nih.gov/gene/ITGB3 |
db |
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individuals have no symptoms. In these people, the unusually dense bones may be |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1843330 |
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discovered by accident when an x-ray is done for another reason. In affected |
OSTM1 |
https://ghr.nlm.nih.gov/gene/OSTM1 |
db |
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individuals who develop signs and symptoms, the major features of the condition |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1845919 |
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include multiple bone fractures, abnormal side-to-side curvature of the spine |
PLEKHM1 |
https://ghr.nlm.nih.gov/gene/PLEKHM1 |
db |
key |
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(scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1850126 |
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infection called osteomyelitis. These problems usually become apparent in late |
TCIRG1 |
https://ghr.nlm.nih.gov/gene/TCIRG1 |
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childhood or adolescence. |
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related-gene |
gene-symbol |
ghr-page |
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GTR |
C1850127 |
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html:p |
Autosomal recessive osteopetrosis (ARO) is a more severe form of the disorder |
TNFRSF11A |
https://ghr.nlm.nih.gov/gene/TNFRSF11A |
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key |
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that becomes apparent in early infancy. Affected individuals have a high risk of |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1968603 |
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bone fracture resulting from seemingly minor bumps and falls. Their abnormally |
TNFSF11 |
https://ghr.nlm.nih.gov/gene/TNFSF11 |
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dense skull bones pinch nerves in the head and face (cranial nerves), often |
GTR |
C1969093 |
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resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense |
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bones can also impair the function of bone marrow, preventing it from producing |
GTR |
C1969106 |
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new blood cells and immune system cells. As a result, people with severe |
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osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells |
GTR |
C2676766 |
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(anemia), and recurrent infections. In the most severe cases, these bone marrow |
db |
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abnormalities can be life-threatening in infancy or early childhood. |
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GeneReviews |
clcn7 |
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html:p |
Other features of autosomal recessive osteopetrosis can include slow growth and |
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short stature, dental abnormalities, and an enlarged liver and spleen |
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ICD-10-CM |
Q78.2 |
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(hepatosplenomegaly). Depending on the genetic changes involved, people with |
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severe osteopetrosis can also have brain abnormalities, intellectual disability, |
MeSH |
D010022 |
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or recurrent seizures (epilepsy). |
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html:p |
A few individuals have been diagnosed with intermediate autosomal osteopetrosis |
OMIM |
166600 |
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(IAO), a form of the disorder that can have either an autosomal dominant or an |
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autosomal recessive pattern of inheritance. The signs and symptoms of this |
OMIM |
259700 |
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condition become noticeable in childhood and include an increased risk of bone |
db |
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fracture and anemia. People with this form of the disorder typically do not have |
OMIM |
259710 |
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life-threatening bone marrow abnormalities. However, some affected individuals |
db |
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have had abnormal calcium deposits (calcifications) in the brain, intellectual |
OMIM |
259720 |
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disability, and a form of kidney disease called renal tubular acidosis. |
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html:p |
Rarely, osteopetrosis can have an X-linked pattern of inheritance. In addition |
OMIM |
259730 |
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to abnormally dense bones, the X-linked form of the disorder is characterized by |
db |
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abnormal swelling caused by a buildup of fluid (lymphedema) and a condition |
OMIM |
300301 |
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called anhydrotic ectodermal dysplasia that affects the skin, hair, teeth, and |
db |
key |
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sweat glands. Affected individuals also have a malfunctioning immune system |
OMIM |
600329 |
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(immunodeficiency), which allows severe, recurrent infections to develop. |
db |
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Researchers often refer to this condition as OL-EDA-ID, an acronym derived from |
OMIM |
611490 |
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each of the major features of the disorder. |
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db |
key |
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OMIM |
611497 |
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db |
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OMIM |
612301 |
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db |
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Orphanet |
2781 |
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db |
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SNOMED CT |
1926006 |
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SNOMED CT |
254121000 |
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related-gene-list |
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SNOMED CT |
254122007 |
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Osteoporosis-pseudoglioma syndrome |
https://ghr.nlm.nih.gov/condition/osteoporosis-pseudoglioma-syndrome |
Osteoporosis-pseudoglioma syndrome is a rare disorder that occurs in |
html:p |
Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe |
ar |
autosomal recessive |
LRP5 |
https://ghr.nlm.nih.gov/gene/LRP5 |
OPPG |
db |
key |
2013-01 |
2017-12-29 |
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approximately 1 in 2 million people. |
thinning of the bones (osteoporosis) and eye abnormalities that lead to vision |
osteogenesis imperfecta, ocular form |
GTR |
C0432252 |
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loss. In people with this condition, osteoporosis is usually recognized in early |
db |
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childhood. It is caused by a shortage of minerals, such as calcium, in bones |
MeSH |
D010024 |
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(decreased bone mineral density), which makes the bones brittle and prone to |
db |
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fracture. Affected individuals often have multiple bone fractures, including in |
OMIM |
259770 |
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the bones that form the spine (vertebrae). Multiple fractures can cause collapse |
db |
key |
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of the affected vertebrae (compressed vertebrae), abnormal side-to-side |
|
Orphanet |
2788 |
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curvature of the spine (scoliosis), short stature, and limb deformities. |
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Decreased bone mineral density can also cause softening or thinning of the skull |
SNOMED CT |
254112001 |
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(craniotabes). |
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html:p |
Most affected individuals have impaired vision at birth or by early infancy and |
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are blind by young adulthood. Vision problems are usually caused by one of |
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several eye conditions, grouped together as pseudoglioma, that affect the |
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light-sensitive tissue at the back of the eye (the retina), although other eye |
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conditions have been identified in affected individuals. Pseudogliomas are so |
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named because, on examination, the conditions resemble an eye tumor known as a |
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retinal glioma. |
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html:p |
Rarely, people with osteoporosis-pseudoglioma syndrome have additional signs or |
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symptoms such as mild intellectual disability, weak muscle tone (hypotonia), |
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abnormally flexible joints, or seizures. |
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Otopalatodigital Spectrum Disorders |
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泛耳-齶-指(趾)症候群 |
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related-gene-list |
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Otopalatodigital syndrome type 1 |
https://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-1 |
Otopalatodigital syndrome type 1 is a rare disorder, affecting fewer than 1 |
html:p |
Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities |
xd |
X-linked dominant |
FLNA |
https://ghr.nlm.nih.gov/gene/FLNA |
cranioorodigital syndrome |
db |
key |
2007-11 |
2017-12-29 |
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耳-齶-指(趾)症候群第一型 |
in every 100,000 individuals. Its specific incidence is unknown. |
in skeletal development. It is a member of a group of related conditions called |
faciopalatoosseous syndrome |
GTR |
C0265251 |
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otopalatodigital spectrum disorders, which also includes otopalatodigital |
FPO |
db |
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syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In |
OPD syndrome, type 1 |
GeneReviews |
opd |
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general, these disorders involve hearing loss caused by malformations in the |
oto-palato-digital syndrome, type I |
db |
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tiny bones in the ears (ossicles), problems in the development of the roof of |
Taybi syndrome |
MeSH |
D010009 |
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the mouth (palate), and skeletal abnormalities involving the fingers and/or toes |
db |
key |
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(digits). |
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OMIM |
311300 |
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html:p |
Otopalatodigital syndrome type 1 is usually the mildest of the otopalatodigital |
db |
key |
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spectrum disorders. People with this condition usually have characteristic |
Orphanet |
669 |
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facial features including wide-set and downward-slanting eyes; prominent brow |
db |
key |
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ridges; and a small, flat nose. Affected individuals also have hearing loss and |
SNOMED CT |
54036001 |
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chest deformities. They have abnormalities of the fingers and toes, such as |
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blunt, square-shaped (spatulate) fingertips; shortened thumbs and big toes; and |
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unusually long second toes. |
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html:p |
Affected individuals may be born with an opening in the roof of the mouth (a |
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cleft palate). They may have mildly bowed limbs, and limited range of motion in |
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some joints. People with otopalatodigital syndrome type 1 may be somewhat |
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shorter than other members of their family. Males with this disorder often have |
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more severe signs and symptoms than do females, who may show only the |
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characteristic facial features. |
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related-gene-list |
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Otopalatodigital syndrome type 2 |
https://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-2 |
Otopalatodigital syndrome type 2 is a rare disorder, affecting fewer than 1 |
html:p |
Otopalatodigital syndrome type 2 is a disorder involving abnormalities in |
xd |
X-linked dominant |
FLNA |
https://ghr.nlm.nih.gov/gene/FLNA |
cranioorodigital syndrome |
db |
key |
2007-11 |
2017-12-29 |
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|
耳-齶-指(趾)症候群第2型 |
in every 100,000 individuals. Its specific incidence is unknown. |
skeletal development and other health problems. It is a member of a group of |
faciopalatoosseous syndrome |
GTR |
C1844696 |
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related conditions called otopalatodigital spectrum disorders, which also |
FPO |
db |
key |
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includes otopalatodigital syndrome type 1, frontometaphyseal dysplasia, and |
OPD syndrome, type 2 |
GeneReviews |
opd |
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Melnick-Needles syndrome. In general, these disorders involve hearing loss |
oto-palato-digital syndrome, type II |
db |
key |
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caused by malformations in the tiny bones in the ears (ossicles), problems in |
Taybi syndrome |
MeSH |
D010009 |
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the development of the roof of the mouth (palate), and skeletal abnormalities |
db |
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involving the fingers and/or toes (digits). Otopalatodigital syndrome type 2 |
OMIM |
304120 |
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also tends to cause problems in other areas of the body, such as the brain and |
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heart. |
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Orphanet |
669 |
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html:p |
People with otopalatodigital syndrome type 2 have characteristic facial features |
db |
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including wide-set and downward-slanting eyes; prominent brow ridges; a broad, |
SNOMED CT |
42432003 |
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flat nose; and a very small lower jaw and chin (micrognathia). The base of the |
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skull may be thickened. Some people with this disorder have hearing loss. |
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Affected individuals are usually of short stature and may have abnormalities of |
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the fingers and toes, such as unusual curvature of the fingers (camptodactyly) |
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and shortened or absent thumbs and big toes. They may have bowed limbs; |
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underdeveloped, irregular ribs that may cause problems with breathing; and other |
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abnormal or absent bones. Some may be born with an opening in the roof of the |
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mouth (a cleft palate). |
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html:p |
In addition to skeletal abnormalities, individuals with otopalatodigital |
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syndrome type 2 may have developmental delay, increased fluid in the center of |
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the brain (hydrocephalus), protrusion of the abdominal organs through the navel |
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(omphalocele), heart defects, chest abnormalities, obstruction of the ducts |
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between the kidneys and bladder (ureters), and, in males, opening of the urethra |
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on the underside of the penis (hypospadias). |
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html:p |
Males with otopalatodigital syndrome type 2 generally have much more severe |
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signs and symptoms than do females. Males with the disorder usually do not live |
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beyond their first year, because their underdeveloped rib cage does not allow |
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sufficient lung expansion for breathing. |
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related-gene-list |
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Otospondylomegaepiphyseal dysplasia |
https://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia |
This condition is rare; its prevalence is unknown. Only a few families with |
html:p |
Otospondylomegaepiphyseal dysplasia (OSMED) is a condition characterized by |
ar |
autosomal recessive |
COL11A2 |
https://ghr.nlm.nih.gov/gene/COL11A2 |
chondrodystrophy with sensorineural deafness |
db |
key |
2016-05 |
2017-12-29 |
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耳脊椎骨骺发育不良 |
OSMED worldwide have been described in the medical literature. |
skeletal abnormalities, distinctive facial features, and severe hearing loss. |
Insley-Astley syndrome |
GTR |
C0432210 |
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The term "otospondylomegaepiphyseal" refers to the parts of the body that this |
mega-epiphyseal dwarfism |
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condition affects: the ears (oto-), the bones of the spine (spondylo-), and the |
Nance-Insley syndrome |
MeSH |
D003095 |
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ends (epiphyses) of long bones in the arms and legs. The features of this |
Nance-Sweeney chondrodysplasia |
db |
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condition significantly overlap those of two similar conditions, |
OSMED |
OMIM |
215150 |
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Weissenbacher-Zweymüller syndrome and Stickler syndrome type III. All of these |
oto-spondylo-megaepiphyseal dysplasia |
db |
key |
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conditions are caused by mutations in the same gene, and in some cases, it can |
Orphanet |
1427 |
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be difficult to tell the conditions apart. Some researchers believe they |
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represent a single disorder with a range of signs and symptoms. |
|
SNOMED CT |
254060000 |
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html:p |
People with OSMED are often shorter than average because the long bones in their |
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legs are unusually short. Other skeletal features include enlarged joints; |
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short arms, hands, and fingers; and flattened bones of the spine |
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(platyspondyly). People with the disorder often experience back and joint pain, |
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limited joint movement, and arthritis that begins early in life. |
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html:p |
Severe high-frequency hearing loss is common in people with OSMED. Typical |
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facial features include protruding eyes; a flattened bridge of the nose; an |
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upturned nose with a large, rounded tip; and a small lower jaw. Almost all |
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affected infants are born with an opening in the roof of the mouth (a cleft |
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palate). |
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related-gene-list |
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Otulipenia |
https://ghr.nlm.nih.gov/condition/otulipenia |
The prevalence of otulipenia is not known. At least four cases have been |
html:p |
Otulipenia is characterized by abnormal inflammation throughout the body. |
ar |
autosomal recessive |
OTULIN |
https://ghr.nlm.nih.gov/gene/OTULIN |
AIPDS |
db |
key |
2016-12 |
2017-12-29 |
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reported in the medical literature. |
Inflammation is a normal immune system response to injury and foreign invaders |
autoinflammation, panniculitis, and dermatosis syndrome |
GTR |
C4310614 |
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(such as bacteria). However, the uncontrolled inflammation that occurs in |
ORAS |
db |
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otulipenia can damage many of the body's tissues and organs, including the |
OTULIN-related autoinflammatory syndrome |
MeSH |
D056660 |
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gastrointestinal system, joints, and skin. Disorders such as otulipenia that |
db |
key |
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result from abnormally increased inflammation are known as autoinflammatory |
OMIM |
617099 |
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diseases. |
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html:p |
Signs and symptoms of otulipenia usually begin within the first few weeks of |
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life, with recurring episodes of fever; diarrhea; painful, swollen joints; and |
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skin rashes. The skin rashes are due to inflammation of the layer of fatty |
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tissue under the skin (panniculitis), which causes painful red bumps. Some |
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people with otulipenia have an abnormal distribution of fatty tissue in their |
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bodies (lipodystrophy). Affected infants have difficulty growing and gaining |
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weight at the expected rate (failure to thrive). Damage to the body's tissues |
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and organs caused by inflammation is life-threatening if the condition is not |
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treated. |
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related-gene-list |
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Ovarian cancer |
https://ghr.nlm.nih.gov/condition/ovarian-cancer |
Ovarian cancer is diagnosed in about 22,000 women in the United States each |
html:p |
Ovarian cancer is a disease that affects women. In this form of cancer, certain |
ad |
autosomal dominant |
AKT1 |
https://ghr.nlm.nih.gov/gene/AKT1 |
cancer of the ovary |
db |
key |
2015-10 |
2017-12-29 |
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(Cancer) |
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year. A woman's lifetime risk of developing ovarian cancer is about 1 in 75. |
cells in the ovary become abnormal and multiply uncontrollably to form a tumor. |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
malignant neoplasm of the ovary |
GTR |
C1140680 |
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卵巢癌 |
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The ovaries are the female reproductive organs in which egg cells are produced. |
n |
not inherited |
BARD1 |
https://ghr.nlm.nih.gov/gene/BARD1 |
malignant tumor of the ovary |
db |
key |
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In about 90 percent of cases, ovarian cancer occurs after age 40, and most cases |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ovarian carcinoma |
GeneReviews |
brca1 |
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occur after age 60. |
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pattern unknown |
BRCA1 |
https://ghr.nlm.nih.gov/gene/BRCA1 |
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html:p |
The most common form of ovarian cancer begins in epithelial cells, which are the |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
C56 |
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cells that line the surfaces and cavities of the body. These cancers can arise |
BRCA2 |
https://ghr.nlm.nih.gov/gene/BRCA2 |
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in the epithelial cells on the surface of the ovary. However, researchers |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
C56.1 |
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suggest that many or even most ovarian cancers begin in epithelial cells on the |
BRIP1 |
https://ghr.nlm.nih.gov/gene/BRIP1 |
db |
key |
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fringes (fimbriae) at the end of one of the fallopian tubes, and the cancerous |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
C56.2 |
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cells migrate to the ovary. |
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CDH1 |
https://ghr.nlm.nih.gov/gene/CDH1 |
db |
key |
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html:p |
Cancer can also begin in epithelial cells that form the lining of the abdomen |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
C56.9 |
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(the peritoneum). This form of cancer, called primary peritoneal cancer, |
CHEK2 |
https://ghr.nlm.nih.gov/gene/CHEK2 |
db |
key |
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resembles epithelial ovarian cancer in its origin, symptoms, progression, and |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D010051 |
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treatment. Primary peritoneal cancer often spreads to the ovaries. It can also |
CTNNB1 |
https://ghr.nlm.nih.gov/gene/CTNNB1 |
db |
key |
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occur even if the ovaries have been removed. Because cancers that begin in the |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
167000 |
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ovaries, fallopian tubes, and peritoneum are so similar and spread easily from |
MLH1 |
https://ghr.nlm.nih.gov/gene/MLH1 |
db |
key |
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one of these structures to the others, they are often difficult to distinguish. |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
604370 |
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These cancers are so closely related that they are generally considered |
MRE11 |
https://ghr.nlm.nih.gov/gene/MRE11 |
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key |
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collectively by experts. |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
607893 |
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html:p |
In about 10 percent of cases, ovarian cancer develops not in epithelial cells |
MSH2 |
https://ghr.nlm.nih.gov/gene/MSH2 |
db |
key |
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but in germ cells, which are precursors to egg cells, or in hormone-producing |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
612555 |
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ovarian cells called granulosa cells. |
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MSH6 |
https://ghr.nlm.nih.gov/gene/MSH6 |
db |
key |
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html:p |
In its early stages, ovarian cancer usually does not cause noticeable symptoms. |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
613399 |
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As the cancer progresses, signs and symptoms can include pain or a feeling of |
NBN |
https://ghr.nlm.nih.gov/gene/NBN |
db |
key |
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heaviness in the pelvis or lower abdomen, bloating, feeling full quickly when |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
614291 |
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eating, back pain, vaginal bleeding between menstrual periods or after |
OPCML |
https://ghr.nlm.nih.gov/gene/OPCML |
db |
key |
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menopause, or changes in urinary or bowel habits. However, these changes can |
related-gene |
gene-symbol |
ghr-page |
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Orphanet |
213500 |
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occur as part of many different conditions. Having one or more of these symptoms |
PALB2 |
https://ghr.nlm.nih.gov/gene/PALB2 |
db |
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does not mean that a woman has ovarian cancer. |
related-gene |
gene-symbol |
ghr-page |
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SNOMED CT |
363443007 |
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html:p |
In some cases, cancerous tumors can invade surrounding tissue and spread to |
PIK3CA |
https://ghr.nlm.nih.gov/gene/PIK3CA |
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other parts of the body. If ovarian cancer spreads, cancerous tumors most often |
related-gene |
gene-symbol |
ghr-page |
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appear in the abdominal cavity or on the surfaces of nearby organs such as the |
PMS2 |
https://ghr.nlm.nih.gov/gene/PMS2 |
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bladder or colon. Tumors that begin at one site and then spread to other areas |
related-gene |
gene-symbol |
ghr-page |
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of the body are called metastatic cancers. |
PRKN |
https://ghr.nlm.nih.gov/gene/PRKN |
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html:p |
Some ovarian cancers cluster in families. These cancers are described as |
related-gene |
gene-symbol |
ghr-page |
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hereditary and are associated with inherited gene mutations. Hereditary ovarian |
RAD50 |
https://ghr.nlm.nih.gov/gene/RAD50 |
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cancers tend to develop earlier in life than non-inherited (sporadic) cases. |
related-gene |
gene-symbol |
ghr-page |
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html:p |
Because it is often diagnosed at a late stage, ovarian cancer can be difficult |
RAD51C |
https://ghr.nlm.nih.gov/gene/RAD51C |
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to treat; it leads to the deaths of about 14,000 women annually in the United |
related-gene |
gene-symbol |
ghr-page |
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States, more than any other gynecological cancer. However, when it is diagnosed |
RAD51D |
https://ghr.nlm.nih.gov/gene/RAD51D |
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and treated early, the 5-year survival rate is high. |
related-gene |
gene-symbol |
ghr-page |
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STK11 |
https://ghr.nlm.nih.gov/gene/STK11 |
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related-gene |
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TP53 |
https://ghr.nlm.nih.gov/gene/TP53 |
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related-gene-list |
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Pachyonychia congenita |
https://ghr.nlm.nih.gov/condition/pachyonychia-congenita |
Although the prevalence of pachyonychia congenita is unknown, it appears to |
html:p |
Pachyonychia congenita is a condition that primarily affects the nails and skin. |
ad |
autosomal dominant |
KRT6A |
https://ghr.nlm.nih.gov/gene/KRT6A |
congenital pachyonychia |
db |
key |
2015-12 |
2017-12-29 |
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先天性厚甲症 |
be rare. There are probably several thousand people worldwide with this |
The signs and symptoms of this condition usually become apparent within the |
related-gene |
gene-symbol |
ghr-page |
Jackson-Lawler syndrome (PC-2) |
GTR |
C0265334 |
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disorder. |
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first few months of life. |
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KRT6B |
https://ghr.nlm.nih.gov/gene/KRT6B |
Jadassohn-Lewandowski syndrome (PC-1) |
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html:p |
Almost everyone with pachyonychia congenita has hypertrophic nail dystrophy, |
related-gene |
gene-symbol |
ghr-page |
pachyonychia congenita syndrome |
GTR |
C1706595 |
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which causes the fingernails and toenails to become thick and abnormally shaped. |
KRT6C |
https://ghr.nlm.nih.gov/gene/KRT6C |
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Many affected children also develop very painful blisters and calluses on the |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1721007 |
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soles of the feet and, less commonly, on the palms of the hands. This condition |
KRT16 |
https://ghr.nlm.nih.gov/gene/KRT16 |
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is known as palmoplantar keratoderma. Severe blisters and calluses on the feet |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3714949 |
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can make it painful or impossible to walk. |
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KRT17 |
https://ghr.nlm.nih.gov/gene/KRT17 |
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html:p |
Pachyonychia congenita can have several additional features, which vary among |
GeneReviews |
pc |
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affected individuals. These features include thick, white patches on the tongue |
db |
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and inside of the cheeks (oral leukokeratosis); bumps called follicular |
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MeSH |
D053549 |
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keratoses that develop around hair follicles on the elbows, knees, and |
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waistline; cysts in the armpits, groin, back, or scalp; and excessive sweating |
OMIM |
167200 |
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on the palms and soles (palmoplantar hyperhidrosis). Some affected individuals |
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also develop widespread cysts called steatocystomas, which are filled with an |
OMIM |
167210 |
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oily substance called sebum that normally lubricates the skin and hair. Some |
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babies with pachyonychia congenita have prenatal or natal teeth, which are teeth |
OMIM |
615726 |
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that are present at birth or in early infancy. Rarely, pachyonychia congenita |
db |
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can affect the voice box (larynx), potentially leading to hoarseness or |
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OMIM |
615728 |
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breathing problems. |
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html:p |
Researchers used to split pachyonychia congenita into two types, PC-1 and PC-2, |
Orphanet |
2309 |
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based on the genetic cause and pattern of signs and symptoms. However, as more |
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affected individuals were identified, it became clear that the features of the |
SNOMED CT |
39427000 |
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two types overlapped considerably. Now researchers prefer to describe |
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pachyonychia congenita based on the gene that is altered. |
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related-gene-list |
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Paget disease of bone |
https://ghr.nlm.nih.gov/condition/paget-disease-of-bone |
Classic Paget disease of bone occurs in approximately 1 percent of people |
html:p |
Paget disease of bone is a disorder that causes bones to grow larger and weaker |
ad |
autosomal dominant |
SQSTM1 |
https://ghr.nlm.nih.gov/gene/SQSTM1 |
osseous Paget's disease |
db |
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2015-09 |
2017-12-29 |
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佩吉特氏病 |
older than 40 in the United States. Scientists estimate that about 1 million |
than normal. Affected bones may be misshapen and easily broken (fractured). |
related-gene |
gene-symbol |
ghr-page |
osteitis deformans |
GTR |
C0029401 |
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people in this country have the disease. It is most common in people of western |
html:p |
The classic form of Paget disease of bone typically appears in middle age or |
TNFRSF11A |
https://ghr.nlm.nih.gov/gene/TNFRSF11A |
Paget disease, bone |
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European heritage.Early-onset Paget disease of bone is much rarer. This form of |
later. It usually occurs in one or a few bones and does not spread from one bone |
related-gene |
gene-symbol |
ghr-page |
Paget's disease of bone |
GTR |
C0268414 |
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the disorder has been reported in only a few families. |
to another. Any bones can be affected, although the disease most commonly |
TNFRSF11B |
https://ghr.nlm.nih.gov/gene/TNFRSF11B |
PDB |
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affects bones in the spine, pelvis, skull, or legs. |
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GTR |
C1853473 |
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html:p |
Many people with classic Paget disease of bone do not experience any symptoms |
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associated with their bone abnormalities. The disease is often diagnosed |
GTR |
C4016837 |
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unexpectedly by x-rays or laboratory tests done for other reasons. People who |
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develop symptoms are most likely to experience pain. The affected bones may |
GTR |
C4085250 |
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themselves be painful, or pain may be caused by arthritis in nearby joints. |
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Arthritis results when the distortion of bones, particularly weight-bearing |
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GTR |
C4085252 |
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bones in the legs, causes extra wear and tear on the joints. Arthritis most |
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frequently affects the knees and hips in people with this disease. |
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ICD-10-CM |
M88 |
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html:p |
Other complications of Paget disease of bone depend on which bones are affected. |
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If the disease occurs in bones of the skull, it can cause an enlarged head, |
ICD-10-CM |
M88.0 |
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hearing loss, headaches, and dizziness. If the disease affects bones in the |
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spine, it can lead to numbness and tingling (due to pinched nerves) and abnormal |
ICD-10-CM |
M88.1 |
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spinal curvature. In the leg bones, the disease can cause bowed legs and |
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difficulty walking. |
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ICD-10-CM |
M88.8 |
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html:p |
A rare type of bone cancer called osteosarcoma has been associated with Paget |
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disease of bone. This type of cancer probably occurs in less than 1 in 1,000 |
ICD-10-CM |
M88.9 |
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people with this disease. |
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html:p |
Early-onset Paget disease of bone is a less common form of the disease that |
ICD-10-CM |
M88.81 |
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appears in a person's teens or twenties. Its features are similar to those of |
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the classic form of the disease, although it is more likely to affect the skull, |
ICD-10-CM |
M88.82 |
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spine, and ribs (the axial skeleton) and the small bones of the hands. The |
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early-onset form of the disorder is also associated with hearing loss early in |
ICD-10-CM |
M88.83 |
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life. |
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ICD-10-CM |
M88.84 |
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db |
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ICD-10-CM |
M88.85 |
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db |
key |
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ICD-10-CM |
M88.86 |
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db |
key |
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ICD-10-CM |
M88.87 |
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db |
key |
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ICD-10-CM |
M88.88 |
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db |
key |
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ICD-10-CM |
M88.89 |
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db |
key |
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ICD-10-CM |
M88.811 |
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db |
key |
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ICD-10-CM |
M88.812 |
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db |
key |
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ICD-10-CM |
M88.819 |
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db |
key |
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ICD-10-CM |
M88.821 |
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db |
key |
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ICD-10-CM |
M88.822 |
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db |
key |
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ICD-10-CM |
M88.829 |
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db |
key |
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ICD-10-CM |
M88.831 |
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db |
key |
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ICD-10-CM |
M88.832 |
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db |
key |
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ICD-10-CM |
M88.839 |
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db |
key |
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ICD-10-CM |
M88.841 |
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db |
key |
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ICD-10-CM |
M88.842 |
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db |
key |
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ICD-10-CM |
M88.849 |
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db |
key |
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ICD-10-CM |
M88.851 |
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db |
key |
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ICD-10-CM |
M88.852 |
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db |
key |
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ICD-10-CM |
M88.859 |
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db |
key |
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ICD-10-CM |
M88.861 |
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db |
key |
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ICD-10-CM |
M88.862 |
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db |
key |
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ICD-10-CM |
M88.869 |
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db |
key |
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ICD-10-CM |
M88.871 |
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db |
key |
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ICD-10-CM |
M88.872 |
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db |
key |
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ICD-10-CM |
M88.879 |
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db |
key |
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|
MeSH |
D010001 |
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db |
key |
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|
|
OMIM |
167250 |
|
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db |
key |
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|
|
OMIM |
239000 |
|
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db |
key |
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|
OMIM |
602080 |
|
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db |
key |
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OMIM |
606263 |
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db |
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Orphanet |
280110 |
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db |
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related-gene-list |
|
SNOMED CT |
2089002 |
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Pallister-Hall syndrome |
https://ghr.nlm.nih.gov/condition/pallister-hall-syndrome |
This condition is very rare; its prevalence is unknown. |
html:p |
Pallister-Hall syndrome is a disorder that affects the development of many parts |
ad |
autosomal dominant |
GLI3 |
https://ghr.nlm.nih.gov/gene/GLI3 |
Hall-Pallister syndrome |
db |
key |
2016-11 |
2017-12-29 |
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Pallister-Hall 綜合症 |
|
of the body. Most people with this condition have extra fingers and/or toes |
PHS |
GTR |
C0265220 |
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(polydactyly), and the skin between some fingers or toes may be fused (cutaneous |
db |
key |
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syndactyly). An abnormal growth in the brain called a hypothalamic (下丘脑) hamartoma is |
GeneReviews |
phs |
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characteristic of this disorder. In many cases, these growths do not cause any |
db |
key |
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health problems; however, some hypothalamic hamartomas lead to seizures or |
MeSH |
D054975 |
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hormone abnormalities that can be life-threatening in infancy. Other features of |
db |
key |
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Pallister-Hall syndrome include a malformation of the airway called a bifid |
OMIM |
146510 |
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epiglottis, an obstruction of the anal opening (imperforate anus), and kidney |
db |
key |
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abnormalities. Although the signs and symptoms of this disorder vary from mild |
Orphanet |
672 |
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to severe, only a small percentage of affected people have serious |
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complications. |
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SNOMED CT |
56677004 |
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related-gene-list |
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Pallister-Killian mosaic syndrome |
https://ghr.nlm.nih.gov/condition/pallister-killian-mosaic-syndrome |
Pallister-Killian mosaic syndrome appears to be a rare condition, although |
html:p |
Pallister-Killian mosaic syndrome is a developmental disorder that affects many |
n |
not inherited |
12 |
https://ghr.nlm.nih.gov/chromosome/12 |
isochromosome 12p syndrome |
db |
key |
2015-06 |
2017-12-29 |
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its exact prevalence is unknown. This disorder may be underdiagnosed because it |
parts of the body. This condition is characterized by extremely weak muscle tone |
Pallister-Killian syndrome |
GTR |
C0265449 |
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can be difficult to detect in people with mild signs and symptoms. As a result, |
(hypotonia) in infancy and early childhood, intellectual disability, |
PKS |
db |
key |
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most diagnoses are made in children with more severe features of the disorder. |
distinctive facial features, sparse hair, areas of unusual skin coloring |
Teschler-Nicola/Killian syndrome |
MeSH |
D025063 |
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More than 150 people with Pallister-Killian mosaic syndrome have been reported |
(pigmentation), and other birth defects. |
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tetrasomy 12p, mosaic |
db |
key |
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in the medical literature. |
html:p |
Most babies with Pallister-Killian mosaic syndrome are born with significant |
OMIM |
601803 |
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hypotonia, which can cause difficulty breathing and problems with feeding. |
db |
key |
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Hypotonia also interferes with the normal development of motor skills such as |
Orphanet |
884 |
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sitting, standing, and walking. About 30 percent of affected individuals are |
db |
key |
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ultimately able to walk without assistance. Additional developmental delays |
SNOMED CT |
9527009 |
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result from intellectual disability, which is usually severe to profound. Speech |
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is often limited or absent in people with this condition. |
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html:p |
Pallister-Killian mosaic syndrome is associated with a distinctive facial |
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appearance that is often described as "coarse." Characteristic facial features |
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include a high, rounded forehead; a broad nasal bridge; a short nose; widely |
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spaced eyes; low-set ears; rounded cheeks; and a wide mouth with a thin upper |
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lip and a large tongue. Some affected children are born with an opening in the |
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roof of the mouth (cleft palate) or a high arched palate. |
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html:p |
Most children with Pallister-Killian mosaic syndrome have sparse hair on their |
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heads, particularly around the temples. These areas may fill in as affected |
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children get older. Many affected individuals also have streaks or patches of |
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skin that are darker or lighter than the surrounding skin. These skin changes |
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can occur anywhere on the body, and they may be apparent at birth or occur later |
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in life. |
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html:p |
Additional features of Pallister-Killian mosaic syndrome can include hearing |
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loss, vision impairment, seizures, extra nipples, genital abnormalities, and |
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heart defects. Affected individuals may also have skeletal abnormalities such as |
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extra fingers and/or toes, large big toes (halluces), and unusually short arms |
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and legs. About 40 percent of affected infants are born with a congenital |
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diaphragmatic hernia, which is a hole in the muscle that separates the abdomen |
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from the chest cavity (the diaphragm). This potentially serious birth defect |
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allows the stomach and intestines to move into the chest, where they can crowd |
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the developing heart and lungs. |
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html:p |
The signs and symptoms of Pallister-Killian mosaic syndrome vary, although most |
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people with this disorder have severe to profound intellectual disability and |
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other serious health problems. The most severe cases involve birth defects that |
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are life-threatening in early infancy. However, several affected people have had |
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milder features, including mild intellectual disability and less noticeable |
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physical abnormalities. |
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related-gene-list |
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Palmoplantar keratoderma with deafness |
https://ghr.nlm.nih.gov/condition/palmoplantar-keratoderma-with-deafness |
Palmoplantar keratoderma with deafness is a rare disorder; its prevalence |
html:p |
Palmoplantar keratoderma with deafness is a disorder characterized by skin |
ad |
autosomal dominant |
GJB2 |
https://ghr.nlm.nih.gov/gene/GJB2 |
palmoplantar hyperkeratosis-deafness syndrome |
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2012-11 |
2017-12-29 |
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is unknown. At least 10 affected families have been identified. |
abnormalities and hearing loss. Affected individuals develop unusually thick |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
palmoplantar hyperkeratosis-hearing loss syndrome |
GTR |
C1835672 |
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skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) |
m |
mitochondrial |
MT-TS1 |
https://ghr.nlm.nih.gov/gene/MT-TS1 |
palmoplantar keratoderma-deafness syndrome |
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beginning in childhood. Hearing loss ranges from mild to profound. It begins in |
palmoplantar keratoderma-hearing loss syndrome |
MeSH |
D007645 |
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early childhood and gets worse over time. Affected individuals have particular |
PPK-deafness syndrome |
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trouble hearing high-pitched sounds. |
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PPK with deafness |
OMIM |
148350 |
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html:p |
The signs and symptoms of this disorder may vary even within the same family, |
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with some individuals developing only skin abnormalities and others developing |
Orphanet |
2202 |
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only hearing loss. |
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related-gene-list |
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SNOMED CT |
722203001 |
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Pantothenate kinase-associated neurodegeneration |
https://ghr.nlm.nih.gov/condition/pantothenate-kinase-associated-neurodegenerati |
The precise incidence of this condition is unknown. It is estimated to |
html:p |
Pantothenate kinase-associated neurodegeneration (formerly called |
ar |
autosomal recessive |
PANK2 |
https://ghr.nlm.nih.gov/gene/PANK2 |
NBIA1 |
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2015-01 |
2017-12-29 |
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Pantothenate kinase associated neurodegeneration |
on |
affect 1 to 3 per million people worldwide. |
Hallervorden-Spatz syndrome) is a disorder of the nervous system. This |
neurodegeneration with brain iron accumulation type 1 |
GTR |
C1846582 |
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泛酸鹽激活酵素關聯之神經退化性疾病 |
condition is characterized by progressive difficulty with movement, typically |
PKAN |
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Hallervorden-Spatz syndrome |
beginning in childhood. Movement abnormalities include involuntary muscle |
GTR |
CN043643 |
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spasms, rigidity, and trouble with walking that worsens over time. Many people |
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with this condition also develop problems with speech (dysarthria), and some |
GeneReviews |
pkan |
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develop vision loss. Additionally, affected individuals may experience a loss |
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of intellectual function (dementia) and psychiatric symptoms such as behavioral |
ICD-10-CM |
G23.0 |
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problems, personality changes, and depression. |
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html:p |
Pantothenate kinase-associated neurodegeneration is characterized by an abnormal |
MeSH |
D006211 |
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buildup of iron in certain areas of the brain. A particular change called the |
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eye-of-the-tiger sign, which indicates an accumulation of iron, is typically |
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OMIM |
234200 |
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seen on magnetic resonance imaging (MRI) scans of the brain in people with this |
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disorder. |
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OMIM |
607236 |
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html:p |
Researchers have described classic and atypical forms of pantothenate |
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kinase-associated neurodegeneration. The classic form usually appears in early |
Orphanet |
385 |
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childhood, causing severe problems with movement that worsen rapidly. Features |
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of the atypical form appear later in childhood or adolescence and progress more |
SNOMED CT |
2992000 |
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slowly. Signs and symptoms vary, but the atypical form is more likely than the |
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classic form to involve speech defects and psychiatric problems. |
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html:p |
A condition called HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis |
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pigmentosa, and pallidal degeneration), which was historically described as a |
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separate syndrome, is now considered part of pantothenate kinase-associated |
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neurodegeneration. Although HARP is much rarer than classic pantothenate |
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kinase-associated neurodegeneration, both conditions involve problems with |
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movement, dementia, and vision abnormalities. |
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PAPA Syndrome |
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PAPA 症候群 |
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related-gene-list |
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Paramyotonia congenita |
https://ghr.nlm.nih.gov/condition/paramyotonia-congenita |
Paramyotonia congenita is an uncommon disorder; it is estimated to affect |
html:p |
Paramyotonia congenita is a disorder that affects muscles used for movement |
ad |
autosomal dominant |
SCN4A |
https://ghr.nlm.nih.gov/gene/SCN4A |
Eulenburg disease |
db |
key |
2015-08 |
2017-12-29 |
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先天性副肌強直 |
fewer than 1 in 100,000 people. |
(skeletal muscles). Beginning in infancy or early childhood, people with this |
paralysis periodica paramyotonia |
GTR |
C1868617 |
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condition experience bouts of sustained muscle tensing (myotonia) that prevent |
paramyotonia congenita of von Eulenburg |
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muscles from relaxing normally. Myotonia causes muscle stiffness that typically |
PMC |
MeSH |
D020967 |
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appears after exercise and can be induced by muscle cooling. This stiffness |
Von Eulenberg's disease |
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chiefly affects muscles in the face, neck, arms, and hands, although it can also |
OMIM |
168300 |
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affect muscles used for breathing and muscles in the lower body. Unlike many |
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other forms of myotonia, the muscle stiffness associated with paramyotonia |
Orphanet |
684 |
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congenita tends to worsen with repeated movements. |
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html:p |
Most people—even those without muscle disease—feel that their muscles do not |
SNOMED CT |
41574007 |
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work as well when they are cold. This effect is dramatic in people with |
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paramyotonia congenita. Exposure to cold initially causes muscle stiffness in |
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these individuals, and prolonged cold exposure leads to temporary episodes of |
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mild to severe muscle weakness that may last for several hours at a time. Some |
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older people with paramyotonia congenita develop permanent muscle weakness that |
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can be disabling. |
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related-gene-list |
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Parathyroid cancer |
https://ghr.nlm.nih.gov/condition/parathyroid-cancer |
Parathyroid cancer is one of the rarest types of cancer. It accounts for |
html:p |
Parathyroid cancer is a rare cancer that usually affects people in their forties |
ad |
autosomal dominant |
CDC73 |
https://ghr.nlm.nih.gov/gene/CDC73 |
cancer of the parathyroid |
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key |
2017-09 |
2017-12-29 |
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甲狀旁腺癌 |
0.005 percent of all cancers, with about 1,000 cases reported in the medical |
or fifties and occurs in one of the four parathyroid glands. The parathyroid |
code |
memo |
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cancer of the parathyroid gland |
GTR |
C0687150 |
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literature. |
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glands are located in the neck and secrete parathyroid hormone, which enhances |
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not inherited |
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carcinoma of parathyroid gland |
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the release of calcium into the blood. |
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malignant neoplasm of parathyroid |
GeneReviews |
hrpt2 |
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html:p |
In about 90 percent of cases, the early signs of parathyroid cancer are high |
malignant neoplasm of parathyroid gland |
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levels of parathyroid hormone (hyperparathyroidism) and calcium (hypercalcemia) |
malignant parathyroid gland neoplasm |
ICD-10-CM |
C75.0 |
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in the blood. In these cases, the cancer is described as hormonally functional |
malignant parathyroid gland tumor |
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because the parathyroid glands are producing excess hormone. |
malignant parathyroid neoplasm |
MeSH |
D010282 |
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html:p |
Many individuals with hormonally functional parathyroid cancer develop |
malignant parathyroid tumor |
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hypercalcemic crisis, in which calcium levels in the blood are very high. |
malignant tumor of parathyroid |
OMIM |
608266 |
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Neurological problems can develop, including changes in mood and depression. |
malignant tumor of parathyroid gland |
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About 30 percent of individuals with hypercalcemia due to parathyroid cancer |
parathyroid adenocarcinoma |
Orphanet |
143 |
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develop kidney and skeletal problems. These problems include increased urine |
parathyroid carcinoma |
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production (polyuria), deposits of calcium in the kidneys (nephrocalcinosis) |
parathyroid gland cancer |
SNOMED CT |
363481002 |
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leading to the formation of kidney stones (nephrolithiasis), bone pain, bone |
parathyroid gland carcinoma |
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loss, and increased bone fractures. Abdominal pain, inflammation of the pancreas |
parathyroid neoplasms |
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(pancreatitis), sores (ulcers) in the lining of the digestive tract, nausea, |
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vomiting, weight loss, and fatigue are also common. |
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html:p |
About 10 percent of cases of parathyroid cancer are described as hormonally |
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nonfunctional. In these cases, levels of parathyroid hormone and calcium are |
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normal. The signs and symptoms of hormonally nonfunctional parathyroid cancer |
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are related to the tumor obstructing nearby structures in the neck. These |
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problems include difficulty swallowing (dysphagia) and speaking (dysarthria), a |
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hoarse voice, shortness of breath (dyspnea), or vocal cord paralysis. |
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html:p |
Up to 85 percent of individuals with parathyroid survive at least 5 years after |
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they are diagnosed. The disease recurs in approximately half of individuals. If |
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cancer does recur, it will commonly be within 3 years of the original diagnosis |
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and up to 78 percent of people with recurrent cancer survive at least 5 years. |
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Hormonally nonfunctional parathyroid cancer has a lower survival rate because it |
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is often found at a later stage, as it does not have early signs such as |
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increased calcium and parathyroid hormone levels. |
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html:p |
In hormonally functional parathyroid cancer, death is usually caused by organ |
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failure (usually kidney failure) due to prolonged hypercalcemia and not directly |
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due to the tumor. In hormonally nonfunctional parathyroid cancer, the cause of |
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death is typically related to the tumor itself, such as its impact on the |
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function of nearby structures or its spread to other tissues (metastasis). |
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related-gene-list |
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Parkes Weber syndrome |
https://ghr.nlm.nih.gov/condition/parkes-weber-syndrome |
Parkes Weber syndrome is a rare condition; its exact prevalence is unknown. |
html:p |
Parkes Weber syndrome is a disorder of the vascular system, which is the body's |
ad |
autosomal dominant |
RASA1 |
https://ghr.nlm.nih.gov/gene/RASA1 |
Parkes-Weber syndrome |
db |
key |
2011-08 |
2017-12-29 |
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complex network of blood vessels. The vascular system consists of arteries, |
PKWS |
GTR |
CN074207 |
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which carry oxygen-rich blood from the heart to the body's various organs and |
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tissues; veins, which carry blood back to the heart; and capillaries, which are |
GeneReviews |
rasa1-rel-dis |
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tiny blood vessels that connect arteries and veins. |
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html:p |
Parkes Weber syndrome is characterized by vascular abnormalities known as |
MeSH |
D054079 |
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capillary malformations and arteriovenous fistulas (AVFs), which are present |
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from birth. The capillary malformations increase blood flow near the surface of |
OMIM |
608355 |
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the skin. They usually look like large, flat, pink stains on the skin, and |
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because of their color are sometimes called "port-wine stains." In people with |
Orphanet |
90307 |
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Parkes Weber syndrome, capillary malformations occur together with multiple |
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micro-AVFs, which are tiny abnormal connections between arteries and veins that |
SNOMED CT |
234143003 |
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affect blood circulation. These AVFs can be associated with life-threatening |
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complications including abnormal bleeding and heart failure. |
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html:p |
Another characteristic feature of Parkes Weber syndrome is overgrowth of one |
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limb, most commonly a leg. Abnormal growth occurs in bones and soft tissues, |
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making one of the limbs longer and larger around than the corresponding one. |
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html:p |
Some vascular abnormalities seen in Parkes Weber syndrome are similar to those |
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that occur in a condition called capillary malformation-arteriovenous |
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malformation syndrome (CM-AVM). CM-AVM and some cases of Parkes Weber syndrome |
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have the same genetic cause. |
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related-gene-list |
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Parkinson disease |
https://ghr.nlm.nih.gov/condition/parkinson-disease |
Parkinson disease affects more than 1 million people in North America and |
html:p |
Parkinson disease is a progressive disorder of the nervous system. The disorder |
ad |
autosomal dominant |
ATP13A2 |
https://ghr.nlm.nih.gov/gene/ATP13A2 |
Parkinson's disease |
db |
key |
2012-05 |
2017-12-29 |
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帕金森氏症 |
more than 4 million people worldwide. In the United States, Parkinson disease |
affects several regions of the brain, especially an area called the substantia |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
PD |
GTR |
C1838867 |
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occurs in approximately 13 per 100,000 people, and about 60,000 new cases are |
nigra that controls balance and movement. |
ar |
autosomal recessive |
GBA |
https://ghr.nlm.nih.gov/gene/GBA |
primary parkinsonism |
db |
key |
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identified each year.The late-onset form is the most common type of Parkinson |
html:p |
Often the first symptom of Parkinson disease is trembling or shaking (tremor) of |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1843211 |
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disease, and the risk of developing this condition increases with age. Because |
a limb, especially when the body is at rest. Typically, the tremor begins on |
LRRK2 |
https://ghr.nlm.nih.gov/gene/LRRK2 |
db |
key |
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more people are living longer, the number of people with this disease is |
one side of the body, usually in one hand. Tremors can also affect the arms, |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1845165 |
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expected to increase in coming decades. |
legs, feet, and face. Other characteristic symptoms of Parkinson disease include |
PARK7 |
https://ghr.nlm.nih.gov/gene/PARK7 |
db |
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rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1846862 |
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an inability to move (akinesia), and impaired balance and coordination (postural |
PINK1 |
https://ghr.nlm.nih.gov/gene/PINK1 |
db |
key |
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instability). These symptoms worsen slowly over time. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1847360 |
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html:p |
Parkinson disease can also affect emotions and thinking ability (cognition). |
PRKN |
https://ghr.nlm.nih.gov/gene/PRKN |
db |
key |
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Some affected individuals develop psychiatric conditions such as depression and |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1850100 |
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visual hallucinations. People with Parkinson disease also have an increased risk |
SNCA |
https://ghr.nlm.nih.gov/gene/SNCA |
db |
key |
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of developing dementia, which is a decline in intellectual functions including |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1853202 |
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judgment and memory. |
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UCHL1 |
https://ghr.nlm.nih.gov/gene/UCHL1 |
db |
key |
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html:p |
Generally, Parkinson disease that begins after age 50 is called late-onset |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1853445 |
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disease. The condition is described as early-onset disease if signs and symptoms |
VPS35 |
https://ghr.nlm.nih.gov/gene/VPS35 |
db |
key |
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begin before age 50. Early-onset cases that begin before age 20 are sometimes |
GTR |
C1853833 |
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referred to as juvenile-onset Parkinson disease. |
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db |
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GTR |
C1854182 |
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db |
key |
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GTR |
C1865581 |
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db |
key |
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GTR |
C1868595 |
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db |
key |
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GTR |
C1868675 |
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db |
key |
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GTR |
C2751012 |
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db |
key |
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GTR |
C2751842 |
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db |
key |
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GTR |
C3150899 |
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db |
key |
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GTR |
C3160718 |
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db |
key |
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GTR |
C3280133 |
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db |
key |
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GTR |
C3280271 |
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db |
key |
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GeneReviews |
jpd |
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db |
key |
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GeneReviews |
lrrk2 |
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db |
key |
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GeneReviews |
parkinson-overview |
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db |
key |
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GeneReviews |
pink1-pd |
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db |
key |
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GeneReviews |
vps35-pd |
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db |
key |
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ICD-10-CM |
G20 |
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db |
key |
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MeSH |
D010300 |
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db |
key |
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OMIM |
168600 |
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db |
key |
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OMIM |
168601 |
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db |
key |
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|
OMIM |
260300 |
|
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db |
key |
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OMIM |
300557 |
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db |
key |
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|
OMIM |
556500 |
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db |
key |
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OMIM |
600116 |
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db |
key |
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|
OMIM |
602404 |
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db |
key |
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OMIM |
605543 |
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db |
key |
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OMIM |
605909 |
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db |
key |
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OMIM |
606324 |
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db |
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OMIM |
606852 |
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db |
key |
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OMIM |
607060 |
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db |
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OMIM |
607688 |
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db |
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OMIM |
610297 |
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db |
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OMIM |
612953 |
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db |
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OMIM |
613164 |
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db |
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OMIM |
613643 |
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db |
key |
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OMIM |
614203 |
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db |
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OMIM |
614251 |
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db |
key |
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Orphanet |
2828 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
49049000 |
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Paroxysmal extreme pain disorder |
https://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder |
Paroxysmal extreme pain disorder is a rare condition; approximately 80 |
html:p |
Paroxysmal extreme pain disorder is a condition characterized by skin redness |
ad |
autosomal dominant |
SCN9A |
https://ghr.nlm.nih.gov/gene/SCN9A |
familial rectal pain |
db |
key |
2012-11 |
2017-12-29 |
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|
陣發性極度疼痛症 |
affected individuals have been described in the scientific literature. |
and warmth (flushing) and attacks of severe pain in various parts of the body. |
PEPD |
GTR |
C1833661 |
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The area of flushing typically corresponds to the site of the pain. The pain |
PEXPD |
db |
key |
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attacks experienced by people with paroxysmal extreme pain disorder usually last |
submandibular, ocular, and rectal pain with flushing |
MeSH |
D010148 |
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seconds to minutes, but in some cases can last hours. These attacks can start |
db |
key |
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as early as infancy. Early in life, the pain is typically concentrated in the |
OMIM |
167400 |
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lower part of the body, especially around the rectum, and is usually triggered |
db |
key |
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by a bowel movement. Some children may develop constipation, which is thought to |
Orphanet |
46348 |
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be due to fear of triggering a pain attack. Pain attacks in these young |
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db |
key |
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children may also be accompanied by seizures, slow heartbeat, or short pauses in |
SNOMED CT |
699190008 |
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breathing (apnea). |
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html:p |
As a person with paroxysmal extreme pain disorder ages, the location of pain |
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changes. Pain attacks switch from affecting the lower body to affecting the head |
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and face, especially the eyes and jaw. Triggers of these pain attacks include |
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changes in temperature (such as a cold wind) and emotional distress as well as |
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eating spicy foods and drinking cold drinks. |
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html:p |
Paroxysmal extreme pain disorder is considered a form of peripheral neuropathy |
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because it affects the peripheral nervous system, which connects the brain and |
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spinal cord to muscles and to cells that detect sensations such as touch, smell, |
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and pain. |
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related-gene-list |
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Paroxysmal nocturnal hemoglobinuria, PNH |
https://ghr.nlm.nih.gov/condition/paroxysmal-nocturnal-hemoglobinuria |
Paroxysmal nocturnal hemoglobinuria is a rare disorder, estimated to affect |
html:p |
Paroxysmal nocturnal hemoglobinuria is an acquired disorder that leads to the |
xd |
X-linked dominant |
PIGA |
https://ghr.nlm.nih.gov/gene/PIGA |
Hemoglobinuria, Paroxysmal |
db |
key |
2007-05 |
2017-12-29 |
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陣發性夜間血紅素尿症 |
between 1 and 5 per million people. |
premature death and impaired production of blood cells. The disorder affects red |
Marchiafava-Micheli Syndrome |
GTR |
C0024790 |
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blood cells (erythrocytes), which carry oxygen; white blood cells (leukocytes), |
db |
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which protect the body from infection; and platelets (thrombocytes), which are |
ICD-10-CM |
D59.5 |
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involved in blood clotting. Paroxysmal nocturnal hemoglobinuria affects both |
db |
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sexes equally, and can occur at any age, although it is most often diagnosed in |
MeSH |
D006457 |
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young adulthood. |
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html:p |
People with paroxysmal nocturnal hemoglobinuria have sudden, recurring episodes |
OMIM |
311770 |
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of symptoms (paroxysmal symptoms), which may be triggered by stresses on the |
db |
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body, such as infections or physical exertion. During these episodes, red blood |
SNOMED CT |
1963002 |
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cells are prematurely destroyed (hemolysis). Affected individuals may pass |
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dark-colored urine due to the presence of hemoglobin, the oxygen-carrying |
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protein in blood. The abnormal presence of hemoglobin in the urine is called |
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hemoglobinuria. In many, but not all cases, hemoglobinuria is most noticeable in |
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the morning, upon passing urine that has accumulated in the bladder during the |
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night (nocturnal). |
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html:p |
The premature destruction of red blood cells results in a deficiency of these |
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cells in the blood (hemolytic anemia), which can cause signs and symptoms such |
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as fatigue, weakness, abnormally pale skin (pallor), shortness of breath, and an |
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increased heart rate. People with paroxysmal nocturnal hemoglobinuria may also |
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be prone to infections due to a deficiency of white blood cells. |
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html:p |
Abnormal platelets associated with paroxysmal nocturnal hemoglobinuria can cause |
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problems in the blood clotting process. As a result, people with this disorder |
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may experience abnormal blood clotting (thrombosis), especially in large |
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abdominal veins; or, less often, episodes of severe bleeding (hemorrhage). |
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html:p |
Individuals with paroxysmal nocturnal hemoglobinuria are at increased risk of |
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developing cancer in blood-forming cells (leukemia). |
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html:p |
In some cases, people who have been treated for another blood disease called |
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aplastic anemia may develop paroxysmal nocturnal hemoglobinuria. |
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related-gene-list |
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Partington syndrome |
https://ghr.nlm.nih.gov/condition/partington-syndrome |
The prevalence of Partington syndrome is unknown. At least 20 cases have |
html:p |
Partington syndrome is a neurological disorder that causes intellectual |
xr |
X-linked recessive |
ARX |
https://ghr.nlm.nih.gov/gene/ARX |
MRX36 |
db |
key |
2017-08 |
2017-12-29 |
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帕廷頓綜合症 |
been described in the medical literature. |
disability along with a condition called focal dystonia that particularly |
Partington-Mulley syndrome |
GTR |
C0796250 |
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affects movement of the hands. Partington syndrome usually occurs in males; when |
Partington X-linked mental retardation syndrome |
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it occurs in females, the signs and symptoms are often less severe. |
PRTS |
MeSH |
D038901 |
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html:p |
The intellectual disability associated with Partington syndrome usually ranges |
X-linked intellectual deficit-dystonia-dysarthria |
db |
key |
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from mild to moderate. Some affected individuals have characteristics of autism |
X-linked mental retardation with dystonic movements, ataxia, and seizures |
OMIM |
309510 |
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spectrum disorders that affect communication and social interaction. Recurrent |
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seizures (epilepsy) may also occur in Partington syndrome. |
|
Orphanet |
94083 |
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html:p |
Focal dystonia of the hands is a feature that distinguishes Partington syndrome |
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from other intellectual disability syndromes. Dystonias are a group of movement |
SNOMED CT |
702412005 |
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problems characterized by involuntary, sustained muscle contractions; tremors; |
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and other uncontrolled movements. The term "focal" refers to a type of dystonia |
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that affects a single part of the body, in this case the hands. In Partington |
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syndrome, focal dystonia of the hands, which is called the Partington sign, |
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begins in early childhood and gradually gets worse. This condition typically |
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causes difficulty with grasping movements or using a pen or pencil. |
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html:p |
People with Partington syndrome may also have dystonia affecting other parts of |
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the body; dystonia affecting the muscles in the face and those involved in |
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speech may cause impaired speech (dysarthria). People with this disorder may |
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also have an awkward way of walking (gait). Signs and symptoms can vary widely, |
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even within the same family. |
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PAX6-Related Anophthalmia |
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先天性無虹膜症 |
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inheritance-pattern-list |
related-gene-list |
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PDGFRA-associated chronic eosinophilic leukemia |
https://ghr.nlm.nih.gov/condition/pdgfra-associated-chronic-eosinophilic-leukemi |
PDGFRA-associated chronic eosinophilic leukemia is a rare condition; |
html:p |
html:i |
|
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n |
not inherited |
ghr-page |
PDGFRA-associated myeloproliferative neoplasm |
db-key |
db |
key |
2015-09 |
2017-12-29 |
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(Cancer) |
a |
however, the exact prevalence is unknown. |
PDGFRA |
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related-gene |
https://ghr.nlm.nih.gov/gene/FIP1L1 |
|
GTR |
C0206141 |
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(Blood) |
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ghr-page |
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db-key |
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related-chromosome |
https://ghr.nlm.nih.gov/gene/PDGFRA |
|
MeSH |
D017681 |
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-associated chronic eosinophilic leukemia. |
ghr-page |
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https://ghr.nlm.nih.gov/chromosome/4 |
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OMIM |
607685 |
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html:p |
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PDGFRA |
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Orphanet |
168956 |
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SNOMED CT |
128835008 |
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SNOMED CT |
188733003 |
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-associated chronic eosinophilic leukemia can also have an enlarged spleen |
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(splenomegaly) and elevated levels of certain chemicals called vitamin B12 and |
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tryptase in the blood. |
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html:p |
html:i |
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PDGFRA |
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-associated chronic eosinophilic leukemia develop other blood cell cancers, such |
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as acute myeloid leukemia or B-cell or T-cell acute lymphoblastic leukemia or |
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lymphoblastic lymphoma. |
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html:p |
html:i |
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PDGFRA |
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inheritance-pattern-list |
related-gene-list |
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PDGFRB-associated chronic eosinophilic leukemia |
https://ghr.nlm.nih.gov/condition/pdgfrb-associated-chronic-eosinophilic-leukemi |
The exact prevalence of PDGFRB-associated chronic eosinophilic leukemia is |
html:p |
html:i |
|
|
u |
pattern unknown |
ghr-page |
atypical Philadelphia-negative chronic myeloid leukemia |
db-key |
db |
key |
2013-02 |
2017-12-29 |
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a |
unknown. For unknown reasons, males are up to nine times more likely than |
PDGFRB |
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related-gene |
https://ghr.nlm.nih.gov/gene/ETV6 |
chronic myelomonocytic leukemia |
GTR |
C1851585 |
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females to develop PDGFRB-associated chronic eosinophilic leukemia. |
ghr-page |
chronic myeloproliferative disorder with eosinophilia |
db-key |
db |
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related-chromosome |
https://ghr.nlm.nih.gov/gene/PDGFRB |
clonal eosinophilia with chronic myeloproliferative disorder |
MeSH |
D017681 |
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ghr-page |
primary eosinophilia with chronic myeloproliferative disorder |
db-key |
db |
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-associated chronic eosinophilic leukemia. Some people with this condition have |
related-chromosome |
https://ghr.nlm.nih.gov/chromosome/5 |
|
Orphanet |
168950 |
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an increased number of other types of white blood cells, such as neutrophils or |
ghr-page |
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db-key |
db |
key |
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mast cells, in addition to eosinophils. People with this condition can have an |
https://ghr.nlm.nih.gov/chromosome/12 |
|
SNOMED CT |
128835008 |
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enlarged spleen (splenomegaly) or enlarged liver (hepatomegaly). Some affected |
db-key |
db |
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individuals develop skin rashes, likely as a result of an abnormal immune |
|
SNOMED CT |
188733003 |
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response due to the increased number of eosinophils. |
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db-key |
db |
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SNOMED CT |
190055003 |
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db-key |
db |
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related-gene-list |
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SNOMED CT |
413836008 |
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Pearson marrow-pancreas syndrome |
https://ghr.nlm.nih.gov/condition/pearson-marrow-pancreas-syndrome |
Pearson marrow-pancreas syndrome is a rare condition; its prevalence is |
html:p |
Pearson marrow-pancreas syndrome is a severe disorder that usually begins in |
n |
not inherited |
mitochondrial DNA |
https://ghr.nlm.nih.gov/mitochondrial-dna |
Pearson syndrome |
db |
key |
2013-05 |
2017-12-29 |
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皮爾遜骨髓胰腺綜合徵 |
unknown. |
infancy. It causes problems with the development of blood-forming |
|
GTR |
C0342773 |
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(hematopoietic) cells in the bone marrow that have the potential to develop into |
db |
key |
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different types of blood cells. For this reason, Pearson marrow-pancreas |
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GeneReviews |
kss |
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syndrome is considered a bone marrow failure disorder. Function of the pancreas |
db |
key |
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and other organs can also be affected. |
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MeSH |
D028361 |
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html:p |
Most affected individuals have a shortage of red blood cells (anemia), which can |
db |
key |
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cause pale skin (pallor), weakness, and fatigue. Some of these individuals also |
OMIM |
557000 |
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have low numbers of white blood cells (neutropenia) and platelets |
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db |
key |
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(thrombocytopenia). Neutropenia can lead to frequent infections; |
|
Orphanet |
699 |
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thrombocytopenia sometimes causes easy bruising and bleeding. When visualized |
db |
key |
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under the microscope, bone marrow cells from affected individuals may appear |
SNOMED CT |
237985009 |
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abnormal. Often, early blood cells (hematopoietic precursors) have multiple |
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fluid-filled pockets called vacuoles. In addition, red blood cells in the bone |
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marrow can have an abnormal buildup of iron that appears as a ring of blue |
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staining in the cell after treatment with certain dyes. These abnormal cells are |
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called ring sideroblasts. |
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html:p |
In people with Pearson marrow-pancreas syndrome, the pancreas does not work as |
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well as usual. The pancreas produces and releases enzymes that aid in the |
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digestion of fats and proteins. Reduced function of this organ can lead to high |
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levels of fats in the liver (liver steatosis). The pancreas also releases |
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insulin, which helps maintain correct blood sugar levels. A small number of |
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individuals with Pearson marrow-pancreas syndrome develop diabetes, a condition |
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characterized by abnormally high blood sugar levels that can be caused by a |
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shortage of insulin. In addition, affected individuals may have scarring |
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(fibrosis) in the pancreas. |
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People with Pearson marrow-pancreas syndrome have a reduced ability to absorb |
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nutrients from the diet (malabsorption), and most affected infants have an |
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inability to grow and gain weight at the expected rate (failure to thrive). |
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Another common occurrence in people with this condition is buildup in the body |
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of a chemical called lactic acid (lactic acidosis), which can be |
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life-threatening. In addition, liver and kidney problems can develop in people |
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with this condition. |
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About half of children with this severe disorder die in infancy or early |
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childhood due to severe lactic acidosis or liver failure. Many of those who |
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survive develop signs and symptoms later in life of a related disorder called |
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Kearns-Sayre syndrome. This condition causes weakness of muscles around the eyes |
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and other problems. |
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related-gene-list |
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Pelizaeus-Merzbacher disease |
https://ghr.nlm.nih.gov/condition/pelizaeus-merzbacher-disease |
The prevalence of Pelizaeus-Merzbacher disease is estimated to be 1 in |
html:p |
Pelizaeus-Merzbacher disease is an inherited condition involving the brain and |
xr |
X-linked recessive |
PLP1 |
https://ghr.nlm.nih.gov/gene/PLP1 |
Cockayne-Pelizaeus-Merzbacher Disease |
db |
key |
2008-03 |
2017-12-29 |
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慢性兒童型腦硬化症 |
200,000 to 500,000 males in the United States. This condition rarely affects |
spinal cord (central nervous system). This disease is one of a group of genetic |
PMD |
GTR |
C0205711 |
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慢性兒童型硬化症 |
females. |
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disorders called leukodystrophies. Leukodystrophies are characterized by |
sclerosis; brain, Pelizaeus-Merzbacher |
db |
key |
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degeneration of myelin, which is the covering that protects nerves and promotes |
GeneReviews |
pmd |
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the efficient transmission of nerve impulses. Pelizaeus-Merzbacher disease is |
db |
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caused by an inability to form myelin (dysmyelination). As a result, |
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MeSH |
D020371 |
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individuals with this condition have impaired intellectual functions, such as |
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language and memory, and delayed motor skills, such as coordination and walking. |
OMIM |
312080 |
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Typically, motor skills are more severely affected than intellectual |
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function; motor skills development tends to occur more slowly and usually stops |
Orphanet |
702 |
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in a person's teens, followed by gradual deterioration. |
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html:p |
Pelizaeus-Merzbacher disease is divided into classic and connatal types. |
SNOMED CT |
64855000 |
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Although these two types differ in severity, their features can overlap. |
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html:p |
Classic Pelizaeus-Merzbacher disease is the more common type. Within the first |
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year of life, those affected with classic Pelizaeus-Merzbacher disease typically |
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experience weak muscle tone (hypotonia), involuntary movements of the eyes |
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(nystagmus), and delayed development of motor skills such as crawling or |
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walking. As the child gets older, nystagmus usually stops but other movement |
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disorders develop, including muscle stiffness (spasticity), problems with |
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movement and balance (ataxia), and involuntary jerking (choreiform movements). |
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html:p |
Connatal Pelizaeus-Merzbacher disease is the more severe of the two types. |
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Symptoms can begin in infancy and include problems feeding, a whistling sound |
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when breathing, progressive spasticity leading to joint deformities |
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(contractures) that restrict movement, speech difficulties (dysarthria), ataxia, |
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and seizures. Those affected with connatal Pelizaeus-Merzbacher disease show |
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little development of motor skills and intellectual function. |
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Pena-Shokeir syndrome |
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Pena-Shokeir綜合徵 |
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related-gene-list |
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Pendred syndrome |
https://ghr.nlm.nih.gov/condition/pendred-syndrome |
The prevalence of Pendred syndrome is unknown. However, researchers |
html:p |
Pendred syndrome is a disorder typically associated with hearing loss and a |
ar |
autosomal recessive |
SLC26A4 |
https://ghr.nlm.nih.gov/gene/SLC26A4 |
autosomal recessive sensorineural hearing impairment, enlarged vestibular |
db |
key |
2016-03 |
2017-12-29 |
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Pena-Shokeir綜合徵 |
estimate that it accounts for 7 to 8 percent of all hearing loss that is present |
thyroid condition called a goiter. A goiter is an enlargement of the thyroid |
aqueduct, and goiter |
GTR |
C0271829 |
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from birth (congenital hearing loss). |
gland, which is a butterfly-shaped organ at the base of the neck that produces |
deafness with goiter |
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hormones. If a goiter develops in a person with Pendred syndrome, it usually |
goiter-deafness syndrome |
GeneReviews |
pendred |
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forms between late childhood and early adulthood. In most cases, this |
Pendred's syndrome |
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enlargement does not cause the thyroid to malfunction. |
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ICD-10-CM |
E07.1 |
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html:p |
In most people with Pendred syndrome, severe to profound hearing loss caused by |
db |
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changes in the inner ear (sensorineural hearing loss) is evident at birth. Less |
MeSH |
D006044 |
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commonly, hearing loss does not develop until later in infancy or early |
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db |
key |
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childhood. Some affected individuals also have problems with balance caused by |
MeSH |
D006319 |
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dysfunction of the vestibular system, which is the part of the inner ear that |
db |
key |
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helps maintain the body's balance and orientation. |
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OMIM |
274600 |
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An inner ear abnormality called an enlarged vestibular aqueduct (EVA) is a |
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characteristic feature of Pendred syndrome. The vestibular aqueduct is a bony |
Orphanet |
705 |
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canal that connects the inner ear with the inside of the skull. Some affected |
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individuals also have an abnormally shaped cochlea, which is a snail-shaped |
SNOMED CT |
70348004 |
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structure in the inner ear that helps process sound. The combination of an |
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enlarged vestibular aqueduct and an abnormally shaped cochlea is known as |
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Mondini malformation. |
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Pendred syndrome shares features with other hearing loss and thyroid conditions, |
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and it is unclear whether they are best considered as separate disorders or as |
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a spectrum of related signs and symptoms. These conditions include a form of |
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nonsyndromic hearing loss (hearing loss that does not affect other parts of the |
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body) called DFNB4, and, in a small number of people, a form of congenital |
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hypothyroidism resulting from an abnormally small thyroid gland (thyroid |
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hypoplasia). All of these conditions are caused by mutations in the same gene. |
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related-gene-list |
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Periventricular heterotopia |
https://ghr.nlm.nih.gov/condition/periventricular-heterotopia |
Periventricular heterotopia is a rare condition. Its incidence is unknown. |
html:p |
Periventricular heterotopia is a condition in which nerve cells (neurons) do not |
ar |
autosomal recessive |
ARFGEF2 |
https://ghr.nlm.nih.gov/gene/ARFGEF2 |
familial nodular heterotopia |
db |
key |
2007-11 |
2017-12-29 |
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腦室周圍異位 |
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migrate properly during the early development of the fetal brain, from about |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
periventricular nodular heterotopia |
GTR |
C2678104 |
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the 6th week to the 24th week of pregnancy. Heterotopia means "out of place." In |
xd |
X-linked dominant |
FLNA |
https://ghr.nlm.nih.gov/gene/FLNA |
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normal brain development, neurons form in the periventricular region, located |
related-chromosome |
name |
ghr-page |
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GeneReviews |
x-pvh |
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around fluid-filled cavities (ventricles) near the center of the brain. The |
5 |
https://ghr.nlm.nih.gov/chromosome/5 |
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neurons then migrate outward to form the exterior of the brain (cerebral cortex) |
MeSH |
D054091 |
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in six onion-like layers. In periventricular heterotopia, some neurons fail to |
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migrate to their proper position and form clumps around the ventricles. |
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OMIM |
300049 |
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html:p |
Periventricular heterotopia usually becomes evident when seizures first appear, |
db |
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often during the teenage years. The nodules around the ventricles are then |
OMIM |
608097 |
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typically discovered when magnetic resonance imaging (MRI) studies are done. |
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Affected individuals usually have normal intelligence, although some have mild |
OMIM |
608098 |
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intellectual disability. Difficulty with reading and spelling (dyslexia) has |
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been reported in some people with periventricular heterotopia. |
|
Orphanet |
98892 |
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html:p |
Less commonly, individuals with periventricular heterotopia may have more severe |
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brain malformations, small head size (microcephaly), developmental delays, |
SNOMED CT |
253150002 |
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recurrent infections, blood vessel abnormalities, or other problems. |
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Periventricular heterotopia may also occur in association with other conditions |
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such as Ehlers-Danlos syndrome, which results in extremely flexible joints, skin |
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that stretches easily, and fragile blood vessels. |
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related-gene-list |
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Permanent neonatal diabetes mellitus |
https://ghr.nlm.nih.gov/condition/permanent-neonatal-diabetes-mellitus |
About 1 in 400,000 infants are diagnosed with diabetes mellitus in the |
html:p |
Permanent neonatal diabetes mellitus is a type of diabetes that first appears |
ad |
autosomal dominant |
ABCC8 |
https://ghr.nlm.nih.gov/gene/ABCC8 |
PNDM |
db |
key |
2011-07 |
2017-12-29 |
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永久性新生兒糖尿病 |
first few months of life. However, in about half of these babies the condition |
within the first 6 months of life and persists throughout the lifespan. This |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1833104 |
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is transient and goes away on its own by age 18 months. The remainder are |
form of diabetes is characterized by high blood sugar levels (hyperglycemia) |
ar |
autosomal recessive |
GCK |
https://ghr.nlm.nih.gov/gene/GCK |
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considered to have permanent neonatal diabetes mellitus. |
resulting from a shortage of the hormone insulin. Insulin controls how much |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1850096 |
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glucose (a type of sugar) is passed from the blood into cells for conversion to |
INS |
https://ghr.nlm.nih.gov/gene/INS |
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energy. |
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related-gene |
gene-symbol |
ghr-page |
|
GeneReviews |
dmn |
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html:p |
Individuals with permanent neonatal diabetes mellitus experience slow growth |
KCNJ11 |
https://ghr.nlm.nih.gov/gene/KCNJ11 |
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before birth (intrauterine growth retardation). Affected infants have |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
P70.2 |
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hyperglycemia and an excessive loss of fluids (dehydration) and are unable to |
PDX1 |
https://ghr.nlm.nih.gov/gene/PDX1 |
db |
key |
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gain weight and grow at the expected rate (failure to thrive). |
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MeSH |
D003920 |
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html:p |
In some cases, people with permanent neonatal diabetes mellitus also have |
db |
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certain neurological problems, including developmental delay and recurrent |
OMIM |
260370 |
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seizures (epilepsy). This combination of developmental delay, epilepsy, and |
db |
key |
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neonatal diabetes is called DEND syndrome. Intermediate DEND syndrome is a |
OMIM |
606176 |
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similar combination but with milder developmental delay and without epilepsy. |
db |
key |
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html:p |
A small number of individuals with permanent neonatal diabetes mellitus have an |
SNOMED CT |
609565001 |
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underdeveloped pancreas. Because the pancreas produces digestive enzymes as well |
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as secreting insulin and other hormones, affected individuals experience |
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digestive problems such as fatty stools and an inability to absorb fat-soluble |
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vitamins. |
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related-gene-list |
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Peroxisomal acyl-CoA oxidase deficiency |
https://ghr.nlm.nih.gov/condition/peroxisomal-acyl-coa-oxidase-deficiency |
Peroxisomal acyl-CoA oxidase deficiency is a rare disorder. Its prevalence |
html:p |
Peroxisomal acyl-CoA oxidase deficiency is a disorder that causes deterioration |
ar |
autosomal recessive |
ACOX1 |
https://ghr.nlm.nih.gov/gene/ACOX1 |
acyl-coenzyme A oxidase deficiency |
db |
key |
2014-04 |
2017-12-29 |
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is unknown. Only a few dozen cases have been described in the medical |
of nervous system functions (neurodegeneration) beginning in infancy. Newborns |
pseudo-NALD |
GTR |
C1849678 |
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literature. |
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with peroxisomal acyl-CoA oxidase deficiency have weak muscle tone (hypotonia) |
pseudoadrenoleukodystrophy |
db |
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and seizures. They may have unusual facial features, including widely spaced |
pseudoneonatal adrenoleukodystrophy |
GeneReviews |
leukodys-ov |
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eyes (hypertelorism), a low nasal bridge, and low-set ears. Extra fingers or |
straight-chain acyl-CoA oxidase deficiency |
db |
key |
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toes (polydactyly) or an enlarged liver (hepatomegaly) also occur in some |
MeSH |
D008052 |
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affected individuals. |
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db |
key |
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html:p |
Most babies with peroxisomal acyl-CoA oxidase deficiency learn to walk and begin |
MeSH |
D018901 |
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speaking, but they experience a gradual loss of these skills (developmental |
db |
key |
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regression), usually beginning between the ages of 1 and 3. As the condition |
OMIM |
264470 |
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gets worse, affected children develop exaggerated reflexes (hyperreflexia), |
db |
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increased muscle tone (hypertonia), more severe and recurrent seizures |
|
Orphanet |
2971 |
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(epilepsy), and loss of vision and hearing. Most children with peroxisomal |
db |
key |
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acyl-CoA oxidase deficiency do not survive past early childhood. |
|
SNOMED CT |
238069004 |
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related-gene-list |
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Perrault syndrome |
https://ghr.nlm.nih.gov/condition/perrault-syndrome |
Perrault syndrome is a rare disorder; fewer than 100 affected individuals |
html:p |
Perrault syndrome is a rare condition that causes different patterns of signs |
ar |
autosomal recessive |
CLPP |
https://ghr.nlm.nih.gov/gene/CLPP |
gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance |
db |
key |
2014-12 |
2017-12-29 |
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佩羅綜合徵 |
have been described in the medical literature. It is likely that the condition |
and symptoms in affected males and females. A key feature of this condition is |
related-gene |
gene-symbol |
ghr-page |
gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance |
GTR |
C0685838 |
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is underdiagnosed, because males without an affected sister will likely be |
hearing loss, which occurs in both males and females. Affected females also have |
HARS2 |
https://ghr.nlm.nih.gov/gene/HARS2 |
gonadal dysgenesis, XX type, with deafness |
db |
key |
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misdiagnosed as having isolated (nonsyndromic) hearing loss rather than Perrault |
abnormalities of the ovaries. Neurological problems occur in some affected |
related-gene |
gene-symbol |
ghr-page |
ovarian dysgenesis with sensorineural deafness |
GTR |
C3554105 |
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syndrome. |
males and females. |
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HSD17B4 |
https://ghr.nlm.nih.gov/gene/HSD17B4 |
db |
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html:p |
In Perrault syndrome, the problems with hearing are caused by changes in the |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3809105 |
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inner ear, which is known as sensorineural hearing loss. The impairment usually |
LARS2 |
https://ghr.nlm.nih.gov/gene/LARS2 |
db |
key |
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affects both ears and can be present at birth or begin in early childhood. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C4015307 |
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Unless hearing is completely impaired at birth, the hearing problems worsen over |
TWNK |
https://ghr.nlm.nih.gov/gene/TWNK |
db |
key |
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time. |
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GeneReviews |
perrault |
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html:p |
Females with Perrault syndrome have abnormal or missing ovaries (ovarian |
db |
key |
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dysgenesis), although their external genitalia are normal. Severely affected |
MeSH |
D006319 |
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girls do not begin menstruation by age 16 (primary amenorrhea), and most never |
db |
key |
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have a menstrual period. Less severely affected women have an early loss of |
MeSH |
D023961 |
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ovarian function (primary ovarian insufficiency); their menstrual periods begin |
db |
key |
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in adolescence, but they become less frequent and eventually stop before age 40. |
OMIM |
233400 |
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Women with Perrault syndrome may have difficulty conceiving or be unable to |
db |
key |
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have biological children (infertile). |
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OMIM |
614129 |
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html:p |
Neurological problems in individuals with Perrault syndrome can include |
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db |
key |
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intellectual disability, difficulty with balance and coordinating movements |
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OMIM |
614926 |
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(ataxia), and loss of sensation and weakness in the limbs (peripheral |
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db |
key |
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neuropathy). However, not everyone with this condition has neurological |
|
OMIM |
615300 |
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problems. |
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db |
key |
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OMIM |
616138 |
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db |
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Orphanet |
243 |
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db |
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Orphanet |
2855 |
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db |
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related-gene-list |
|
SNOMED CT |
93466004 |
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Perry syndrome |
https://ghr.nlm.nih.gov/condition/perry-syndrome |
Perry syndrome is very rare; about 50 affected individuals have been |
html:p |
Perry syndrome is a progressive brain disease that is characterized by four |
ad |
autosomal dominant |
DCTN1 |
https://ghr.nlm.nih.gov/gene/DCTN1 |
parkinsonism with alveolar hypoventilation and mental depression |
db |
key |
2015-09 |
2017-12-29 |
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|
佩里綜合症 |
reported worldwide. |
major features: a pattern of movement abnormalities known as parkinsonism, |
GTR |
C1868594 |
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psychiatric changes, weight loss, and abnormally slow breathing |
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db |
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(hypoventilation). These signs and symptoms typically appear in a person's |
GeneReviews |
perry |
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forties or fifties. |
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db |
key |
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html:p |
Parkinsonism and psychiatric changes are usually the earliest features of Perry |
MeSH |
D020734 |
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syndrome. Signs of parkinsonism include unusually slow movements (bradykinesia), |
db |
key |
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stiffness, and tremors. These movement abnormalities are often accompanied by |
OMIM |
168605 |
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changes in personality and behavior. The most frequent psychiatric changes that |
db |
key |
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occur in people with Perry syndrome include depression, a general loss of |
Orphanet |
178509 |
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interest and enthusiasm (apathy), withdrawal from friends and family, and |
db |
key |
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suicidal thoughts. Many affected individuals also experience significant, |
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SNOMED CT |
699184009 |
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unexplained weight loss early in the disease. |
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html:p |
Hypoventilation is a later feature of Perry syndrome. Abnormally slow breathing |
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most often occurs at night, causing affected individuals to wake up frequently. |
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As the disease worsens, hypoventilation can result in a life-threatening lack of |
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oxygen and respiratory failure. |
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html:p |
People with Perry syndrome typically survive for about 5 years after signs and |
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symptoms first appear. Most affected individuals ultimately die of respiratory |
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failure or pneumonia. Suicide is another cause of death in this condition. |
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Persistent Hyperinsulinemic Hypoglycemia of Infancy; PHHI |
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持續性幼兒型胰島素過度分泌低血糖症 |
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related-gene-list |
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Persistent Müllerian duct syndrome |
https://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome |
Persistent Müllerian duct syndrome is a rare disorder; however, the |
html:p |
Persistent Müllerian duct syndrome is a disorder of sexual development that |
ar |
autosomal recessive |
AMH |
https://ghr.nlm.nih.gov/gene/AMH |
persistent oviduct syndrome |
db |
key |
2011-03 |
2017-12-29 |
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持續性Müllerian管綜合症 |
prevalence of the condition is unknown. |
affects males. Males with this disorder have normal male reproductive organs, |
related-gene |
gene-symbol |
ghr-page |
PMDS |
GTR |
C1849930 |
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though they also have a uterus and fallopian tubes, which are female |
AMHR2 |
https://ghr.nlm.nih.gov/gene/AMHR2 |
db |
key |
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reproductive organs. The uterus and fallopian tubes are derived from a structure |
MeSH |
D058490 |
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called the Müllerian duct during development of the fetus. The Müllerian duct |
db |
key |
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usually breaks down during early development in males, but it is retained in |
OMIM |
261550 |
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those with persistent Müllerian duct syndrome. Affected individuals have the |
db |
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normal chromosomes of a male (46,XY) and normal external male genitalia. |
Orphanet |
2856 |
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html:p |
The first noted signs and symptoms in males with persistent Müllerian duct |
db |
key |
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syndrome are usually undescended testes (cryptorchidism) or soft out-pouchings |
SNOMED CT |
702358005 |
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in the lower abdomen (inguinal hernias). The uterus and fallopian tubes are |
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typically discovered when surgery is performed to treat these conditions. |
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html:p |
The testes and female reproductive organs can be located in unusual positions in |
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persistent Müllerian duct syndrome. Occasionally, both testes are undescended |
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(bilateral cryptorchidism) and the uterus is in the pelvis. More often, one |
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testis has descended into the scrotum normally, and one has not. Sometimes, the |
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descended testis pulls the fallopian tube and uterus into the track through |
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which it has descended. This creates a condition called hernia uteri inguinalis, |
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a form of inguinal hernia. In other cases, the undescended testis from the |
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other side of the body is also pulled into the same track, forming an inguinal |
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hernia. This condition, called transverse testicular ectopia, is common in |
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people with persistent Müllerian duct syndrome. |
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html:p |
Other effects of persistent Müllerian duct syndrome may include the inability to |
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father children (infertility) or blood in the semen (hematospermia). Also, the |
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undescended testes may break down (degenerate) or develop cancer if left |
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untreated. |
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related-gene-list |
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Peters anomaly |
https://ghr.nlm.nih.gov/condition/peters-anomaly |
The exact prevalence of Peters anomaly is unknown. This condition is one of |
html:p |
Peters anomaly is characterized by eye problems that occur in an area at the |
ad |
autosomal dominant |
CYP1B1 |
https://ghr.nlm.nih.gov/gene/CYP1B1 |
irido-corneo-trabecular dysgenesis |
db |
key |
2014-01 |
2017-12-29 |
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彼得斯異常 |
a group of disorders known as congenital corneal opacities, which affect 3 to 6 |
front part of the eye known as the anterior segment. The anterior segment |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Peters congenital glaucoma |
GTR |
C0344559 |
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(Vision) |
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individuals per 100,000. |
consists of structures including the lens, the colored part (iris) of the eye, |
ar |
autosomal recessive |
FOXC1 |
https://ghr.nlm.nih.gov/gene/FOXC1 |
db |
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and the clear covering of the eye (cornea). During development of the eye, the |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
Q13.4 |
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elements of the anterior segment form separate structures. However, in Peters |
PAX6 |
https://ghr.nlm.nih.gov/gene/PAX6 |
db |
key |
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anomaly, development of the anterior segment is abnormal, leading to incomplete |
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D003318 |
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separation of the cornea from the iris or the lens. As a result, the cornea is |
PITX2 |
https://ghr.nlm.nih.gov/gene/PITX2 |
db |
key |
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cloudy (opaque), which causes blurred vision. The opaque area (opacity) of the |
OMIM |
604229 |
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cornea varies in size and intensity from a small, faint streak to a large, white |
db |
key |
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cloudy area that covers the front surface of the eye. Additionally, the |
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Orphanet |
708 |
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location of the opacity varies; the cloudiness may be at the center of the |
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db |
key |
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cornea or off-center. Large, centrally located opacities tend to cause poorer |
SNOMED CT |
204153003 |
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vision than smaller, off-center ones. |
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html:p |
Nearly half of the individuals affected with Peters anomaly have low vision |
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early in life and about a quarter are legally blind. Due to a lack of visual |
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stimulation, some individuals develop "lazy eye" (amblyopia). Peters anomaly is |
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often associated with other eye problems, such as increased pressure within the |
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eye (glaucoma), clouding of the lens (cataract), and unusually small eyeballs |
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(microphthalmia). In most cases, Peters anomaly is bilateral, which means that |
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it affects both eyes, although the level of vision impairment may be different |
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in each eye. These individuals may have eyes that do not point in the same |
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direction (strabismus). In some people with Peters anomaly, corneal clouding |
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improves over time leading to improved vision. |
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html:p |
There are two types of Peters anomaly, which are distinguished by their signs |
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and symptoms. Peters anomaly type I is characterized by an incomplete separation |
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of the cornea and iris and mild to moderate corneal opacity. Type II is |
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characterized by an incomplete separation of the cornea and lens and severe |
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corneal opacity that may involve the entire cornea. |
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related-gene-list |
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Peters plus syndrome |
https://ghr.nlm.nih.gov/condition/peters-plus-syndrome |
Peters plus syndrome is a rare disorder; its incidence is unknown. Fewer |
html:p |
Peters plus syndrome is an inherited condition that is characterized by eye |
ar |
autosomal recessive |
B3GLCT |
https://ghr.nlm.nih.gov/gene/B3GLCT |
Krause-Kivlin syndrome |
db |
key |
2013-09 |
2017-12-29 |
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彼得斯加綜合症 |
than 80 people with this condition have been reported worldwide. |
abnormalities, short stature, an opening in the lip (cleft lip) with or without |
Krause-van Schooneveld-Kivlin syndrome |
GTR |
C0796012 |
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an opening in the roof of the mouth (cleft palate), distinctive facial features, |
Peters anomaly-short limb dwarfism syndrome |
db |
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and intellectual disability. |
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Peters'-plus syndrome |
GeneReviews |
peters-plus |
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html:p |
The eye problems in Peters plus syndrome occur in an area at the front part of |
Peters' plus syndrome |
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the eye known as the anterior segment. The anterior segment consists of |
MeSH |
D015785 |
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structures including the lens, the colored part of the eye (iris), and the clear |
db |
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covering of the eye (cornea). An eye problem called Peters anomaly is the most |
OMIM |
261540 |
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common anterior segment abnormality seen in Peters plus syndrome. Peters anomaly |
db |
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involves abnormal development of the anterior segment, which results in a |
Orphanet |
709 |
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cornea that is cloudy (opaque) and causes blurred vision. Peters anomaly may |
db |
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also be associated with clouding of the lenses of the eyes (cataracts) or other |
SNOMED CT |
449817000 |
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lens abnormalities. Peters anomaly is usually bilateral, which means that it |
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affects both eyes. The severity of corneal clouding and other eye problems can |
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vary between individuals with Peters plus syndrome, even among members of the |
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same family. Many people with Peters plus syndrome experience vision loss that |
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worsens over time. |
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html:p |
All people with Peters plus syndrome have short stature, which is evident before |
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birth. The height of adult males with this condition ranges from 141 |
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centimeters to 155 centimeters (4 feet, 7 inches to 5 feet, 1 inch), and the |
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height of adult females ranges from 128 centimeters to 151 centimeters (4 feet, |
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2 inches to 4 feet, 11 inches). Individuals with Peters plus syndrome also have |
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shortened upper limbs (rhizomelia) and shortened fingers and toes |
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(brachydactyly). |
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html:p |
The characteristic facial features of Peters plus syndrome include a prominent |
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forehead; small, malformed ears; narrow eyes; a long area between the nose and |
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mouth (philtrum); and a pronounced double curve of the upper lip (Cupid's bow). |
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The neck may also be broad and webbed. A cleft lip with or without a cleft |
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palate is present in about half of the people with this condition. |
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html:p |
Developmental milestones, such as walking and speech, are delayed in most |
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children with Peters plus syndrome. Most affected individuals also have |
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intellectual disability that can range from mild to severe, although some have |
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normal intelligence. The severity of physical features does not predict the |
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level of intellectual disability. |
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html:p |
Less common signs and symptoms of Peters plus syndrome include heart defects, |
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structural brain abnormalities, hearing loss, and kidney or genital |
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abnormalities. |
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related-gene-list |
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Peutz-Jeghers syndrome |
https://ghr.nlm.nih.gov/condition/peutz-jeghers-syndrome |
The prevalence of this condition is uncertain; estimates range from 1 in |
html:p |
Peutz-Jeghers syndrome is characterized by the development of noncancerous |
ad |
autosomal dominant |
STK11 |
https://ghr.nlm.nih.gov/gene/STK11 |
intestinal polyposis-cutaneous pigmentation syndrome |
db |
key |
2013-02 |
2017-12-29 |
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黑斑息肉症候群 |
25,000 to 300,000 individuals. |
growths called hamartomatous polyps in the gastrointestinal tract (particularly |
lentiginosis, perioral |
GTR |
C0031269 |
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Peutz-Jeghers症候群 |
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the stomach and intestines) and a greatly increased risk of developing certain |
periorificial lentiginosis syndrome |
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(Cancer) |
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types of cancer. |
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Peutz-Jeghers polyposis |
GeneReviews |
pjs |
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html:p |
Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on |
PJS |
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key |
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the lips, around and inside the mouth, near the eyes and nostrils, and around |
polyposis, hamartomatous intestinal |
ICD-10-CM |
Q85.8 |
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the anus. These spots may also occur on the hands and feet. They appear during |
polyposis, intestinal, II |
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childhood and often fade as the person gets older. In addition, most people with |
polyps-and-spots syndrome |
MeSH |
D010580 |
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Peutz-Jeghers syndrome develop multiple polyps in the stomach and intestines |
db |
key |
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during childhood or adolescence. Polyps can cause health problems such as |
OMIM |
175200 |
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recurrent bowel obstructions, chronic bleeding, and abdominal pain. |
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html:p |
People with Peutz-Jeghers syndrome have a high risk of developing cancer during |
Orphanet |
2869 |
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their lifetimes. Cancers of the gastrointestinal tract, pancreas, cervix, ovary, |
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and breast are among the most commonly reported tumors. |
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SNOMED CT |
54411001 |
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related-gene-list |
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Pfeiffer syndrome |
https://ghr.nlm.nih.gov/condition/pfeiffer-syndrome |
Pfeiffer syndrome affects about 1 in 100,000 individuals. |
html:p |
Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of |
ad |
autosomal dominant |
FGFR1 |
https://ghr.nlm.nih.gov/gene/FGFR1 |
acrocephalosyndactyly, type V |
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2017-01 |
2017-12-29 |
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Pfeiffer 症候群 |
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certain skull bones (craniosynostosis). This early fusion prevents the skull |
related-gene |
gene-symbol |
ghr-page |
ACS V |
GTR |
C1863356 |
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菲佛氏症 |
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from growing normally and affects the shape of the head and face. Pfeiffer |
FGFR2 |
https://ghr.nlm.nih.gov/gene/FGFR2 |
ACS5 |
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syndrome also affects bones in the hands and feet. |
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craniofacial-skeletal-dermatologic dysplasia |
GeneReviews |
craniosynostosis |
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html:p |
Many of the characteristic facial features of Pfeiffer syndrome result from |
Noack syndrome |
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premature fusion of the skull bones. Abnormal growth of these bones leads to |
MeSH |
D000168 |
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bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a |
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beaked nose. More than half of all children with Pfeiffer syndrome have hearing |
OMIM |
101600 |
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loss; dental problems are also common. |
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html:p |
In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and |
Orphanet |
710 |
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bend away from the other digits. Unusually short fingers and toes |
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(brachydactyly) are also common, and there may be some webbing or fusion between |
SNOMED CT |
70410008 |
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the digits (syndactyly). |
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html:p |
Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic |
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Pfeiffer syndrome, has symptoms as described above. Most individuals with type 1 |
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Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and |
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3 are more severe forms of Pfeiffer syndrome that often involve problems with |
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the nervous system. The premature fusion of skull bones can limit brain growth, |
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leading to delayed development and other neurological problems. In addition, |
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individuals with type 2 or 3 can have fusion of the bones (ankylosis) in the |
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elbow or other joints, limiting mobility, and abnormalities of the face and |
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airways, which can cause life-threatening breathing problems. Type 2 is |
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distinguished from type 3 by the presence of a cloverleaf-shaped head, which is |
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caused by more extensive fusion of bones in the skull. |
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related-gene-list |
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Phenylketonuria, PKU |
https://ghr.nlm.nih.gov/condition/phenylketonuria |
The occurrence of PKU varies among ethnic groups and geographic regions |
html:p |
Phenylketonuria (commonly known as PKU) is an inherited disorder that increases |
ar |
autosomal recessive |
PAH |
https://ghr.nlm.nih.gov/gene/PAH |
deficiency disease, phenylalanine hydroxylase |
db |
key |
2017-10 |
2017-12-29 |
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苯酮尿症 |
|
worldwide. In the United States, PKU occurs in 1 in 10,000 to 15,000 newborns. |
the levels of a substance called phenylalanine in the blood. Phenylalanine is a |
Folling disease |
GTR |
C0031485 |
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Most cases of PKU are detected shortly after birth by newborn screening, and |
building block of proteins (an amino acid) that is obtained through the diet. |
Folling's disease |
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treatment is started promptly. As a result, the severe signs and symptoms of |
It is found in all proteins and in some artificial sweeteners. If PKU is not |
PAH deficiency |
GeneReviews |
pku |
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classic PKU are rarely seen. |
treated, phenylalanine can build up to harmful levels in the body, causing |
Phenylalanine Hydroxylase Deficiency |
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intellectual disability and other serious health problems. |
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phenylalanine hydroxylase deficiency |
ICD-10-CM |
E70.0 |
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html:p |
The signs and symptoms of PKU vary from mild to severe. The most severe form of |
phenylalanine hydroxylase deficiency disease |
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this disorder is known as classic PKU. Infants with classic PKU appear normal |
PKU |
MeSH |
D010661 |
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until they are a few months old. Without treatment, these children develop |
db |
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permanent intellectual disability. Seizures, delayed development, behavioral |
OMIM |
261600 |
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problems, and psychiatric disorders are also common. Untreated individuals may |
db |
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have a musty or mouse-like odor as a side effect of excess phenylalanine in the |
Orphanet |
716 |
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body. Children with classic PKU tend to have lighter skin and hair than |
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unaffected family members and are also likely to have skin disorders such as |
SNOMED CT |
297225000 |
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eczema. |
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html:p |
Less severe forms of this condition, sometimes called variant PKU and non-PKU |
SNOMED CT |
60590005 |
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hyperphenylalaninemia, have a smaller risk of brain damage. People with very |
db |
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mild cases may not require treatment with a low-phenylalanine diet. |
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SNOMED CT |
7573000 |
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html:p |
Babies born to mothers who have PKU and uncontrolled phenylalanine levels (women |
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who no longer follow a low-phenylalanine diet) have a significant risk of |
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intellectual disability because they are exposed to very high levels of |
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phenylalanine before birth. These infants may also have a low birth weight and |
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grow more slowly than other children. Other characteristic medical problems |
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include heart defects or other heart problems, an abnormally small head size |
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(microcephaly), and behavioral problems. Women with PKU and uncontrolled |
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phenylalanine levels also have an increased risk of pregnancy loss. |
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related-gene-list |
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Phosphoglycerate dehydrogenase deficiency |
https://ghr.nlm.nih.gov/condition/phosphoglycerate-dehydrogenase-deficiency |
This condition is likely a rare disorder, but its prevalence is unknown. At |
html:p |
Phosphoglycerate dehydrogenase deficiency is a condition characterized by an |
ar |
autosomal recessive |
PHGDH |
https://ghr.nlm.nih.gov/gene/PHGDH |
3-PGDH deficiency |
db |
key |
2014-05 |
2017-12-29 |
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磷酸甘油酸脫氫酶缺乏症 |
least 15 cases have been described in the scientific literature. |
unusually small head size (microcephaly); impaired development of physical |
3-phosphoglycerate dehydrogenase deficiency |
GTR |
C1866174 |
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reactions, movements, and speech (psychomotor retardation); and recurrent |
PHGDH deficiency |
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seizures (epilepsy). Different types of phosphoglycerate dehydrogenase |
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MeSH |
D000592 |
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deficiency have been described; they are distinguished by their severity and the |
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age at which symptoms first begin. Most affected individuals have the infantile |
OMIM |
601815 |
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form, which is the most severe form, and are affected from infancy. Symptoms of |
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the juvenile and adult types appear later in life; these types are very rare. |
Orphanet |
79351 |
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html:p |
In phosphoglycerate dehydrogenase deficiency there is a progressive loss of |
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brain cells leading to a loss of brain tissue (brain atrophy), specifically |
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SNOMED CT |
303098002 |
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affecting the fatty tissue known as myelin that surrounds nerve cells |
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(hypomyelination). Frequently, the tissue that connects the two halves of the |
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brain (corpus callosum) is small and thin, and the fluid-filled cavities |
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(ventricles) near the center of the brain are enlarged. Because development of |
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the brain is disrupted, the head does not grow at the same rate as the body, so |
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it appears that the head is getting smaller as the body grows (progressive |
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microcephaly). Poor brain growth leads to an inability to achieve many |
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developmental milestones such as sitting unsupported and speaking. Many affected |
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infants also have difficulty feeding. |
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html:p |
The seizures in phosphoglycerate dehydrogenase deficiency can vary in type. |
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Recurrent muscle contractions called infantile spasms are typical early in the |
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disorder. Without early treatment, seizures may progress to tonic-clonic |
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seizures, which involve a loss of consciousness, muscle rigidity, and |
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convulsions; myoclonic seizures, which involve rapid, uncontrolled muscle jerks; |
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or drop attacks, which are sudden episodes of weak muscle tone. |
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html:p |
Individuals with the infantile form of phosphoglycerate dehydrogenase deficiency |
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develop many of the features described above. Individuals with the juvenile |
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form typically have epilepsy as well as mild developmental delay and |
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intellectual disability. Only one case of the adult form has been reported; |
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signs and symptoms began in mid-adulthood and included mild intellectual |
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disability; difficulty coordinating movements (ataxia); and numbness, tingling, |
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and pain in the arms and legs (sensory neuropathy). |
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related-gene-list |
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Phosphoglycerate kinase deficiency |
https://ghr.nlm.nih.gov/condition/phosphoglycerate-kinase-deficiency |
Phosphoglycerate kinase deficiency appears to be a rare disorder. About 30 |
html:p |
Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's |
xr |
X-linked recessive |
PGK1 |
https://ghr.nlm.nih.gov/gene/PGK1 |
PGK deficiency |
db |
key |
2011-12 |
2017-12-29 |
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磷酸甘油酸激酶缺乏症 |
families with affected members have been reported in the scientific literature. |
ability to break down the simple sugar glucose, which is the primary energy |
PGK1 deficiency |
GTR |
C0684324 |
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source for most cells. Researchers have described two major forms of the |
phosphoglycerate kinase 1 deficiency |
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condition. The most common form is sometimes called the hemolytic form. It is |
GTR |
C1970848 |
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characterized by a condition known as chronic hemolytic anemia, in which red |
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blood cells are broken down (undergo hemolysis) prematurely. Chronic hemolytic |
MeSH |
D008661 |
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anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin |
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(jaundice), fatigue, shortness of breath, and a rapid heart rate. Some people |
OMIM |
300653 |
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with the hemolytic form also have symptoms related to abnormal brain function, |
db |
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including intellectual disability, seizures, and stroke. |
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Orphanet |
713 |
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html:p |
The other form of phosphoglycerate kinase deficiency is often called the |
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myopathic form. It primarily affects muscles, causing progressive weakness, |
SNOMED CT |
124335006 |
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pain, and cramping, particularly with exercise. During exercise, muscle tissue |
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can be broken down, releasing a protein called myoglobin. This protein is |
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processed by the kidneys and released in the urine (myoglobinuria). If |
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untreated, myoglobinuria can lead to kidney failure. |
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html:p |
Most people with phosphoglycerate kinase deficiency have either the hemolytic |
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form or the myopathic form. However, other combinations of signs and symptoms |
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(such as muscle weakness with neurologic symptoms) have also been reported. |
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related-gene-list |
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Phosphoglycerate mutase deficiency |
https://ghr.nlm.nih.gov/condition/phosphoglycerate-mutase-deficiency |
Phosphoglycerate mutase deficiency is a rare condition; about 15 affected |
html:p |
Phosphoglycerate mutase deficiency is a disorder that primarily affects muscles |
ar |
autosomal recessive |
PGAM2 |
https://ghr.nlm.nih.gov/gene/PGAM2 |
deficiency mutase phosphoglycerate |
db |
key |
2011-12 |
2017-12-29 |
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磷酸甘油酸變位酶缺乏症 |
people have been reported in the medical literature. Most affected individuals |
used for movement (skeletal muscles). Beginning in childhood or adolescence, |
glycogen storage disease X |
GTR |
C0268149 |
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have been African American. |
affected individuals experience muscle aches or cramping following strenuous |
GSD X |
db |
key |
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physical activity. Some people with this condition also have recurrent episodes |
GSD10 |
MeSH |
D008661 |
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of myoglobinuria. Myoglobinuria occurs when muscle tissue breaks down abnormally |
GSDX |
db |
key |
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and releases a protein called myoglobin, which is processed by the kidneys and |
myopathy due to phosphoglycerate mutase deficiency |
OMIM |
261670 |
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released in the urine. If untreated, myoglobinuria can lead to kidney failure. |
PGAM deficiency |
db |
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html:p |
In some cases of phosphoglycerate mutase deficiency, microscopic tube-shaped |
PGAMM deficiency |
Orphanet |
97234 |
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structures called tubular aggregates are seen in muscle fibers. It is unclear |
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how tubular aggregates are associated with the signs and symptoms of the |
SNOMED CT |
124675005 |
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disorder. |
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related-gene-list |
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SNOMED CT |
37666005 |
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Phosphoribosylpyrophosphate synthetase superactivity |
https://ghr.nlm.nih.gov/condition/phosphoribosylpyrophosphate-synthetase-superac |
PRS superactivity is believed to be a rare disorder. Approximately 30 |
html:p |
Phosphoribosylpyrophosphate synthetase superactivity (PRS superactivity) is |
xd |
X-linked dominant |
PRPS1 |
https://ghr.nlm.nih.gov/gene/PRPS1 |
gout, PRPS-related |
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key |
2009-09 |
2017-12-29 |
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磷酸核糖焦磷酸合成酶超活性 |
tivity |
families with the condition have been reported. More than two thirds of these |
characterized by the overproduction and accumulation of uric acid (a waste |
PRPP synthetase overactivity |
GTR |
C1970827 |
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families are affected by the milder form of the disease. |
product of normal chemical processes) in the blood and urine. The overproduction |
PRPP synthetase superactivity |
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of uric acid can lead to gout, which is arthritis caused by an accumulation of |
PRPS1 superactivity |
GeneReviews |
prs |
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uric acid crystals in the joints. Individuals with PRS superactivity also |
PRS overactivity |
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develop kidney or bladder stones that may result in episodes of acute kidney |
PRS superactivity |
MeSH |
D033461 |
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failure. |
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html:p |
There are two forms of PRS superactivity, a severe form that begins in infancy |
OMIM |
300661 |
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or early childhood, and a milder form that typically appears in late adolescence |
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or early adulthood. In both forms, a kidney or bladder stone is often the first |
Orphanet |
3222 |
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symptom. Gout and impairment of kidney function may develop if the condition is |
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not adequately controlled with medication and dietary restrictions. People with |
SNOMED CT |
239847002 |
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the severe form may also have neurological problems, including hearing loss |
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caused by changes in the inner ear (sensorineural hearing loss), weak muscle |
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tone (hypotonia), impaired muscle coordination (ataxia), and developmental |
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delay. |
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related-gene-list |
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Piebaldism |
https://ghr.nlm.nih.gov/condition/piebaldism |
The prevalence of piebaldism is unknown. |
html:p |
Piebaldism is a condition characterized by the absence of cells called |
ad |
autosomal dominant |
KIT |
https://ghr.nlm.nih.gov/gene/KIT |
PBT |
db |
key |
2013-02 |
2017-12-29 |
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花斑 |
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melanocytes in certain areas of the skin and hair. Melanocytes produce the |
related-gene |
gene-symbol |
ghr-page |
piebald trait |
GTR |
C0080024 |
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pigment melanin, which contributes to hair, eye, and skin color. The absence of |
SNAI2 |
https://ghr.nlm.nih.gov/gene/SNAI2 |
db |
key |
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melanocytes leads to patches of skin and hair that are lighter than normal. |
MeSH |
D016116 |
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Approximately 90 percent of affected individuals have a white section of hair |
db |
key |
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near their front hairline (a white forelock). The eyelashes, the eyebrows, and |
OMIM |
172800 |
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the skin under the forelock may also be unpigmented. |
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html:p |
People with piebaldism usually have other unpigmented patches of skin, typically |
Orphanet |
2884 |
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appearing symmetrically on both sides of the body. There may be spots or |
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patches of pigmented skin within or around the borders of the unpigmented areas. |
SNOMED CT |
718122005 |
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html:p |
In most cases, the unpigmented areas are present at birth and do not increase in |
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size or number. The unpigmented patches are at increased risk of sunburn and |
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skin cancer related to excessive sun exposure. Some people with piebaldism are |
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self-conscious about the appearance of the unpigmented patches, which may be |
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more noticeable in darker-skinned people. Aside from these potential issues, |
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this condition has no effect on the health of the affected individual. |
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related-gene-list |
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Pilomatricoma |
https://ghr.nlm.nih.gov/condition/pilomatricoma |
Pilomatricoma is an uncommon tumor. The exact prevalence is unknown, but |
html:p |
Pilomatricoma, also known as pilomatrixoma, is a type of noncancerous (benign) |
u |
pattern unknown |
CTNNB1 |
https://ghr.nlm.nih.gov/gene/CTNNB1 |
benign pilomatricoma |
db |
key |
2012-06 |
2017-12-29 |
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毛母質瘤 |
|
pilomatricoma probably accounts for less than 1 percent of all benign skin |
skin tumor associated with hair follicles. Hair follicles are specialized |
benign pilomatrixoma |
GTR |
C0206711 |
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tumors. |
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structures in the skin where hair growth occurs. Pilomatricomas occur most often |
calcifying epithelioma of Malherbe |
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key |
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on the head or neck, although they can also be found on the arms, torso, or |
Malherbe calcifying epithelioma |
MeSH |
D018296 |
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legs. A pilomatricoma feels like a small, hard lump under the skin. This type of |
pilomatrixoma |
db |
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tumor grows relatively slowly and usually does not cause pain or other |
|
OMIM |
132600 |
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symptoms. Most affected individuals have a single tumor, although rarely |
db |
key |
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multiple pilomatricomas can occur. If a pilomatricoma is removed surgically, it |
Orphanet |
91414 |
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tends not to grow back (recur). |
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html:p |
Most pilomatricomas occur in people under the age of 20. However, these tumors |
SNOMED CT |
274901004 |
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can also appear later in life. Almost all pilomatricomas are benign, but a very |
db |
key |
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small percentage are cancerous (malignant). Unlike the benign form, the |
|
SNOMED CT |
44155009 |
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malignant version of this tumor (known as a pilomatrix carcinoma) occurs most |
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often in middle age or late in life. |
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html:p |
Pilomatricoma usually occurs without other signs or symptoms (isolated), but |
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this type of tumor has also rarely been reported with inherited conditions. |
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Disorders that can be associated with pilomatricoma include Gardner syndrome, |
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which is characterized by multiple growths (polyps) and cancers of the colon and |
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rectum; myotonic dystrophy, which is a form of muscular dystrophy; and |
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Rubinstein-Taybi syndrome, which is a condition that affects many parts of the |
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body and is associated with an increased risk of both benign and malignant |
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tumors. |
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related-gene-list |
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Pitt-Hopkins syndrome |
https://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome |
Pitt-Hopkins syndrome is thought to be a very rare condition. Approximately |
html:p |
Pitt-Hopkins syndrome is a condition characterized by intellectual disability |
ad |
autosomal dominant |
TCF4 |
https://ghr.nlm.nih.gov/gene/TCF4 |
PHS |
db |
key |
2015-02 |
2017-12-29 |
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皮特 - 霍普金斯綜合症 |
500 affected individuals have been reported worldwide. |
and developmental delay, breathing problems, recurrent seizures (epilepsy), and |
PTHS |
GTR |
C1970431 |
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distinctive facial features. |
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html:p |
People with Pitt-Hopkins syndrome have moderate to severe intellectual |
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GeneReviews |
pitt-hopkins |
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disability. Most affected individuals have delayed development of mental and |
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motor skills (psychomotor delay). They are delayed in learning to walk and |
MeSH |
D008607 |
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developing fine motor skills such as picking up small items with their fingers. |
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People with Pitt-Hopkins syndrome typically do not develop speech; some may |
OMIM |
610954 |
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learn to say a few words. Many affected individuals exhibit features of autistic |
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spectrum disorders, which are characterized by impaired communication and |
SNOMED CT |
702344008 |
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socialization skills. |
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html:p |
Breathing problems in individuals with Pitt-Hopkins syndrome are characterized |
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by episodes of rapid breathing (hyperventilation) followed by periods in which |
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breathing slows or stops (apnea). These episodes can cause a lack of oxygen in |
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the blood, leading to a bluish appearance of the skin or lips (cyanosis). In |
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some cases, the lack of oxygen can cause loss of consciousness. Some older |
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individuals with Pitt-Hopkins syndrome develop widened and rounded tips of the |
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fingers and toes (clubbing) because of recurrent episodes of decreased oxygen in |
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the blood. The breathing problems occur only when the person is awake and |
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typically first appear in mid-childhood, but they can begin as early as infancy. |
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Episodes of hyperventilation and apnea can be triggered by emotions such as |
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excitement or anxiety or by extreme tiredness (fatigue). |
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html:p |
Epilepsy occurs in most people with Pitt-Hopkins syndrome and usually begins |
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during childhood, although it can be present from birth. |
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html:p |
Individuals with Pitt-Hopkins syndrome have distinctive facial features that |
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include thin eyebrows, sunken eyes, a prominent nose with a high nasal bridge, a |
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pronounced double curve of the upper lip (Cupid's bow), a wide mouth with full |
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lips, and widely spaced teeth. The ears are usually thick and cup-shaped. |
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html:p |
Children with Pitt-Hopkins syndrome typically have a happy, excitable demeanor |
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with frequent smiling, laughter, and hand-flapping movements. However, they can |
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also experience anxiety and behavioral problems. |
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html:p |
Other features of Pitt-Hopkins syndrome may include constipation and other |
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gastrointestinal problems, an unusually small head (microcephaly), |
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nearsightedness (myopia), eyes that do not look in the same direction |
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(strabismus), short stature, and minor brain abnormalities. Affected individuals |
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may also have small hands and feet, a single crease across the palms of the |
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hands, flat feet (pes planus), or unusually fleshy pads at the tips of the |
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fingers and toes. Males with Pitt-Hopkins syndrome may have undescended testes |
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(cryptorchidism). |
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related-gene-list |
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Platyspondylic lethal skeletal dysplasia, Torrance type |
https://ghr.nlm.nih.gov/condition/platyspondylic-lethal-skeletal-dysplasia-torra |
This condition is very rare; only a few affected individuals have been |
html:p |
Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of |
ad |
autosomal dominant |
COL2A1 |
https://ghr.nlm.nih.gov/gene/COL2A1 |
platyspondylic chondrodysplasia, Torrance-Luton type |
db |
key |
2008-07 |
2017-12-29 |
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nce-type |
reported worldwide. |
bone growth. People with this condition have very short arms and legs, |
platyspondylic skeletal dysplasia, Torrance type |
GTR |
C1835437 |
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underdeveloped pelvic bones, and unusually short fingers and toes |
PLSD-T |
db |
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(brachydactyly). This disorder is also characterized by flattened spinal |
PLSD-TL |
MeSH |
D003095 |
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bones (platyspondyly) and an exaggerated curvature of the lower back (lordosis). |
db |
key |
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Infants with this condition are born with a small chest with short ribs that |
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MeSH |
D010009 |
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can restrict the growth and expansion of the lungs. |
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db |
key |
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html:p |
As a result of these serious health problems, some affected fetuses do not |
OMIM |
151210 |
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survive to term. Infants born with platyspondylic lethal skeletal dysplasia, |
db |
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Torrance type usually die at birth or shortly thereafter from respiratory |
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Orphanet |
1417 |
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failure. A few affected people with milder signs and symptoms have lived into |
db |
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adulthood. |
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SNOMED CT |
254047006 |
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inheritance-pattern-list |
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PMM2-congenital disorder of glycosylation |
https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation |
More than 800 individuals with PMM2-CDG have been identified worldwide. |
html:p |
html:i |
-CDG, also known as congenital disorder of glycosylation type Ia) is an |
ar |
autosomal recessive |
gene-symbol |
synonym |
carbohydrate-deficient glycoprotein syndrome type Ia |
db-key |
db |
key |
2010-07 |
2017-12-29 |
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PMM2 |
inherited condition that affects many parts of the body. The type and severity |
PMM2 |
synonym |
CDG Ia |
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GTR |
C0349653 |
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html:i |
-CDG vary widely among affected individuals, sometimes even among members of the |
synonym |
CDG1a |
db-key |
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PMM2 |
same family. |
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synonym |
CDGS1a |
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GeneReviews |
cdg-1a |
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html:p |
Individuals with PMM2-CDG typically develop signs and symptoms of the condition during infancy |
synonym |
congenital disorder of glycosylation type Ia |
db-key |
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synonym |
Jaeken syndrome |
MeSH |
D018981 |
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synonym |
phosphomannomutase 2 deficiency |
db-key |
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synonym |
PMM deficiency |
OMIM |
212065 |
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-CDG also frequently have an underdeveloped cerebellum, which is the part of the |
synonym |
PMM2-CDG |
db-key |
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brain that coordinates movement. Distinctive facial features are sometimes |
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SNOMED CT |
459063003 |
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present in affected individuals, including a high forehead, a triangular face, |
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html:i |
-CDG may also have elevated liver function test results, seizures, fluid around |
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PMM2 |
the heart (pericardial effusion), and blood clotting disorders. About 20 percent |
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of affected infants do not survive the first year of life due to multiple organ |
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failure. |
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html:p |
The most severe cases of PMM2-CDG are characterized by hydrops fetalis, a condition in which |
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excess fluid builds up in the body before birth. Most babies with hydrops fetalis are stillborn or die |
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soon after birth. |
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html:p |
html:i |
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PMM2 |
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html:p |
html:i |
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PMM2 |
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-CDG have hypergonadotropic hypogonadism, which affects the production of |
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html:i |
-CDG do not go through puberty. Affected males experience normal puberty but |
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PMM2 |
often have small testes. |
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related-gene-list |
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Pol III-related leukodystrophy |
https://ghr.nlm.nih.gov/condition/pol-iii-related-leukodystrophy |
Pol III-related leukodystrophy is a rare disorder; its prevalence is |
html:p |
Pol III-related leukodystrophy is a disorder that affects the nervous system and |
ar |
autosomal recessive |
POLR3A |
https://ghr.nlm.nih.gov/gene/POLR3A |
4H syndrome |
db |
key |
2017-06 |
2017-12-29 |
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Pol III相關的腦白質營養不良 |
unknown. More than 100 affected individuals have been described in the medical |
other parts of the body. Leukodystrophies are conditions that involve |
related-gene |
gene-symbol |
ghr-page |
ADDH |
GTR |
CN168056 |
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literature. |
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abnormalities of the nervous system's white matter, which consists of nerve |
POLR3B |
https://ghr.nlm.nih.gov/gene/POLR3B |
ataxia, delayed dentition, and hypomyelination |
db |
key |
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fibers covered by a fatty substance called myelin. Myelin insulates nerve fibers |
dentoleukoencephalopathy |
GeneReviews |
pol3-leuk |
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and promotes the rapid transmission of nerve impulses. |
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HCAHC |
db |
key |
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html:p |
Pol III-related leukodystrophy is a hypomyelinating disease, which means that |
HLD7 |
MeSH |
D020279 |
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the nervous system of affected individuals has a reduced ability to form myelin. |
HLD8 |
db |
key |
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Hypomyelination underlies most of the neurological problems associated with Pol |
hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum |
OMIM |
607694 |
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III-related leukodystrophy. A small number of people with this disorder also |
hypomyelination, hypodontia, hypogonadotropic hypogonadism |
db |
key |
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have a loss of nerve cells in a part of the brain involved in coordinating |
leukodystrophy with oligodontia |
OMIM |
614381 |
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movements (cerebellar atrophy) and underdevelopment (hypoplasia) of tissue that |
leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or |
db |
key |
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connects the left and right halves of the brain (the corpus callosum). These |
hypogonadotropic hypogonadism |
Orphanet |
137639 |
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brain abnormalities likely contribute to the neurological problems in affected |
leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or |
db |
key |
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individuals. |
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hypogonadotropic hypogonadism |
Orphanet |
77295 |
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html:p |
People with Pol III-related leukodystrophy usually have intellectual disability |
leukoencephalopathy-ataxia-hypodontia-hypomyelination |
db |
key |
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ranging from mild to severe, which gradually worsens over time. Some affected |
LO |
Orphanet |
88637 |
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individuals have normal intelligence in early childhood but develop mild |
odontoleukodystrophy |
db |
key |
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intellectual disability during the course of the disease. |
|
Pol III disorder |
SNOMED CT |
712637001 |
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html:p |
Difficulty coordinating movements (ataxia), which begins in childhood and slowly |
Pol III-related hypomyelinating leukodystrophies |
db |
key |
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worsens over time, is a characteristic feature of Pol III-related |
ribonucleic acid polymerase III-related leukodystrophy |
SNOMED CT |
721846006 |
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leukodystrophy. Affected children typically have delayed development of motor |
TACH |
db |
key |
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skills such as walking. Their gait is unstable, and they usually walk with their |
tremor-ataxia with central hypomyelination |
SNOMED CT |
722064003 |
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feet wide apart for balance. Affected individuals may eventually need to use a |
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walker or wheelchair. Involuntary rhythmic shaking (tremor) of the arms and |
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hands may occur in this disorder. In some cases the tremor occurs mainly during |
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movement (intention tremor); other affected individuals experience the tremor |
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both during movement and at rest. |
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Development of the teeth (dentition) is often abnormal in Pol III-related |
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leukodystrophy, resulting in the absence of some teeth (known as hypodontia or |
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oligodontia). Some affected infants are born with a few teeth (natal teeth), |
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which fall out during the first weeks of life. The primary (deciduous) teeth |
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appear later than usual, beginning at about age 2. In Pol III-related |
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leukodystrophy, the teeth may not appear in the usual sequence, in which front |
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teeth (incisors) appear before back teeth (molars). Instead, molars often appear |
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first, with incisors appearing later or not at all. Permanent teeth are also |
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delayed, and may not appear until adolescence. The teeth may also be unusually |
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shaped. |
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Some individuals with Pol III-related leukodystrophy have excessive salivation |
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and difficulty chewing or swallowing (dysphagia), which can lead to choking. |
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They may also have speech impairment (dysarthria). People with Pol III-related |
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leukodystrophy often have abnormalities in eye movement, such as progressive |
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vertical gaze palsy, which is restricted up-and-down eye movement that worsens |
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over time. Nearsightedness is common in affected individuals, and clouding of |
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the lens of the eyes (cataracts) has also been reported. Deterioration (atrophy) |
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of the nerves that carry information from the eyes to the brain (the optic |
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nerves) and seizures may also occur in this disorder. |
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html:p |
Hypogonadotropic hypogonadism, which is a condition caused by reduced production |
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of hormones that direct sexual development, may occur in Pol III-related |
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leukodystrophy. Affected individuals have delayed development of the typical |
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signs of puberty, such as the growth of body hair. |
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html:p |
People with Pol III-related leukodystrophy may have different combinations of |
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its signs and symptoms. These varied combinations of clinical features were |
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originally described as separate disorders. Affected individuals may be |
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diagnosed with ataxia, delayed dentition, and hypomyelination (ADDH); |
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hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H syndrome); |
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tremor-ataxia with central hypomyelination (TACH); leukodystrophy with |
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oligodontia (LO); or hypomyelination with cerebellar atrophy and hypoplasia of |
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the corpus callosum (HCAHC). Because these disorders were later found to have |
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the same genetic cause, researchers now group them as variations of the single |
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condition Pol III-related leukodystrophy. |
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synonym-list |
db-key-list |
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Poland syndrome |
https://ghr.nlm.nih.gov/condition/poland-syndrome |
Poland syndrome has been estimated to occur in 1 in 20,000 newborns. For |
html:p |
Poland syndrome is a disorder in which affected individuals are born with |
u |
pattern unknown |
synonym |
Poland sequence |
key |
2017-12-29 |
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波蘭綜合症 |
unknown reasons, this disorder occurs more than twice as often in males than in |
missing or underdeveloped muscles on one side of the body, resulting in |
synonym |
Poland syndactyly |
db-key |
C0032357 |
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females. Poland syndrome may be underdiagnosed because mild cases without hand |
abnormalities that can affect the chest, shoulder, arm, and hand. The extent and |
synonym |
Poland's anomaly |
key |
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involvement may never come to medical attention. |
severity of the abnormalities vary among affected individuals. |
synonym |
Poland's syndrome |
db-key |
D011045 |
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html:p |
People with Poland syndrome are typically missing part of one of the major chest |
synonym |
unilateral defect of pectoralis major and syndactyly of the hand |
key |
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muscles, called the pectoralis major. In most affected individuals, the missing |
db-key |
173800 |
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part is the large section of the muscle that normally runs from the upper arm |
key |
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to the breastbone (sternum). The abnormal pectoralis major muscle may cause the |
db-key |
2911 |
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chest to appear concave. In some cases, additional muscles on the affected side |
key |
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of the torso, including muscles in the chest wall, side, and shoulder, may be |
38371006 |
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missing or underdeveloped. There may also be rib cage abnormalities, such as |
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shortened ribs, and the ribs may be noticeable due to less fat under the skin |
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(subcutaneous fat). Breast and nipple abnormalities may also occur, and underarm |
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(axillary) hair is sometimes sparse or abnormally placed. In most cases, the |
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abnormalities in the chest area do not cause health problems or affect movement. |
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html:p |
Many people with Poland syndrome have hand abnormalities on the affected side, |
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commonly including an underdeveloped hand with abnormally short fingers |
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(brachydactyly); small, underdeveloped (vestigial) fingers; and some fingers |
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that are fused together (syndactyly). This combination of hand abnormalities is |
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called symbrachydactyly. Some affected individuals have only one or two of |
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these features, or have a mild hand abnormality that is hardly noticeable; more |
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severe abnormalities can cause problems with use of the hand. The bones of the |
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forearm (radius and ulna) are shortened in some people with Poland syndrome, but |
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this shortening may also be difficult to detect unless measured. |
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html:p |
Mild cases of Poland syndrome without hand involvement may not be evident until |
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puberty, when the differences (asymmetry) between the two sides of the chest |
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become more apparent. By contrast, severely affected individuals have |
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abnormalities of the chest, hand, or both that are apparent at birth. In rare |
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cases, severely affected individuals have abnormalities of internal organs such |
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as a lung or a kidney, or the heart is abnormally located in the right side of |
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the chest (dextrocardia). |
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html:p |
Rarely, chest and hand abnormalities resembling those of Poland syndrome occur |
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on both sides of the body, but researchers disagree as to whether this condition |
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is a variant of Poland syndrome or a different disorder. |
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related-gene-list |
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Polycystic kidney disease |
https://ghr.nlm.nih.gov/condition/polycystic-kidney-disease |
Polycystic kidney disease is a fairly common genetic disorder. It affects |
html:p |
Polycystic kidney disease is a disorder that affects the kidneys and other |
ad |
autosomal dominant |
PKD1 |
https://ghr.nlm.nih.gov/gene/PKD1 |
PKD |
db |
key |
2014-05 |
2017-12-29 |
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多囊性腎疾病 |
about 500,000 people in the United States. The autosomal dominant form of the |
organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
polycystic renal disease |
GTR |
C0085413 |
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disease is much more common than the autosomal recessive form. Autosomal |
interfere with their ability to filter waste products from the blood. The growth |
ar |
autosomal recessive |
PKD2 |
https://ghr.nlm.nih.gov/gene/PKD2 |
db |
key |
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dominant polycystic kidney disease affects 1 in 500 to 1,000 people, while the |
of cysts causes the kidneys to become enlarged and can lead to kidney failure. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0085548 |
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autosomal recessive type occurs in an estimated 1 in 20,000 to 40,000 people. |
Cysts may also develop in other organs, particularly the liver. |
PKHD1 |
https://ghr.nlm.nih.gov/gene/PKHD1 |
db |
key |
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html:p |
Frequent complications of polycystic kidney disease include dangerously high |
GTR |
C1418603 |
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blood pressure (hypertension), pain in the back or sides, blood in the urine |
db |
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(hematuria), recurrent urinary tract infections, kidney stones, and heart valve |
GTR |
C2751306 |
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abnormalities. Additionally, people with polycystic kidney disease have an |
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key |
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increased risk of an abnormal bulging (an aneurysm) in a large blood vessel |
GTR |
CN119611 |
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called the aorta or in blood vessels at the base of the brain. Aneurysms can be |
db |
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life-threatening if they tear or rupture. |
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GeneReviews |
pkd-ad |
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html:p |
The two major forms of polycystic kidney disease are distinguished by the usual |
db |
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age of onset and the pattern in which it is passed through families. The |
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GeneReviews |
pkd-ar |
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autosomal dominant form (sometimes called ADPKD) has signs and symptoms that |
db |
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typically begin in adulthood, although cysts in the kidney are often present |
ICD-10-CM |
Q61.1 |
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Autosomal dominant |
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from birth or childhood. Autosomal dominant polycystic kidney disease can be |
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further divided into type 1 and type 2, depending on the genetic cause. The |
ICD-10-CM |
Q61.2 |
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Autosomal recessive Polycystic kidney disease |
autosomal recessive form of polycystic kidney disease (sometimes called ARPKD) |
db |
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常染色体隐性多囊性肾脏疾病 |
is much rarer and is often lethal early in life. The signs and symptoms of this |
ICD-10-CM |
Q61.3 |
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condition are usually apparent at birth or in early infancy. |
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key |
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ICD-10-CM |
Q61.11 |
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db |
key |
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ICD-10-CM |
Q61.19 |
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db |
key |
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ICD-10-CM |
Z82.71 |
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db |
key |
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MeSH |
D007690 |
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db |
key |
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OMIM |
173900 |
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db |
key |
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OMIM |
263200 |
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db |
key |
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OMIM |
600666 |
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db |
key |
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OMIM |
613095 |
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db |
key |
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Orphanet |
730 |
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db |
key |
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Orphanet |
731 |
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db |
key |
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SNOMED CT |
28728008 |
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db |
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related-gene-list |
|
SNOMED CT |
28770003 |
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Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
https://ghr.nlm.nih.gov/condition/polycystic-lipomembranous-osteodysplasia-with- |
PLOSL is a very rare condition. It was first reported in the Finnish |
html:p |
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, |
ar |
autosomal recessive |
TREM2 |
https://ghr.nlm.nih.gov/gene/TREM2 |
Nasu-Hakola disease |
db |
key |
2008-11 |
2017-12-29 |
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多囊性脂膜性骨發育不良伴硬化性白質腦病 |
sclerosing-leukoencephalopathy |
population, where it has an estimated prevalence of 1 to 2 per million people. |
commonly known as PLOSL, is a progressive disorder that affects the bones and |
related-gene |
gene-symbol |
ghr-page |
NHD |
GTR |
C1857316 |
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This condition has also been diagnosed in more than 100 people in the Japanese |
brain. "Polycystic lipomembranous osteodysplasia" refers to cyst-like bone |
TYROBP |
https://ghr.nlm.nih.gov/gene/TYROBP |
PLO-SL |
db |
key |
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population. Although affected individuals have been reported worldwide, PLOSL |
changes that can be seen on x-rays. "Sclerosing leukoencephalopathy" describes |
PLOSL |
GeneReviews |
plosl |
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appears to be less common in other countries. |
specific changes in the brain that are found in people with this disorder. |
Presenile dementia with bone cysts |
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html:p |
The bone abnormalities associated with PLOSL usually become apparent in a |
MeSH |
D019636 |
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person's twenties. In most affected individuals, pain and tenderness in the |
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ankles and feet are the first symptoms of the disease. Several years later, |
OMIM |
221770 |
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broken bones (fractures) begin to occur frequently, particularly in bones of the |
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ankles, feet, wrists, and hands. Bone pain and fractures are caused by |
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Orphanet |
2770 |
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thinning of the bones (osteoporosis) and cyst-like changes. These abnormalities |
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weaken bones and make them more likely to break. |
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SNOMED CT |
702347001 |
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html:p |
The brain abnormalities characteristic of PLOSL typically appear in a person's |
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thirties. Personality changes are among the first noticeable problems, followed |
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by a loss of judgment, feelings of intense happiness (euphoria), a loss of |
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inhibition, and poor concentration. These neurologic changes cause significant |
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problems in an affected person's social and family life. As the disease |
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progresses, it causes a severe decline in thinking and reasoning abilities |
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(dementia). Affected people ultimately become unable to walk, speak, or care for |
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themselves. People with this disease usually live only into their thirties or |
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forties. |
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related-gene-list |
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Polycythemia vera |
https://ghr.nlm.nih.gov/condition/polycythemia-vera |
The prevalence of polycythemia vera varies worldwide. The condition affects |
html:p |
Polycythemia vera is a condition characterized by an increased number of red |
ad |
autosomal dominant |
JAK2 |
https://ghr.nlm.nih.gov/gene/JAK2 |
Osler-Vaquez disease |
db |
key |
2013-07 |
2017-12-29 |
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真性紅細胞增多症 |
an estimated 44 to 57 per 100,000 individuals in the United States. For unknown |
blood cells in the bloodstream. Affected individuals may also have excess white |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
polycythemia ruba vera |
GTR |
C0032463 |
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reasons, men develop polycythemia vera more frequently than women. |
blood cells and blood clotting cell fragments called platelets. These extra |
n |
not inherited |
TET2 |
https://ghr.nlm.nih.gov/gene/TET2 |
primary polycythemia |
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cells and platelets cause the blood to be thicker than normal. As a result, |
PRV |
ICD-10-CM |
D45 |
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abnormal blood clots are more likely to form and block the flow of blood through |
PV |
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arteries and veins. Individuals with polycythemia vera have an increased risk |
MeSH |
D011087 |
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of deep vein thrombosis (DVT), a type of blood clot that occurs in the deep |
db |
key |
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veins of the arms or legs. If a DVT travels through the bloodstream and lodges |
OMIM |
263300 |
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in the lungs, it can cause a life-threatening clot known as a pulmonary embolism |
db |
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(PE). Affected individuals also have an increased risk of heart attack and |
Orphanet |
729 |
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stroke caused by blood clots in the heart and brain. |
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html:p |
Polycythemia vera typically develops in adulthood, around age 60, although in |
SNOMED CT |
109992005 |
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rare cases it occurs in children and young adults. This condition may not cause |
db |
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any symptoms in its early stages. Some people with polycythemia vera experience |
SNOMED CT |
127066000 |
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headaches, dizziness, ringing in the ears (tinnitus), impaired vision, or itchy |
db |
key |
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skin. Affected individuals frequently have reddened skin because of the extra |
SNOMED CT |
128841001 |
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red blood cells. Other complications of polycythemia vera include an enlarged |
db |
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spleen (splenomegaly), stomach ulcers, gout (a form of arthritis caused by a |
SNOMED CT |
414127000 |
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buildup of uric acid in the joints), heart disease, and cancer of blood-forming |
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cells (leukemia). |
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related-gene-list |
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Polymicrogyria |
https://ghr.nlm.nih.gov/condition/polymicrogyria |
The prevalence of isolated polymicrogyria is unknown. Researchers believe |
html:p |
Polymicrogyria is a condition characterized by abnormal development of the brain |
ad |
autosomal dominant |
ADGRG1 |
https://ghr.nlm.nih.gov/gene/ADGRG1 |
PMG |
db |
key |
2009-06 |
2017-12-29 |
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多小腦回 |
|
that it may be relatively common overall, although the individual forms of the |
before birth. The surface of the brain normally has many ridges or folds, |
code |
memo |
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GTR |
C1845668 |
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disorder (such as bilateral generalized polymicrogyria) are probably rare. |
called gyri. In people with polymicrogyria, the brain develops too many folds, |
ar |
autosomal recessive |
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and the folds are unusually small. The name of this condition literally means |
code |
memo |
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GTR |
C1847352 |
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too many (poly-) small (micro-) folds (-gyria) in the surface of the brain. |
xd |
X-linked dominant |
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html:p |
Polymicrogyria can affect part of the brain or the whole brain. When the |
code |
memo |
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GTR |
C2675191 |
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condition affects one side of the brain, researchers describe it as unilateral. |
xr |
X-linked recessive |
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When it affects both sides of the brain, it is described as bilateral. The signs |
GTR |
C2750247 |
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and symptoms associated with polymicrogyria depend on how much of the brain, |
db |
key |
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and which particular brain regions, are affected. |
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GeneReviews |
poly |
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html:p |
Researchers have identified multiple forms of polymicrogyria. The mildest form |
db |
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is known as unilateral focal polymicrogyria. This form of the condition affects |
MeSH |
D065706 |
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a relatively small area on one side of the brain. It may cause minor |
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neurological problems, such as mild seizures that can be easily controlled with |
OMIM |
300388 |
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medication. Some people with unilateral focal polymicrogyria do not have any |
db |
key |
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problems associated with the condition. |
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OMIM |
606854 |
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html:p |
Bilateral forms of polymicrogyria tend to cause more severe neurological |
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db |
key |
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problems. Signs and symptoms of these conditions can include recurrent seizures |
OMIM |
610031 |
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(epilepsy), delayed development, crossed eyes, problems with speech and |
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swallowing, and muscle weakness or paralysis. The most severe form of the |
OMIM |
612691 |
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disorder, bilateral generalized polymicrogyria, affects the entire brain. This |
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condition causes severe intellectual disability, problems with movement, and |
Orphanet |
35981 |
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seizures that are difficult or impossible to control with medication. |
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html:p |
Polymicrogyria most often occurs as an isolated feature, although it can occur |
SNOMED CT |
438583008 |
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with other brain abnormalities. It is also a feature of several genetic |
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syndromes characterized by intellectual disability and multiple birth defects. |
SNOMED CT |
4945003 |
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These include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi |
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syndrome, Galloway-Mowat syndrome, Joubert syndrome, and Zellweger spectrum |
SNOMED CT |
715905006 |
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disorder. |
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related-gene-list |
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SNOMED CT |
722036008 |
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Pompe disease (GSDII) |
https://ghr.nlm.nih.gov/condition/pompe-disease |
Pompe disease affects about 1 in 40,000 people in the United States. The |
html:p |
Pompe disease is an inherited disorder caused by the buildup of a complex sugar |
ar |
autosomal recessive |
GAA |
https://ghr.nlm.nih.gov/gene/GAA |
acid maltase deficiency |
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2016-02 |
2017-12-29 |
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glycogen storage disease type II |
incidence of this disorder varies among different ethnic groups. |
called glycogen in the body's cells. The accumulation of glycogen in certain |
acid maltase deficiency disease |
GTR |
C0017921 |
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肝醣儲積症第二型 |
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organs and tissues, especially muscles, impairs their ability to function |
alpha-1,4-glucosidase deficiency |
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(龐貝氏症) |
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normally. |
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AMD |
GTR |
C0751173 |
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html:p |
Researchers have described three types of Pompe disease, which differ in |
deficiency of alpha-glucosidase |
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severity and the age at which they appear. These types are known as classic |
GAA deficiency |
GeneReviews |
gsd2 |
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infantile-onset, non-classic infantile-onset, and late-onset. |
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glycogen storage disease type II |
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html:p |
The classic form of infantile-onset Pompe disease begins within a few months of |
glycogenosis Type II |
ICD-10-CM |
E74.02 |
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birth. Infants with this disorder typically experience muscle weakness |
GSD II |
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(myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and |
GSD2 |
MeSH |
D006009 |
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heart defects. Affected infants may also fail to gain weight and grow at the |
Pompe's disease |
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expected rate (failure to thrive) and have breathing problems. If untreated, |
OMIM |
232300 |
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this form of Pompe disease leads to death from heart failure in the first year |
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of life. |
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Orphanet |
365 |
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html:p |
The non-classic form of infantile-onset Pompe disease usually appears by age 1. |
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It is characterized by delayed motor skills (such as rolling over and sitting) |
SNOMED CT |
124462004 |
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and progressive muscle weakness. The heart may be abnormally large |
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(cardiomegaly), but affected individuals usually do not experience heart |
|
SNOMED CT |
274864009 |
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failure. The muscle weakness in this disorder leads to serious breathing |
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problems, and most children with non-classic infantile-onset Pompe disease live |
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only into early childhood. |
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html:p |
The late-onset type of Pompe disease may not become apparent until later in |
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childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder |
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than the infantile-onset forms of this disorder and is less likely to involve |
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the heart. Most individuals with late-onset Pompe disease experience progressive |
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muscle weakness, especially in the legs and the trunk, including the muscles |
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that control breathing. As the disorder progresses, breathing problems can lead |
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to respiratory failure. |
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related-gene-list |
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Pontocerebellar hypoplasia |
https://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia |
The prevalence of pontocerebellar hypoplasia is unknown, although most |
html:p |
Pontocerebellar hypoplasia is a group of related conditions that affect the |
ar |
autosomal recessive |
AMPD2 |
https://ghr.nlm.nih.gov/gene/AMPD2 |
congenital pontocerebellar hypoplasia |
db |
key |
2014-11 |
2017-12-29 |
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橋腦小腦發育不全 |
forms of the disorder appear to be very rare. |
development of the brain. The term "pontocerebellar" refers to the pons and the |
related-gene |
gene-symbol |
ghr-page |
OPCH |
GTR |
C1261175 |
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cerebellum, which are the brain structures that are most severely affected in |
CHMP1A |
https://ghr.nlm.nih.gov/gene/CHMP1A |
PCH |
db |
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many forms of this disorder. The pons is located at the base of the brain in an |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1842687 |
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area called the brainstem, where it transmits signals between the cerebellum and |
CLP1 |
https://ghr.nlm.nih.gov/gene/CLP1 |
db |
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the rest of the brain. The cerebellum, which is located at the back of the |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1843504 |
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brain, normally coordinates movement. The term "hypoplasia" refers to the |
EXOSC3 |
https://ghr.nlm.nih.gov/gene/EXOSC3 |
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underdevelopment of these brain regions. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1848526 |
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html:p |
Pontocerebellar hypoplasia also causes impaired growth of other parts of the |
RARS2 |
https://ghr.nlm.nih.gov/gene/RARS2 |
db |
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brain, leading to an unusually small head size (microcephaly). This microcephaly |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1856974 |
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is usually not apparent at birth but becomes noticeable as brain growth |
SEPSECS |
https://ghr.nlm.nih.gov/gene/SEPSECS |
db |
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continues to be slow in infancy and early childhood. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1857762 |
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html:p |
Researchers have described at least ten types of pontocerebellar hypoplasia. All |
TSEN2 |
https://ghr.nlm.nih.gov/gene/TSEN2 |
db |
key |
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forms of this condition are characterized by impaired brain development, |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1969084 |
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delayed development overall, problems with movement, and intellectual |
TSEN34 |
https://ghr.nlm.nih.gov/gene/TSEN34 |
db |
key |
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disability. The brain abnormalities are usually present at birth, and in some |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2676465 |
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cases they can be detected before birth. Many children with pontocerebellar |
TSEN54 |
https://ghr.nlm.nih.gov/gene/TSEN54 |
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hypoplasia live only into infancy or childhood, although some affected |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2676466 |
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individuals have lived into adulthood. |
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VRK1 |
https://ghr.nlm.nih.gov/gene/VRK1 |
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html:p |
The two major forms of pontocerebellar hypoplasia are designated as type 1 |
GTR |
C2932714 |
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(PCH1) and type 2 (PCH2). In addition to the brain abnormalities described |
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above, PCH1 causes problems with muscle movement resulting from a loss of |
GTR |
C3151140 |
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specialized nerve cells called motor neurons in the spinal cord, similar to |
db |
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another genetic disorder known as spinal muscular atrophy. Individuals with PCH1 |
GTR |
C3553449 |
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also have very weak muscle tone (hypotonia), joint deformities called |
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contractures, vision impairment, and breathing and feeding problems that are |
GTR |
C3554209 |
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evident from early infancy. |
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html:p |
Common features of PCH2 include a lack of voluntary motor skills (such as |
GTR |
C3554226 |
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grasping objects, sitting, or walking), problems with swallowing (dysphagia), |
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and an absence of communication, including speech. Affected children typically |
GTR |
C4014347 |
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develop temporary jitteriness (generalized clonus) in early infancy, abnormal |
db |
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patterns of movement described as chorea or dystonia, and stiffness |
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GTR |
C4014488 |
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(spasticity). Many also have impaired vision and seizures. |
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html:p |
The other forms of pontocerebellar hypoplasia, designated as type 3 (PCH3) |
GTR |
C4015160 |
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through type 10 (PCH10), appear to be rare and have each been reported in only a |
db |
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small number of individuals. Because the different types have overlapping |
GeneReviews |
exosc3-pc-hypo-p |
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features, and some are caused by mutations in the same genes, researchers have |
db |
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proposed that the types be considered as a spectrum instead of distinct |
|
GeneReviews |
pc-hypo-p |
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conditions. |
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db |
key |
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MeSH |
D002526 |
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db |
key |
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OMIM |
225753 |
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db |
key |
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OMIM |
277470 |
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db |
key |
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OMIM |
607596 |
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db |
key |
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OMIM |
608027 |
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db |
key |
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OMIM |
610204 |
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db |
key |
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OMIM |
611523 |
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db |
key |
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OMIM |
612389 |
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db |
key |
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OMIM |
612390 |
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db |
key |
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OMIM |
613811 |
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db |
key |
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OMIM |
614678 |
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db |
key |
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OMIM |
614961 |
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db |
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OMIM |
614969 |
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db |
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OMIM |
615803 |
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db |
key |
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OMIM |
615809 |
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db |
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OMIM |
615851 |
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db |
key |
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Orphanet |
2254 |
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db |
key |
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Orphanet |
2524 |
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db |
key |
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Orphanet |
166063 |
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db |
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Orphanet |
166068 |
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db |
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Orphanet |
166073 |
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db |
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Orphanet |
284339 |
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db |
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Orphanet |
324569 |
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db |
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Orphanet |
97249 |
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db |
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Orphanet |
98523 |
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SNOMED CT |
373666002 |
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related-gene-list |
|
SNOMED CT |
45163000 |
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Popliteal pterygium syndrome |
https://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome |
Popliteal pterygium syndrome is a rare condition, occurring in |
html:p |
Popliteal pterygium syndrome is a condition that affects the development of the |
ad |
autosomal dominant |
IRF6 |
https://ghr.nlm.nih.gov/gene/IRF6 |
Facio-genito-popliteal syndrome |
db |
key |
2008-04 |
2017-12-29 |
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翼狀胬肉綜合徵 |
approximately 1 in 300,000 individuals. |
face, skin, and genitals. Most people with this disorder are born with a cleft |
PPS |
GTR |
C0265259 |
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lip, a cleft palate (an opening in the roof of the mouth), or both. Affected |
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key |
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individuals may have depressions (pits) near the center of the lower lip, which |
GeneReviews |
vws |
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may appear moist due to the presence of salivary and mucous glands in the pits. |
db |
key |
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Small mounds of tissue on the lower lip may also occur. In some cases, people |
MeSH |
D000015 |
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with popliteal pterygium syndrome have missing teeth. |
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html:p |
Individuals with popliteal pterygium syndrome may be born with webs of skin on |
OMIM |
119500 |
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the backs of the legs across the knee joint, which may impair mobility unless |
db |
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surgically removed. Affected individuals may also have webbing or fusion of the |
SNOMED CT |
66783006 |
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fingers or toes (syndactyly), characteristic triangular folds of skin over the |
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nails of the large toes, or tissue connecting the upper and lower eyelids or the |
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upper and lower jaws. They may have abnormal genitals, including unusually |
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small external genital folds (hypoplasia of the labia majora) in females. |
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Affected males may have undescended testes (cryptorchidism) or a scrotum divided |
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into two lobes (bifid scrotum). |
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html:p |
People with popliteal pterygium syndrome who have cleft lip and/or palate, like |
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other individuals with these facial conditions, may have an increased risk of |
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delayed language development, learning disabilities, or other mild cognitive |
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problems. The average IQ of individuals with popliteal pterygium syndrome is not |
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significantly different from that of the general population. |
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related-gene-list |
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Porphyria |
https://ghr.nlm.nih.gov/condition/porphyria |
The exact prevalence of porphyria is unknown, but it probably ranges from 1 |
html:p |
Porphyria is a group of disorders caused by abnormalities in the chemical steps |
ad |
autosomal dominant |
ALAD |
https://ghr.nlm.nih.gov/gene/ALAD |
Hematoporphyria |
db |
key |
2009-07 |
2017-12-29 |
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紫質症 |
|
in 500 to 1 in 50,000 people worldwide. Overall, porphyria cutanea tarda is the |
that lead to heme production. Heme is a vital molecule for all of the body's |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
porphyrin disorder |
GTR |
C0032708 |
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most common type of porphyria. For some forms of porphyria, the prevalence is |
organs, although it is most abundant in the blood, bone marrow, and liver. Heme |
ar |
autosomal recessive |
ALAS2 |
https://ghr.nlm.nih.gov/gene/ALAS2 |
db |
key |
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unknown because many people with a genetic mutation associated with the disease |
is a component of several iron-containing proteins called hemoproteins, |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0162530 |
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never experience signs or symptoms.Acute intermittent porphyria is the most |
including hemoglobin (the protein that carries oxygen in the blood). |
xd |
X-linked dominant |
CPOX |
https://ghr.nlm.nih.gov/gene/CPOX |
db |
key |
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common form of acute porphyria in most countries. It may occur more frequently |
html:p |
Researchers have identified several types of porphyria, which are distinguished |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0162531 |
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in northern European countries, such as Sweden, and in the United Kingdom. |
by their genetic cause and their signs and symptoms. Some types of porphyria, |
FECH |
https://ghr.nlm.nih.gov/gene/FECH |
db |
key |
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Another form of the disorder, hereditary coproporphyria, has been reported |
called cutaneous porphyrias, primarily affect the skin. Areas of skin exposed to |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0162532 |
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mostly in Europe and North America. Variegate porphyria is most common in the |
the sun become fragile and blistered, which can lead to infection, scarring, |
HFE |
https://ghr.nlm.nih.gov/gene/HFE |
db |
key |
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Afrikaner population of South Africa; about 3 in 1,000 people in this population |
changes in skin coloring (pigmentation), and increased hair growth. Cutaneous |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0162565 |
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have the genetic change that causes this form of the disorder. |
porphyrias include congenital erythropoietic porphyria, erythropoietic |
HMBS |
https://ghr.nlm.nih.gov/gene/HMBS |
db |
key |
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protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0162568 |
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html:p |
Other types of porphyria, called acute porphyrias, primarily affect the nervous |
PPOX |
https://ghr.nlm.nih.gov/gene/PPOX |
db |
key |
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system. These disorders are described as "acute" because their signs and |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0268323 |
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symptoms appear quickly and usually last a short time. Episodes of acute |
UROD |
https://ghr.nlm.nih.gov/gene/UROD |
db |
key |
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porphyria can cause abdominal pain, vomiting, constipation, and diarrhea. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2677889 |
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During an episode, a person may also experience muscle weakness, seizures, |
UROS |
https://ghr.nlm.nih.gov/gene/UROS |
db |
key |
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fever, and mental changes such as anxiety and hallucinations. These signs and |
GeneReviews |
aip |
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symptoms can be life-threatening, especially if the muscles that control |
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db |
key |
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breathing become paralyzed. Acute porphyrias include acute intermittent |
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GeneReviews |
cep |
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porphyria and ALAD deficiency porphyria. Two other forms of porphyria, |
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db |
key |
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hereditary coproporphyria and variegate porphyria, can have both acute and |
GeneReviews |
epp-ar |
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cutaneous symptoms. |
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db |
key |
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html:p |
The porphyrias can also be split into erythropoietic and hepatic types, |
|
GeneReviews |
epp-xl |
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depending on where damaging compounds called porphyrins and porphyrin precursors |
db |
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first build up in the body. In erythropoietic porphyrias, these compounds |
|
GeneReviews |
hcp |
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originate in the bone marrow. Erythropoietic porphyrias include erythropoietic |
db |
key |
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protoporphyria and congenital erythropoietic porphyria. Health problems |
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GeneReviews |
porphyria-ct |
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associated with erythropoietic porphyrias include a low number of red blood |
db |
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cells (anemia) and enlargement of the spleen (splenomegaly). The other types of |
GeneReviews |
porphyria-var |
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porphyrias are considered hepatic porphyrias. In these disorders, porphyrins and |
db |
key |
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porphyrin precursors originate primarily in the liver, leading to abnormal |
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ICD-10-CM |
E80.0 |
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liver function and an increased risk of developing liver cancer. |
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db |
key |
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html:p |
Environmental factors can strongly influence the occurrence and severity of |
ICD-10-CM |
E80.1 |
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signs and symptoms of porphyria. Alcohol, smoking, certain drugs, hormones, |
db |
key |
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other illnesses, stress, and dieting or periods without food (fasting) can all |
ICD-10-CM |
E80.2 |
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trigger the signs and symptoms of some forms of the disorder. Additionally, |
db |
key |
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exposure to sunlight worsens the skin damage in people with cutaneous |
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ICD-10-CM |
E80.20 |
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porphyrias. |
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db |
key |
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ICD-10-CM |
E80.21 |
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db |
key |
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ICD-10-CM |
E80.29 |
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db |
key |
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MeSH |
D011164 |
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db |
key |
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|
OMIM |
121300 |
|
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db |
key |
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|
OMIM |
125270 |
|
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db |
key |
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|
OMIM |
176000 |
|
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db |
key |
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|
OMIM |
176100 |
|
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db |
key |
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|
OMIM |
176200 |
|
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db |
key |
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|
OMIM |
177000 |
|
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db |
key |
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|
OMIM |
263700 |
|
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db |
key |
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|
OMIM |
300752 |
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db |
key |
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|
Orphanet |
738 |
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db |
key |
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|
SNOMED CT |
22935002 |
|
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db |
key |
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|
SNOMED CT |
234422006 |
|
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db |
key |
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|
SNOMED CT |
238056003 |
|
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db |
key |
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|
SNOMED CT |
276262000 |
|
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db |
key |
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|
SNOMED CT |
276263005 |
|
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db |
key |
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|
SNOMED CT |
276265003 |
|
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db |
key |
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|
SNOMED CT |
418470004 |
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db |
key |
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SNOMED CT |
44574006 |
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SNOMED CT |
51022005 |
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SNOMED CT |
58275005 |
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SNOMED CT |
7425008 |
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related-gene-list |
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SNOMED CT |
84816006 |
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Potassium-aggravated myotonia |
https://ghr.nlm.nih.gov/condition/potassium-aggravated-myotonia |
This condition appears to be rare; it has been reported in only a few |
html:p |
Potassium-aggravated myotonia is a disorder that affects muscles used for |
ad |
autosomal dominant |
SCN4A |
https://ghr.nlm.nih.gov/gene/SCN4A |
PAM |
db |
key |
2007-04 |
2017-12-29 |
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鉀加重肌強直 |
individuals and families worldwide. |
movement (skeletal muscles). Beginning in childhood or adolescence, people with |
sodium channel myotonia |
GTR |
C0752355 |
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this condition experience bouts of sustained muscle tensing (myotonia) that |
db |
key |
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prevent muscles from relaxing normally. Myotonia causes muscle stiffness that |
MeSH |
D020967 |
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worsens after exercise and may be aggravated by eating potassium-rich foods such |
db |
key |
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as bananas and potatoes. Stiffness occurs in skeletal muscles throughout the |
OMIM |
608390 |
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body. Potassium-aggravated myotonia ranges in severity from mild episodes of |
db |
key |
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muscle stiffness to severe, disabling disease with frequent attacks. Unlike some |
Orphanet |
612 |
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other forms of myotonia, potassium-aggravated myotonia is not associated with |
db |
key |
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episodes of muscle weakness. |
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SNOMED CT |
702355008 |
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related-gene-list |
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Potocki-Lupski syndrome |
https://ghr.nlm.nih.gov/condition/potocki-lupski-syndrome |
Potocki-Lupski syndrome affects an estimated 1 in 25,000 people worldwide. |
html:p |
Potocki-Lupski syndrome is a condition that results from having an extra copy |
ad |
autosomal dominant |
RAI1 |
https://ghr.nlm.nih.gov/gene/RAI1 |
17p11.2 duplication syndrome |
db |
key |
2017-10 |
2017-12-29 |
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Potocki-Lupski綜合徵 |
More than 50 affected individuals have been described in the medical literature. |
(duplication) of a small piece of chromosome 17 in each cell. The duplication |
related-chromosome |
name |
ghr-page |
17p11.2 microduplication syndrome |
GTR |
C1970482 |
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occurs on the short (p) arm of the chromosome at a position designated p11.2. |
17 |
https://ghr.nlm.nih.gov/chromosome/17 |
chromosome 17p11.2 duplication syndrome |
db |
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This condition is also known as 17p11.2 duplication syndrome. |
dup(17)(p11.2p11.2) |
GeneReviews |
potocki-lupski |
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html:p |
Infants with Potocki-Lupski syndrome may have weak muscle tone (hypotonia) and |
duplication 17p11.2 syndrome |
db |
key |
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swallowing difficulties (dysphagia) that lead to feeding problems. Some affected |
PLS |
MeSH |
D002658 |
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babies do not grow and gain weight at the expected rate (described as failure |
PTLS |
db |
key |
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to thrive), and children with this condition tend to be shorter and weigh less |
MeSH |
D008607 |
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than their peers. About 40 percent of babies with Potocki-Lupski syndrome are |
db |
key |
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born with a heart defect, which in some cases is life-threatening. |
MeSH |
D058674 |
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html:p |
Babies and children with Potocki-Lupski syndrome have delayed development, |
db |
key |
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including delayed speech and language skills and gross motor skills such |
OMIM |
610883 |
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sitting, standing, and walking. As they get older, affected individuals have |
db |
key |
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intellectual disability, which is usually mild to moderate, and ongoing |
|
Orphanet |
1713 |
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difficulties with speech. Potocki-Lupski syndrome is also associated with |
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behavioral problems, which can include attention problems, hyperactivity, |
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compulsive or impulsive behaviors, and anxiety. Many people with this condition |
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have features of autism spectrum disorder, which affects social interaction and |
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communication. |
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html:p |
Other signs and symptoms of Potocki-Lupski syndrome can include vision and |
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hearing problems, dental and skeletal abnormalities, and abnormal kidney |
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development and function. Many affected individuals have problems with sleep, |
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including short pauses in breathing during sleep (sleep apnea) and trouble |
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falling asleep and staying asleep. The condition can also have subtle |
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differences in facial features, including outside corners of the eyes that point |
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downward (down-slanting palpebral fissures), a triangular face with a broad |
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forehead and a small jaw (micrognathia), and widely spaced eyes (hypertelorism). |
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related-gene-list |
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Potocki-Shaffer syndrome |
https://ghr.nlm.nih.gov/condition/potocki-shaffer-syndrome |
Potocki-Shaffer syndrome is a rare condition, although its prevalence is |
html:p |
Potocki-Shaffer syndrome is a disorder that affects development of the bones, |
ad |
autosomal dominant |
ALX4 |
https://ghr.nlm.nih.gov/gene/ALX4 |
chromosome 11p11.2 deletion syndrome |
db |
key |
2016-05 |
2017-12-29 |
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Potocki-Shaffer綜合徵 |
unknown. Fewer than 100 cases have been reported in the scientific literature. |
nerve cells in the brain, and other tissues. Most people with this condition |
related-gene |
gene-symbol |
ghr-page |
P11pDS |
GTR |
C1832588 |
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have multiple noncancerous (benign) bone tumors called osteochondromas. In rare |
EXT2 |
https://ghr.nlm.nih.gov/gene/EXT2 |
proximal 11p deletion syndrome |
db |
key |
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instances, these tumors become cancerous. People with Potocki-Shaffer syndrome |
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D025063 |
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also have enlarged openings in the two bones that make up much of the top and |
PHF21A |
https://ghr.nlm.nih.gov/gene/PHF21A |
db |
key |
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sides of the skull (enlarged parietal foramina). These abnormal openings form |
related-chromosome |
name |
ghr-page |
|
OMIM |
601224 |
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extra "soft spots" on the head, in addition to the two that newborns normally |
11 |
https://ghr.nlm.nih.gov/chromosome/11 |
db |
key |
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have. Unlike the usual newborn soft spots, the enlarged parietal foramina remain |
Orphanet |
52022 |
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open throughout life. |
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html:p |
The signs and symptoms of Potocki-Shaffer syndrome vary widely. In addition to |
Orphanet |
60015 |
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multiple osteochondromas and enlarged parietal foramina, affected individuals |
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often have intellectual disability and delayed development of speech, motor |
SNOMED CT |
702346005 |
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skills (such as sitting and walking), and social skills. Many people with this |
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condition have distinctive facial features, which can include a wide, short |
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skull (brachycephaly); a prominent forehead; a narrow bridge of the nose; a |
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shortened distance between the nose and upper lip (a short philtrum); and a |
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downturned mouth. Less commonly, Potocki-Shaffer syndrome causes vision |
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problems, additional skeletal abnormalities, and defects in the heart, kidneys, |
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and urinary tract. |
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related-gene-list |
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PPM-X syndrome |
https://ghr.nlm.nih.gov/condition/ppm-x-syndrome |
The prevalence of PPM-X syndrome is unknown. |
html:p |
PPM-X syndrome is a condition characterized by psychotic disorders (most |
xd |
X-linked dominant |
MECP2 |
https://ghr.nlm.nih.gov/gene/MECP2 |
PPMX |
db |
key |
2011-10 |
2017-12-29 |
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commonly bipolar disorder), a pattern of movement abnormalities known as |
GTR |
C0035372 |
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parkinsonism, and mild to severe intellectual disability. Other symptoms include |
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increased muscle tone and exaggerated reflexes. Affected males may have |
GeneReviews |
rett |
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enlarged testes (macro-orchidism). Not all affected individuals have all these |
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symptoms, but most have intellectual disability. Males with this condition are |
MeSH |
D038901 |
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typically more severely affected than females, who usually have only mild |
db |
key |
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intellectual disability. |
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OMIM |
300055 |
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db |
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Orphanet |
3077 |
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db |
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inheritance-pattern-list |
related-gene-list |
SNOMED CT |
702356009 |
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PPP2R5D-related intellectual disability |
https://ghr.nlm.nih.gov/condition/ppp2r5d-related-intellectual-disability |
PPP2R5D-related intellectual disability is a rare disorder. At least 20 |
html:p |
html:i |
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ad |
autosomal dominant |
ghr-page |
autosomal dominant mental retardation 35 |
db-key |
db |
key |
2017-08 |
2017-12-29 |
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PPP2R5D相關的智力殘疾 |
individuals with this condition have been described in the medical literature. |
PPP2R5D |
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https://ghr.nlm.nih.gov/gene/PPP2R5D |
|
GTR |
C4225354 |
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db-key |
db |
key |
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MeSH |
D008607 |
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db-key |
db |
key |
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OMIM |
616355 |
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-related intellectual disability have an unusually large head size |
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(macrocephaly), and some have other unusual facial features, including a |
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prominent forehead (frontal bossing), widely spaced eyes (hypertelorism), and |
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eyes that slant downward (downslanting palpebral fissures). |
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related-gene-list |
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Prader-Willi syndrome |
https://ghr.nlm.nih.gov/condition/prader-willi-syndrome |
Prader-Willi syndrome affects an estimated 1 in 10,000 to 30,000 people |
html:p |
Prader-Willi syndrome is a complex genetic condition that affects many parts of |
n |
not inherited |
OCA2 |
https://ghr.nlm.nih.gov/gene/OCA2 |
Prader-Labhart-Willi syndrome |
db |
key |
2014-06 |
2017-12-29 |
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Prader-Willi氏综合症 |
worldwide. |
the body. In infancy, this condition is characterized by weak muscle tone |
related-chromosome |
name |
ghr-page |
PWS |
GTR |
C0032897 |
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普瑞德-威利症候群 |
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(hypotonia), feeding difficulties, poor growth, and delayed development. |
15 |
https://ghr.nlm.nih.gov/chromosome/15 |
Willi-Prader syndrome |
db |
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小胖威利 |
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Beginning in childhood, affected individuals develop an insatiable appetite, |
GeneReviews |
pws |
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which leads to chronic overeating (hyperphagia) and obesity. Some people with |
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Prader-Willi syndrome, particularly those with obesity, also develop type 2 |
MeSH |
D011218 |
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diabetes (the most common form of diabetes). |
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html:p |
People with Prader-Willi syndrome typically have mild to moderate intellectual |
OMIM |
176270 |
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impairment and learning disabilities. Behavioral problems are common, including |
db |
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temper outbursts, stubbornness, and compulsive behavior such as picking at the |
Orphanet |
739 |
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skin. Sleep abnormalities can also occur. Additional features of this condition |
db |
key |
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include distinctive facial features such as a narrow forehead, almond-shaped |
SNOMED CT |
89392001 |
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eyes, and a triangular mouth; short stature; and small hands and feet. Some |
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people with Prader-Willi syndrome have unusually fair skin and light-colored |
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hair. Both affected males and affected females have underdeveloped genitals. |
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Puberty is delayed or incomplete, and most affected individuals are unable to |
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have children (infertile). |
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synonym-list |
db-key-list |
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Preeclampsia |
https://ghr.nlm.nih.gov/condition/preeclampsia |
Preeclampsia is a common condition in all populations, occurring in 5 to 8 |
html:p |
Preeclampsia is a complication of pregnancy in which affected women develop high |
n |
not inherited |
synonym |
pre-eclampsia |
key |
2017-12-29 |
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|
子癇前症 |
|
percent of pregnancies. It occurs more frequently in women of African or |
blood pressure (hypertension); they can also have abnormally high levels of |
code |
memo |
synonym |
pregnancy-induced hypertension |
db-key |
C0032914 |
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前兆子癇 |
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Hispanic descent than it does in women of European descent. |
protein in their urine (proteinuria). This condition usually occurs in the last |
u |
pattern unknown |
synonym |
toxemia of pregnancy |
key |
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妊娠毒血症 |
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few months of pregnancy and often requires early delivery of the infant. |
db-key |
C1836255 |
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html:p |
Many women with mild preeclampsia do not feel ill, and the condition is often |
key |
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first detected through blood pressure and urine testing in their doctor's |
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office. In addition to hypertension and proteinuria, signs and symptoms of |
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preeclampsia can include excessive swelling (edema) of the face or hands and a |
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C1836257 |
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weight gain of more than 3 to 5 pounds in a week due to fluid retention. |
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Affected women may also experience headaches, dizziness, irritability, shortness |
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of breath, a decrease in urination, upper abdominal pain, nausea, or vomiting. |
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Vision changes may develop, including flashing lights or spots, increased |
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sensitivity to light (photophobia), blurry vision, or temporary blindness. |
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In many cases, symptoms of preeclampsia go away within a few days after the baby |
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O11.1 |
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is born. In severe cases, however, preeclampsia can damage the mother's organs, |
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such as the heart, liver, and kidneys, and can lead to life-threatening |
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complications. Extremely high blood pressure in the mother can cause bleeding in |
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the brain (hemorrhagic stroke). The effects of high blood pressure on the brain |
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O11.3 |
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(hypertensive encephalopathy) may also result in seizures. If seizures occur, |
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the condition is considered to have worsened to eclampsia, which can result in |
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O11.9 |
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coma. About 1 in 200 women with untreated preeclampsia develop eclampsia. |
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Eclampsia can also develop without any obvious signs of preeclampsia. |
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O14.0 |
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Between 10 and 20 percent of women with severe preeclampsia develop another |
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potentially life-threatening complication called HELLP syndrome. HELLP stands |
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O14.00 |
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for hemolysis (premature red blood cell breakdown), elevated liver enzyme |
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levels, and low platelets (cell fragments involved in blood clotting), which are |
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the key features of this condition. |
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Severe preeclampsia can also affect the fetus, with impairment of blood and |
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O14.02 |
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oxygen flow leading to growth problems or stillbirth. Infants delivered early |
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due to preeclampsia may have complications associated with prematurity, such as |
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O14.2 |
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breathing problems caused by underdeveloped lungs. |
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Women who have had preeclampsia have approximately twice the lifetime risk of |
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O14.03 |
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heart disease and stroke than do women in the general population. Researchers |
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suggest that preeclampsia, heart disease, and stroke may share common risk |
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O14.9 |
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factors. Women who have health conditions such as obesity, hypertension, heart |
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disease, diabetes, or kidney disease before they become pregnant have an |
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O14.10 |
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increased risk of developing preeclampsia. Preeclampsia is most likely to occur |
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in a woman's first pregnancy, although it can occur in subsequent pregnancies, |
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O14.12 |
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particularly in women with other health conditions. |
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O14.13 |
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O14.20 |
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O14.22 |
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O14.23 |
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O14.90 |
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O14.92 |
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O14.93 |
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D011225 |
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189800 |
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609402 |
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609403 |
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609404 |
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db-key |
614595 |
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db-key |
275555 |
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related-gene-list |
48194001 |
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Prekallikrein deficiency |
https://ghr.nlm.nih.gov/condition/prekallikrein-deficiency |
The prevalence of prekallikrein deficiency is unknown. Approximately 80 |
html:p |
Prekallikrein deficiency is a blood condition that usually causes no health |
ar |
autosomal recessive |
KLKB1 |
https://ghr.nlm.nih.gov/gene/KLKB1 |
congenital prekallikrein deficiency |
db |
key |
2014-07 |
2017-12-29 |
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前激肽釋放酶缺乏症 |
affected individuals in about 30 families have been described in the medical |
problems. In people with this condition, blood tests show a prolonged activated |
Fletcher factor deficiency |
GTR |
C0272339 |
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literature. Because prekallikrein deficiency usually does not cause any |
partial thromboplastin time (PTT), a result that is typically associated with |
Fletcher trait |
db |
key |
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symptoms, researchers suspect that most people with the condition are never |
bleeding problems; however, bleeding problems generally do not occur in |
PKK deficiency |
MeSH |
D001778 |
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diagnosed. |
prekallikrein deficiency. The condition is usually discovered when blood tests |
db |
key |
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are done for other reasons. |
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OMIM |
612423 |
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html:p |
A few people with prekallikrein deficiency have experienced health problems |
db |
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related to blood clotting such as heart attack, stroke, a clot in the deep veins |
Orphanet |
749 |
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of the arms or legs (deep vein thrombosis), nosebleeds, or excessive bleeding |
db |
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after surgery. However, these are common problems in the general population, and |
SNOMED CT |
48976006 |
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most affected individuals have other risk factors for developing them, so it is |
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unclear whether their occurrence is related to prekallikrein deficiency. |
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inheritance-pattern-list |
related-gene-list |
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PRICKLE1-related progressive myoclonus epilepsy with ataxia |
https://ghr.nlm.nih.gov/condition/prickle1-related-progressive-myoclonus-epileps |
The prevalence of PRICKLE1-related progressive myoclonus epilepsy with |
html:p |
html:i |
|
ad |
autosomal dominant |
PRICKLE1 |
synonym |
db-key |
db |
key |
2011-12 |
2017-12-29 |
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PRICKLE1相關的進行性肌陣攣性癲癇伴共濟失調 |
y-with-ataxia |
ataxia is unknown. The condition has been reported in three large families from |
PRICKLE1 |
inheritance-pattern |
code |
memo |
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synonym |
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GTR |
C2676254 |
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Jordan and northern Israel and in at least two unrelated individuals. |
ar |
autosomal recessive |
synonym |
db-key |
db |
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The signs and symptoms of this disorder usually begin between the ages of 5 and 10. |
synonym |
|
GeneReviews |
me-ataxia |
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html:p |
Problems with balance and coordination (ataxia) are usually the first symptoms |
synonym |
db-key |
db |
key |
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html:i |
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MeSH |
D020191 |
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PRICKLE1 |
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db-key |
db |
key |
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OMIM |
612437 |
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db-key |
db |
key |
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SNOMED CT |
702326000 |
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html:p |
Beginning later in childhood, some affected individuals develop tonic-clonic or |
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grand mal seizures. These seizures involve a loss of consciousness, muscle |
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rigidity, and convulsions. They often occur at night (nocturnally) while the |
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person is sleeping. |
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html:p |
Although a few affected individuals have died in childhood, many have lived into adulthood. |
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related-gene-list |
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Primary carnitine deficiency |
https://ghr.nlm.nih.gov/condition/primary-carnitine-deficiency |
The incidence of primary carnitine deficiency in the general population is |
html:p |
Primary carnitine deficiency is a condition that prevents the body from using |
ar |
autosomal recessive |
SLC22A5 |
https://ghr.nlm.nih.gov/gene/SLC22A5 |
carnitine transporter deficiency |
db |
key |
2014-09 |
2017-12-29 |
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原發性肉鹼缺乏症 |
approximately 1 in 100,000 newborns. In Japan, this disorder affects 1 in every |
certain fats for energy, particularly during periods without food (fasting). |
carnitine uptake defect |
GTR |
C0342788 |
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carnitine transporter defect |
40,000 newborns. |
Carnitine, a natural substance acquired mostly through the diet, is used by |
carnitine uptake deficiency |
db |
key |
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肉鹼吸收障礙 (原發性肉鹼缺乏症) |
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cells to process fats and produce energy. |
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CUD |
GeneReviews |
cdsp |
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html:p |
Signs and symptoms of primary carnitine deficiency typically appear during |
renal carnitine transport defect |
db |
key |
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infancy or early childhood and can include severe brain dysfunction |
systemic carnitine deficiency |
ICD-10-CM |
E71.41 |
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(encephalopathy), a weakened and enlarged heart (cardiomyopathy), confusion, |
db |
key |
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vomiting, muscle weakness, and low blood sugar (hypoglycemia). The severity of |
MeSH |
D008052 |
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this condition varies among affected individuals. Some people with primary |
db |
key |
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carnitine deficiency are asymptomatic, which means they do not have any signs or |
OMIM |
212140 |
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symptoms of the condition. All individuals with this disorder are at risk for |
db |
key |
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heart failure, liver problems, coma, and sudden death. |
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Orphanet |
158 |
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html:p |
Problems related to primary carnitine deficiency can be triggered by periods of |
db |
key |
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fasting or by illnesses such as viral infections. This disorder is sometimes |
SNOMED CT |
21764004 |
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mistaken for Reye syndrome, a severe disorder that may develop in children while |
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they appear to be recovering from viral infections such as chicken pox or flu. |
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Most cases of Reye syndrome are associated with the use of aspirin during these |
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viral infections. |
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related-gene-list |
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Primary ciliary dyskinesia |
https://ghr.nlm.nih.gov/condition/primary-ciliary-dyskinesia |
Primary ciliary dyskinesia occurs in approximately 1 in 16,000 individuals. |
html:p |
Primary ciliary dyskinesia is a disorder characterized by chronic respiratory |
ar |
autosomal recessive |
ARMC4 |
https://ghr.nlm.nih.gov/gene/ARMC4 |
immotile cilia syndrome |
db |
key |
2014-04 |
2017-12-29 |
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先天性纖毛運動異常 |
|
tract infections, abnormally positioned internal organs, and the inability to |
related-gene |
gene-symbol |
ghr-page |
PCD |
GTR |
C0008780 |
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have children (infertility). The signs and symptoms of this condition are caused |
C21orf59 |
https://ghr.nlm.nih.gov/gene/C21orf59 |
db |
key |
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by abnormal cilia and flagella. Cilia are microscopic, finger-like projections |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0022521 |
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that stick out from the surface of cells. They are found in the linings of the |
CCDC39 |
https://ghr.nlm.nih.gov/gene/CCDC39 |
db |
key |
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airway, the reproductive system, and other organs and tissues. Flagella are |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1837615 |
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tail-like structures, similar to cilia, that propel sperm cells forward. |
CCDC40 |
https://ghr.nlm.nih.gov/gene/CCDC40 |
db |
key |
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html:p |
In the respiratory tract, cilia move back and forth in a coordinated way to move |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1837616 |
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mucus towards the throat. This movement of mucus helps to eliminate fluid, |
CCDC65 |
https://ghr.nlm.nih.gov/gene/CCDC65 |
db |
key |
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bacteria, and particles from the lungs. Most babies with primary ciliary |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1837618 |
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dyskinesia experience breathing problems at birth, which suggests that cilia |
CCDC103 |
https://ghr.nlm.nih.gov/gene/CCDC103 |
db |
key |
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play an important role in clearing fetal fluid from the lungs. Beginning in |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1847554 |
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early childhood, affected individuals develop frequent respiratory tract |
CCDC114 |
https://ghr.nlm.nih.gov/gene/CCDC114 |
db |
key |
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infections. Without properly functioning cilia in the airway, bacteria remain in |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1970506 |
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the respiratory tract and cause infection. People with primary ciliary |
DNAAF1 |
https://ghr.nlm.nih.gov/gene/DNAAF1 |
db |
key |
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dyskinesia also have year-round nasal congestion and a chronic cough. Chronic |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2675228 |
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respiratory tract infections can result in a condition called bronchiectasis, |
DNAAF2 |
https://ghr.nlm.nih.gov/gene/DNAAF2 |
db |
key |
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which damages the passages, called bronchi, leading from the windpipe to the |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2675229 |
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lungs and can cause life-threatening breathing problems. |
DNAAF3 |
https://ghr.nlm.nih.gov/gene/DNAAF3 |
db |
key |
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html:p |
Some individuals with primary ciliary dyskinesia have abnormally placed organs |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2675867 |
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within their chest and abdomen. These abnormalities arise early in embryonic |
DNAAF4 |
https://ghr.nlm.nih.gov/gene/DNAAF4 |
db |
key |
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development when the differences between the left and right sides of the body |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2676235 |
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are established. About 50 percent of people with primary ciliary dyskinesia have |
DNAAF5 |
https://ghr.nlm.nih.gov/gene/DNAAF5 |
db |
key |
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a mirror-image reversal of their internal organs (situs inversus totalis). For |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2677085 |
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example, in these individuals the heart is on the right side of the body instead |
DNAH5 |
https://ghr.nlm.nih.gov/gene/DNAH5 |
db |
key |
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of on the left. Situs inversus totalis does not cause any apparent health |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2678473 |
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problems. When someone with primary ciliary dyskinesia has situs inversus |
DNAH8 |
https://ghr.nlm.nih.gov/gene/DNAH8 |
db |
key |
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totalis, they are often said to have Kartagener syndrome. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2750790 |
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html:p |
Approximately 12 percent of people with primary ciliary dyskinesia have a |
DNAH11 |
https://ghr.nlm.nih.gov/gene/DNAH11 |
db |
key |
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condition known as heterotaxy syndrome or situs ambiguus, which is characterized |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3151136 |
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by abnormalities of the heart, liver, intestines, or spleen. These organs may |
DNAI1 |
https://ghr.nlm.nih.gov/gene/DNAI1 |
db |
key |
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be structurally abnormal or improperly positioned. In addition, affected |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3151137 |
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individuals may lack a spleen (asplenia) or have multiple spleens (polysplenia). |
DNAI2 |
https://ghr.nlm.nih.gov/gene/DNAI2 |
db |
key |
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Heterotaxy syndrome results from problems establishing the left and right sides |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3151460 |
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of the body during embryonic development. The severity of heterotaxy varies |
DNAL1 |
https://ghr.nlm.nih.gov/gene/DNAL1 |
db |
key |
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widely among affected individuals. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3542550 |
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html:p |
Primary ciliary dyskinesia can also lead to infertility. Vigorous movements of |
DRC1 |
https://ghr.nlm.nih.gov/gene/DRC1 |
db |
key |
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the flagella are necessary to propel the sperm cells forward to the female egg |
related-gene |
gene-symbol |
ghr-page |
|
GeneReviews |
pcd |
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cell. Because their sperm do not move properly, males with primary ciliary |
HYDIN |
https://ghr.nlm.nih.gov/gene/HYDIN |
db |
key |
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dyskinesia are usually unable to father children. Infertility occurs in some |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D002925 |
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affected females and is likely due to abnormal cilia in the fallopian tubes. |
LRRC6 |
https://ghr.nlm.nih.gov/gene/LRRC6 |
db |
key |
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html:p |
Another feature of primary ciliary dyskinesia is recurrent ear infections |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
244400 |
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(otitis media), especially in young children. Otitis media can lead to permanent |
NME8 |
https://ghr.nlm.nih.gov/gene/NME8 |
db |
key |
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hearing loss if untreated. The ear infections are likely related to abnormal |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
606763 |
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cilia within the inner ear. |
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OFD1 |
https://ghr.nlm.nih.gov/gene/OFD1 |
db |
key |
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html:p |
Rarely, individuals with primary ciliary dyskinesia have an accumulation of |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
608644 |
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fluid in the brain (hydrocephalus), likely due to abnormal cilia in the brain. |
RPGR |
https://ghr.nlm.nih.gov/gene/RPGR |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
608646 |
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RSPH1 |
https://ghr.nlm.nih.gov/gene/RSPH1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
608647 |
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RSPH4A |
https://ghr.nlm.nih.gov/gene/RSPH4A |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
610852 |
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RSPH9 |
https://ghr.nlm.nih.gov/gene/RSPH9 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
611884 |
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SPAG1 |
https://ghr.nlm.nih.gov/gene/SPAG1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
612274 |
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ZMYND10 |
https://ghr.nlm.nih.gov/gene/ZMYND10 |
db |
key |
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OMIM |
612444 |
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db |
key |
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OMIM |
612518 |
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db |
key |
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OMIM |
612649 |
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db |
key |
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OMIM |
612650 |
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db |
key |
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OMIM |
613193 |
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db |
key |
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OMIM |
613807 |
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db |
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OMIM |
613808 |
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db |
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Orphanet |
244 |
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db |
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SNOMED CT |
42402006 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
86204009 |
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Primary coenzyme Q10 deficiency |
https://ghr.nlm.nih.gov/condition/primary-coenzyme-q10-deficiency |
The prevalence of primary coenzyme Q10 deficiency is thought to be less |
html:p |
Primary coenzyme Q10 deficiency is a disorder that can affect many parts of the |
ar |
autosomal recessive |
COQ2 |
https://ghr.nlm.nih.gov/gene/COQ2 |
coenzyme Q deficiency |
db |
key |
2017-04 |
2017-12-29 |
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原輔酶Q10缺乏症 |
than 1 in 100,000 people. |
body, especially the brain, muscles, and kidneys. As its name suggests, the |
related-gene |
gene-symbol |
ghr-page |
CoQ deficiency |
GeneReviews |
coq10-def |
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disorder involves a shortage (deficiency) of a substance called coenzyme Q10. |
COQ4 |
https://ghr.nlm.nih.gov/gene/COQ4 |
primary CoQ10 deficiency |
db |
key |
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html:p |
The severity, combination of signs and symptoms, and age of onset of primary |
related-gene |
gene-symbol |
ghr-page |
ubiquinone deficiency |
MeSH |
D017237 |
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coenzyme Q10 deficiency vary widely. In the most severe cases, the condition |
COQ6 |
https://ghr.nlm.nih.gov/gene/COQ6 |
db |
key |
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becomes apparent in infancy and causes severe brain dysfunction combined with |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
607426 |
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muscle weakness (encephalomyopathy) and the failure of other body systems. These |
COQ7 |
https://ghr.nlm.nih.gov/gene/COQ7 |
db |
key |
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problems can be life-threatening. The mildest cases of primary coenzyme Q10 |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
612016 |
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deficiency can begin as late as a person's sixties and often cause cerebellar |
COQ8A |
https://ghr.nlm.nih.gov/gene/COQ8A |
db |
key |
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ataxia, which refers to problems with coordination and balance due to defects in |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
614650 |
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the part of the brain that is involved in coordinating movement (cerebellum). |
COQ8B |
https://ghr.nlm.nih.gov/gene/COQ8B |
db |
key |
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Other neurological abnormalities that can occur in primary coenzyme Q10 |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
614651 |
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deficiency include seizures, intellectual disability, poor muscle tone |
COQ9 |
https://ghr.nlm.nih.gov/gene/COQ9 |
db |
key |
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(hypotonia), involuntary muscle contractions (dystonia), progressive muscle |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
614652 |
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stiffness (spasticity), abnormal eye movements (nystagmus), vision loss caused |
PDSS1 |
https://ghr.nlm.nih.gov/gene/PDSS1 |
db |
key |
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by degeneration (atrophy) of the optic nerves or breakdown of the light-sensing |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
614654 |
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tissue at the back of the eyes (retinopathy), and sensorineural hearing loss |
PDSS2 |
https://ghr.nlm.nih.gov/gene/PDSS2 |
db |
key |
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(which is caused by abnormalities in the inner ear). The neurological problems |
OMIM |
615573 |
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gradually get worse unless treated with coenzyme Q10 supplementation. |
db |
key |
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html:p |
A type of kidney dysfunction called nephrotic syndrome is another common feature |
OMIM |
616276 |
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of primary coenzyme Q10 deficiency. It can occur with or without neurological |
db |
key |
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abnormalities. Nephrotic syndrome occurs when damage to the kidneys impairs |
OMIM |
616276 |
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their function, which allows protein from the blood to pass into the urine |
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db |
key |
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(proteinuria). Other signs and symptoms of nephrotic syndrome include increased |
OMIM |
616733 |
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cholesterol in the blood (hypercholesterolemia), an abnormal buildup of fluid in |
db |
key |
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the abdominal cavity (ascites), and swelling (edema). Affected individuals may |
Orphanet |
139485 |
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also have blood in the urine (hematuria), which can lead to a reduced number of |
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red blood cells in the body (anemia), abnormal blood clotting, or reduced |
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amounts of certain white blood cells. Low white blood cell counts can lead to a |
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weakened immune system and frequent infections in people with nephrotic |
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syndrome. If not treated with coenzyme Q10 supplementation, affected individuals |
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eventually develop irreversible kidney failure (end-stage renal disease). |
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html:p |
A type of heart disease that enlarges and weakens the heart muscle (hypertrophic |
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cardiomyopathy) can also occur in primary coenzyme Q10 deficiency. |
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Primary Familial Brain Calcification |
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原發性家族性腦鈣化 |
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related-gene-list |
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Primary hyperoxaluria |
https://ghr.nlm.nih.gov/condition/primary-hyperoxaluria |
Primary hyperoxaluria is estimated to affect 1 in 58,000 individuals |
html:p |
Primary hyperoxaluria is a rare condition characterized by recurrent kidney and |
ar |
autosomal recessive |
AGXT |
https://ghr.nlm.nih.gov/gene/AGXT |
congenital oxaluria |
db |
key |
2015-12 |
2017-12-29 |
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原發性高草酸尿症 |
worldwide. Type 1 is the most common form, accounting for approximately 80 |
bladder stones. The condition often results in end stage renal disease (ESRD), |
related-gene |
gene-symbol |
ghr-page |
D-glycerate dehydrogenase deficiency |
GTR |
C0020500 |
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percent of cases. Types 2 and 3 each account for about 10 percent of cases. |
which is a life-threatening condition that prevents the kidneys from filtering |
GRHPR |
https://ghr.nlm.nih.gov/gene/GRHPR |
glyceric aciduria |
db |
key |
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fluids and waste products from the body effectively. |
related-gene |
gene-symbol |
ghr-page |
glycolic aciduria |
GTR |
C0020501 |
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html:p |
Primary hyperoxaluria results from the overproduction of a substance called |
HOGA1 |
https://ghr.nlm.nih.gov/gene/HOGA1 |
hepatic AGT deficiency |
db |
key |
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oxalate. Oxalate is filtered through the kidneys and excreted as a waste product |
hyperoxaluria, primary |
GTR |
C0268164 |
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in urine, leading to abnormally high levels of this substance in urine |
oxalosis |
db |
key |
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(hyperoxaluria). During its excretion, oxalate can combine with calcium to form |
oxaluria, primary |
GTR |
C0268165 |
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calcium oxalate, a hard compound that is the main component of kidney and |
peroxisomal alanine:glyoxylate aminotransferase deficiency |
db |
key |
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bladder stones. Deposits of calcium oxalate can damage the kidneys and other |
primary oxalosis |
GTR |
C3150878 |
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organs and lead to blood in the urine (hematuria), urinary tract infections, |
primary oxaluria |
db |
key |
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kidney damage, ESRD, and injury to other organs. Over time, kidney function |
GeneReviews |
ph1 |
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decreases such that the kidneys can no longer excrete as much oxalate as they |
db |
key |
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receive. As a result oxalate levels in the blood rise, and the substance gets |
GeneReviews |
ph2 |
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deposited in tissues throughout the body (systemic oxalosis), particularly in |
db |
key |
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bones and the walls of blood vessels. Oxalosis in bones can cause fractures. |
GeneReviews |
ph3 |
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html:p |
There are three types of primary hyperoxaluria that differ in their severity and |
db |
key |
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genetic cause. In primary hyperoxaluria type 1, kidney stones typically begin |
ICD-10-CM |
E72.53 |
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to appear anytime from childhood to early adulthood, and ESRD can develop at any |
db |
key |
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age. Primary hyperoxaluria type 2 is similar to type 1, but ESRD develops later |
MeSH |
D006960 |
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in life. In primary hyperoxaluria type 3, affected individuals often develop |
db |
key |
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kidney stones in early childhood, but few cases of this type have been described |
OMIM |
259900 |
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so additional signs and symptoms of this type are unclear. |
|
db |
key |
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OMIM |
260000 |
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db |
key |
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OMIM |
613616 |
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db |
key |
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Orphanet |
93598 |
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db |
key |
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Orphanet |
93599 |
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db |
key |
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Orphanet |
93600 |
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db |
key |
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SNOMED CT |
17901006 |
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db |
key |
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SNOMED CT |
373607009 |
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db |
key |
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SNOMED CT |
40951006 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
65520001 |
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Primary localized cutaneous amyloidosis |
https://ghr.nlm.nih.gov/condition/primary-localized-cutaneous-amyloidosis |
PLCA occurs worldwide, most commonly in Southeast Asia and South America. |
html:p |
Primary localized cutaneous amyloidosis (PLCA) is a condition in which clumps of |
ad |
autosomal dominant |
IL31RA |
https://ghr.nlm.nih.gov/gene/IL31RA |
amyloidosis IX |
db |
key |
2017-03 |
2017-12-29 |
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原发性局限性皮肤淀粉样变性 |
The prevalence of the condition is unknown. |
abnormal proteins called amyloids build up in the skin, specifically in the |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
PLCA |
GTR |
C0268398 |
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wave-like projections (dermal papillae) between the top two layers of skin (the |
ar |
autosomal recessive |
OSMR |
https://ghr.nlm.nih.gov/gene/OSMR |
primary cutaneous amyloidosis |
db |
key |
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dermis and the epidermis). The primary feature of PLCA is patches of skin with |
code |
memo |
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GTR |
C3151404 |
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abnormal texture or color. The appearance of these patches defines three forms |
n |
not inherited |
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db |
key |
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of the condition: lichen amyloidosis, macular amyloidosis, and nodular |
|
MeSH |
D000686 |
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amyloidosis. |
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db |
key |
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html:p |
Lichen amyloidosis is characterized by severely itchy patches of thickened skin |
OMIM |
105250 |
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with multiple small bumps. The patches are scaly and reddish brown in color. |
db |
key |
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These patches usually occur on the shins but can also occur on the forearms, |
OMIM |
613955 |
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other parts of the legs, and elsewhere on the body. |
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db |
key |
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html:p |
In macular amyloidosis, the patches are flat and dark brown. The coloring can |
Orphanet |
353220 |
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have a lacy (reticulated) or rippled appearance, although it is often uniform. |
db |
key |
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Macular amyloidosis patches are most commonly found on the upper back, but they |
SNOMED CT |
282834007 |
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can also occur on other parts of the torso or on the limbs. These patches are |
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mildly itchy. |
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Nodular amyloidosis is characterized by firm, raised bumps (nodules) that are |
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pink, red, or brown. These nodules often occur on the face, torso, limbs, or |
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genitals and are typically not itchy. |
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In some affected individuals, the patches have characteristics of both lichen |
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and macular amyloidosis. These cases are called biphasic amyloidosis. |
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In all forms of PLCA, the abnormal patches of skin usually arise in |
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mid-adulthood. They can remain for months to years and may recur after |
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disappearing, either at the same location or elsewhere. Very rarely, nodular |
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amyloidosis progresses to a life-threatening condition called systemic |
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amyloidosis, in which amyloid deposits accumulate in tissues and organs |
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throughout the body. |
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related-gene-list |
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Primary macronodular adrenal hyperplasia |
https://ghr.nlm.nih.gov/condition/primary-macronodular-adrenal-hyperplasia |
PMAH is a rare disorder. It is present in less than 1 percent of cases of |
html:p |
Primary macronodular adrenal hyperplasia (PMAH) is a disorder characterized by |
ad |
autosomal dominant |
APC |
https://ghr.nlm.nih.gov/gene/APC |
ACTH-independent macronodular adrenal hyperplasia |
db |
key |
2015-05 |
2017-12-29 |
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原发性大结节肾上腺增生 |
endogenous Cushing syndrome, which describes forms of Cushing syndrome caused by |
multiple lumps (nodules) in the adrenal glands, which are small |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
ACTH-independent macronodular adrenocortical hyperplasia |
GTR |
C4014803 |
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factors internal to the body rather than by external factors such as long-term |
hormone-producing glands located on top of each kidney. These nodules, which |
n |
not inherited |
ARMC5 |
https://ghr.nlm.nih.gov/gene/ARMC5 |
adrenal Cushing syndrome due to AIMAH |
db |
key |
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use of certain medicines called corticosteroids. The prevalence of endogenous |
usually are found in both adrenal glands (bilateral) and vary in size, cause |
related-gene |
gene-symbol |
ghr-page |
adrenocorticotropic hormone-independent macronodular adrenal hyperplasia |
MeSH |
D003480 |
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Cushing syndrome is about 1 in 26,000 people. |
adrenal gland enlargement (hyperplasia) and result in the production of |
FH |
https://ghr.nlm.nih.gov/gene/FH |
AIMAH |
db |
key |
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higher-than-normal levels of the hormone cortisol. Cortisol is an important |
related-gene |
gene-symbol |
ghr-page |
corticotropin-independent macronodular adrenal hyperplasia |
OMIM |
219080 |
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hormone that suppresses inflammation and protects the body from physical stress |
GNAS |
https://ghr.nlm.nih.gov/gene/GNAS |
PMAH |
db |
key |
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such as infection or trauma through several mechanisms including raising blood |
related-gene |
gene-symbol |
ghr-page |
primary bilateral macronodular adrenal hyperplasia |
OMIM |
615954 |
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sugar levels. |
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MC2R |
https://ghr.nlm.nih.gov/gene/MC2R |
db |
key |
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html:p |
PMAH typically becomes evident in a person's forties or fifties. It is |
related-gene |
gene-symbol |
ghr-page |
|
Orphanet |
189427 |
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considered a form of Cushing syndrome, which is characterized by increased |
MEN1 |
https://ghr.nlm.nih.gov/gene/MEN1 |
db |
key |
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levels of cortisol resulting from one of many possible causes. These increased |
related-gene |
gene-symbol |
ghr-page |
|
SNOMED CT |
237778003 |
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cortisol levels lead to weight gain in the face and upper body, fragile skin, |
PDE11A |
https://ghr.nlm.nih.gov/gene/PDE11A |
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bone loss, fatigue, and other health problems. However, some people with PMAH do |
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not experience these signs and symptoms and are said to have subclinical |
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Cushing syndrome. |
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related-gene-list |
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Primary myelofibrosis |
https://ghr.nlm.nih.gov/condition/primary-myelofibrosis |
Primary myelofibrosis is a rare condition that affects approximately 1 in |
html:p |
Primary myelofibrosis is a condition characterized by the buildup of scar tissue |
n |
not inherited |
CALR |
https://ghr.nlm.nih.gov/gene/CALR |
agnogenic myeloid metaplasia |
db |
key |
2014-09 |
2017-12-29 |
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原發性骨髓纖維化 |
500,000 people worldwide. |
(fibrosis) in the bone marrow, the tissue that produces blood cells. Because of |
related-gene |
gene-symbol |
ghr-page |
chronic idiopathic myelofibrosis |
GTR |
C0001815 |
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the fibrosis, the bone marrow is unable to make enough normal blood cells. The |
IDH1 |
https://ghr.nlm.nih.gov/gene/IDH1 |
idiopathic myelofibrosis |
db |
key |
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shortage of blood cells causes many of the signs and symptoms of primary |
related-gene |
gene-symbol |
ghr-page |
myelofibrosis with myeloid metaplasia |
MeSH |
D055728 |
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myelofibrosis. |
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IDH2 |
https://ghr.nlm.nih.gov/gene/IDH2 |
myeloid metaplasia |
db |
key |
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html:p |
Initially, most people with primary myelofibrosis have no signs or symptoms. |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
254450 |
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Eventually, fibrosis can lead to a reduction in the number of red blood cells, |
JAK2 |
https://ghr.nlm.nih.gov/gene/JAK2 |
db |
key |
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white blood cells, and platelets. A shortage of red blood cells (anemia) often |
related-gene |
gene-symbol |
ghr-page |
|
Orphanet |
824 |
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causes extreme tiredness (fatigue) or shortness of breath. A loss of white blood |
MPL |
https://ghr.nlm.nih.gov/gene/MPL |
db |
key |
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cells can lead to an increased number of infections, and a reduction of |
related-gene |
gene-symbol |
ghr-page |
|
SNOMED CT |
128843003 |
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platelets can cause easy bleeding or bruising. |
TET2 |
https://ghr.nlm.nih.gov/gene/TET2 |
db |
key |
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html:p |
Because blood cell formation (hematopoiesis) in the bone marrow is disrupted, |
SNOMED CT |
307651005 |
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other organs such as the spleen or liver may begin to produce blood cells. This |
db |
key |
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process, called extramedullary hematopoiesis, often leads to an enlarged spleen |
SNOMED CT |
443230004 |
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(splenomegaly) or an enlarged liver (hepatomegaly). People with splenomegaly may |
db |
key |
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feel pain or fullness in the abdomen, especially below the ribs on the left |
|
SNOMED CT |
52967002 |
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side. Other common signs and symptoms of primary myelofibrosis include fever, |
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night sweats, and bone pain. |
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html:p |
Primary myelofibrosis is most commonly diagnosed in people aged 50 to 80 but can |
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occur at any age. |
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Primary Paget disease |
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原發性變形性骨炎 |
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Primary Pulmonary hemosiderosis |
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原發性肺血鐵質沉積症 |
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Primary Pulmonary Hypertension, PPH |
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原發性肺動脈高壓症 |
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synonym-list |
db-key-list |
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Primary sclerosing cholangitis |
https://ghr.nlm.nih.gov/condition/primary-sclerosing-cholangitis |
An estimated 1 in 10,000 people have primary sclerosing cholangitis, and |
html:p |
Primary sclerosing cholangitis is a condition that affects the bile ducts. These |
u |
pattern unknown |
synonym |
sclerosing cholangitis |
key |
2017-12-29 |
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原發性硬化性膽管炎 |
the condition is diagnosed in approximately 1 in 100,000 people per year |
ducts carry bile (a fluid that helps to digest fats) from the liver, where bile |
db-key |
C0566602 |
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worldwide. |
is produced, to the gallbladder, where it is stored, and to the small |
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intestine, where it aids in digestion. Primary sclerosing cholangitis occurs |
db-key |
D015209 |
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because of inflammation in the bile ducts (cholangitis) that leads to scarring |
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(sclerosis) and narrowing of the ducts. As a result, bile cannot be released to |
db-key |
613806 |
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the gallbladder and small intestine, and it builds up in the liver. |
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html:p |
Primary sclerosing cholangitis is usually diagnosed around age 40, and for |
db-key |
171 |
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unknown reasons, it affects men twice as often as women. Many people have no |
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signs or symptoms of the condition when they are diagnosed, but routine blood |
197441003 |
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tests reveal liver problems. When apparent, the earliest signs and symptoms of |
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primary sclerosing cholangitis include extreme tiredness (fatigue), discomfort |
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in the abdomen, and severe itchiness (pruritus). As the condition worsens, |
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affected individuals may develop yellowing of the skin and whites of the eyes |
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(jaundice) and an enlarged spleen (splenomegaly). Eventually, the buildup of |
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bile damages the liver cells, causing chronic liver disease (cirrhosis) and |
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liver failure. Without bile available to digest them, fats pass through the |
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body. As a result, weight loss and shortages of vitamins that are absorbed with |
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and stored in fats (fat-soluble vitamins) can occur. A fat-soluble vitamin |
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called vitamin D helps absorb calcium and helps bones harden, and lack of this |
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vitamin can cause thinning of the bones (osteoporosis) in people with primary |
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sclerosing cholangitis. |
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html:p |
Primary sclerosing cholangitis is often associated with another condition called |
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inflammatory bowel disease, which is characterized by inflammation of the |
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intestines that causes open sores (ulcers) in the intestines and abdominal pain. |
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However, the reason for this link is unclear. Approximately 70 percent of |
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people with primary sclerosing cholangitis have inflammatory bowel disease, most |
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commonly a form of the condition known as ulcerative colitis. In addition, |
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people with primary sclerosing cholangitis are more likely to have an autoimmune |
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disorder, such as type 1 diabetes, celiac disease, or thyroid disease, than |
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people without the condition. Autoimmune disorders occur when the immune system |
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malfunctions and attacks the body's tissues and organs. People with primary |
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sclerosing cholangitis also have an increased risk of developing cancer, |
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particularly cancer of the bile ducts (cholangiocarcinoma). |
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related-gene-list |
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Primary spontaneous pneumothorax |
https://ghr.nlm.nih.gov/condition/primary-spontaneous-pneumothorax |
Primary spontaneous pneumothorax is more common in men than in women. This |
html:p |
Primary spontaneous pneumothorax is an abnormal accumulation of air in the space |
ad |
autosomal dominant |
FLCN |
https://ghr.nlm.nih.gov/gene/FLCN |
pneumothorax |
db |
key |
2016-11 |
2017-12-29 |
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原發性自發性氣胸 |
condition occurs in 7.4 to 18 per 100,000 men each year and 1.2 to 6 per 100,000 |
between the lungs and the chest cavity (called the pleural space) that can |
PSP |
GTR |
C1868193 |
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women each year. |
result in the partial or complete collapse of a lung. This type of pneumothorax |
spontaneous pneumothorax |
db |
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is described as primary because it occurs in the absence of lung disease such as |
ICD-10-CM |
J93.11 |
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emphysema. Spontaneous means the pneumothorax was not caused by an injury such |
db |
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as a rib fracture. Primary spontaneous pneumothorax is likely due to the |
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MeSH |
D011030 |
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formation of small sacs of air (blebs) in lung tissue that rupture, causing air |
db |
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to leak into the pleural space. Air in the pleural space creates pressure on the |
OMIM |
173600 |
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lung and can lead to its collapse. A person with this condition may feel chest |
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pain on the side of the collapsed lung and shortness of breath. |
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Orphanet |
2903 |
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html:p |
Blebs may be present on an individual's lung (or lungs) for a long time before |
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they rupture. Many things can cause a bleb to rupture, such as changes in air |
SNOMED CT |
3.3E+14 |
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pressure or a very sudden deep breath. Often, people who experience a primary |
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spontaneous pneumothorax have no prior sign of illness; the blebs themselves |
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typically do not cause any symptoms and are visible only on medical imaging. |
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Affected individuals may have one bleb to more than thirty blebs. Once a bleb |
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ruptures and causes a pneumothorax, there is an estimated 13 to 60 percent |
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chance that the condition will recur. |
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related-gene-list |
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Prion disease |
https://ghr.nlm.nih.gov/condition/prion-disease |
These disorders are very rare. Although the exact prevalence of prion |
html:p |
Prion disease represents a group of conditions that affect the nervous system in |
ad |
autosomal dominant |
PRNP |
https://ghr.nlm.nih.gov/gene/PRNP |
inherited human transmissible spongiform encephalopathies |
db |
key |
2014-01 |
2017-12-29 |
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朊病毒疾病 |
disease is unknown, studies suggest that this group of conditions affects about |
humans and animals. In people, these conditions impair brain function, causing |
prion-associated disorders |
GTR |
C0017495 |
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one person per million worldwide each year. Approximately 350 new cases are |
changes in memory, personality, and behavior; a decline in intellectual function |
prion-induced disorders |
db |
key |
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reported annually in the United States. |
(dementia); and abnormal movements, particularly difficulty with coordinating |
prion protein diseases |
GTR |
C0022336 |
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movements (ataxia). The signs and symptoms of prion disease typically begin in |
transmissible dementias |
db |
key |
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adulthood and worsen with time, leading to death within a few months to several |
transmissible spongiform encephalopathies |
GTR |
C0162534 |
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years. |
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TSEs |
db |
key |
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GTR |
C0206042 |
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db |
key |
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GTR |
C1855588 |
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db |
key |
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GeneReviews |
prion |
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db |
key |
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ICD-10-CM |
A81.0 |
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db |
key |
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ICD-10-CM |
A81.00 |
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db |
key |
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ICD-10-CM |
A81.01 |
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db |
key |
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ICD-10-CM |
A81.09 |
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db |
key |
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ICD-10-CM |
A81.81 |
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db |
key |
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ICD-10-CM |
A81.82 |
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db |
key |
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ICD-10-CM |
A81.83 |
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db |
key |
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MeSH |
D017096 |
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db |
key |
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OMIM |
123400 |
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db |
key |
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OMIM |
137440 |
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db |
key |
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OMIM |
245300 |
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db |
key |
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OMIM |
600072 |
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db |
key |
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Orphanet |
204 |
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db |
key |
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Orphanet |
356 |
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db |
key |
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Orphanet |
466 |
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db |
key |
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Orphanet |
56970 |
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db |
key |
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|
SNOMED CT |
20484008 |
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db |
key |
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SNOMED CT |
304603007 |
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db |
key |
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SNOMED CT |
67155006 |
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db |
key |
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Progeria |
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早老症 |
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related-gene-list |
|
SNOMED CT |
792004 |
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Progressive external ophthalmoplegia |
https://ghr.nlm.nih.gov/condition/progressive-external-ophthalmoplegia |
The prevalence of progressive external ophthalmoplegia is unknown. |
html:p |
Progressive external ophthalmoplegia is a condition characterized by weakness of |
ad |
autosomal dominant |
AFG3L2 |
https://ghr.nlm.nih.gov/gene/AFG3L2 |
chronic progressive external ophthalmoplegia |
db |
key |
2016-05 |
2017-12-29 |
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漸進性外眼肌麻痺 |
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the eye muscles. The condition typically appears in adults between ages 18 and |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
CPEO |
GTR |
C0162674 |
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40 and slowly worsens over time. The first sign of progressive external |
ar |
autosomal recessive |
DNA2 |
https://ghr.nlm.nih.gov/gene/DNA2 |
PEO |
db |
key |
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ophthalmoplegia is typically drooping eyelids (ptosis), which can affect one or |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1834846 |
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both eyelids. As ptosis worsens, affected individuals may use the forehead |
m |
mitochondrial |
MT-TI |
https://ghr.nlm.nih.gov/gene/MT-TI |
db |
key |
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muscles to try to lift the eyelids, or they may lift up their chin in order to |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1836439 |
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see. Another characteristic feature of progressive external ophthalmoplegia is |
MT-TL1 |
https://ghr.nlm.nih.gov/gene/MT-TL1 |
db |
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weakness or paralysis of the muscles that move the eye (ophthalmoplegia). |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1836460 |
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Affected individuals have to turn their head to see in different directions, |
OPA1 |
https://ghr.nlm.nih.gov/gene/OPA1 |
db |
key |
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especially as the ophthalmoplegia worsens. People with progressive external |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
alpers |
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ophthalmoplegia may also have general weakness of the muscles used for movement |
POLG |
https://ghr.nlm.nih.gov/gene/POLG |
db |
key |
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(myopathy), particularly those in the neck, arms, or legs. The weakness may be |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
kss |
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especially noticeable during exercise (exercise intolerance). Muscle weakness |
POLG2 |
https://ghr.nlm.nih.gov/gene/POLG2 |
db |
key |
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may also cause difficulty swallowing (dysphagia). |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
rrm2b-mtddepl |
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html:p |
When the muscle cells of affected individuals are stained and viewed under a |
RNASEH1 |
https://ghr.nlm.nih.gov/gene/RNASEH1 |
db |
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microscope, these cells usually appear abnormal. These abnormal muscle cells |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H49.4 |
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contain an excess of cell structures called mitochondria and are known as |
RRM2B |
https://ghr.nlm.nih.gov/gene/RRM2B |
db |
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ragged-red fibers. |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H49.40 |
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html:p |
Although muscle weakness is the primary symptom of progressive external |
SLC25A4 |
https://ghr.nlm.nih.gov/gene/SLC25A4 |
db |
key |
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ophthalmoplegia, this condition can be accompanied by other signs and symptoms. |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H49.41 |
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In these instances, the condition is referred to as progressive external |
SPG7 |
https://ghr.nlm.nih.gov/gene/SPG7 |
db |
key |
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ophthalmoplegia plus (PEO+). Additional signs and symptoms can include hearing |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H49.42 |
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loss caused by nerve damage in the inner ear (sensorineural hearing loss), |
TK2 |
https://ghr.nlm.nih.gov/gene/TK2 |
db |
key |
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weakness and loss of sensation in the limbs due to nerve damage (neuropathy), |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
H49.43 |
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impaired muscle coordination (ataxia), a pattern of movement abnormalities known |
TWNK |
https://ghr.nlm.nih.gov/gene/TWNK |
db |
key |
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as parkinsonism, and depression. |
related-mitochondrial-dna |
name |
ghr-page |
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MeSH |
D017246 |
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html:p |
Progressive external ophthalmoplegia is part of a spectrum of disorders with |
mitochondrial DNA |
https://ghr.nlm.nih.gov/mitochondrial-dna |
db |
key |
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overlapping signs and symptoms. Similar disorders include ataxia neuropathy |
OMIM |
157640 |
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spectrum and Kearns-Sayre syndrome. Like progressive external ophthalmoplegia, |
db |
key |
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the other conditions in this spectrum can involve weakness of the eye muscles. |
OMIM |
258450 |
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However, these conditions have many additional features not shared by most |
db |
key |
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people with progressive external ophthalmoplegia. |
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OMIM |
609283 |
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db |
key |
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OMIM |
609286 |
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db |
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Orphanet |
663 |
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db |
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related-gene-list |
|
SNOMED CT |
46252003 |
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Progressive familial heart block |
https://ghr.nlm.nih.gov/condition/progressive-familial-heart-block |
The prevalence of progressive familial heart block is unknown. In the |
html:p |
Progressive familial heart block is a genetic condition that alters the normal |
ad |
autosomal dominant |
GJA5 |
https://ghr.nlm.nih.gov/gene/GJA5 |
bundle branch block |
db |
key |
2015-04 |
2017-12-29 |
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United States, about 1 in 5,000 individuals have complete heart block from any |
beating of the heart. A normal heartbeat is controlled by electrical signals |
related-gene |
gene-symbol |
ghr-page |
HBBD |
GTR |
C1841658 |
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cause; worldwide, about 1 in 2,500 individuals have complete heart block. |
that move through the heart in a highly coordinated way. These signals begin in |
SCN1B |
https://ghr.nlm.nih.gov/gene/SCN1B |
hereditary bundle branch defect |
db |
key |
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a specialized cluster of cells called the sinoatrial node (the heart's natural |
related-gene |
gene-symbol |
ghr-page |
hereditary bundle branch system defect |
GTR |
C1879286 |
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pacemaker) located in the heart's upper chambers (the atria). From there, a |
SCN5A |
https://ghr.nlm.nih.gov/gene/SCN5A |
Lenegre Lev disease |
db |
key |
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group of cells called the atrioventricular node carries the electrical signals |
related-gene |
gene-symbol |
ghr-page |
Lev-Lenègre disease |
GTR |
C1970298 |
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to another cluster of cells called the bundle of His. This bundle separates into |
TRPM4 |
https://ghr.nlm.nih.gov/gene/TRPM4 |
Lev syndrome |
db |
key |
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multiple thin spindles called bundle branches, which carry electrical signals |
Lev's disease |
ICD-10-CM |
Q24.6 |
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into the heart's lower chambers (the ventricles). Electrical impulses move from |
PCCD |
db |
key |
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the sinoatrial node down to the bundle branches, stimulating a normal heartbeat |
progressive cardiac conduction defect |
MeSH |
D006327 |
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in which the ventricles contract slightly later than the atria. |
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db |
key |
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html:p |
Heart block occurs when the electrical signaling is obstructed anywhere from the |
OMIM |
113900 |
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atria to the ventricles. In people with progressive familial heart block, the |
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db |
key |
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condition worsens over time: early in the disorder, the electrical signals are |
OMIM |
140400 |
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partially blocked, but the block eventually becomes complete, preventing any |
db |
key |
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signals from passing through the heart. Partial heart block causes a slow or |
OMIM |
604559 |
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irregular heartbeat (bradycardia or arrhythmia, respectively), and can lead to |
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the buildup of scar tissue (fibrosis) in the cells that carry electrical |
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Orphanet |
871 |
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impulses. Fibrosis contributes to the development of complete heart block, |
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resulting in uncoordinated electrical signaling between the atria and the |
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SNOMED CT |
698249005 |
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ventricles and inefficient pumping of blood in the heart. Complete heart block |
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can cause a sensation of fluttering or pounding in the chest (palpitations), |
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shortness of breath, fainting (syncope), or sudden cardiac arrest and death. |
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html:p |
Progressive familial heart block can be divided into type I and type II, with |
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type I being further divided into types IA and IB. These types differ in where |
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in the heart signaling is interrupted and the genetic cause. In types IA and IB, |
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the heart block originates in the bundle branch, and in type II, the heart |
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block originates in the atrioventricular node. The different types of |
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progressive familial heart block have similar signs and symptoms. |
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html:p |
Most cases of heart block are not genetic and are not considered progressive |
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familial heart block. The most common cause of heart block is fibrosis of the |
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heart, which occurs as a normal process of aging. Other causes of heart block |
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can include the use of certain medications or an infection of the heart tissue. |
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related-gene-list |
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Progressive familial intrahepatic cholestasis |
https://ghr.nlm.nih.gov/condition/progressive-familial-intrahepatic-cholestasis |
PFIC is estimated to affect 1 in 50,000 to 100,000 people worldwide. PFIC |
html:p |
Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes |
ar |
autosomal recessive |
ABCB4 |
https://ghr.nlm.nih.gov/gene/ABCB4 |
ABCB4-related intrahepatic cholestasis |
db |
key |
2009-12 |
2017-12-29 |
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漸進性家族性肝内胆汁滞留症 |
type 1 is much more common in the Inuit population of Greenland and the Old |
progressive liver disease, which typically leads to liver failure. In people |
related-gene |
gene-symbol |
ghr-page |
ABCB11-related intrahepatic cholestasis |
GTR |
C0268312 |
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漸進性家族性肝內膽汁滯留症 |
Order Amish population of the United States. |
with PFIC, liver cells are less able to secrete a digestive fluid called bile. |
ABCB11 |
https://ghr.nlm.nih.gov/gene/ABCB11 |
ATP8B1-related intrahepatic cholestasis |
db |
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The buildup of bile in liver cells causes liver disease in affected individuals. |
related-gene |
gene-symbol |
ghr-page |
BSEP deficiency |
GTR |
C1865643 |
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html:p |
Signs and symptoms of PFIC typically begin in infancy and are related to bile |
ATP8B1 |
https://ghr.nlm.nih.gov/gene/ATP8B1 |
Byler disease |
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buildup and liver disease. Specifically, affected individuals experience severe |
Byler syndrome |
GTR |
C1866138 |
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itching, yellowing of the skin and whites of the eyes (jaundice), failure to |
FIC1 deficiency |
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gain weight and grow at the expected rate (failure to thrive), high blood |
low γ-GT familial intrahepatic cholestasis |
GeneReviews |
pfic |
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pressure in the vein that supplies blood to the liver (portal hypertension), and |
MDR3 deficiency |
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an enlarged liver and spleen (hepatosplenomegaly). |
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MeSH |
D002780 |
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html:p |
There are three known types of PFIC: PFIC1, PFIC2, and PFIC3. The types are |
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also sometimes described as shortages of particular proteins needed for normal |
OMIM |
211600 |
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liver function. Each type has a different genetic cause. |
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html:p |
In addition to signs and symptoms related to liver disease, people with PFIC1 |
OMIM |
601847 |
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may have short stature, deafness, diarrhea, inflammation of the pancreas |
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(pancreatitis), and low levels of fat-soluble vitamins (vitamins A, D, E, and K) |
OMIM |
602347 |
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in the blood. Affected individuals typically develop liver failure before |
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adulthood. |
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Orphanet |
172 |
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html:p |
The signs and symptoms of PFIC2 are typically related to liver disease only; |
db |
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however, these signs and symptoms tend to be more severe than those experienced |
SNOMED CT |
74162007 |
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by people with PFIC1. People with PFIC2 often develop liver failure within the |
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first few years of life. Additionally, affected individuals are at increased |
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risk of developing a type of liver cancer called hepatocellular carcinoma. |
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html:p |
Most people with PFIC3 have signs and symptoms related to liver disease only. |
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Signs and symptoms of PFIC3 usually do not appear until later in infancy or |
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early childhood; rarely, people are diagnosed in early adulthood. Liver failure |
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can occur in childhood or adulthood in people with PFIC3. |
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Progressive hearing loss |
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漸進性失聰 |
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related-gene-list |
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Progressive osseous heteroplasia |
https://ghr.nlm.nih.gov/condition/progressive-osseous-heteroplasia |
Progressive osseous heteroplasia is a rare condition. Its exact incidence |
html:p |
Progressive osseous heteroplasia is a disorder in which bone forms within skin |
ad |
autosomal dominant |
GNAS |
https://ghr.nlm.nih.gov/gene/GNAS |
cutaneous ossification |
db |
key |
2009-01 |
2017-12-29 |
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漸進性骨異形 |
is unknown. |
and muscle tissue. Bone that forms outside the skeleton is called heterotopic or |
ectopic ossification |
GTR |
C0334041 |
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ectopic bone. In progressive osseous heteroplasia, ectopic bone formation |
heterotopic ossification |
db |
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begins in the deep layers of the skin (dermis and subcutaneous fat) and |
myositis ossificans progressiva |
GeneReviews |
gnas-dis |
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gradually moves into other tissues such as skeletal muscle and tendons. The bony |
osteodermia |
db |
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lesions within the skin may be painful and may develop into open sores |
osteoma cutis |
ICD-10-CM |
M61.1 |
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(ulcers). Over time, joints can become involved, resulting in impaired mobility. |
osteosis cutis |
db |
key |
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html:p |
Signs and symptoms of progressive osseous heteroplasia usually become noticeable |
POH |
ICD-10-CM |
M61.10 |
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during infancy. In some affected individuals, however, this may not occur until |
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later in childhood or in early adulthood. |
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ICD-10-CM |
M61.11 |
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ICD-10-CM |
M61.12 |
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ICD-10-CM |
M61.13 |
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ICD-10-CM |
M61.14 |
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ICD-10-CM |
M61.15 |
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ICD-10-CM |
M61.16 |
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ICD-10-CM |
M61.17 |
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ICD-10-CM |
M61.18 |
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ICD-10-CM |
M61.19 |
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ICD-10-CM |
M61.111 |
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ICD-10-CM |
M61.112 |
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ICD-10-CM |
M61.119 |
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ICD-10-CM |
M61.121 |
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ICD-10-CM |
M61.122 |
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ICD-10-CM |
M61.129 |
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ICD-10-CM |
M61.131 |
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ICD-10-CM |
M61.132 |
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ICD-10-CM |
M61.139 |
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ICD-10-CM |
M61.141 |
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ICD-10-CM |
M61.142 |
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ICD-10-CM |
M61.143 |
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ICD-10-CM |
M61.144 |
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ICD-10-CM |
M61.145 |
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ICD-10-CM |
M61.146 |
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ICD-10-CM |
M61.151 |
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ICD-10-CM |
M61.152 |
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ICD-10-CM |
M61.159 |
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ICD-10-CM |
M61.161 |
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ICD-10-CM |
M61.162 |
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db |
key |
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ICD-10-CM |
M61.169 |
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ICD-10-CM |
M61.171 |
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ICD-10-CM |
M61.172 |
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ICD-10-CM |
M61.173 |
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ICD-10-CM |
M61.174 |
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ICD-10-CM |
M61.175 |
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ICD-10-CM |
M61.176 |
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ICD-10-CM |
M61.177 |
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ICD-10-CM |
M61.178 |
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db |
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ICD-10-CM |
M61.179 |
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db |
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MeSH |
D009999 |
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db |
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OMIM |
166350 |
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db |
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Orphanet |
2762 |
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db |
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related-gene-list |
|
SNOMED CT |
719271000 |
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Progressive pseudorheumatoid dysplasia |
https://ghr.nlm.nih.gov/condition/progressive-pseudorheumatoid-dysplasia |
PPRD has been estimated to occur in approximately 1 per million people in |
html:p |
Progressive pseudorheumatoid dysplasia (PPRD) is a joint disease that worsens |
ar |
autosomal recessive |
WISP3 |
https://ghr.nlm.nih.gov/gene/WISP3 |
progressive pseudorheumatoid arthropathy of childhood |
db |
key |
2013-04 |
2017-12-29 |
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漸進性假性類風濕性發育不良 |
the United Kingdom. The condition is thought to be more common in Turkey and the |
over time. This condition is characterized by breakdown (degeneration) of the |
spondyloepiphyseal dysplasia tarda with progressive arthropathy |
GTR |
C0432215 |
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Middle East, although its prevalence in these regions is unknown. The condition |
cartilage between bones (articular cartilage). This cartilage covers and |
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in all regions is likely underdiagnosed because it is often misdiagnosed as |
protects the ends of bones, and its degeneration leads to pain and stiffness in |
GeneReviews |
ppr-dysp |
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juvenile rheumatoid arthritis. |
the joints and other features of PPRD. |
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html:p |
PPRD usually begins in childhood, between ages 3 and 8. The first indications |
MeSH |
D010009 |
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are usually an abnormal walking pattern, weakness and fatigue when active, and |
db |
key |
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stiffness in the joints in the fingers and in the knees. Other signs and |
|
OMIM |
208230 |
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symptoms that develop over time include permanently bent fingers |
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(camptodactyly), enlarged finger and knee joints (often mistaken as swelling), |
Orphanet |
1159 |
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and a reduced amount of space between the bones at the hip and knee joints. Hip |
db |
key |
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pain is a common problem by adolescence. Affected individuals have flattened |
SNOMED CT |
254065005 |
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bones in the spine (platyspondyly) that are abnormally shaped (beaked), which |
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leads to an abnormal front-to-back curvature of the spine (kyphosis) and a short |
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torso. At birth, people with PPRD are of normal length, but by adulthood, they |
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are usually shorter than their peers. Affected adults also have abnormal |
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deposits of calcium around the elbow, knee, and hip joints and limited movement |
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in all joints, including those of the spine. |
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html:p |
PPRD is often mistaken for another joint disorder that affects young people |
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called juvenile rheumatoid arthritis. However, the joint problems in juvenile |
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rheumatoid arthritis are associated with inflammation, while those in PPRD are |
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not. |
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related-gene-list |
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Progressive supranuclear palsy |
https://ghr.nlm.nih.gov/condition/progressive-supranuclear-palsy |
The exact prevalence of progressive supranuclear palsy is unknown. It may |
html:p |
Progressive supranuclear palsy is a brain disorder that affects movement, |
ad |
autosomal dominant |
MAPT |
https://ghr.nlm.nih.gov/gene/MAPT |
progressive supranuclear ophthalmoplegia |
db |
key |
2015-05 |
2017-12-29 |
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|
漸進性核上性麻痺 |
affect about 6 in 100,000 people worldwide. |
vision, speech, and thinking ability (cognition). The signs and symptoms of this |
code |
memo |
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PSP |
GTR |
C0038868 |
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disorder usually become apparent in mid- to late adulthood, most often in a |
u |
pattern unknown |
|
|
Richardson's syndrome |
db |
key |
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person's 60s. Most people with progressive supranuclear palsy survive 5 to 9 |
Steele-Richardson-Olszewski syndrome |
GTR |
C1836148 |
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years after the disease first appears, although a few affected individuals have |
supranuclear palsy, progressive |
db |
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lived for more than a decade. |
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GTR |
C1970476 |
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html:p |
Loss of balance and frequent falls are the most common early signs of |
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db |
key |
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progressive supranuclear palsy. Affected individuals have problems with walking, |
GeneReviews |
ftdp-17 |
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including poor coordination and an unsteady, lurching gait. Other movement |
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abnormalities develop as the disease progresses, including unusually slow |
ICD-10-CM |
G23.1 |
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movements (bradykinesia), clumsiness, and stiffness of the trunk muscles. These |
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problems worsen with time, and most affected people ultimately require |
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MeSH |
D013494 |
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wheelchair assistance. |
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html:p |
Progressive supranuclear palsy is also characterized by abnormal eye movements, |
OMIM |
601104 |
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which typically develop several years after the other movement problems first |
db |
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appear. Restricted up-and-down eye movement (vertical gaze palsy) is a hallmark |
OMIM |
609454 |
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of this disease. Other eye movement problems include difficulty opening and |
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closing the eyelids, infrequent blinking, and pulling back (retraction) of the |
OMIM |
610898 |
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eyelids. These abnormalities can lead to blurred vision, an increased |
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sensitivity to light (photophobia), and a staring gaze. |
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Orphanet |
683 |
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html:p |
Additional features of progressive supranuclear palsy include slow and slurred |
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speech (dysarthria) and trouble swallowing (dysphagia). Most affected |
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SNOMED CT |
28978003 |
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individuals also experience changes in personality and behavior, such as a |
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general loss of interest and enthusiasm (apathy). They develop problems with |
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cognition, including difficulties with attention, planning, and problem solving. |
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As the cognitive and behavioral problems worsen, affected individuals |
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increasingly require help with personal care and other activities of daily |
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living. |
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related-gene-list |
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Prolidase deficiency |
https://ghr.nlm.nih.gov/condition/prolidase-deficiency |
Prolidase deficiency is a rare disorder. Approximately 70 individuals with |
html:p |
Prolidase deficiency is a disorder that causes a wide variety of symptoms. The |
ar |
autosomal recessive |
PEPD |
https://ghr.nlm.nih.gov/gene/PEPD |
hyperimidodipeptiduria |
db |
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2012-02 |
2017-12-29 |
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Prolidase缺乏症 |
this disorder have been documented in the medical literature, and researchers |
disorder typically becomes apparent during infancy. Affected individuals may |
imidodipeptidase deficiency |
GTR |
C0268532 |
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have estimated that the condition occurs in approximately 1 in 1 million to 1 in |
have enlargement of the spleen (splenomegaly); in some cases, both the spleen |
PD |
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2 million newborns. It is more common in certain areas in northern Israel, both |
and liver are enlarged (hepatosplenomegaly). Diarrhea, vomiting, and dehydration |
peptidase deficiency |
GeneReviews |
prolidase-def |
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among members of a religious minority called the Druze and in nearby Arab |
may also occur. People with prolidase deficiency are susceptible to severe |
db |
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Moslem populations. |
infections of the skin or ears, or potentially life-threatening respiratory |
MeSH |
D056732 |
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tract infections. Some individuals with prolidase deficiency have chronic lung |
db |
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disease. |
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OMIM |
170100 |
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html:p |
Characteristic facial features in people with prolidase deficiency include |
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prominent eyes that are widely spaced (hypertelorism), a high forehead, a flat |
Orphanet |
742 |
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bridge of the nose, and a very small lower jaw and chin (micrognathia). Affected |
db |
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children may experience delayed development, and about 75 percent of people |
SNOMED CT |
360969006 |
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with prolidase deficiency have intellectual disability that may range from mild |
db |
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to severe. |
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SNOMED CT |
360994007 |
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html:p |
People with prolidase deficiency often develop skin lesions, especially on their |
db |
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hands, feet, lower legs, and face. The severity of the skin involvement, which |
SNOMED CT |
410055005 |
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usually begins during childhood, may range from a mild rash to severe skin |
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ulcers. Skin ulcers, especially on the legs, may not heal completely, resulting |
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in complications including infection and amputation. |
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html:p |
The severity of symptoms in prolidase deficiency varies greatly among affected |
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individuals. Some people with this disorder do not have any symptoms. In these |
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individuals the condition can be detected by laboratory tests such as newborn |
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screening tests or tests offered to relatives of affected individuals. |
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related-gene-list |
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Proopiomelanocortin deficiency |
https://ghr.nlm.nih.gov/condition/proopiomelanocortin-deficiency |
POMC deficiency is a rare condition; approximately 50 cases have been |
html:p |
Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an |
ar |
autosomal recessive |
POMC |
https://ghr.nlm.nih.gov/gene/POMC |
obesity, early-onset, adrenal insufficiency, and red hair |
db |
key |
2014-02 |
2017-12-29 |
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reported in the medical literature. |
early age. In addition to obesity, people with this condition have low levels of |
POMC deficiency |
GTR |
C1857854 |
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a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair |
db |
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and pale skin. |
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GeneReviews |
pomc-def |
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html:p |
Affected infants are usually a normal weight at birth, but they are constantly |
db |
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hungry, which leads to excessive feeding (hyperphagia). The babies continuously |
MeSH |
D009767 |
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gain weight and are severely obese by age 1. Affected individuals experience |
db |
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excessive hunger and remain obese for life. It is unclear if these individuals |
OMIM |
609734 |
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are prone to weight-related conditions like cardiovascular disease or type 2 |
db |
key |
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diabetes. |
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Orphanet |
71526 |
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html:p |
Low levels of ACTH lead to a condition called adrenal insufficiency, which |
db |
key |
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occurs when the pair of small glands on top of the kidneys (the adrenal glands) |
SNOMED CT |
702949005 |
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do not produce enough hormones. Adrenal insufficiency often results in periods |
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of severely low blood sugar (hypoglycemia) in people with POMC deficiency, which |
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can cause seizures, elevated levels of a toxic substance called bilirubin in |
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the blood (hyperbilirubinemia), and a reduced ability to produce and release a |
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digestive fluid called bile (cholestasis). Without early treatment, adrenal |
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insufficiency can be fatal. |
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html:p |
Pale skin that easily burns when exposed to the sun and red hair are common in |
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POMC deficiency, although not everyone with the condition has these |
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characteristics. |
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related-gene-list |
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Propionic acidemia |
https://ghr.nlm.nih.gov/condition/propionic-acidemia |
Propionic acidemia affects about 1 in 100,000 people in the United States. |
html:p |
Propionic acidemia is an inherited disorder in which the body is unable to |
ar |
autosomal recessive |
PCCA |
https://ghr.nlm.nih.gov/gene/PCCA |
hyperglycinemia with ketoacidosis and leukopenia |
db |
key |
2007-07 |
2017-12-29 |
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丙酸血症 |
|
The condition appears to be more common in several populations worldwide, |
process certain parts of proteins and lipids (fats) properly. It is classified |
related-gene |
gene-symbol |
ghr-page |
ketotic glycinemia |
GTR |
C0268579 |
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including the Inuit population of Greenland, some Amish communities, and Saudi |
as an organic acid disorder, which is a condition that leads to an abnormal |
PCCB |
https://ghr.nlm.nih.gov/gene/PCCB |
ketotic hyperglycinemia |
db |
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Arabians. |
buildup of particular acids known as organic acids. Abnormal levels of organic |
PCC deficiency |
GeneReviews |
propionic-a |
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acids in the blood (organic acidemia), urine (organic aciduria), and tissues can |
PROP |
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be toxic and can cause serious health problems. |
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propionicacidemia |
ICD-10-CM |
E71.121 |
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html:p |
In most cases, the features of propionic acidemia become apparent within a few |
propionyl-CoA carboxylase deficiency |
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days after birth. The initial symptoms include poor feeding, vomiting, loss of |
MeSH |
D056693 |
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appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These |
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symptoms sometimes progress to more serious medical problems, including heart |
OMIM |
606054 |
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abnormalities, seizures, coma, and possibly death. |
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html:p |
Less commonly, the signs and symptoms of propionic acidemia appear during |
Orphanet |
35 |
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childhood and may come and go over time. Some affected children experience |
db |
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intellectual disability or delayed development. In children with this |
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SNOMED CT |
124718009 |
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later-onset form of the condition, episodes of more serious health problems can |
db |
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be triggered by prolonged periods without food (fasting), fever, or infections. |
SNOMED CT |
399087009 |
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db |
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SNOMED CT |
399149003 |
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related-gene-list |
|
SNOMED CT |
69080001 |
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Prostate cancer |
https://ghr.nlm.nih.gov/condition/prostate-cancer |
About 1 in 7 men will be diagnosed with prostate cancer at some time during |
html:p |
Prostate cancer is a common disease that affects men, usually in middle age or |
ad |
autosomal dominant |
AR |
https://ghr.nlm.nih.gov/gene/AR |
cancer of the prostate |
db |
key |
2015-04 |
2017-12-29 |
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前列腺癌 |
|
their life. In addition, studies indicate that many older men have undiagnosed |
later. In this disorder, certain cells in the prostate become abnormal and |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
malignant neoplasm of the prostate |
GTR |
C1836005 |
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prostate cancer that is non-aggressive and unlikely to cause symptoms or affect |
multiply without control or order to form a tumor. The prostate is a gland that |
n |
not inherited |
BRCA1 |
https://ghr.nlm.nih.gov/gene/BRCA1 |
prostate carcinoma |
db |
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their lifespan. While most men who are diagnosed with prostate cancer do not die |
surrounds the male urethra and helps produce semen, the fluid that carries |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
prostate neoplasm |
GTR |
C1836436 |
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from it, this common cancer is still the second leading cause of cancer death |
sperm. |
u |
pattern unknown |
BRCA2 |
https://ghr.nlm.nih.gov/gene/BRCA2 |
prostatic cancer |
db |
key |
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among men in the United States.More than 60 percent of prostate cancers are |
html:p |
Early prostate cancer usually does not cause pain, and most affected men exhibit |
related-gene |
gene-symbol |
ghr-page |
prostatic carcinoma |
GTR |
C1837593 |
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diagnosed after age 65, and the disorder is rare before age 40. In the United |
no noticeable symptoms. Men are often diagnosed as the result of health |
CD82 |
https://ghr.nlm.nih.gov/gene/CD82 |
prostatic neoplasm |
db |
key |
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States, African Americans have a higher risk of developing prostate cancer than |
screenings, such as a blood test for a substance called prostate specific |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1837595 |
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do men of other ethnic backgrounds, and they also have a higher risk of dying |
antigen (PSA) or a medical procedure called a digital rectal exam. As the tumor |
CDH1 |
https://ghr.nlm.nih.gov/gene/CDH1 |
db |
key |
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from the disease. |
grows larger, signs and symptoms can include difficulty starting or stopping the |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1843533 |
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flow of urine, a feeling of not being able to empty the bladder completely, |
CHEK2 |
https://ghr.nlm.nih.gov/gene/CHEK2 |
db |
key |
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blood in the urine or semen, or pain with ejaculation. However, these changes |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1846279 |
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can also occur with many other genitourinary conditions. Having one or more of |
EHBP1 |
https://ghr.nlm.nih.gov/gene/EHBP1 |
db |
key |
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these symptoms does not necessarily mean that a man has prostate cancer. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1853195 |
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html:p |
The severity and outcome of prostate cancer varies widely. Early-stage prostate |
ELAC2 |
https://ghr.nlm.nih.gov/gene/ELAC2 |
db |
key |
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cancer can usually be treated successfully, and some older men have prostate |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1863600 |
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tumors that grow so slowly that they may never cause health problems during |
EP300 |
https://ghr.nlm.nih.gov/gene/EP300 |
db |
key |
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their lifetime, even without treatment. In other men, however, the cancer is |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1864472 |
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much more aggressive; in these cases, prostate cancer can be life-threatening. |
EPHB2 |
https://ghr.nlm.nih.gov/gene/EPHB2 |
db |
key |
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html:p |
Some cancerous tumors can invade surrounding tissue and spread to other parts of |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1970192 |
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the body. Tumors that begin at one site and then spread to other areas of the |
EZH2 |
https://ghr.nlm.nih.gov/gene/EZH2 |
db |
key |
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body are called metastatic cancers. The signs and symptoms of metastatic cancer |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1970250 |
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depend on where the disease has spread. If prostate cancer spreads, cancerous |
FGFR2 |
https://ghr.nlm.nih.gov/gene/FGFR2 |
db |
key |
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cells most often appear in the lymph nodes, bones, lungs, liver, or brain. Bone |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2677771 |
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metastases of prostate cancer most often cause pain in the lower back, pelvis, |
FGFR4 |
https://ghr.nlm.nih.gov/gene/FGFR4 |
db |
key |
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or hips. |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2677772 |
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html:p |
A small percentage of all prostate cancers cluster in families. These hereditary |
GNMT |
https://ghr.nlm.nih.gov/gene/GNMT |
db |
key |
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cancers are associated with inherited gene mutations. Hereditary prostate |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2677773 |
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cancers tend to develop earlier in life than non-inherited (sporadic) cases. |
HNF1B |
https://ghr.nlm.nih.gov/gene/HNF1B |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2677821 |
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HOXB13 |
https://ghr.nlm.nih.gov/gene/HOXB13 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2678047 |
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HPCX |
https://ghr.nlm.nih.gov/gene/HPCX |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2678479 |
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IGF2 |
https://ghr.nlm.nih.gov/gene/IGF2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2931456 |
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ITGA6 |
https://ghr.nlm.nih.gov/gene/ITGA6 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3539120 |
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KLF6 |
https://ghr.nlm.nih.gov/gene/KLF6 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
CN036094 |
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LRP2 |
https://ghr.nlm.nih.gov/gene/LRP2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
C61 |
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MAD1L1 |
https://ghr.nlm.nih.gov/gene/MAD1L1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D011471 |
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MED12 |
https://ghr.nlm.nih.gov/gene/MED12 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
176807 |
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MSMB |
https://ghr.nlm.nih.gov/gene/MSMB |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
300147 |
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MSR1 |
https://ghr.nlm.nih.gov/gene/MSR1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
300704 |
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MXI1 |
https://ghr.nlm.nih.gov/gene/MXI1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
601518 |
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NBN |
https://ghr.nlm.nih.gov/gene/NBN |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
602759 |
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PCAP |
https://ghr.nlm.nih.gov/gene/PCAP |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
603688 |
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PCNT |
https://ghr.nlm.nih.gov/gene/PCNT |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
604845 |
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PLXNB1 |
https://ghr.nlm.nih.gov/gene/PLXNB1 |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
605095 |
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PTEN |
https://ghr.nlm.nih.gov/gene/PTEN |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
605099 |
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RNASEL |
https://ghr.nlm.nih.gov/gene/RNASEL |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
607592 |
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SRD5A2 |
https://ghr.nlm.nih.gov/gene/SRD5A2 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
608656 |
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STAT3 |
https://ghr.nlm.nih.gov/gene/STAT3 |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
608658 |
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TGFBR1 |
https://ghr.nlm.nih.gov/gene/TGFBR1 |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
609299 |
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WRN |
https://ghr.nlm.nih.gov/gene/WRN |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
609558 |
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|
WT1 |
https://ghr.nlm.nih.gov/gene/WT1 |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
609717 |
|
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|
ZFHX3 |
https://ghr.nlm.nih.gov/gene/ZFHX3 |
db |
key |
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|
|
OMIM |
610321 |
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db |
key |
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|
|
OMIM |
610997 |
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db |
key |
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|
|
OMIM |
611100 |
|
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|
db |
key |
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|
OMIM |
611868 |
|
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db |
key |
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|
OMIM |
611928 |
|
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db |
key |
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|
OMIM |
611955 |
|
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db |
key |
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|
OMIM |
611958 |
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db |
key |
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|
OMIM |
611959 |
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db |
key |
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|
OMIM |
614731 |
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db |
key |
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OMIM |
615452 |
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db |
key |
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Orphanet |
1331 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
399068003 |
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Protein C deficiency |
https://ghr.nlm.nih.gov/condition/protein-c-deficiency |
Mild protein C deficiency affects approximately 1 in 500 individuals. |
html:p |
Protein C deficiency is a disorder that increases the risk of developing |
ad |
autosomal dominant |
PROC |
https://ghr.nlm.nih.gov/gene/PROC |
hereditary thrombophilia due to protein C deficiency |
db |
key |
2013-05 |
2017-12-29 |
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蛋白質C缺乏症 |
Severe protein C deficiency is rare and occurs in an estimated 1 in 4 million |
abnormal blood clots; the condition can be mild or severe. |
|
PROC deficiency |
GTR |
C2674321 |
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newborns. |
html:p |
Individuals with mild protein C deficiency are at risk of a type of blood clot |
db |
key |
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known as a deep vein thrombosis (DVT). These clots occur in the deep veins of |
MeSH |
D020151 |
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the arms or legs, away from the surface of the skin. A DVT can travel through |
db |
key |
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the bloodstream and lodge in the lungs, causing a life-threatening blockage of |
OMIM |
176860 |
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blood flow known as a pulmonary embolism (PE). While most people with mild |
db |
key |
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protein C deficiency never develop abnormal blood clots, certain factors can add |
OMIM |
612304 |
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to the risk of their development. These factors include increased age, surgery, |
db |
key |
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inactivity, or pregnancy. Having another inherited disorder of blood clotting |
Orphanet |
745 |
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in addition to protein C deficiency can also influence the risk of abnormal |
db |
key |
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blood clotting. |
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SNOMED CT |
439274008 |
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html:p |
In severe cases of protein C deficiency, infants develop a life-threatening |
db |
key |
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blood clotting disorder called purpura fulminans soon after birth. Purpura |
SNOMED CT |
441101007 |
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fulminans is characterized by the formation of blood clots in the small blood |
db |
key |
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vessels throughout the body. These blood clots block normal blood flow and can |
SNOMED CT |
441188004 |
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lead to localized death of body tissue (necrosis). Widespread blood clotting |
db |
key |
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uses up all available blood clotting proteins. As a result, abnormal bleeding |
SNOMED CT |
76407009 |
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occurs in various parts of the body, which can cause large, purple patches on |
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the skin. Individuals who survive the newborn period may experience recurrent |
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episodes of purpura fulminans暴發性紫癜. |
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related-gene-list |
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Protein S deficiency |
https://ghr.nlm.nih.gov/condition/protein-s-deficiency |
Mild protein S deficiency is estimated to occur in approximately 1 in 500 |
html:p |
Protein S deficiency is a disorder of blood clotting. People with this condition |
ad |
autosomal dominant |
PROS1 |
https://ghr.nlm.nih.gov/gene/PROS1 |
hereditary thrombophilia due to protein S deficiency |
db |
key |
2009-10 |
2017-12-29 |
|
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|
蛋白質S缺乏症 |
individuals. Severe protein S deficiency is rare; however, its exact prevalence |
have an increased risk of developing abnormal blood clots. |
|
GTR |
C2676728 |
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is unknown. |
html:p |
Individuals with mild protein S deficiency are at risk of a type of clot called |
db |
key |
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a deep vein thrombosis (DVT) that occurs in the deep veins of the arms or legs. |
MeSH |
D018455 |
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If a DVT travels through the bloodstream and lodges in the lungs, it can cause a |
db |
key |
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life-threatening clot known as a pulmonary embolism (PE). Other factors can |
OMIM |
612336 |
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raise the risk of abnormal blood clots in people with mild protein S deficiency. |
db |
key |
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These factors include increasing age, surgery, immobility, or pregnancy. The |
Orphanet |
743 |
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combination of protein S deficiency and other inherited disorders of blood |
db |
key |
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clotting can also influence risk. Many people with mild protein S deficiency |
SNOMED CT |
1563006 |
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never develop an abnormal blood clot, however. |
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db |
key |
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html:p |
In severe cases of protein S deficiency, infants develop a life-threatening |
SNOMED CT |
439702007 |
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blood clotting disorder called purpura fulminans soon after birth. Purpura |
|
db |
key |
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fulminans is characterized by the formation of blood clots within small blood |
SNOMED CT |
440988005 |
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vessels throughout the body. These blood clots disrupt normal blood flow and can |
db |
key |
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lead to death of body tissue (necrosis). Widespread blood clotting uses up all |
SNOMED CT |
441189007 |
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available blood clotting proteins. As a result, abnormal bleeding occurs in |
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various parts of the body and is often noticeable as large, purple skin lesions. |
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Individuals who survive the newborn period may experience recurrent episodes of |
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purpura fulminans. |
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related-gene-list |
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Proteus syndrome |
https://ghr.nlm.nih.gov/condition/proteus-syndrome |
Proteus syndrome is a rare condition with an incidence of less than 1 in 1 |
html:p |
Proteus syndrome is a rare condition characterized by overgrowth of the bones, |
u |
pattern unknown |
AKT1 |
https://ghr.nlm.nih.gov/gene/AKT1 |
PS |
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2012-06 |
2017-12-29 |
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普洛提斯症候群 |
million people worldwide. Only a few hundred affected individuals have been |
skin, and other tissues. Organs and tissues affected by the disease grow out of |
GTR |
C0085261 |
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reported in the medical literature.Researchers believe that Proteus syndrome may |
proportion to the rest of the body. The overgrowth is usually asymmetric, which |
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be overdiagnosed, as some individuals with other conditions featuring |
means it affects the right and left sides of the body differently. Newborns with |
GeneReviews |
proteus |
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asymmetric overgrowth have been mistakenly diagnosed with Proteus syndrome. To |
Proteus syndrome have few or no signs of the condition. Overgrowth becomes |
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make an accurate diagnosis, most doctors and researchers now follow a set of |
apparent between the ages of 6 and 18 months and gets more severe with age. |
MeSH |
D016715 |
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strict guidelines that define the signs and symptoms of Proteus syndrome. |
html:p |
In people with Proteus syndrome, the pattern of overgrowth varies greatly but |
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can affect almost any part of the body. Bones in the limbs, skull, and spine are |
OMIM |
176920 |
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often affected. The condition can also cause a variety of skin growths, |
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particularly a thick, raised, and deeply grooved lesion known as a cerebriform |
Orphanet |
744 |
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connective tissue nevus. This type of skin growth usually occurs on the soles of |
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the feet and is hardly ever seen in conditions other than Proteus syndrome. |
SNOMED CT |
23150001 |
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Blood vessels (vascular tissue) and fat (adipose tissue) can also grow |
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abnormally in Proteus syndrome. |
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html:p |
Some people with Proteus syndrome have neurological abnormalities, including |
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intellectual disability, seizures, and vision loss. Affected individuals may |
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also have distinctive facial features such as a long face, outside corners of |
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the eyes that point downward (down-slanting palpebral fissures), a low nasal |
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bridge with wide nostrils, and an open-mouth expression. For reasons that are |
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unclear, affected people with neurological symptoms are more likely to have |
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distinctive facial features than those without neurological symptoms. It is |
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unclear how these signs and symptoms are related to abnormal growth. |
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html:p |
Other potential complications of Proteus syndrome include an increased risk of |
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developing various types of noncancerous (benign) tumors and a type of blood |
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clot called a deep venous thrombosis (DVT). DVTs occur most often in the deep |
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veins of the legs or arms. If these clots travel through the bloodstream, they |
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can lodge in the lungs and cause a life-threatening complication called a |
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pulmonary embolism. Pulmonary embolism is a common cause of death in people with |
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Proteus syndrome. |
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related-gene-list |
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Prothrombin deficiency |
https://ghr.nlm.nih.gov/condition/prothrombin-deficiency |
Prothrombin deficiency is very rare; it is estimated to affect 1 in 2 |
html:p |
Prothrombin deficiency is a bleeding disorder that slows the blood clotting |
ar |
autosomal recessive |
F2 |
https://ghr.nlm.nih.gov/gene/F2 |
dysprothrombinemia |
db |
key |
2013-11 |
2017-12-29 |
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凝血酶原缺乏症 |
million people in the general population. |
process. People with this condition often experience prolonged bleeding |
factor II deficiency |
GTR |
C0020640 |
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following an injury, surgery, or having a tooth pulled. In severe cases of |
hypoprothrombinemia |
db |
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prothrombin deficiency, heavy bleeding occurs after minor trauma or even in the |
ICD-10-CM |
D68.2 |
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absence of injury (spontaneous bleeding). Women with prothrombin deficiency can |
db |
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have prolonged and sometimes abnormally heavy menstrual bleeding. Serious |
MeSH |
D007020 |
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complications can result from bleeding into the joints, muscles, brain, or other |
db |
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internal organs. Milder forms of prothrombin deficiency do not involve |
|
OMIM |
613679 |
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spontaneous bleeding, and the condition may only become apparent following |
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surgery or a serious injury. |
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Orphanet |
325 |
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db |
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related-gene-list |
|
SNOMED CT |
73975000 |
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Prothrombin thrombophilia |
https://ghr.nlm.nih.gov/condition/prothrombin-thrombophilia |
Prothrombin thrombophilia is the second most common inherited form of |
html:p |
Prothrombin thrombophilia is an inherited disorder of blood clotting. |
u |
pattern unknown |
F2 |
https://ghr.nlm.nih.gov/gene/F2 |
hyperprothrombinemia |
db |
key |
2008-08 |
2017-12-29 |
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(Blood) |
|
thrombophilia after factor V Leiden thrombophilia. Approximately 1 in 50 people |
Thrombophilia is an increased tendency to form abnormal blood clots in blood |
Prothrombin G20210A Thrombophilia |
GTR |
C0398623 |
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凝血酶原血栓形成傾向 |
in the white population in the United States and Europe has prothrombin |
vessels. People who have prothrombin thrombophilia are at somewhat higher than |
db |
key |
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thrombophilia. This condition is less common in other ethnic groups, occurring |
average risk for a type of clot called a deep venous thrombosis, which typically |
GeneReviews |
ptt |
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in less than one percent of African American, Native American, or Asian |
occurs in the deep veins of the legs. Affected people also have an increased |
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populations. |
risk of developing a pulmonary embolism, which is a clot that travels through |
ICD-10-CM |
D68.52 |
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the bloodstream and lodges in the lungs. Most people with prothrombin |
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key |
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thrombophilia never develop abnormal blood clots, however. |
|
MeSH |
D019851 |
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html:p |
Some research suggests that prothrombin thrombophilia is associated with a |
db |
key |
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somewhat increased risk of pregnancy loss (miscarriage) and may also increase |
OMIM |
176930 |
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the risk of other complications during pregnancy. These complications may |
db |
key |
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include pregnancy-induced high blood pressure (preeclampsia), slow fetal growth, |
OMIM |
188050 |
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and early separation of the placenta from the uterine wall (placental |
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key |
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abruption). It is important to note, however, that most women with prothrombin |
SNOMED CT |
440989002 |
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thrombophilia have normal pregnancies. |
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db |
key |
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SNOMED CT |
441420000 |
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related-gene-list |
|
SNOMED CT |
441421001 |
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Proximal 18q deletion syndrome |
https://ghr.nlm.nih.gov/condition/proximal-18q-deletion-syndrome |
Deletions from the q arm of chromosome 18 occur in an estimated 1 in 40,000 |
html:p |
Proximal 18q deletion syndrome is a chromosomal condition that occurs when a |
ad |
autosomal dominant |
18 |
https://ghr.nlm.nih.gov/chromosome/18 |
18q deletion syndrome |
db |
key |
2017-02 |
2017-12-29 |
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newborns worldwide. However, only a small number of these individuals have |
piece of the long (q) arm of chromosome 18 is missing. The term "proximal" means |
18q- syndrome |
GTR |
C0432443 |
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deletions in the region associated with proximal 18q deletion syndrome. At least |
that the missing piece occurs near the center of the chromosome. Individuals |
chromosome 18 deletion syndrome |
db |
key |
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15 people with proximal 18q deletion syndrome have been described in the |
with proximal 18q deletion syndrome have a wide variety of signs and symptoms. |
chromosome 18 long arm deletion syndrome |
MeSH |
D025063 |
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medical literature. |
Because only a small number of people are known to have this type of deletion, |
chromosome 18q monosomy |
db |
key |
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it can be difficult to determine which features should be considered |
chromosome 18q- syndrome |
OMIM |
601808 |
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characteristic of the disorder. |
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del(18q) syndrome |
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html:p |
Most people with proximal 18q deletion syndrome have delayed development of |
monosomy 18q |
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skills such as sitting, crawling, walking, and speaking, and intellectual |
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disability that can range from mild to severe. In particular, vocabulary and the |
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production of speech (expressive language skills) may be delayed. Recurrent |
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seizures (epilepsy) and weak muscle tone (hypotonia) often occur in this |
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disorder. Affected individuals also frequently have behavioral problems such as |
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hyperactivity, aggression, excessive eating (hyperphagia) that can lead to |
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obesity, and features of autism spectrum disorders that affect communication and |
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social interaction. Some affected individuals have an unusually large head size |
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(macrocephaly). |
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html:p |
People with proximal 18q deletion syndrome often have characteristic facial |
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features including a prominent forehead, droopy eyelids (ptosis), short and |
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slightly downslanting openings of the eyes (palpebral fissures), puffy tissue |
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around the eyes (periorbital tissue), and full cheeks. |
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related-gene-list |
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Pseudoachondroplasia |
https://ghr.nlm.nih.gov/condition/pseudoachondroplasia |
The exact prevalence of pseudoachondroplasia is unknown; it is estimated to |
html:p |
Pseudoachondroplasia is an inherited disorder of bone growth. It was once |
ad |
autosomal dominant |
COMP |
https://ghr.nlm.nih.gov/gene/COMP |
PSACH |
db |
key |
2013-01 |
2017-12-29 |
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假性软骨发育不全 |
occur in 1 in 30,000 individuals. |
thought to be related to another disorder of bone growth called achondroplasia, |
pseudoachondroplastic dysplasia |
GTR |
C0410538 |
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假性軟骨發育不全 |
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but without that disorder's characteristic facial features. More research has |
pseudoachondroplastic spondyloepiphyseal dysplasia syndrome |
db |
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demonstrated that pseudoachondroplasia is a separate disorder. |
|
GeneReviews |
psach |
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html:p |
All people with pseudoachondroplasia have short stature. The average height of |
db |
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adult males with this condition is 120 centimeters (3 feet, 11 inches), and the |
MeSH |
D004392 |
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average height of adult females is 116 centimeters (3 feet, 9 inches). |
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Individuals with pseudoachondroplasia are not unusually short at birth; by the |
OMIM |
177170 |
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age of two, their growth rate falls below the standard growth curve. |
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key |
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html:p |
Other characteristic features of pseudoachondroplasia include short arms and |
Orphanet |
750 |
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legs; a waddling walk; joint pain in childhood that progresses to a joint |
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key |
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disease known as osteoarthritis; an unusually large range of joint movement |
SNOMED CT |
22567005 |
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(hyperextensibility) in the hands, knees, and ankles; and a limited range of |
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motion at the elbows and hips. Some people with pseudoachondroplasia have legs |
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that turn outward or inward (valgus or varus deformity). Sometimes, one leg |
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turns outward and the other inward, which is called windswept deformity. Some |
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affected individuals have a spine that curves to the side (scoliosis) or an |
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abnormally curved lower back (lordosis). People with pseudoachondroplasia have |
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normal facial features, head size, and intelligence. |
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related-gene-list |
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Pseudocholinesterase deficiency |
https://ghr.nlm.nih.gov/condition/pseudocholinesterase-deficiency |
Pseudocholinesterase deficiency occurs in 1 in 3,200 to 1 in 5,000 people. |
html:p |
Pseudocholinesterase deficiency is a condition that results in increased |
ar |
autosomal recessive |
BCHE |
https://ghr.nlm.nih.gov/gene/BCHE |
butyrylcholinesterase deficiency |
db |
key |
2012-04 |
2017-12-29 |
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假性膽鹼酯酶缺乏症 |
It is more common in certain populations, such as the Persian Jewish community |
sensitivity to certain muscle relaxant drugs used during general anesthesia, |
cholinesterase II deficiency |
GTR |
C1283400 |
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and Alaska Natives. |
called choline esters. These fast-acting drugs, such as succinylcholine and |
deficiency of butyrylcholine esterase |
db |
key |
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mivacurium, are given to relax the muscles used for movement (skeletal muscles), |
pseudocholinesterase E1 deficiency |
MeSH |
D008661 |
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including the muscles involved in breathing. The drugs are often employed for |
succinylcholine sensitivity |
db |
key |
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brief surgical procedures or in emergencies when a breathing tube must be |
suxamethonium sensitivity |
OMIM |
177400 |
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inserted quickly. Normally, these drugs are broken down (metabolized) by the |
db |
key |
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body within a few minutes of being administered, at which time the muscles can |
Orphanet |
132 |
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move again. However, people with pseudocholinesterase deficiency may not be able |
db |
key |
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to move or breathe on their own for a few hours after the drugs are |
|
SNOMED CT |
191397007 |
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administered. Affected individuals must be supported with a machine to help them |
db |
key |
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breathe (mechanical ventilation) until the drugs are cleared from the body. |
SNOMED CT |
360589003 |
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html:p |
People with pseudocholinesterase deficiency may also have increased sensitivity |
db |
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to certain other drugs, including the local anesthetic procaine, and to specific |
SNOMED CT |
360607009 |
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agricultural pesticides. The condition causes no other signs or symptoms and is |
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usually not discovered until an abnormal drug reaction occurs. |
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SNOMED CT |
418059000 |
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related-gene-list |
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Pseudohypoaldosteronism type 1 |
https://ghr.nlm.nih.gov/condition/pseudohypoaldosteronism-type-1 |
PHA1 is a rare condition that has been estimated to affect 1 in 80,000 |
html:p |
Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems |
ad |
autosomal dominant |
NR3C2 |
https://ghr.nlm.nih.gov/gene/NR3C2 |
PHA1 |
db |
key |
2011-12 |
2017-12-29 |
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假性醛固酮減少症1型 |
newborns. |
regulating the amount of sodium in the body. Sodium regulation, which is |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
pseudohypoaldosteronism type I |
GTR |
C1449842 |
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important for blood pressure and fluid balance, primarily occurs in the kidneys. |
ar |
autosomal recessive |
SCNN1A |
https://ghr.nlm.nih.gov/gene/SCNN1A |
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However, sodium can also be removed from the body through other tissues, such |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1449843 |
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as the sweat glands and colon. Pseudohypoaldosteronism type 1 is named for its |
SCNN1B |
https://ghr.nlm.nih.gov/gene/SCNN1B |
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characteristic signs and symptoms, which mimic (pseudo) low levels (hypo) of a |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D011546 |
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hormone called aldosterone that helps regulate sodium levels. However, people |
SCNN1G |
https://ghr.nlm.nih.gov/gene/SCNN1G |
db |
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with PHA1 have high levels of aldosterone. |
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OMIM |
177735 |
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html:p |
There are two types of PHA1 distinguished by their severity, the genes involved, |
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and how they are inherited. One type, called autosomal dominant PHA1 (also |
OMIM |
264350 |
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known as renal PHA1) is characterized by excessive sodium loss from the kidneys. |
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This form of the condition is relatively mild and often improves in early |
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Orphanet |
756 |
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childhood. The other type, called autosomal recessive PHA1 (also known as |
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generalized or systemic PHA1) is characterized by sodium loss from the kidneys |
Orphanet |
171871 |
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and other organs, including the sweat glands, salivary glands, and colon. This |
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type of PHA1 is more severe and does not improve with age. |
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Orphanet |
171876 |
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html:p |
The earliest signs of both types of PHA1 are usually the inability to gain |
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weight and grow at the expected rate (failure to thrive) and dehydration, which |
SNOMED CT |
43941006 |
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are typically seen in infants. The characteristic features of both types of PHA1 |
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are excessive amounts of sodium released in the urine (salt wasting), which |
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leads to low levels of sodium in the blood (hyponatremia), and high levels of |
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potassium in the blood (hyperkalemia). Infants with PHA1 can also have high |
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levels of acid in the blood (metabolic acidosis). Hyponatremia, hyperkalemia, or |
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metabolic acidosis can cause nonspecific symptoms such as nausea, vomiting, |
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extreme tiredness (fatigue), and muscle weakness in infants with PHA1. |
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html:p |
Infants with autosomal recessive PHA1 can have additional signs and symptoms due |
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to the involvement of multiple organs. Affected individuals may experience |
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episodes of abnormal heartbeat (cardiac arrhythmia) or shock because of the |
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imbalance of salts in the body. They may also have recurrent lung infections or |
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lesions on the skin. Although adults with autosomal recessive PHA1 can have |
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repeated episodes of salt wasting, they do not usually have other signs and |
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symptoms of the condition. |
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related-gene-list |
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Pseudohypoaldosteronism type 2 |
https://ghr.nlm.nih.gov/condition/pseudohypoaldosteronism-type-2 |
PHA2 is a rare condition; however, the prevalence is unknown. |
html:p |
Pseudohypoaldosteronism type 2 (PHA2) is caused by problems that affect |
ad |
autosomal dominant |
CUL3 |
https://ghr.nlm.nih.gov/gene/CUL3 |
familial hyperkalemic hypertension |
db |
key |
2016-03 |
2017-12-29 |
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假性醛固酮減少症2型 |
|
regulation of the amount of sodium and potassium in the body. Sodium and |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
familial hyperpotassemia and hypertension |
GTR |
C1449844 |
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potassium are important in the control of blood pressure, and their regulation |
ar |
autosomal recessive |
KLHL3 |
https://ghr.nlm.nih.gov/gene/KLHL3 |
familial hypertensive hyperkalemia |
db |
key |
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occurs primarily in the kidneys. |
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related-gene |
gene-symbol |
ghr-page |
FHHt |
GeneReviews |
pha2 |
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html:p |
People with PHA2 have high blood pressure (hypertension) and high levels of |
WNK1 |
https://ghr.nlm.nih.gov/gene/WNK1 |
Gordon hyperkalemia-hypertension syndrome |
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potassium in their blood (hyperkalemia) despite having normal kidney function. |
related-gene |
gene-symbol |
ghr-page |
Gordon's syndrome |
MeSH |
D011546 |
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The age of onset of PHA2 is variable and difficult to pinpoint; some affected |
WNK4 |
https://ghr.nlm.nih.gov/gene/WNK4 |
PHAII |
db |
key |
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individuals are diagnosed in infancy or childhood, and others are diagnosed in |
pseudohypoaldosteronism type II |
OMIM |
145260 |
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adulthood. Hyperkalemia usually occurs first, and hypertension develops later in |
db |
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life. Affected individuals also have high levels of chloride (hyperchloremia) |
OMIM |
614491 |
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and acid (metabolic acidosis) in their blood (together, referred to as |
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key |
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hyperchloremic metabolic acidosis). People with hyperkalemia, hyperchloremia, |
OMIM |
614492 |
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and metabolic acidosis can have nonspecific symptoms like nausea, vomiting, |
db |
key |
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extreme tiredness (fatigue), and muscle weakness. People with PHA2 may also have |
OMIM |
614495 |
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high levels of calcium in their urine (hypercalciuria). |
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db |
key |
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OMIM |
614496 |
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Pseudohypoparathyroidism; PHP |
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db |
key |
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假性副甲狀腺低下症 |
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Orphanet |
757 |
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related-gene-list |
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SNOMED CT |
15689008 |
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Pseudoxanthoma elasticum |
https://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum |
PXE affects approximately 1 in 50,000 people worldwide. For reasons that |
html:p |
Pseudoxanthoma elasticum (PXE) is a progressive disorder that is characterized |
ad |
autosomal dominant |
ABCC6 |
https://ghr.nlm.nih.gov/gene/ABCC6 |
Groenblad-Strandberg syndrome |
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key |
2015-01 |
2017-12-29 |
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弹性纤维假黄瘤 |
are unclear, this disorder is diagnosed twice as frequently in females as in |
by the accumulation of deposits of calcium and other minerals (mineralization) |
code |
memo |
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Gronblad-Strandberg syndrome |
GTR |
C0033847 |
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males. |
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in elastic fibers. Elastic fibers are a component of connective tissue, which |
ar |
autosomal recessive |
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PXE |
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provides strength and flexibility to structures throughout the body. |
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GeneReviews |
pxe |
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html:p |
In PXE, mineralization can affect elastic fibers in the skin, eyes, and blood |
db |
key |
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vessels, and less frequently in other areas such as the digestive tract. People |
MeSH |
D011561 |
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with PXE may have yellowish bumps called papules on their necks, underarms, and |
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other areas of skin that touch when a joint bends (flexor areas). They may also |
OMIM |
177850 |
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have abnormalities in the eyes, such as a change in the pigmented cells of the |
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retina (the light-sensitive layer of cells at the back of the eye) known as peau |
OMIM |
264800 |
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d'orange. Another eye abnormality known as angioid streaks occurs when tiny |
db |
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breaks form in the layer of tissue under the retina called Bruch's membrane. |
Orphanet |
758 |
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Bleeding and scarring of the retina may also occur, which can cause vision loss. |
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html:p |
Mineralization of the blood vessels that carry blood from the heart to the rest |
SNOMED CT |
252246005 |
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of the body (arteries) may cause other signs and symptoms of PXE. For example, |
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people with this condition can develop narrowing of the arteries |
|
SNOMED CT |
72744008 |
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(arteriosclerosis) or a condition called claudication that is characterized by |
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cramping and pain during exercise due to decreased blood flow to the arms and |
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legs. Rarely, bleeding from blood vessels in the digestive tract may also occur. |
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Psoriasis |
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乾癬 |
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related-gene-list |
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Psoriatic arthritis |
https://ghr.nlm.nih.gov/condition/psoriatic-arthritis |
Psoriatic arthritis affects an estimated 24 in 10,000 people.Between 5 and |
html:p |
Psoriatic arthritis is a condition involving joint inflammation (arthritis) that |
u |
pattern unknown |
CARD14 |
https://ghr.nlm.nih.gov/gene/CARD14 |
arthropathic psoriasis |
db |
key |
2014-08 |
2017-12-29 |
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牛皮癣性关节炎 |
10 percent of people with psoriasis develop psoriatic arthritis, according to |
usually occurs in combination with a skin disorder called psoriasis. Psoriasis |
related-gene |
gene-symbol |
ghr-page |
psoriatic arthropathy |
GTR |
C1835223 |
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most estimates. Some studies suggest a figure as high as 30 percent. Psoriasis |
is a chronic inflammatory condition characterized by patches of red, irritated |
HLA-B |
https://ghr.nlm.nih.gov/gene/HLA-B |
db |
key |
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itself is a common disorder, affecting approximately 2 to 3 percent of the |
skin that are often covered by flaky white scales. People with psoriasis may |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
L40.5 |
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population worldwide. |
also have changes in their fingernails and toenails, such as nails that become |
HLA-C |
https://ghr.nlm.nih.gov/gene/HLA-C |
db |
key |
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pitted or ridged, crumble, or separate from the nail beds. |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
L40.50 |
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html:p |
Signs and symptoms of psoriatic arthritis include stiff, painful joints with |
HLA-DRB1 |
https://ghr.nlm.nih.gov/gene/HLA-DRB1 |
db |
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redness, heat, and swelling in the surrounding tissues. When the hands and feet |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
L40.51 |
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are affected, swelling and redness may result in a "sausage-like" appearance of |
IL12B |
https://ghr.nlm.nih.gov/gene/IL12B |
db |
key |
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the fingers or toes (dactylitis). |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
L40.52 |
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html:p |
In most people with psoriatic arthritis, psoriasis appears before joint problems |
IL13 |
https://ghr.nlm.nih.gov/gene/IL13 |
db |
key |
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develop. Psoriasis typically begins during adolescence or young adulthood, and |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
L40.53 |
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psoriatic arthritis usually occurs between the ages of 30 and 50. However, both |
IL23R |
https://ghr.nlm.nih.gov/gene/IL23R |
db |
key |
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conditions may occur at any age. In a small number of cases, psoriatic arthritis |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
L40.54 |
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develops in the absence of noticeable skin changes. |
TRAF3IP2 |
https://ghr.nlm.nih.gov/gene/TRAF3IP2 |
db |
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html:p |
Psoriatic arthritis may be difficult to distinguish from other forms of |
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ICD-10-CM |
L40.59 |
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arthritis, particularly when skin changes are minimal or absent. Nail changes |
db |
key |
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and dactylitis are two features that are characteristic of psoriatic arthritis, |
|
MeSH |
D015535 |
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although they do not occur in all cases. |
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html:p |
Psoriatic arthritis is categorized into five types: distal interphalangeal |
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OMIM |
607507 |
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predominant, asymmetric oligoarticular, symmetric polyarthritis, spondylitis, |
db |
key |
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and arthritis mutilans. |
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|
SNOMED CT |
33339001 |
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html:p |
The distal interphalangeal predominant type affects mainly the ends of the |
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fingers and toes. The distal interphalangeal joints are those closest to the |
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nails. Nail changes are especially frequent with this form of psoriatic |
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arthritis. |
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html:p |
The asymmetric oligoarticular and symmetric polyarthritis types are the most |
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common forms of psoriatic arthritis. The asymmetric oligoarticular type of |
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psoriatic arthritis involves different joints on each side of the body, while |
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the symmetric polyarthritis form affects the same joints on each side. Any joint |
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in the body may be affected in these forms of the disorder, and symptoms range |
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from mild to severe. |
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html:p |
Some individuals with psoriatic arthritis have joint involvement that primarily |
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involves spondylitis, which is inflammation in the joints between the vertebrae |
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in the spine. Symptoms of this form of the disorder involve pain and stiffness |
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in the back or neck, and movement is often impaired. Joints in the arms, legs, |
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hands, and feet may also be involved. |
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html:p |
The most severe and least common type of psoriatic arthritis is called arthritis |
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mutilans. Fewer than 5 percent of individuals with psoriatic arthritis have |
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this form of the disorder. Arthritis mutilans involves severe inflammation that |
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damages the joints in the hands and feet, resulting in deformation and movement |
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problems. Bone loss (osteolysis) at the joints may lead to shortening |
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(telescoping) of the fingers and toes. Neck and back pain may also occur. |
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related-gene-list |
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Pulmonary alveolar microlithiasis |
https://ghr.nlm.nih.gov/condition/pulmonary-alveolar-microlithiasis |
Pulmonary alveolar microlithiasis is a rare disorder; its prevalence is |
html:p |
Pulmonary alveolar microlithiasis is a disorder in which many tiny fragments |
ar |
autosomal recessive |
SLC34A2 |
https://ghr.nlm.nih.gov/gene/SLC34A2 |
PAM |
db |
key |
2014-12 |
2017-12-29 |
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肺泡微石症 |
unknown. About 600 affected individuals have been described in the medical |
(microliths) of a compound called calcium phosphate gradually accumulate in the |
GTR |
C0155912 |
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(Lung) |
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literature, of whom about a quarter are of Turkish descent. The remainder come |
small air sacs (alveoli) located throughout the lungs. These deposits eventually |
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from populations worldwide. |
cause widespread damage to the alveoli and surrounding lung tissue |
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ICD-10-CM |
J84.02 |
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(interstitial lung disease) that leads to breathing problems. People with this |
db |
key |
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disorder can develop a persistent cough and difficulty breathing (dyspnea), |
MeSH |
D017563 |
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especially during physical exertion. Affected individuals may also experience |
db |
key |
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chest pain that worsens when coughing, sneezing, or taking deep breaths. |
OMIM |
265100 |
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html:p |
Pulmonary alveolar microlithiasis is usually diagnosed before age 40. Often the |
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disorder is discovered before symptoms develop, when medical imaging is done for |
Orphanet |
60025 |
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other reasons. The condition typically worsens slowly over many years, although |
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some affected individuals have signs and symptoms that remain stable for long |
SNOMED CT |
87153008 |
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periods of time. |
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html:p |
People with pulmonary alveolar microlithiasis can also develop calcium phosphate |
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deposits in other organs and tissues of the body, including the kidneys, |
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gallbladder, testes, and the valve that connects a large blood vessel called the |
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aorta with the heart (the aortic valve). In rare cases, affected individuals |
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have complications related to accumulation of these deposits, such as a |
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narrowing (stenosis) of the aortic valve that can impede normal blood flow. |
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related-gene-list |
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Pulmonary arterial hypertension |
https://ghr.nlm.nih.gov/condition/pulmonary-arterial-hypertension |
In the United States, about 1,000 new cases of pulmonary arterial |
html:p |
Pulmonary arterial hypertension is a progressive disorder characterized by |
ad |
autosomal dominant |
ACVRL1 |
https://ghr.nlm.nih.gov/gene/ACVRL1 |
Ayerza syndrome |
db |
key |
2016-01 |
2017-12-29 |
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肺動脈高壓 |
hypertension are diagnosed each year. This disorder is twice as common in |
abnormally high blood pressure (hypertension) in the pulmonary artery, the blood |
related-gene |
gene-symbol |
ghr-page |
familial primary pulmonary hypertension |
GTR |
C0152171 |
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females as in males. |
vessel that carries blood from the heart to the lungs. Pulmonary arterial |
BMPR1B |
https://ghr.nlm.nih.gov/gene/BMPR1B |
FPPH |
db |
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hypertension is one form of a broader condition known as pulmonary hypertension. |
related-gene |
gene-symbol |
ghr-page |
idiopathic pulmonary hypertension |
GTR |
C3809192 |
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Pulmonary hypertension occurs when most of the very small arteries throughout |
BMPR2 |
https://ghr.nlm.nih.gov/gene/BMPR2 |
PAH |
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the lungs narrow in diameter, which increases the resistance to blood flow |
related-gene |
gene-symbol |
ghr-page |
PPH |
GTR |
C3809198 |
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through the lungs. To overcome the increased resistance, blood pressure |
CAV1 |
https://ghr.nlm.nih.gov/gene/CAV1 |
PPHT |
db |
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increases in the pulmonary artery and in the right ventricle of the heart, which |
related-gene |
gene-symbol |
ghr-page |
primary pulmonary hypertension |
GTR |
C3888002 |
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is the chamber that pumps blood into the pulmonary artery. Ultimately, the |
CBLN2 |
https://ghr.nlm.nih.gov/gene/CBLN2 |
sporadic primary pulmonary hypertension |
db |
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increased blood pressure can damage the right ventricle of the heart. |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
pph |
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html:p |
Signs and symptoms of pulmonary arterial hypertension occur when increased blood |
EIF2AK4 |
https://ghr.nlm.nih.gov/gene/EIF2AK4 |
db |
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pressure cannot fully overcome the elevated resistance. As a result, the flow |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
I27.0 |
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of oxygenated blood from the lungs to the rest of the body is insufficient. |
ENG |
https://ghr.nlm.nih.gov/gene/ENG |
db |
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Shortness of breath (dyspnea) during exertion and fainting spells are the most |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D065627 |
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common symptoms of pulmonary arterial hypertension. People with this disorder |
KCNA5 |
https://ghr.nlm.nih.gov/gene/KCNA5 |
db |
key |
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may experience additional symptoms, particularly as the condition worsens. |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
178600 |
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Other symptoms include dizziness, swelling (edema) of the ankles or legs, chest |
KCNK3 |
https://ghr.nlm.nih.gov/gene/KCNK3 |
db |
key |
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pain, and a rapid heart rate. |
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related-gene |
gene-symbol |
ghr-page |
|
OMIM |
615342 |
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SMAD9 |
https://ghr.nlm.nih.gov/gene/SMAD9 |
db |
key |
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OMIM |
615343 |
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db |
key |
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OMIM |
615344 |
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db |
key |
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Orphanet |
422 |
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Orphanet |
182090 |
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Orphanet |
275766 |
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Orphanet |
275777 |
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SNOMED CT |
233943009 |
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SNOMED CT |
233944003 |
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SNOMED CT |
697897003 |
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related-gene-list |
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SNOMED CT |
78862003 |
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Pulmonary veno-occlusive disease |
https://ghr.nlm.nih.gov/condition/pulmonary-veno-occlusive-disease |
The exact prevalence of PVOD is unknown. Many cases are likely misdiagnosed |
html:p |
Pulmonary veno-occlusive disease (PVOD) is characterized by the blockage |
ad |
autosomal dominant |
BMPR2 |
https://ghr.nlm.nih.gov/gene/BMPR2 |
isolated pulmonary venous sclerosis |
db |
key |
2015-03 |
2017-12-29 |
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肺靜脈閉塞性疾病 |
as idiopathic pulmonary arterial hypertension, which is increased blood |
(occlusion) of the blood vessels that carry oxygen-rich (oxygenated) blood from |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
obstructive disease of the pulmonary veins |
GTR |
C0034091 |
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pressure in the pulmonary arteries without a known cause. Research suggests that |
the lungs to the heart (the pulmonary veins). The occlusion is caused by a |
ar |
autosomal recessive |
EIF2AK4 |
https://ghr.nlm.nih.gov/gene/EIF2AK4 |
pulmonary venoocclusive disease |
db |
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5 to 25 percent of people diagnosed with idiopathic pulmonary arterial |
buildup of abnormal fibrous tissue in the small veins in the lungs, which |
PVOD |
MeSH |
D011668 |
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hypertension have PVOD. Based on these numbers, PVOD is thought to affect an |
narrows the vessels and impairs blood flow. Because blood flow through the lungs |
venous form of primary pulmonary hypertension |
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estimated 1 to 2 per 10 million people. |
is difficult, pressure rises in the vessels that carry blood that needs to be |
|
OMIM |
234810 |
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oxygenated to the lungs from the heart (the pulmonary arteries). Increased |
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pressure in these vessels is known as pulmonary arterial hypertension. |
|
OMIM |
265450 |
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html:p |
The problems with blood flow in PVOD also impair the delivery of oxygenated |
db |
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blood to the rest of the body, which leads to the signs and symptoms of the |
Orphanet |
31837 |
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condition. Shortness of breath (dyspnea) and tiredness (fatigue) during exertion |
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are the most common symptoms of this condition. Other common features include |
SNOMED CT |
89420002 |
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dizziness, a lack of energy (lethargy), difficulty breathing when lying down, |
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and a cough that does not go away. As the condition worsens, affected |
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individuals can develop a bluish tint to the skin (cyanosis), chest pains, |
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fainting spells, and an accumulation of fluid in the lungs (pulmonary edema). |
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html:p |
Certain features commonly seen in people with PVOD can be identified using a |
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test called a CT scan. One of these features, which is seen in the lungs of |
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affected individuals, is an abnormality described as centrilobular ground-glass |
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opacities. Affected individuals also have abnormal thickening of certain tissues |
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in the lungs, which is described as septal lines. In addition, lymph nodes in |
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the chest (mediastinal lymph nodes) are abnormally enlarged in people with PVOD. |
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html:p |
PVOD can begin at any age, and the blood flow problems worsen over time. Because |
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of the increased blood pressure in the pulmonary arteries, the heart must work |
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harder than normal to pump blood to the lungs, which can eventually lead to |
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fatal heart failure. Most people with this severe disorder do not live more than |
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2 years after diagnosis. |
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inheritance-pattern-list |
related-gene-list |
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PURA syndrome |
https://ghr.nlm.nih.gov/condition/pura-syndrome |
PURA syndrome is a rare condition affecting at least 70 individuals. It is |
html:p |
html:i |
|
|
ad |
autosomal dominant |
ghr-page |
PURA-related neurodevelopmental disorder |
db-key |
db |
key |
2017-08 |
2017-12-29 |
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PURA綜合症 |
estimated to account for fewer than 1 percent of cases of developmental delay. |
PURA |
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https://ghr.nlm.nih.gov/gene/PURA |
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome |
GeneReviews |
pura-dis |
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db-key |
db |
key |
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MeSH |
D065886 |
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syndrome may learn to walk later than their peers; many are never able to walk. |
db-key |
db |
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In infancy, affected infants have very weak muscle tone (hypotonia) and feeding |
|
Orphanet |
438213 |
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difficulties. Problems with swallowing (dysphagia) can last throughout life. In |
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addition, affected infants can be excessively sleepy (hypersomnolent), have a |
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low body temperature (hypothermia), and have short pauses in breathing (apnea) |
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or episodes of abnormally slow breathing (hypoventilation). These breathing |
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problems usually go away after age 1. |
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html:p |
html:i |
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PURA |
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syndrome, seizures are often difficult to control. |
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html:p |
html:i |
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PURA |
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related-gene-list |
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Purine nucleoside phosphorylase deficiency |
https://ghr.nlm.nih.gov/condition/purine-nucleoside-phosphorylase-deficiency |
Purine nucleoside phosphorylase deficiency is rare; only about 70 affected |
html:p |
Purine nucleoside phosphorylase deficiency is one of several disorders that |
ar |
autosomal recessive |
PNP |
https://ghr.nlm.nih.gov/gene/PNP |
nucleoside phosphorylase deficiency |
db |
key |
2012-04 |
2017-12-29 |
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嘌呤核苷磷酸化酶缺乏症 |
individuals have been identified. This disorder accounts for approximately 4 |
damage the immune system and cause severe combined immunodeficiency (SCID). |
PNP deficiency |
GTR |
C0268125 |
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percent of all SCID cases. |
People with SCID lack virtually all immune protection from foreign invaders such |
db |
key |
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as bacteria, viruses, and fungi. Affected individuals are prone to repeated and |
ICD-10-CM |
D81.5 |
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persistent infections that can be very serious or life-threatening. These |
db |
key |
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infections are often caused by "opportunistic" organisms that ordinarily do not |
MeSH |
D016511 |
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cause illness in people with a normal immune system. Infants with SCID typically |
db |
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grow much more slowly than healthy children and experience pneumonia, chronic |
OMIM |
613179 |
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diarrhea, and widespread skin rashes. Without successful treatment to restore |
db |
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immune function, children with SCID usually do not survive past early childhood. |
Orphanet |
760 |
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html:p |
About two-thirds of individuals with purine nucleoside phosphorylase deficiency |
db |
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have neurological problems, which may include developmental delay, intellectual |
SNOMED CT |
60743005 |
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disability, difficulties with balance and coordination (ataxia), and muscle |
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stiffness (spasticity). People with purine nucleoside phosphorylase deficiency |
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are also at increased risk of developing autoimmune disorders, which occur when |
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the immune system malfunctions and attacks the body's tissues and organs. |
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related-gene-list |
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Pyle disease |
https://ghr.nlm.nih.gov/condition/pyle-disease |
Pyle disease is thought to be a rare disorder, although its prevalence is |
html:p |
Pyle disease is a disorder of the bones. Its hallmark feature is an abnormality |
ar |
autosomal recessive |
SFRP4 |
https://ghr.nlm.nih.gov/gene/SFRP4 |
metaphyseal dysplasia, Pyle type |
db |
key |
2017-03 |
2017-12-29 |
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派爾病 |
|
unknown. More than 25 cases have been described in the medical literature. |
of the long bones in the arms and legs in which the ends (metaphyses) of the |
Pyle metaphyseal dysplasia |
GTR |
C0265294 |
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bones are abnormally broad; the shape of the bones resembles a boat oar or |
Pyle's disease |
db |
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paddle. The broad metaphyses are due to enlargement of the spongy inner layer of |
Pyle's metaphyseal dysplasia syndrome |
ICD-10-CM |
Q78.5 |
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bone (trabecular bone). Although trabecular bone is expanded, the dense |
db |
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outermost layer of bone (cortical bone) is thinner than normal. As a result, the |
MeSH |
D010009 |
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bones are fragile and fracture easily. The bone abnormalities in the legs |
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db |
key |
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commonly cause knock knees (genu valgum) in affected individuals. |
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OMIM |
265900 |
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html:p |
Other bone abnormalities can also occur in Pyle disease. Affected individuals |
db |
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may have widened collar bones (clavicles), ribs, or bones in the fingers and |
Orphanet |
3005 |
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hands. Dental problems are common in Pyle disease, including delayed appearance |
db |
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(eruption) of permanent teeth and misalignment of the top and bottom teeth |
SNOMED CT |
27837003 |
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(malocclusion). |
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Pyridoxamine 5-prime-phosphate oxidase deficiency |
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吡哆胺五端磷酸氧化酶缺乏 |
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related-gene-list |
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Pyridoxal 5'-phosphate-dependent epilepsy |
https://ghr.nlm.nih.gov/condition/pyridoxal-5-phosphate-dependent-epilepsy |
Pyridoxal 5'-phosphate-dependent epilepsy is a rare condition; |
html:p |
Pyridoxal 5'-phosphate-dependent epilepsy is a condition that involves seizures |
ar |
autosomal recessive |
PNPO |
https://ghr.nlm.nih.gov/gene/PNPO |
PNPO Deficiency |
db |
key |
2008-06 |
2017-12-29 |
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approximately 14 cases have been described in the scientific literature. |
beginning soon after birth or, in some cases, before birth. The seizures |
PNPO-Related Neonatal Epileptic Encephalopathy |
GTR |
C1864723 |
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typically involve irregular involuntary muscle contractions (myoclonus), |
pyridoxamine 5-prime-phosphate oxidase deficiency |
db |
key |
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abnormal eye movements, and convulsions. Most babies with this condition are |
pyridoxine-5'-phosphate oxidase deficiency |
MeSH |
D004827 |
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born prematurely and may have a temporary, potentially toxic, increase in lactic |
db |
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acid in the blood (lactic acidosis). Additionally, some infants have a slow |
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OMIM |
610090 |
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heart rate and a lack of oxygen during delivery (fetal distress). |
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key |
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html:p |
Anticonvulsant drugs, which are usually given to control seizures, are |
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Orphanet |
79096 |
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ineffective in people with pyridoxal 5'-phosphate-dependent epilepsy. Instead, |
db |
key |
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individuals with this type of epilepsy are medically treated with large daily |
SNOMED CT |
124174008 |
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doses of pyridoxal 5'-phosphate (a form of vitamin B6). If left untreated, |
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people with this condition can develop severe brain dysfunction |
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(encephalopathy), which can lead to death. Even though seizures can be |
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controlled with pyridoxal 5'-phosphate, neurological problems such as |
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developmental delay and learning disorders may still occur. |
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related-gene-list |
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Pyridoxine-dependent epilepsy |
https://ghr.nlm.nih.gov/condition/pyridoxine-dependent-epilepsy |
Pyridoxine-dependent epilepsy occurs in 1 in 100,000 to 700,000 |
html:p |
Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in |
ar |
autosomal recessive |
ALDH7A1 |
https://ghr.nlm.nih.gov/gene/ALDH7A1 |
AASA dehydrogenase deficiency |
db |
key |
2013-02 |
2017-12-29 |
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吡哆醇依賴性癲癇 |
individuals. At least 100 cases have been reported worldwide. |
infancy or, in some cases, before birth. Those affected typically experience |
EPD |
GTR |
C1849508 |
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prolonged seizures lasting several minutes (status epilepticus). These seizures |
epilepsy, pyridoxine-dependent |
db |
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involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic |
PDE |
GeneReviews |
pds |
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seizures). Additional features of pyridoxine-dependent epilepsy include low |
pyridoxine dependency |
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body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, |
Pyridoxine Dependency |
MeSH |
D012640 |
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and irritability before a seizure episode. In rare instances, children with |
pyridoxine dependency with seizures |
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this condition do not have seizures until they are 1 to 3 years old. |
pyridoxine-dependent seizures |
OMIM |
266100 |
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html:p |
Anticonvulsant drugs, which are usually given to control seizures, are |
vitamin B6-dependent seizures |
db |
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ineffective in people with pyridoxine-dependent epilepsy. Instead, people with |
Orphanet |
3006 |
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this type of seizure are medically treated with large daily doses of pyridoxine |
db |
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(a type of vitamin B6 found in food). If left untreated, people with this |
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SNOMED CT |
28602001 |
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condition can develop severe brain dysfunction (encephalopathy). Even though |
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seizures can be controlled with pyridoxine, neurological problems such as |
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developmental delay and learning disorders may still occur. |
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related-gene-list |
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Pyruvate carboxylase deficiency |
https://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency |
Pyruvate carboxylase deficiency is a rare condition, with an estimated |
html:p |
Pyruvate carboxylase deficiency is an inherited disorder that causes lactic acid |
ar |
autosomal recessive |
PC |
https://ghr.nlm.nih.gov/gene/PC |
ataxia with lactic acidosis, type II |
db |
key |
2017-08 |
2017-12-29 |
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丙酮酸羧化酶缺乏症 |
incidence of 1 in 250,000 births worldwide. Type A appears to be much more |
and other potentially toxic compounds to accumulate in the blood. High levels |
Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency |
GTR |
C0034341 |
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common in some Algonkian Indian tribes in eastern Canada. |
of these substances can damage the body's organs and tissues, particularly in |
Leigh syndrome due to pyruvate carboxylase deficiency |
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the nervous system. |
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PC deficiency |
GeneReviews |
pdc |
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html:p |
Researchers have identified at least three types of pyruvate carboxylase |
pyruvate carboxylase deficiency disease |
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deficiency, which are distinguished by the severity of their signs and symptoms. |
type II ataxia with lactic acidosis |
ICD-10-CM |
E74.4 |
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Type A, which has been identified mostly in people from North America, has |
db |
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severe symptoms that begin in infancy. Characteristic features include |
MeSH |
D015324 |
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developmental delay and a buildup of lactic acid in the blood (lactic acidosis). |
db |
key |
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Increased acidity in the blood can lead to vomiting, abdominal pain, extreme |
OMIM |
266150 |
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tiredness (fatigue), muscle weakness, and difficulty breathing. In some cases, |
db |
key |
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episodes of lactic acidosis are triggered by an illness or periods without food |
Orphanet |
3008 |
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(fasting). Children with pyruvate carboxylase deficiency type A typically |
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survive only into infancy or early childhood. |
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SNOMED CT |
87694001 |
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html:p |
Pyruvate carboxylase deficiency type B has life-threatening signs and symptoms |
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that become apparent shortly after birth. This form of the condition has been |
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reported mostly in Europe, particularly France. Affected infants have severe |
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lactic acidosis, a buildup of ammonia in the blood (hyperammonemia), and liver |
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failure. They experience neurological problems including weak muscle tone |
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(hypotonia), abnormal movements, seizures, and coma. Infants with this form of |
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the condition usually survive for less than 3 months after birth. |
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html:p |
A milder form of pyruvate carboxylase deficiency, sometimes called type C, has |
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also been described. This type is characterized by slightly increased levels of |
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lactic acid in the blood and minimal signs and symptoms affecting the nervous |
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system. |
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related-gene-list |
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Pyruvate dehydrogenase deficiency |
https://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency |
Pyruvate dehydrogenase deficiency is believed to be a rare condition; |
html:p |
Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical |
ar |
autosomal recessive |
DLAT |
https://ghr.nlm.nih.gov/gene/DLAT |
ataxia with lactic acidosis |
db |
key |
2012-07 |
2017-12-29 |
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丙酮酸鹽脫氫酵素缺乏症 |
however, its prevalence is unknown. |
called lactic acid in the body and a variety of neurological problems. Signs and |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
intermittent ataxia with pyruvate dehydrogenase deficiency |
GTR |
C0034345 |
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symptoms of this condition usually first appear shortly after birth, and they |
xr |
X-linked recessive |
PDHA1 |
https://ghr.nlm.nih.gov/gene/PDHA1 |
PDH deficiency |
db |
key |
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can vary widely among affected individuals. The most common feature is a |
related-gene |
gene-symbol |
ghr-page |
PDHC deficiency |
GTR |
C1837429 |
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potentially life-threatening buildup of lactic acid (lactic acidosis), which can |
PDHB |
https://ghr.nlm.nih.gov/gene/PDHB |
pyruvate dehydrogenase complex deficiency |
db |
key |
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cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1839413 |
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People with pyruvate dehydrogenase deficiency usually have neurological problems |
PDHX |
https://ghr.nlm.nih.gov/gene/PDHX |
db |
key |
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as well. Most have delayed development of mental abilities and motor skills |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1855553 |
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such as sitting and walking. Other neurological problems can include |
PDP1 |
https://ghr.nlm.nih.gov/gene/PDP1 |
db |
key |
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intellectual disability, seizures, weak muscle tone (hypotonia), poor |
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GTR |
C1855565 |
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coordination, and difficulty walking. Some affected individuals have abnormal |
db |
key |
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brain structures, such as underdevelopment of the tissue connecting the left and |
GTR |
C3279841 |
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right halves of the brain (corpus callosum), wasting away (atrophy) of the |
db |
key |
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exterior part of the brain known as the cerebral cortex, or patches of damaged |
MeSH |
D015325 |
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tissue (lesions) on some parts of the brain. Because of the severe health |
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db |
key |
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effects, many individuals with pyruvate dehydrogenase deficiency do not survive |
OMIM |
245348 |
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past childhood, although some may live into adolescence or adulthood. |
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key |
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OMIM |
245349 |
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db |
key |
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OMIM |
312170 |
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db |
key |
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OMIM |
608782 |
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db |
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OMIM |
614111 |
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db |
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Orphanet |
765 |
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db |
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related-gene-list |
|
SNOMED CT |
46683007 |
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Pyruvate kinase deficiency |
https://ghr.nlm.nih.gov/condition/pyruvate-kinase-deficiency |
Pyruvate kinase deficiency is the most common inherited cause of |
html:p |
Pyruvate kinase deficiency is an inherited disorder that affects red blood |
ar |
autosomal recessive |
PKLR |
https://ghr.nlm.nih.gov/gene/PKLR |
PK deficiency |
db |
key |
2012-04 |
2017-12-29 |
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丙酮酸激酶缺乏症 |
nonspherocytic hemolytic anemia. More than 500 affected families have been |
cells, which carry oxygen to the body's tissues. People with this disorder have |
PKD |
GTR |
C1849472 |
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identified, and studies suggest that the disorder may be underdiagnosed because |
a condition known as chronic hemolytic anemia, in which red blood cells are |
db |
key |
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mild cases may not be identified.Pyruvate kinase deficiency is found in all |
broken down (undergo hemolysis) prematurely, resulting in a shortage of red |
ICD-10-CM |
D55.2 |
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ethnic groups. Its prevalence has been estimated at 1 in 20,000 people of |
blood cells (anemia). Specifically, pyruvate kinase deficiency is a common cause |
db |
key |
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European descent. It is more common in the Old Order Amish population of |
of a type of inherited hemolytic anemia called hereditary nonspherocytic |
MeSH |
D000745 |
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Pennsylvania. |
hemolytic anemia. In hereditary nonspherocytic hemolytic anemia, the red blood |
db |
key |
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cells do not assume a spherical shape as they do in some other forms of |
OMIM |
266200 |
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hemolytic anemia. |
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db |
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html:p |
Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of |
Orphanet |
766 |
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the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath |
db |
key |
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(dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen |
|
SNOMED CT |
124331002 |
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(splenomegaly), an excess of iron in the blood, and small pebble-like deposits |
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in the gallbladder or bile ducts (gallstones) are also common in this disorder. |
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html:p |
In people with pyruvate kinase deficiency, hemolytic anemia and associated |
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complications may range from mild to severe. Some affected individuals have few |
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or no symptoms. Severe cases can be life-threatening in infancy, and such |
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affected individuals may require regular blood transfusions to survive. The |
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symptoms of this disorder may get worse during an infection or pregnancy. |
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related-gene-list |
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Rabson-Mendenhall syndrome |
https://ghr.nlm.nih.gov/condition/rabson-mendenhall-syndrome |
Rabson-Mendenhall syndrome is estimated to affect less than 1 per million |
html:p |
Rabson-Mendenhall syndrome is a rare disorder characterized by severe insulin |
ar |
autosomal recessive |
INSR |
https://ghr.nlm.nih.gov/gene/INSR |
Mendenhall syndrome |
db |
key |
2014-12 |
2017-12-29 |
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Rabson-Mendenhall綜合徵 |
people worldwide. Several dozen cases have been reported in the medical |
resistance, a condition in which the body's tissues and organs do not respond |
pineal hyperplasia and diabetes mellitus syndrome |
GTR |
C0271695 |
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literature. |
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properly to the hormone insulin. Insulin normally helps regulate blood sugar |
pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic |
db |
key |
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levels by controlling how much sugar (in the form of glucose) is passed from the |
abnormalities |
MeSH |
D056731 |
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bloodstream into cells to be used as energy. In people with Rabson-Mendenhall |
RMS |
db |
key |
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syndrome, insulin resistance impairs blood sugar regulation and ultimately leads |
OMIM |
262190 |
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to a condition called diabetes mellitus, in which blood sugar levels can become |
db |
key |
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dangerously high. |
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Orphanet |
769 |
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html:p |
Severe insulin resistance in people with Rabson-Mendenhall syndrome affects the |
db |
key |
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development of many parts of the body. Affected individuals are unusually small |
SNOMED CT |
33559001 |
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starting before birth, and infants experience failure to thrive, which means |
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they do not grow and gain weight at the expected rate. Additional features of |
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the condition that become apparent early in life include a lack of fatty tissue |
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under the skin (subcutaneous fat); wasting (atrophy) of muscles; dental |
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abnormalities; excessive body hair growth (hirsutism); multiple cysts on the |
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ovaries in females; and enlargement of the nipples, genitalia, kidneys, heart, |
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and other organs. Most affected individuals also have a skin condition called |
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acanthosis nigricans, in which the skin in body folds and creases becomes thick, |
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dark, and velvety. Distinctive facial features in people with Rabson-Mendenhall |
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syndrome include prominent, widely spaced eyes; a broad nose; and large, |
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low-set ears. |
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html:p |
Rabson-Mendenhall syndrome is one of a group of related conditions described as |
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inherited severe insulin resistance syndromes. These disorders, which also |
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include Donohue syndrome and type A insulin resistance syndrome, are considered |
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part of a spectrum. Rabson-Mendenhall syndrome is intermediate in severity |
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between Donohue syndrome (which is usually fatal before age 2) and type A |
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insulin resistance syndrome (which is often not diagnosed until adolescence). |
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People with Rabson-Mendenhall syndrome develop signs and symptoms early in life |
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and live into their teens or twenties. Death usually results from complications |
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related to diabetes mellitus, such as a toxic buildup of acids called ketones in |
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the body (diabetic ketoacidosis). |
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RAG-deficient severe combined immunodeficiency, RAGdeficient SCID |
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嚴重複合型免疫缺乏症 |
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related-gene-list |
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RAPADILINO syndrome |
https://ghr.nlm.nih.gov/condition/rapadilino-syndrome |
RAPADILINO syndrome is a rare condition, although its worldwide prevalence |
html:p |
RAPADILINO syndrome is a rare condition that involves many parts of the body. |
ar |
autosomal recessive |
RECQL4 |
https://ghr.nlm.nih.gov/gene/RECQL4 |
absent thumbs, dislocated joints, long face with narrow palpebral fissures, long |
db |
key |
2013-08 |
2017-12-29 |
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is unknown. The condition was first identified in Finland, where it affects an |
Bone development is especially affected, causing many of the characteristic |
slender nose, arched palate |
GTR |
C1849453 |
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estimated 1 in 75,000 individuals, although it has since been found in other |
features of the condition. |
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radial and patellar aplasia |
db |
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regions. |
html:p |
Most affected individuals have underdevelopment or absence of the bones in the |
radial and patellar hypoplasia |
MeSH |
D001848 |
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forearms and the thumbs, which are known as radial ray malformations. The |
db |
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kneecaps (patellae) can also be underdeveloped or absent. Other features include |
OMIM |
266280 |
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an opening in the roof of the mouth (cleft palate) or a high arched palate; a |
db |
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long, slender nose; and dislocated joints. |
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Orphanet |
3021 |
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html:p |
Many infants with RAPADILINO syndrome have difficulty feeding and experience |
db |
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diarrhea and vomiting. The combination of impaired bone development and feeding |
SNOMED CT |
702413000 |
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problems leads to slow growth and short stature in affected individuals. |
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html:p |
Some individuals with RAPADILINO syndrome have harmless light brown patches of |
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skin that resemble a skin finding known as café-au-lait spots. In addition, |
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people with RAPADILINO syndrome have a slightly increased risk of developing a |
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type of bone cancer known as osteosarcoma or a blood-related cancer called |
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lymphoma. In individuals with RAPADILINO syndrome, osteosarcoma most often |
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develops during childhood or adolescence, and lymphoma typically develops in |
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young adulthood. |
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html:p |
The condition name is an acronym for the characteristic features of the |
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disorder: RA for radial ray malformations, PA for patella and palate |
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abnormalities, DI for diarrhea and dislocated joints, LI for limb abnormalities |
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and little size, and NO for slender nose and normal intelligence. |
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html:p |
The varied signs and symptoms of RAPADILINO syndrome overlap with features of |
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other disorders, namely Baller-Gerold syndrome and Rothmund-Thomson syndrome. |
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These syndromes are also characterized by radial ray defects, skeletal |
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abnormalities, and slow growth. All of these conditions can be caused by |
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mutations in the same gene. Based on these similarities, researchers are |
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investigating whether Baller-Gerold syndrome, Rothmund-Thomson syndrome, and |
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RAPADILINO syndrome are separate disorders or part of a single syndrome with |
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overlapping signs and symptoms. |
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related-gene-list |
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Rapid-onset dystonia parkinsonism |
https://ghr.nlm.nih.gov/condition/rapid-onset-dystonia-parkinsonism |
Rapid-onset dystonia parkinsonism appears to be a rare disorder, although |
html:p |
Rapid-onset dystonia parkinsonism is a rare movement disorder. "Rapid-onset" |
ad |
autosomal dominant |
ATP1A3 |
https://ghr.nlm.nih.gov/gene/ATP1A3 |
DYT12 |
db |
key |
2009-07 |
2017-12-29 |
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快速發作的肌張力障礙帕金森病 |
its prevalence is unknown. It has been diagnosed in individuals and families |
refers to the abrupt appearance of signs and symptoms over a period of hours to |
RDP |
GTR |
C1868681 |
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from the United States, Europe, and Korea. |
days. Dystonia is a condition characterized by involuntary, sustained muscle |
RODP |
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contractions. Parkinsonism can include tremors, unusually slow movement |
GeneReviews |
rapid-odp |
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(bradykinesia), rigidity, an inability to hold the body upright and balanced |
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(postural instability), and a shuffling walk that can cause recurrent falls. |
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MeSH |
D020821 |
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html:p |
Rapid-onset dystonia parkinsonism causes movement abnormalities that can make it |
db |
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difficult to walk, talk, and carry out other activities of daily life. In this |
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OMIM |
128235 |
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disorder, dystonia affects the arms and legs, causing muscle cramping and |
db |
key |
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spasms. Facial muscles are often affected, resulting in problems with speech and |
Orphanet |
71517 |
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swallowing. The movement abnormalities associated with rapid-onset dystonia |
db |
key |
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parkinsonism tend to begin near the top of the body and move downward, first |
SNOMED CT |
702323008 |
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affecting the facial muscles, then the arms, and finally the legs. |
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html:p |
The signs and symptoms of rapid-onset dystonia parkinsonism most commonly appear |
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in adolescence or young adulthood. In some affected individuals, signs and |
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symptoms can be triggered by an infection, physical stress (such as prolonged |
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exercise), emotional stress, or alcohol consumption. The signs and symptoms tend |
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to stabilize within about a month, but they typically do not improve much after |
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that. In some people with this condition, the movement abnormalities abruptly |
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worsen during a second episode several years later. |
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html:p |
Some people with rapid-onset dystonia parkinsonism have been diagnosed with |
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anxiety, social phobias, depression, and seizures. It is unclear whether these |
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disorders are related to the genetic changes that cause rapid-onset dystonia |
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parkinsonism. |
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related-gene-list |
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Recombinant 8 syndrome |
https://ghr.nlm.nih.gov/condition/recombinant-8-syndrome |
Recombinant 8 syndrome is a rare condition; its exact incidence is unknown. |
html:p |
Recombinant 8 syndrome is a condition that involves heart and urinary tract |
ad |
autosomal dominant |
8 |
https://ghr.nlm.nih.gov/chromosome/8 |
rec(8) syndrome |
db |
key |
2009-04 |
2017-12-29 |
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重組8綜合徵 |
Most people with this condition are descended from a Hispanic population |
abnormalities, moderate to severe intellectual disability, and a distinctive |
recombinant chromosome 8 syndrome |
GTR |
C0795822 |
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originating in the San Luis Valley area of southern Colorado and northern New |
facial appearance. The characteristic facial features include a wide, square |
San Luis Valley syndrome |
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key |
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Mexico. Recombinant 8 syndrome is also called San Luis Valley syndrome. Only a |
face; a thin upper lip; a downturned mouth; a small chin (micrognathia); |
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MeSH |
D025063 |
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few cases outside this population have been found. |
wide-set eyes (hypertelorism); and low-set or unusually shaped ears. People |
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with recombinant 8 syndrome may have overgrowth of the gums (gingival |
OMIM |
179613 |
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hyperplasia) and abnormal tooth development. Males with this condition |
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frequently have undescended testes (cryptorchidism). Some affected individuals |
Orphanet |
96167 |
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have recurrent ear infections (otitis media) or hearing loss. Many children |
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with recombinant 8 syndrome do not survive past early childhood, usually due to |
SNOMED CT |
718189004 |
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complications related to their heart abnormalities. |
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related-gene-list |
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Recurrent hydatidiform mole |
https://ghr.nlm.nih.gov/condition/recurrent-hydatidiform-mole |
Hydatidiform moles occur in 1 in 600 to 1,000 pregnancies in western |
html:p |
Recurrent hydatidiform mole occurs when women have at least two abnormal |
ar |
autosomal recessive |
KHDC3L |
https://ghr.nlm.nih.gov/gene/KHDC3L |
familial biparental hydatidiform mole |
db |
key |
2014-10 |
2017-12-29 |
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復發葡萄胎 |
countries and are more common in developing countries. One to six percent of |
pregnancies described as hydatidiform moles. A hydatidiform mole occurs early in |
related-gene |
gene-symbol |
ghr-page |
familial recurrent hydatidiform mole |
GTR |
C0678213 |
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復發水泡状胎块 |
previously affected women will have a recurrent hydatidiform mole. |
pregnancy when an embryo does not fully develop and the placenta develops |
NLRP7 |
https://ghr.nlm.nih.gov/gene/NLRP7 |
FRHM |
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abnormally. The placenta is a solid structure in the uterus that normally |
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GTR |
C2931618 |
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provides nutrients to a growing fetus. If a hydatidiform mole occurs once, it is |
db |
key |
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known a sporadic hydatidiform mole; if it happens again, the condition is known |
ICD-10-CM |
O01.0 |
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as recurrent hydatidiform mole. |
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html:p |
A hydatidiform mole often causes vaginal bleeding in the first trimester of the |
MeSH |
D006828 |
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pregnancy. In an ultrasound examination, the abnormal placenta appears as |
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numerous small sacs, often described as resembling a bunch of grapes. In some |
OMIM |
231090 |
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cases, the ultrasound shows no fetus, umbilical cord, or amniotic sac (a |
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fluid-filled sac that normally surrounds the fetus). |
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OMIM |
614293 |
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html:p |
Hydatidiform moles are not naturally discharged from the body and must be |
db |
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surgically removed, typically by the end of the first trimester. After removal, |
Orphanet |
99927 |
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there is up to a 20 percent risk that any tissue left behind (persistent mole) |
db |
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will continue to grow and become a cancerous tumor called an invasive mole. The |
SNOMED CT |
237249000 |
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invasive mole can transform into a different form of cancer called gestational |
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choriocarcinoma that can spread (metastasize) to other tissues such as the |
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liver, lungs, or brain. |
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Red-Green Color Vision Defects |
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先天性紅綠色盲基因檢驗 |
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related-gene-list |
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Refsum disease |
https://ghr.nlm.nih.gov/condition/refsum-disease |
The prevalence of Refsum disease is unknown, although the condition is |
html:p |
Refsum disease is an inherited condition that causes vision loss, absence of the |
ar |
autosomal recessive |
PEX7 |
https://ghr.nlm.nih.gov/gene/PEX7 |
adult Refsum disease |
db |
key |
2016-11 |
2017-12-29 |
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雷夫敘姆病 |
thought to be uncommon. |
sense of smell (anosmia), and a variety of other signs and symptoms. |
related-gene |
gene-symbol |
ghr-page |
ARD |
GTR |
C0034960 |
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html:p |
The vision loss associated with Refsum disease is caused by an eye disorder |
PHYH |
https://ghr.nlm.nih.gov/gene/PHYH |
classic Refsum disease |
db |
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called retinitis pigmentosa. This disorder affects the retina, the |
CRD |
GeneReviews |
refsum |
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light-sensitive layer at the back of the eye. Vision loss occurs as the |
hereditary motor and sensory neuropathy Type IV |
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light-sensing cells of the retina gradually deteriorate. The first sign of |
heredopathia atactica polyneuritiformis |
GeneReviews |
rp-overview |
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retinitis pigmentosa is usually a loss of night vision, which often becomes |
HMSN IV |
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apparent in childhood. Over a period of years, the disease disrupts side |
HMSN type IV |
ICD-10-CM |
G60.1 |
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(peripheral) vision and may eventually lead to blindness. |
phytanic acid storage disease |
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html:p |
Vision loss and anosmia are seen in almost everyone with Refsum disease, but |
Refsum syndrome |
MeSH |
D012035 |
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other signs and symptoms vary. About one-third of affected individuals are born |
Refsum's disease |
db |
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with bone abnormalities of the hands and feet. Features that appear later in |
OMIM |
266500 |
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life can include progressive muscle weakness and wasting; poor balance and |
db |
key |
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coordination (ataxia); hearing loss; and dry, scaly skin (ichthyosis). |
|
Orphanet |
773 |
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Additionally, some people with Refsum disease develop an abnormal heart rhythm |
db |
key |
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(arrhythmia) and related heart problems that can be life-threatening. |
SNOMED CT |
25362006 |
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inheritance-pattern-list |
related-gene-list |
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REN-related kidney disease |
https://ghr.nlm.nih.gov/condition/ren-related-kidney-disease |
REN-related kidney disease is a rare condition. At least three families |
html:p |
This condition causes slowly progressive kidney disease |
autosomal dominant |
ghr-page |
Familial juvenile hyperuricemic nephropathy 2 |
db-key |
db |
key |
2010-01 |
2017-12-29 |
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with this condition have been identified. |
that usually becomes apparent during childhood. |
|
https://ghr.nlm.nih.gov/gene/REN |
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GTR |
C2751310 |
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db-key |
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GeneReviews |
hyper-nfj2 |
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-related kidney disease typically require dialysis (to remove wastes from the |
db-key |
db |
key |
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blood) or a kidney transplant between ages 40 and 70. |
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MeSH |
D007674 |
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html:p |
html:i |
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db-key |
db |
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REN |
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OMIM |
613092 |
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-related kidney disease develop a shortage of red blood cells (anemia), which |
db-key |
db |
key |
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can cause pale skin, weakness, and fatigue. In this disorder, anemia is usually |
|
SNOMED CT |
46785007 |
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mild and begins to improve during adolescence. |
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html:p |
Many individuals with this condition develop high blood levels of a waste |
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product called uric acid. Normally, the kidneys remove uric acid from the blood |
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html:i |
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REN |
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-related kidney disease may begin to experience the signs and symptoms of gout |
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during their twenties. |
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related-gene-list |
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Renal coloboma syndrome |
https://ghr.nlm.nih.gov/condition/renal-coloboma-syndrome |
The prevalence of renal coloboma syndrome is unknown; at least 60 cases |
html:p |
Renal coloboma syndrome (also known as papillorenal syndrome) is a condition |
ad |
autosomal dominant |
PAX2 |
https://ghr.nlm.nih.gov/gene/PAX2 |
coloboma of optic nerve with renal disease |
db |
key |
2008-07 |
2017-12-29 |
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have been reported in the scientific literature. |
that primarily affects kidney (renal) and eye development. People with this |
coloboma-ureteral-renal syndrome |
GTR |
C1852759 |
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condition typically have kidneys that are small and underdeveloped |
ONCR |
db |
key |
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(hypoplastic), which can lead to end-stage renal disease (ESRD). This serious |
optic coloboma, vesicoureteral reflux, and renal anomalies |
GeneReviews |
papr |
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disease occurs when the kidneys are no longer able to filter fluids and waste |
optic nerve coloboma renal syndrome |
db |
key |
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products from the body effectively. It has been estimated that approximately |
papillorenal syndrome |
MeSH |
D003103 |
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ten percent of children with hypoplastic kidneys may have renal coloboma |
RCS |
db |
key |
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syndrome. The kidney problems can affect one or both kidneys. |
renal-coloboma syndrome |
MeSH |
D007674 |
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html:p |
Additionally, people with renal coloboma syndrome may have a malformation in the |
db |
key |
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optic nerve, a structure that carries information from the eye to the brain. |
|
OMIM |
120330 |
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Optic nerve malformations are sometimes associated with a gap or hole (coloboma) |
db |
key |
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in the light-sensitive tissue at the back of the eye (the retina). The vision |
Orphanet |
1475 |
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problems caused by these abnormalities can vary depending on the size and |
db |
key |
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location of the malformation. Some people have no visual problems, while others |
SNOMED CT |
446449009 |
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may have severely impaired vision. |
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html:p |
Less common features of renal coloboma syndrome include backflow of urine from |
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the bladder (vesicoureteral reflux), multiple kidney cysts, loose joints, and |
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mild hearing loss. |
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related-gene-list |
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Renal hypouricemia |
https://ghr.nlm.nih.gov/condition/renal-hypouricemia |
The prevalence of renal hypouricemia is unknown; at least 150 affected |
html:p |
Renal hypouricemia is a kidney (renal) disorder that results in a reduced amount |
ar |
autosomal recessive |
SLC2A9 |
https://ghr.nlm.nih.gov/gene/SLC2A9 |
familial renal hypouricaemia |
db |
key |
2015-01 |
2017-12-29 |
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腎性低血糖症 |
individuals have been described in the scientific literature. This condition is |
of uric acid in the blood. Uric acid is a byproduct of certain normal chemical |
related-gene |
gene-symbol |
ghr-page |
familial renal hypouricemia |
GTR |
C0473219 |
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thought to be most prevalent in Asian countries such as Japan and South Korea, |
reactions in the body. In the bloodstream it acts as an antioxidant, protecting |
SLC22A12 |
https://ghr.nlm.nih.gov/gene/SLC22A12 |
hereditary renal hypouricemia |
db |
key |
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although affected individuals have been found in Europe. Renal hypouricemia is |
cells from the damaging effects of unstable molecules called free radicals. |
RHUC |
GTR |
C2677549 |
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likely underdiagnosed because it does not cause any symptoms in many affected |
However, having too much uric acid in the body is toxic, so excess uric acid is |
db |
key |
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individuals. |
removed from the body in urine. |
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MeSH |
D015499 |
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html:p |
People with renal hypouricemia have little to no uric acid in their blood; they |
db |
key |
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release an excessive amount of it in the urine. In many affected individuals, |
OMIM |
220150 |
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renal hypouricemia causes no signs or symptoms. However, some people with this |
db |
key |
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condition develop kidney problems. After strenuous exercise, they can develop |
OMIM |
612076 |
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exercise-induced acute kidney injury, which causes pain in their sides and lower |
db |
key |
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back as well as nausea and vomiting that can last several hours. |
|
Orphanet |
94088 |
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html:p |
Because an excessive amount of uric acid passes through the kidneys to be |
db |
key |
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excreted in urine in people with renal hypouricemia, they have an increased risk |
SNOMED CT |
236478009 |
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of developing kidney stones (nephrolithiasis) formed from uric acid crystals. |
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These uric acid stones can damage the kidneys and lead to episodes of blood in |
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the urine (hematuria). Rarely, people with renal hypouricemia develop |
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life-threatening kidney failure. |
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related-gene-list |
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Renal tubular acidosis with deafness |
https://ghr.nlm.nih.gov/condition/renal-tubular-acidosis-with-deafness |
Renal tubular acidosis with deafness is a rare disorder; its prevalence is |
html:p |
Renal tubular acidosis with deafness is a disorder characterized by kidney |
ar |
autosomal recessive |
ATP6V0A4 |
https://ghr.nlm.nih.gov/gene/ATP6V0A4 |
AR dRTA with deafness |
db |
key |
2014-03 |
2017-12-29 |
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unknown. |
(renal) problems and hearing loss. The kidneys normally filter fluid and waste |
related-gene |
gene-symbol |
ghr-page |
AR dRTA with hearing loss |
GTR |
C0403554 |
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products from the body and remove them in urine; however, in people with this |
ATP6V1B1 |
https://ghr.nlm.nih.gov/gene/ATP6V1B1 |
autosomal recessive distal renal tubular acidosis with deafness |
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key |
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disorder, the kidneys do not remove enough acidic compounds from the body. |
renal tubular acidosis type 1b |
MeSH |
D000141 |
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Instead, the acids are absorbed back into the bloodstream, and the blood becomes |
renal tubular acidosis with progressive nerve deafness |
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key |
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too acidic. This chemical imbalance, called metabolic acidosis, can result in a |
renal tubular acidosis, autosomal recessive, with progressive nerve deafness |
OMIM |
267300 |
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range of signs and symptoms that vary in severity. Metabolic acidosis often |
renal tubular acidosis, distal, with progressive nerve deafness |
db |
key |
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causes nausea, vomiting, and dehydration; affected infants tend to have problems |
RTA with progressive nerve deafness |
Orphanet |
93611 |
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feeding and gaining weight (failure to thrive). Most children and adults with |
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renal tubular acidosis with deafness have short stature, and many develop kidney |
SNOMED CT |
236532003 |
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stones. |
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html:p |
The metabolic acidosis that occurs in renal tubular acidosis with deafness may |
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also lead to softening and weakening of the bones, called rickets in children |
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and osteomalacia in adults. This bone disorder is characterized by bone pain, |
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bowed legs, and difficulty walking. Rarely, people with renal tubular acidosis |
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with deafness have episodes of hypokalemic paralysis, a condition that causes |
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extreme muscle weakness associated with low levels of potassium in the blood |
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(hypokalemia). |
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html:p |
In people with renal tubular acidosis with deafness, hearing loss caused by |
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changes in the inner ear (sensorineural hearing loss) usually begins between |
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childhood and young adulthood, and gradually gets worse. An inner ear |
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abnormality affecting both ears occurs in most people with this disorder. This |
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feature, which is called enlarged vestibular aqueduct, can be seen with medical |
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imaging. The vestibular aqueduct is a bony canal that runs from the inner ear |
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into the temporal bone of the skull and toward the brain. The relationship |
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between enlarged vestibular aqueduct and hearing loss is unclear. In renal |
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tubular acidosis with deafness, enlarged vestibular aqueduct typically occurs in |
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individuals whose hearing loss begins in childhood. |
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related-gene-list |
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Renal tubular dysgenesis |
https://ghr.nlm.nih.gov/condition/renal-tubular-dysgenesis |
Renal tubular dysgenesis is a rare disorder, but its prevalence is unknown. |
html:p |
Renal tubular dysgenesis is a severe kidney disorder characterized by abnormal |
ar |
autosomal recessive |
ACE |
https://ghr.nlm.nih.gov/gene/ACE |
Allanson Pantzar McLeod syndrome |
db |
key |
2013-05 |
2017-12-29 |
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腎小管發育不全症 |
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development of the kidneys before birth. In particular, kidney structures called |
related-gene |
gene-symbol |
ghr-page |
primitive renal tubule syndrome |
GTR |
C0266313 |
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proximal tubules are absent or underdeveloped. These structures help to |
AGT |
https://ghr.nlm.nih.gov/gene/AGT |
db |
key |
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reabsorb needed nutrients, water, and other materials into the blood and excrete |
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D007674 |
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everything else into the urine. Without functional proximal tubules, the |
AGTR1 |
https://ghr.nlm.nih.gov/gene/AGTR1 |
db |
key |
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kidneys cannot produce urine (a condition called anuria). |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
267430 |
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html:p |
Fetal urine is the major component of the fluid that surrounds the fetus |
REN |
https://ghr.nlm.nih.gov/gene/REN |
db |
key |
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(amniotic fluid), and anuria leads to decreased amniotic fluid levels |
|
Orphanet |
3033 |
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(oligohydramnios). Amniotic fluid helps cushion and protect the fetus and plays |
db |
key |
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a role in the development of many organs, including the lungs. Oligohydramnios |
SNOMED CT |
702397002 |
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causes a set of abnormalities called the Potter sequence, which includes |
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distinctive facial features such as a flattened nose and large, low-set ears; |
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excess skin; inward- and upward-turning feet (clubfeet); and underdeveloped |
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lungs. |
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html:p |
Renal tubular dysgenesis also causes severe low blood pressure (hypotension). In |
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addition, bone development in the skull is abnormal in some affected |
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individuals, causing a large space between the bones of the skull (fontanelles). |
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html:p |
As a result of the serious health problems caused by renal tubular dysgenesis, |
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affected individuals usually die before birth, are stillborn, or die soon after |
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birth from respiratory failure. Rarely, with treatment, affected individuals |
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survive into childhood. Their blood pressure usually normalizes, but they |
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quickly develop chronic kidney disease, which is characterized by reduced kidney |
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function that worsens over time. |
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related-gene-list |
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Renpenning syndrome |
https://ghr.nlm.nih.gov/condition/renpenning-syndrome |
Renpenning syndrome is a rare disorder; its prevalence is unknown. More |
html:p |
Renpenning syndrome is a disorder that almost exclusively affects males, causing |
PQBP1 |
https://ghr.nlm.nih.gov/gene/PQBP1 |
Golabi-Ito-Hall syndrome |
db |
key |
2012-06 |
2017-12-29 |
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任贲宁综合征 |
than 60 affected individuals in at least 15 families have been identified. |
developmental delay, moderate to severe intellectual disability, and |
Hamel cerebropalatocardiac syndrome |
GTR |
C0796135 |
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distinctive physical features. Individuals with Renpenning syndrome typically |
Porteous syndrome |
db |
key |
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have short stature and a small head size (microcephaly). Facial features |
Sutherland-Haan syndrome |
MeSH |
D038901 |
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characteristic of this disorder include a long, narrow face; outside corners of |
X-linked intellectual deficit due to PQBP1 mutations |
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the eyes that point upward (upslanting palpebral fissures); a long, bulbous nose |
X-linked intellectual deficit, Renpenning type |
OMIM |
309500 |
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with a low-hanging separation between the nostrils (overhanging columella); a |
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shortened space between the nose and mouth (philtrum); and cup-shaped ears. |
Orphanet |
3242 |
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Males with Renpenning syndrome generally have small testes. Seizures and wasting |
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away (atrophy) of muscles used for movement (skeletal muscles) may also occur |
SNOMED CT |
699669001 |
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in this disorder. |
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html:p |
About 20 percent of individuals with Renpenning syndrome also have other |
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features, which may include a gap or split in structures that make up the eye |
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(coloboma), an opening in the roof of the mouth (cleft palate), heart |
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abnormalities, or malformations of the anus. |
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html:p |
Certain combinations of the features that often occur in Renpenning syndrome are |
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sometimes called by other names, such as Golabi-Ito-Hall syndrome or |
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Sutherland-Haan syndrome. However, all these syndromes, which have the same |
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genetic cause, are now generally grouped under the term Renpenning syndrome. |
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related-gene-list |
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Restless legs syndrome |
https://ghr.nlm.nih.gov/condition/restless-legs-syndrome |
Restless legs syndrome is one of the most common sleep and movement |
html:p |
Restless legs syndrome is a neurological condition that causes an irresistible |
ad |
autosomal dominant |
BTBD9 |
https://ghr.nlm.nih.gov/gene/BTBD9 |
Ekbom syndrome |
db |
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2013-10 |
2017-12-29 |
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不寧腿綜合症 |
disorders. It affects an estimated 5 to 10 percent of adults and 2 to 4 percent |
urge to move the legs. The movement is triggered by strange or uncomfortable |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Ekbom's syndrome |
GTR |
C1837285 |
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不安腿综合征 |
of children in the United States. For unknown reasons, the disorder affects |
feelings, often described as crawling, pulling, or itching, deep within both |
u |
pattern unknown |
MAP2K5 |
https://ghr.nlm.nih.gov/gene/MAP2K5 |
restless leg syndrome |
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women more often than men. The prevalence of restless legs syndrome increases |
legs. The feelings usually occur while the affected person is sitting or lying |
related-gene |
gene-symbol |
ghr-page |
RLS |
GTR |
C1864874 |
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with age. |
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down and are worse at night. Movement, such as kicking, stretching, rubbing, or |
MEIS1 |
https://ghr.nlm.nih.gov/gene/MEIS1 |
WED |
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pacing, make the discomfort go away, at least temporarily. The unpleasant |
related-gene |
gene-symbol |
ghr-page |
Willis-Ekbom disease |
GTR |
C1864875 |
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feelings and the resulting need to move the legs often make it difficult for an |
PTPRD |
https://ghr.nlm.nih.gov/gene/PTPRD |
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affected person to fall asleep or stay asleep. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1876177 |
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html:p |
The signs and symptoms of restless legs syndrome range from mild to severe; |
SKOR1 |
https://ghr.nlm.nih.gov/gene/SKOR1 |
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people with mild cases may experience symptoms a few times a month, while those |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1970010 |
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with more severe cases may have symptoms every night. In severe cases, the |
TOX3 |
https://ghr.nlm.nih.gov/gene/TOX3 |
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uncomfortable feelings can affect the arms or other parts of the body in |
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GTR |
C1970020 |
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addition to the legs. |
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html:p |
Many people with restless legs syndrome also experience uncontrollable, |
GTR |
C2748506 |
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repetitive leg movements that occur while they are sleeping or while relaxed or |
db |
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drowsy. When these movements occur during sleep, they are called periodic limb |
GTR |
C3554664 |
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movements of sleep (PLMS); when they occur while a person is awake, they are |
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called periodic limb movements of wakefulness (PLMW). It is unclear whether PLMS |
ICD-10-CM |
G25.81 |
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and PLMW are features of restless legs syndrome itself or represent similar, |
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but separate, conditions. |
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MeSH |
D012148 |
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html:p |
Restless legs syndrome and PLMS can affect the quality and amount of sleep. As a |
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result of these conditions, affected individuals may have difficulty |
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OMIM |
102300 |
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concentrating during the day, and some develop mood swings, depression, or other |
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health problems. |
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OMIM |
608831 |
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html:p |
Researchers have described early-onset and late-onset forms of restless legs |
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syndrome. The early-onset form begins before age 45, and sometimes as early as |
OMIM |
610438 |
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childhood. The signs and symptoms of this form usually worsen slowly with time. |
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The late-onset form begins after age 45, and its signs and symptoms tend to |
OMIM |
610439 |
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worsen more rapidly. |
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OMIM |
611185 |
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db |
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OMIM |
611242 |
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db |
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OMIM |
612853 |
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db |
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OMIM |
615197 |
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db |
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related-gene-list |
|
SNOMED CT |
32914008 |
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Retinal arterial macroaneurysm with supravalvular pulmonic stenosis |
https://ghr.nlm.nih.gov/condition/retinal-arterial-macroaneurysm-with-supravalvular-pulmonic-stenosis |
RAMSVPS is a rare disorder. Only a small number of affected individuals and |
html:p |
Retinal arterial macroaneurysm with supravalvular pulmonic stenosis (RAMSVPS) is |
ar |
autosomal recessive |
IGFBP7 |
https://ghr.nlm.nih.gov/gene/IGFBP7 |
familial retinal arterial macroaneurysm |
db |
key |
2015-08 |
2017-12-29 |
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視網膜動脈巨大動脈瘤伴瓣膜上肺動脈狹窄 |
families, all from Saudi Arabia, have been described in the medical literature. |
a disorder that affects blood vessels in the eyes and heart. The condition |
FRAM |
GTR |
C3280205 |
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generally becomes apparent in infancy or childhood. |
RAMSVPS |
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html:p |
RAMSVPS damages the arteries in the light-sensitive tissue at the back of the |
ICD-10-CM |
H35.09 |
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eye (the retina). These arteries gradually develop multiple small bulges called |
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beading. Eventually, larger bulges in the blood vessel walls (macroaneurysms) |
MeSH |
D015785 |
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occur. These macroaneurysms can tear (rupture), leading to bleeding that can |
db |
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spread into other areas of the eye and cause vision loss. |
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OMIM |
614224 |
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html:p |
People with RAMSVPS also have a heart condition called supravalvular pulmonic |
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stenosis. Pulmonic stenosis is a narrowing that affects the pulmonic valve |
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between the heart and the lungs. The term "supravalvular" means that the |
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narrowing occurs just above the valve, in a blood vessel called the pulmonary |
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artery. Supravalvular pulmonic stenosis impairs blood flow into the lungs, where |
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blood normally picks up oxygen for distribution to cells and tissues throughout |
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the body. As a result, less oxygen is carried through the bloodstream, leading |
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to signs and symptoms that include shortness of breath; a rapid heartbeat; |
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fatigue; and swelling in the face, feet, or abdomen. |
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related-gene-list |
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Retinitis pigmentosa |
https://ghr.nlm.nih.gov/condition/retinitis-pigmentosa |
Retinitis pigmentosa is one of the most common inherited diseases of the |
html:p |
Retinitis pigmentosa is a group of related eye disorders that cause progressive |
ad |
autosomal dominant |
ABCA4 |
https://ghr.nlm.nih.gov/gene/ABCA4 |
pigmentary retinopathy |
db |
key |
2010-10 |
2017-12-29 |
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色素性視網膜炎 |
retina (retinopathies). It is estimated to affect 1 in 3,500 to 1 in 4,000 |
vision loss. These disorders affect the retina, which is the layer of |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
rod-cone dystrophy |
GTR |
C0035334 |
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people in the United States and Europe. |
light-sensitive tissue at the back of the eye. In people with retinitis |
ar |
autosomal recessive |
BEST1 |
https://ghr.nlm.nih.gov/gene/BEST1 |
RP |
db |
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pigmentosa, vision loss occurs as the light-sensing cells of the retina |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
tapetoretinal degeneration |
GeneReviews |
rp-overview |
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gradually deteriorate. |
xr |
X-linked recessive |
C2orf71 |
https://ghr.nlm.nih.gov/gene/C2orf71 |
db |
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html:p |
The first sign of retinitis pigmentosa is usually a loss of night vision, which |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
H35.52 |
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becomes apparent in childhood. Problems with night vision can make it difficult |
CA4 |
https://ghr.nlm.nih.gov/gene/CA4 |
db |
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to navigate in low light. Later, the disease causes blind spots to develop in |
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D012174 |
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the side (peripheral) vision. Over time, these blind spots merge to produce |
CERKL |
https://ghr.nlm.nih.gov/gene/CERKL |
db |
key |
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tunnel vision. The disease progresses over years or decades to affect central |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
268000 |
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vision, which is needed for detailed tasks such as reading, driving, and |
CLRN1 |
https://ghr.nlm.nih.gov/gene/CLRN1 |
db |
key |
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recognizing faces. In adulthood, many people with retinitis pigmentosa become |
related-gene |
gene-symbol |
ghr-page |
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Orphanet |
791 |
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legally blind. |
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CNGA1 |
https://ghr.nlm.nih.gov/gene/CNGA1 |
db |
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html:p |
The signs and symptoms of retinitis pigmentosa are most often limited to vision |
related-gene |
gene-symbol |
ghr-page |
|
SNOMED CT |
28835009 |
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loss. When the disorder occurs by itself, it is described as nonsyndromic. |
CNGB1 |
https://ghr.nlm.nih.gov/gene/CNGB1 |
db |
key |
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Researchers have identified several major types of nonsyndromic retinitis |
related-gene |
gene-symbol |
ghr-page |
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SNOMED CT |
80328002 |
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pigmentosa, which are usually distinguished by their pattern of inheritance: |
CRB1 |
https://ghr.nlm.nih.gov/gene/CRB1 |
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autosomal dominant, autosomal recessive, or X-linked. |
related-gene |
gene-symbol |
ghr-page |
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html:p |
Less commonly, retinitis pigmentosa occurs as part of syndromes that affect |
CRX |
https://ghr.nlm.nih.gov/gene/CRX |
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other organs and tissues in the body. These forms of the disease are described |
related-gene |
gene-symbol |
ghr-page |
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as syndromic. The most common form of syndromic retinitis pigmentosa is Usher |
EYS |
https://ghr.nlm.nih.gov/gene/EYS |
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syndrome, which is characterized by the combination of vision loss and hearing |
related-gene |
gene-symbol |
ghr-page |
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loss beginning early in life. Retinitis pigmentosa is also a feature of several |
FAM161A |
https://ghr.nlm.nih.gov/gene/FAM161A |
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other genetic syndromes, including Bardet-Biedl syndrome; Refsum disease; and |
related-gene |
gene-symbol |
ghr-page |
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neuropathy, ataxia, and retinitis pigmentosa (NARP). |
FSCN2 |
https://ghr.nlm.nih.gov/gene/FSCN2 |
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related-gene |
gene-symbol |
ghr-page |
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GUCA1B |
https://ghr.nlm.nih.gov/gene/GUCA1B |
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related-gene |
gene-symbol |
ghr-page |
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IDH3B |
https://ghr.nlm.nih.gov/gene/IDH3B |
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related-gene |
gene-symbol |
ghr-page |
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IMPDH1 |
https://ghr.nlm.nih.gov/gene/IMPDH1 |
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related-gene |
gene-symbol |
ghr-page |
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IMPG2 |
https://ghr.nlm.nih.gov/gene/IMPG2 |
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related-gene |
gene-symbol |
ghr-page |
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KLHL7 |
https://ghr.nlm.nih.gov/gene/KLHL7 |
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related-gene |
gene-symbol |
ghr-page |
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LRAT |
https://ghr.nlm.nih.gov/gene/LRAT |
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related-gene |
gene-symbol |
ghr-page |
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MERTK |
https://ghr.nlm.nih.gov/gene/MERTK |
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|
related-gene |
gene-symbol |
ghr-page |
|
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|
MT-TS2 |
https://ghr.nlm.nih.gov/gene/MT-TS2 |
|
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|
related-gene |
gene-symbol |
ghr-page |
|
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|
|
|
NR2E3 |
https://ghr.nlm.nih.gov/gene/NR2E3 |
|
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|
related-gene |
gene-symbol |
ghr-page |
|
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|
NRL |
https://ghr.nlm.nih.gov/gene/NRL |
|
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|
related-gene |
gene-symbol |
ghr-page |
|
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|
|
|
PDE6A |
https://ghr.nlm.nih.gov/gene/PDE6A |
|
|
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|
related-gene |
gene-symbol |
ghr-page |
|
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|
|
PDE6B |
https://ghr.nlm.nih.gov/gene/PDE6B |
|
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|
related-gene |
gene-symbol |
ghr-page |
|
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|
|
|
|
|
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|
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|
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|
|
|
|
|
|
|
PDE6G |
https://ghr.nlm.nih.gov/gene/PDE6G |
|
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|
|
related-gene |
gene-symbol |
ghr-page |
|
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|
PRCD |
https://ghr.nlm.nih.gov/gene/PRCD |
|
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|
|
related-gene |
gene-symbol |
ghr-page |
|
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|
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|
PROM1 |
https://ghr.nlm.nih.gov/gene/PROM1 |
|
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|
|
related-gene |
gene-symbol |
ghr-page |
|
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|
|
PRPF3 |
https://ghr.nlm.nih.gov/gene/PRPF3 |
|
|
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|
|
related-gene |
gene-symbol |
ghr-page |
|
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|
|
|
PRPF8 |
https://ghr.nlm.nih.gov/gene/PRPF8 |
|
|
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|
|
|
related-gene |
gene-symbol |
ghr-page |
|
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|
|
|
|
|
|
|
PRPF31 |
https://ghr.nlm.nih.gov/gene/PRPF31 |
|
|
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|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
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|
|
|
|
|
|
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|
|
|
|
|
|
|
PRPH2 |
https://ghr.nlm.nih.gov/gene/PRPH2 |
|
|
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|
|
|
|
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|
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|
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|
|
|
related-gene |
gene-symbol |
ghr-page |
|
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|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
RBP3 |
https://ghr.nlm.nih.gov/gene/RBP3 |
|
|
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|
|
|
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|
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|
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|
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|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
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|
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|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
RDH12 |
https://ghr.nlm.nih.gov/gene/RDH12 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
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|
|
|
|
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|
|
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|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
RGR |
https://ghr.nlm.nih.gov/gene/RGR |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
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|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
RHO |
https://ghr.nlm.nih.gov/gene/RHO |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
RLBP1 |
https://ghr.nlm.nih.gov/gene/RLBP1 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
ROM1 |
https://ghr.nlm.nih.gov/gene/ROM1 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
RP1 |
https://ghr.nlm.nih.gov/gene/RP1 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
RP2 |
https://ghr.nlm.nih.gov/gene/RP2 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
RP9 |
https://ghr.nlm.nih.gov/gene/RP9 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
RPE65 |
https://ghr.nlm.nih.gov/gene/RPE65 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
RPGR |
https://ghr.nlm.nih.gov/gene/RPGR |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
SAG |
https://ghr.nlm.nih.gov/gene/SAG |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
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|
|
|
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|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
|
|
|
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|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
SEMA4A |
https://ghr.nlm.nih.gov/gene/SEMA4A |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
SNRNP200 |
https://ghr.nlm.nih.gov/gene/SNRNP200 |
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
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|
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|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
SPATA7 |
https://ghr.nlm.nih.gov/gene/SPATA7 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
TOPORS |
https://ghr.nlm.nih.gov/gene/TOPORS |
|
|
|
|
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|
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related-gene |
gene-symbol |
ghr-page |
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TTC8 |
https://ghr.nlm.nih.gov/gene/TTC8 |
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related-gene |
gene-symbol |
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TULP1 |
https://ghr.nlm.nih.gov/gene/TULP1 |
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related-gene |
gene-symbol |
ghr-page |
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USH2A |
https://ghr.nlm.nih.gov/gene/USH2A |
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related-gene |
gene-symbol |
ghr-page |
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WDR19 |
https://ghr.nlm.nih.gov/gene/WDR19 |
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related-gene |
gene-symbol |
ghr-page |
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ZNF513 |
https://ghr.nlm.nih.gov/gene/ZNF513 |
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related-gene-list |
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Retinoblastoma |
https://ghr.nlm.nih.gov/condition/retinoblastoma |
Retinoblastoma is diagnosed in 250 to 350 children per year in the United |
html:p |
Retinoblastoma is a rare type of eye cancer that usually develops in early |
ad |
autosomal dominant |
MYCN |
https://ghr.nlm.nih.gov/gene/MYCN |
Glioma, retinal |
db |
key |
2017-12 |
2017-12-29 |
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视网膜母细胞瘤 |
States. It accounts for about 4 percent of all cancers in children younger than |
childhood, typically before the age of 5. This form of cancer develops in the |
related-gene |
gene-symbol |
ghr-page |
RB |
GTR |
C0035335 |
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視網膜母細胞瘤 |
15 years. |
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retina, which is the specialized light-sensitive tissue at the back of the eye |
RB1 |
https://ghr.nlm.nih.gov/gene/RB1 |
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that detects light and color. |
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related-chromosome |
name |
ghr-page |
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GeneReviews |
retinoblastoma |
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html:p |
In children with retinoblastoma, the disease often affects only one eye. |
13 |
https://ghr.nlm.nih.gov/chromosome/13 |
db |
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However, one out of three children with retinoblastoma develops cancer in both |
ICD-10-CM |
C69.2 |
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eyes. The most common first sign of retinoblastoma is a visible whiteness in the |
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pupil called "cat's eye reflex" or leukocoria. This unusual whiteness is |
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ICD-10-CM |
C69.20 |
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particularly noticeable in dim light or in photographs taken with a flash. Other |
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signs and symptoms of retinoblastoma include crossed eyes or eyes that do not |
ICD-10-CM |
C69.21 |
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point in the same direction (strabismus), which can cause squinting; a change in |
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the color of the colored part of the eye (iris); redness, soreness, or swelling |
ICD-10-CM |
C69.22 |
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of the eyelids; and blindness or poor vision in the affected eye or eyes. |
db |
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html:p |
Retinoblastoma is often curable when it is diagnosed early. However, if it is |
MeSH |
D012175 |
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not treated promptly, this cancer can spread beyond the eye to other parts of |
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the body. This advanced form of retinoblastoma can be life-threatening. |
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OMIM |
180200 |
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html:p |
When retinoblastoma is associated with a genetic change (mutation) that occurs |
db |
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in all of the body's cells, it is known as hereditary (or germinal) |
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Orphanet |
790 |
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retinoblastoma. People with this form of retinoblastoma typically develop cancer |
db |
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in both eyes and also have an increased risk of developing several other |
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SNOMED CT |
370967009 |
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cancers outside the eye. Specifically, they are more likely to develop a cancer |
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of the pineal gland in the brain (pineoblastoma), a type of bone cancer known as |
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osteosarcoma, cancers of soft tissues (such as muscle) called soft tissue |
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sarcomas, and an aggressive form of skin cancer called melanoma. |
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synonym-list |
db-key-list |
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Retroperitoneal fibrosis |
https://ghr.nlm.nih.gov/condition/retroperitoneal-fibrosis |
Retroperitoneal fibrosis occurs in 1 in 200,000 to 500,000 people per year. |
html:p |
Retroperitoneal fibrosis is a disorder in which inflammation and extensive scar |
n |
not inherited |
synonym |
Ormond's disease |
key |
2017-12-29 |
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腹膜後纖維化 |
The disorder occurs approximately twice as often in men as it does in women, |
tissue (fibrosis) occur in the back of the abdominal cavity, behind (retro-) the |
code |
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C0494949 |
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but the reason for this difference is unclear. |
membrane that surrounds the organs of the digestive system (the peritoneum). |
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pattern unknown |
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This area is known as the retroperitoneal space. Retroperitoneal fibrosis can |
db-key |
D012185 |
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occur at any age but appears most frequently between the ages of 40 and 60. |
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html:p |
The inflamed tissue characteristic of retroperitoneal fibrosis typically causes |
db-key |
228800 |
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gradually increasing pain in the lower abdomen, back, or side. Other symptoms |
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arise from blockage of blood flow to and from various parts of the lower body, |
db-key |
49041 |
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due to the development of scar tissue around blood vessels. The fibrosis usually |
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develops first around the aorta, which is the large blood vessel that |
49120005 |
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distributes blood from the heart to the rest of the body. Additional blood |
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vessels including the inferior vena cava, which returns blood from the lower |
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part of the body to the heart, may also be involved. Obstruction of blood flow |
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to and from the legs can result in pain, changes in color, and swelling in these |
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limbs. Impairment of blood flow in the intestines may lead to death (necrosis) |
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of intestinal tissue, severe pain, and excessive bleeding (hemorrhage). In men, |
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reduced blood flow back toward the heart (venous flow) may cause swelling of the |
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scrotum. |
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html:p |
Because the kidneys are located in the retroperitoneal space, retroperitoneal |
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fibrosis may result in blockage of the ureters, which are tubes that carry urine |
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from each kidney to the bladder. Such blockages can lead to decreased or absent |
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urine flow and kidney failure. When the kidneys fail, toxic substances build up |
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in the blood and tissues, leading to nausea, vomiting, weight loss, itching, a |
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low number of red blood cells (anemia), and changes in brain function. |
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related-gene-list |
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Rett syndrome |
https://ghr.nlm.nih.gov/condition/rett-syndrome |
This condition affects an estimated 1 in 8,500 females. |
html:p |
Rett syndrome is a brain disorder that occurs almost exclusively in girls. The |
xd |
X-linked dominant |
MECP2 |
https://ghr.nlm.nih.gov/gene/MECP2 |
autism-dementia-ataxia-loss of purposeful hand use syndrome |
db |
key |
2013-12 |
2017-12-29 |
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蕾特氏症 |
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most common form of the condition is known as classic Rett syndrome. After |
Rett disorder |
GTR |
C0035372 |
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birth, girls with classic Rett syndrome have 6 to 18 months of apparently normal |
Rett's disorder |
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development before developing severe problems with language and communication, |
Rett's syndrome |
GeneReviews |
rett |
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learning, coordination, and other brain functions. Early in childhood, affected |
RTS |
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girls lose purposeful use of their hands and begin making repeated hand |
RTT |
ICD-10-CM |
F84.2 |
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wringing, washing, or clapping motions. They tend to grow more slowly than other |
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children and have a small head size (microcephaly). Other signs and symptoms |
MeSH |
D015518 |
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that can develop include breathing abnormalities, seizures, an abnormal |
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side-to-side curvature of the spine (scoliosis), and sleep disturbances. |
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OMIM |
312750 |
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html:p |
Researchers have described several variant or atypical forms of Rett syndrome, |
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which can be milder or more severe than the classic form. |
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Orphanet |
778 |
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Reye Syndrome |
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related-gene-list |
|
SNOMED CT |
68618008 |
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Rheumatoid arthritis |
https://ghr.nlm.nih.gov/condition/rheumatoid-arthritis |
Rheumatoid arthritis affects about 1.3 million adults in the United States. |
html:p |
Rheumatoid arthritis is a disease that causes chronic abnormal inflammation, |
u |
pattern unknown |
AFF3 |
https://ghr.nlm.nih.gov/gene/AFF3 |
arthritis, rheumatoid |
db |
key |
2013-09 |
2017-12-29 |
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類風濕性關節炎 |
Worldwide, it is estimated to occur in up to 1 percent of the population. The |
primarily affecting the joints. The most common signs and symptoms are pain, |
related-gene |
gene-symbol |
ghr-page |
RA |
GTR |
C0003873 |
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disease is two to three times more common in women than in men, which may be |
swelling, and stiffness of the joints. Small joints in the hands and feet are |
ARID5B |
https://ghr.nlm.nih.gov/gene/ARID5B |
db |
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related to hormonal factors. |
involved most often, although larger joints (such as the shoulders, hips, and |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M05 |
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knees) may become involved later in the disease. Joints are typically affected |
BLK |
https://ghr.nlm.nih.gov/gene/BLK |
db |
key |
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in a symmetrical pattern; for example, if joints in the hand are affected, both |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M05.0 |
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hands tend to be involved. People with rheumatoid arthritis often report that |
C5 |
https://ghr.nlm.nih.gov/gene/C5 |
db |
key |
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their joint pain and stiffness is worse when getting out of bed in the morning |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M05.00 |
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or after a long rest. |
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CCL21 |
https://ghr.nlm.nih.gov/gene/CCL21 |
db |
key |
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html:p |
Rheumatoid arthritis can also cause inflammation of other tissues and organs, |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M05.01 |
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including the eyes, lungs, and blood vessels. Additional signs and symptoms of |
CCR6 |
https://ghr.nlm.nih.gov/gene/CCR6 |
db |
key |
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the condition can include a loss of energy, a low fever, weight loss, and a |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M05.1 |
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shortage of red blood cells (anemia). Some affected individuals develop |
CD2 |
https://ghr.nlm.nih.gov/gene/CD2 |
db |
key |
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rheumatoid nodules, which are firm lumps of noncancerous tissue that can grow |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M05.02 |
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under the skin and elsewhere in the body. |
CD5 |
https://ghr.nlm.nih.gov/gene/CD5 |
db |
key |
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html:p |
The signs and symptoms of rheumatoid arthritis usually appear in mid- to late |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M05.2 |
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adulthood. Many affected people have episodes of symptoms (flares) followed by |
CD28 |
https://ghr.nlm.nih.gov/gene/CD28 |
db |
key |
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periods with no symptoms (remissions) for the rest of their lives. In severe |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M05.03 |
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cases, affected individuals have continuous health problems related to the |
CD40 |
https://ghr.nlm.nih.gov/gene/CD40 |
db |
key |
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disease for many years. The abnormal inflammation can lead to severe joint |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M05.3 |
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damage, which limits movement and can cause significant disability. |
CD58 |
https://ghr.nlm.nih.gov/gene/CD58 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M05.04 |
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CTLA4 |
https://ghr.nlm.nih.gov/gene/CTLA4 |
db |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M05.4 |
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FCGR2A |
https://ghr.nlm.nih.gov/gene/FCGR2A |
db |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M05.05 |
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FCGR2B |
https://ghr.nlm.nih.gov/gene/FCGR2B |
db |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M05.5 |
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GATA3 |
https://ghr.nlm.nih.gov/gene/GATA3 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M05.06 |
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HLA-B |
https://ghr.nlm.nih.gov/gene/HLA-B |
db |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M05.6 |
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HLA-DPB1 |
https://ghr.nlm.nih.gov/gene/HLA-DPB1 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
M05.07 |
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HLA-DRB1 |
https://ghr.nlm.nih.gov/gene/HLA-DRB1 |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.7 |
|
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|
IKZF3 |
https://ghr.nlm.nih.gov/gene/IKZF3 |
db |
key |
|
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|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.8 |
|
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|
IL2 |
https://ghr.nlm.nih.gov/gene/IL2 |
db |
key |
|
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|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.09 |
|
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|
IL2RA |
https://ghr.nlm.nih.gov/gene/IL2RA |
db |
key |
|
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|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.9 |
|
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|
IL2RB |
https://ghr.nlm.nih.gov/gene/IL2RB |
db |
key |
|
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|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.10 |
|
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|
IL6R |
https://ghr.nlm.nih.gov/gene/IL6R |
db |
key |
|
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|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.011 |
|
|
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|
|
|
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|
IL6ST |
https://ghr.nlm.nih.gov/gene/IL6ST |
db |
key |
|
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|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.11 |
|
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|
IL21 |
https://ghr.nlm.nih.gov/gene/IL21 |
db |
key |
|
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|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.012 |
|
|
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|
|
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|
IRAK1 |
https://ghr.nlm.nih.gov/gene/IRAK1 |
db |
key |
|
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|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.12 |
|
|
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|
IRF5 |
https://ghr.nlm.nih.gov/gene/IRF5 |
db |
key |
|
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|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.13 |
|
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|
IRF8 |
https://ghr.nlm.nih.gov/gene/IRF8 |
db |
key |
|
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|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.14 |
|
|
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|
|
KIF5A |
https://ghr.nlm.nih.gov/gene/KIF5A |
db |
key |
|
|
|
|
|
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|
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|
|
|
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|
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|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.15 |
|
|
|
|
|
|
|
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|
|
NFKBIL1 |
https://ghr.nlm.nih.gov/gene/NFKBIL1 |
db |
key |
|
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|
|
|
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|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.16 |
|
|
|
|
|
|
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|
|
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|
|
|
PADI4 |
https://ghr.nlm.nih.gov/gene/PADI4 |
db |
key |
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.17 |
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
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|
|
|
PIP4K2C |
https://ghr.nlm.nih.gov/gene/PIP4K2C |
db |
key |
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.019 |
|
|
|
|
|
|
|
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|
|
|
|
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|
|
|
|
|
|
|
|
|
|
POU3F1 |
https://ghr.nlm.nih.gov/gene/POU3F1 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.19 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
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|
|
|
|
|
|
|
|
|
PRDM1 |
https://ghr.nlm.nih.gov/gene/PRDM1 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.20 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
PRKCQ |
https://ghr.nlm.nih.gov/gene/PRKCQ |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.021 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
PTPN22 |
https://ghr.nlm.nih.gov/gene/PTPN22 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.21 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
PTPRC |
https://ghr.nlm.nih.gov/gene/PTPRC |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.022 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
PXK |
https://ghr.nlm.nih.gov/gene/PXK |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.22 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
RASGRP1 |
https://ghr.nlm.nih.gov/gene/RASGRP1 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.23 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
RBPJ |
https://ghr.nlm.nih.gov/gene/RBPJ |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.24 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
RCAN1 |
https://ghr.nlm.nih.gov/gene/RCAN1 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.25 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
REL |
https://ghr.nlm.nih.gov/gene/REL |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.26 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
RUNX1 |
https://ghr.nlm.nih.gov/gene/RUNX1 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
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|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.27 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
SPRED2 |
https://ghr.nlm.nih.gov/gene/SPRED2 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.029 |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
STAT4 |
https://ghr.nlm.nih.gov/gene/STAT4 |
db |
key |
|
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.29 |
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|
TAGAP |
https://ghr.nlm.nih.gov/gene/TAGAP |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.30 |
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|
TLE3 |
https://ghr.nlm.nih.gov/gene/TLE3 |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.031 |
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|
TNFAIP3 |
https://ghr.nlm.nih.gov/gene/TNFAIP3 |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.31 |
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|
TNFRSF14 |
https://ghr.nlm.nih.gov/gene/TNFRSF14 |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.032 |
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|
TRAF1 |
https://ghr.nlm.nih.gov/gene/TRAF1 |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.32 |
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|
TRAF6 |
https://ghr.nlm.nih.gov/gene/TRAF6 |
db |
key |
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|
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M05.33 |
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TYK2 |
https://ghr.nlm.nih.gov/gene/TYK2 |
db |
key |
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ICD-10-CM |
M05.34 |
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db |
key |
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ICD-10-CM |
M05.35 |
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db |
key |
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ICD-10-CM |
M05.36 |
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db |
key |
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|
ICD-10-CM |
M05.37 |
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db |
key |
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|
ICD-10-CM |
M05.039 |
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db |
key |
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|
ICD-10-CM |
M05.39 |
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db |
key |
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ICD-10-CM |
M05.40 |
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db |
key |
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ICD-10-CM |
M05.041 |
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db |
key |
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|
ICD-10-CM |
M05.41 |
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db |
key |
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|
ICD-10-CM |
M05.042 |
|
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db |
key |
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|
ICD-10-CM |
M05.42 |
|
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db |
key |
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|
ICD-10-CM |
M05.43 |
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db |
key |
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|
ICD-10-CM |
M05.44 |
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db |
key |
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ICD-10-CM |
M05.45 |
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db |
key |
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|
ICD-10-CM |
M05.46 |
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db |
key |
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ICD-10-CM |
M05.47 |
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db |
key |
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ICD-10-CM |
M05.049 |
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db |
key |
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ICD-10-CM |
M05.49 |
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db |
key |
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ICD-10-CM |
M05.50 |
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db |
key |
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ICD-10-CM |
M05.051 |
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db |
key |
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ICD-10-CM |
M05.51 |
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db |
key |
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ICD-10-CM |
M05.052 |
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db |
key |
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ICD-10-CM |
M05.52 |
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db |
key |
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ICD-10-CM |
M05.53 |
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db |
key |
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ICD-10-CM |
M05.54 |
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ICD-10-CM |
M05.55 |
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ICD-10-CM |
M05.56 |
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ICD-10-CM |
M05.57 |
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ICD-10-CM |
M05.059 |
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ICD-10-CM |
M05.59 |
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ICD-10-CM |
M05.60 |
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ICD-10-CM |
M05.061 |
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ICD-10-CM |
M05.61 |
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ICD-10-CM |
M05.062 |
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ICD-10-CM |
M05.62 |
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ICD-10-CM |
M05.63 |
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ICD-10-CM |
M05.64 |
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ICD-10-CM |
M05.65 |
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ICD-10-CM |
M05.66 |
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ICD-10-CM |
M05.67 |
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ICD-10-CM |
M05.069 |
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db |
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ICD-10-CM |
M05.69 |
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db |
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ICD-10-CM |
M05.70 |
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ICD-10-CM |
M05.071 |
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ICD-10-CM |
M05.71 |
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db |
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ICD-10-CM |
M05.072 |
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ICD-10-CM |
M05.72 |
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db |
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ICD-10-CM |
M05.73 |
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db |
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ICD-10-CM |
M05.74 |
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db |
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ICD-10-CM |
M05.75 |
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db |
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ICD-10-CM |
M05.76 |
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db |
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ICD-10-CM |
M05.77 |
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db |
key |
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ICD-10-CM |
M05.079 |
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ICD-10-CM |
M05.79 |
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ICD-10-CM |
M05.80 |
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ICD-10-CM |
M05.81 |
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ICD-10-CM |
M05.82 |
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ICD-10-CM |
M05.83 |
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ICD-10-CM |
M05.84 |
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ICD-10-CM |
M05.85 |
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ICD-10-CM |
M05.86 |
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ICD-10-CM |
M05.87 |
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ICD-10-CM |
M05.89 |
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ICD-10-CM |
M05.111 |
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ICD-10-CM |
M05.112 |
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ICD-10-CM |
M05.119 |
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ICD-10-CM |
M05.121 |
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ICD-10-CM |
M05.122 |
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ICD-10-CM |
M05.129 |
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ICD-10-CM |
M05.131 |
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ICD-10-CM |
M05.132 |
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ICD-10-CM |
M05.139 |
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ICD-10-CM |
M05.141 |
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ICD-10-CM |
M05.142 |
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ICD-10-CM |
M05.149 |
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ICD-10-CM |
M05.151 |
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ICD-10-CM |
M05.152 |
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ICD-10-CM |
M05.159 |
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ICD-10-CM |
M05.161 |
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ICD-10-CM |
M05.162 |
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ICD-10-CM |
M05.169 |
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ICD-10-CM |
M05.171 |
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ICD-10-CM |
M05.172 |
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ICD-10-CM |
M05.179 |
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ICD-10-CM |
M05.211 |
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ICD-10-CM |
M05.212 |
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ICD-10-CM |
M05.219 |
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ICD-10-CM |
M05.221 |
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ICD-10-CM |
M05.222 |
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ICD-10-CM |
M05.229 |
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ICD-10-CM |
M05.231 |
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ICD-10-CM |
M05.232 |
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ICD-10-CM |
M05.239 |
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ICD-10-CM |
M05.241 |
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ICD-10-CM |
M05.242 |
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ICD-10-CM |
M05.249 |
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ICD-10-CM |
M05.251 |
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ICD-10-CM |
M05.252 |
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ICD-10-CM |
M05.259 |
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ICD-10-CM |
M05.261 |
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ICD-10-CM |
M05.262 |
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ICD-10-CM |
M05.269 |
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ICD-10-CM |
M05.271 |
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ICD-10-CM |
M05.272 |
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ICD-10-CM |
M05.279 |
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ICD-10-CM |
M05.311 |
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ICD-10-CM |
M05.312 |
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ICD-10-CM |
M05.319 |
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ICD-10-CM |
M05.321 |
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ICD-10-CM |
M05.322 |
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ICD-10-CM |
M05.329 |
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ICD-10-CM |
M05.331 |
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ICD-10-CM |
M05.332 |
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ICD-10-CM |
M05.339 |
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ICD-10-CM |
M05.341 |
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ICD-10-CM |
M05.342 |
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ICD-10-CM |
M05.349 |
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ICD-10-CM |
M05.351 |
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ICD-10-CM |
M05.352 |
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ICD-10-CM |
M05.359 |
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ICD-10-CM |
M05.361 |
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ICD-10-CM |
M05.362 |
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ICD-10-CM |
M05.369 |
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ICD-10-CM |
M05.371 |
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ICD-10-CM |
M05.372 |
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ICD-10-CM |
M05.379 |
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ICD-10-CM |
M05.411 |
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ICD-10-CM |
M05.412 |
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ICD-10-CM |
M05.419 |
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ICD-10-CM |
M05.421 |
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ICD-10-CM |
M05.422 |
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ICD-10-CM |
M05.429 |
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ICD-10-CM |
M05.431 |
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ICD-10-CM |
M05.432 |
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ICD-10-CM |
M05.439 |
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ICD-10-CM |
M05.441 |
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ICD-10-CM |
M05.442 |
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ICD-10-CM |
M05.449 |
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ICD-10-CM |
M05.451 |
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ICD-10-CM |
M05.452 |
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ICD-10-CM |
M05.459 |
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ICD-10-CM |
M05.461 |
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ICD-10-CM |
M05.462 |
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ICD-10-CM |
M05.469 |
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ICD-10-CM |
M05.471 |
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ICD-10-CM |
M05.472 |
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ICD-10-CM |
M05.479 |
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ICD-10-CM |
M05.511 |
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ICD-10-CM |
M05.512 |
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ICD-10-CM |
M05.519 |
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ICD-10-CM |
M05.521 |
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ICD-10-CM |
M05.522 |
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ICD-10-CM |
M05.529 |
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ICD-10-CM |
M05.531 |
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ICD-10-CM |
M05.532 |
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ICD-10-CM |
M05.539 |
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ICD-10-CM |
M05.541 |
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ICD-10-CM |
M05.542 |
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ICD-10-CM |
M05.549 |
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ICD-10-CM |
M05.551 |
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ICD-10-CM |
M05.552 |
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ICD-10-CM |
M05.559 |
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ICD-10-CM |
M05.561 |
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ICD-10-CM |
M05.562 |
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ICD-10-CM |
M05.569 |
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ICD-10-CM |
M05.571 |
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ICD-10-CM |
M05.572 |
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ICD-10-CM |
M05.579 |
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ICD-10-CM |
M05.611 |
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ICD-10-CM |
M05.612 |
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ICD-10-CM |
M05.619 |
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db |
key |
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ICD-10-CM |
M05.621 |
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ICD-10-CM |
M05.622 |
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ICD-10-CM |
M05.629 |
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ICD-10-CM |
M05.631 |
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ICD-10-CM |
M05.632 |
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ICD-10-CM |
M05.639 |
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ICD-10-CM |
M05.641 |
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ICD-10-CM |
M05.642 |
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ICD-10-CM |
M05.649 |
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ICD-10-CM |
M05.651 |
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ICD-10-CM |
M05.652 |
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ICD-10-CM |
M05.659 |
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ICD-10-CM |
M05.661 |
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ICD-10-CM |
M05.662 |
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ICD-10-CM |
M05.669 |
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ICD-10-CM |
M05.671 |
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ICD-10-CM |
M05.672 |
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ICD-10-CM |
M05.679 |
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ICD-10-CM |
M05.711 |
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ICD-10-CM |
M05.712 |
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ICD-10-CM |
M05.719 |
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ICD-10-CM |
M05.721 |
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ICD-10-CM |
M05.722 |
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ICD-10-CM |
M05.729 |
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ICD-10-CM |
M05.731 |
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ICD-10-CM |
M05.732 |
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ICD-10-CM |
M05.739 |
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ICD-10-CM |
M05.741 |
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ICD-10-CM |
M05.742 |
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ICD-10-CM |
M05.749 |
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db |
key |
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ICD-10-CM |
M05.751 |
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ICD-10-CM |
M05.752 |
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ICD-10-CM |
M05.759 |
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ICD-10-CM |
M05.761 |
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ICD-10-CM |
M05.762 |
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ICD-10-CM |
M05.769 |
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ICD-10-CM |
M05.771 |
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ICD-10-CM |
M05.772 |
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ICD-10-CM |
M05.779 |
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ICD-10-CM |
M05.811 |
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ICD-10-CM |
M05.812 |
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ICD-10-CM |
M05.819 |
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ICD-10-CM |
M05.821 |
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ICD-10-CM |
M05.822 |
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ICD-10-CM |
M05.829 |
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ICD-10-CM |
M05.831 |
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ICD-10-CM |
M05.832 |
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ICD-10-CM |
M05.839 |
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ICD-10-CM |
M05.841 |
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ICD-10-CM |
M05.842 |
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ICD-10-CM |
M05.849 |
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ICD-10-CM |
M05.851 |
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ICD-10-CM |
M05.852 |
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ICD-10-CM |
M05.859 |
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ICD-10-CM |
M05.861 |
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ICD-10-CM |
M05.862 |
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ICD-10-CM |
M05.869 |
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ICD-10-CM |
M05.871 |
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ICD-10-CM |
M05.872 |
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ICD-10-CM |
M05.879 |
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ICD-10-CM |
M06 |
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ICD-10-CM |
M06.0 |
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ICD-10-CM |
M06.00 |
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ICD-10-CM |
M06.01 |
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ICD-10-CM |
M06.02 |
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ICD-10-CM |
M06.03 |
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ICD-10-CM |
M06.04 |
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ICD-10-CM |
M06.05 |
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ICD-10-CM |
M06.06 |
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ICD-10-CM |
M06.07 |
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ICD-10-CM |
M06.08 |
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ICD-10-CM |
M06.8 |
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ICD-10-CM |
M06.09 |
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ICD-10-CM |
M06.9 |
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ICD-10-CM |
M06.011 |
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ICD-10-CM |
M06.012 |
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ICD-10-CM |
M06.019 |
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ICD-10-CM |
M06.021 |
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ICD-10-CM |
M06.022 |
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ICD-10-CM |
M06.029 |
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ICD-10-CM |
M06.031 |
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ICD-10-CM |
M06.032 |
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ICD-10-CM |
M06.039 |
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ICD-10-CM |
M06.041 |
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db |
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ICD-10-CM |
M06.042 |
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db |
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ICD-10-CM |
M06.049 |
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db |
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ICD-10-CM |
M06.051 |
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db |
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ICD-10-CM |
M06.052 |
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db |
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ICD-10-CM |
M06.059 |
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ICD-10-CM |
M06.061 |
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db |
key |
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ICD-10-CM |
M06.062 |
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db |
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ICD-10-CM |
M06.069 |
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db |
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ICD-10-CM |
M06.071 |
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ICD-10-CM |
M06.072 |
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ICD-10-CM |
M06.079 |
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ICD-10-CM |
M06.80 |
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ICD-10-CM |
M06.81 |
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ICD-10-CM |
M06.82 |
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ICD-10-CM |
M06.83 |
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ICD-10-CM |
M06.84 |
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ICD-10-CM |
M06.85 |
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ICD-10-CM |
M06.86 |
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ICD-10-CM |
M06.87 |
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ICD-10-CM |
M06.88 |
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ICD-10-CM |
M06.89 |
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ICD-10-CM |
M06.811 |
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ICD-10-CM |
M06.812 |
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ICD-10-CM |
M06.819 |
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ICD-10-CM |
M06.821 |
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ICD-10-CM |
M06.822 |
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ICD-10-CM |
M06.829 |
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ICD-10-CM |
M06.831 |
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ICD-10-CM |
M06.832 |
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ICD-10-CM |
M06.839 |
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ICD-10-CM |
M06.841 |
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ICD-10-CM |
M06.842 |
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db |
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ICD-10-CM |
M06.849 |
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db |
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ICD-10-CM |
M06.851 |
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ICD-10-CM |
M06.852 |
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db |
key |
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ICD-10-CM |
M06.859 |
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db |
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ICD-10-CM |
M06.861 |
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ICD-10-CM |
M06.862 |
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ICD-10-CM |
M06.869 |
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ICD-10-CM |
M06.871 |
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ICD-10-CM |
M06.872 |
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ICD-10-CM |
M06.879 |
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ICD-10-CM |
M08.0 |
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ICD-10-CM |
M08.00 |
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ICD-10-CM |
M08.01 |
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ICD-10-CM |
M08.02 |
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ICD-10-CM |
M08.03 |
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ICD-10-CM |
M08.04 |
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ICD-10-CM |
M08.05 |
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ICD-10-CM |
M08.06 |
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ICD-10-CM |
M08.07 |
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ICD-10-CM |
M08.08 |
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ICD-10-CM |
M08.09 |
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db |
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ICD-10-CM |
M08.011 |
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db |
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ICD-10-CM |
M08.012 |
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db |
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ICD-10-CM |
M08.019 |
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db |
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ICD-10-CM |
M08.021 |
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db |
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ICD-10-CM |
M08.022 |
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db |
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ICD-10-CM |
M08.029 |
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db |
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ICD-10-CM |
M08.031 |
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db |
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ICD-10-CM |
M08.032 |
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db |
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ICD-10-CM |
M08.039 |
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db |
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ICD-10-CM |
M08.041 |
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db |
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ICD-10-CM |
M08.042 |
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ICD-10-CM |
M08.049 |
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db |
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ICD-10-CM |
M08.051 |
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ICD-10-CM |
M08.052 |
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ICD-10-CM |
M08.059 |
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ICD-10-CM |
M08.061 |
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ICD-10-CM |
M08.062 |
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ICD-10-CM |
M08.069 |
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ICD-10-CM |
M08.071 |
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db |
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ICD-10-CM |
M08.072 |
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db |
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ICD-10-CM |
M08.079 |
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db |
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MeSH |
D001172 |
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db |
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OMIM |
180300 |
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db |
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Orphanet |
284130 |
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db |
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related-gene-list |
|
SNOMED CT |
69896004 |
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Rhizomelic chondrodysplasia punctata |
https://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata |
Rhizomelic chondrodysplasia punctata affects fewer than 1 in 100,000 people |
html:p |
Rhizomelic chondrodysplasia punctata is a condition that impairs the normal |
ar |
autosomal recessive |
AGPS |
https://ghr.nlm.nih.gov/gene/AGPS |
chondrodysplasia punctata, rhizomelic |
db |
key |
2010-07 |
2017-12-29 |
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肢近端型點狀軟骨發育不良 |
worldwide. RCDP1 is more common than RCDP2 or RCDP3. |
development of many parts of the body. The major features of this disorder |
related-gene |
gene-symbol |
ghr-page |
RCDP |
GTR |
C1838612 |
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include skeletal abnormalities, distinctive facial features, intellectual |
GNPAT |
https://ghr.nlm.nih.gov/gene/GNPAT |
RCP |
db |
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disability, and respiratory problems. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1857242 |
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html:p |
Rhizomelic chondrodysplasia punctata is characterized by shortening of the bones |
PEX7 |
https://ghr.nlm.nih.gov/gene/PEX7 |
db |
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in the upper arms and thighs (rhizomelia). Affected individuals also have a |
GTR |
C1859133 |
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specific bone abnormality called chondrodysplasia punctata, which affects the |
db |
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growth of the long bones and can be seen on x-rays. People with rhizomelic |
GeneReviews |
rcdp |
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chondrodysplasia punctata often develop joint deformities (contractures) that |
db |
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make the joints stiff and painful. |
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ICD-10-CM |
E71.540 |
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html:p |
Distinctive facial features are also seen with rhizomelic chondrodysplasia |
db |
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punctata. These include a prominent forehead, widely set eyes (hypertelorism), a |
MeSH |
D018902 |
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sunken appearance of the middle of the face (midface hypoplasia), a small nose |
db |
key |
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with upturned nostrils, and full cheeks. Additionally, almost all affected |
|
OMIM |
215100 |
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individuals have clouding of the lenses of the eyes (cataracts). The cataracts |
db |
key |
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are apparent at birth (congenital) or develop in early infancy. |
|
OMIM |
222765 |
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html:p |
Rhizomelic chondrodysplasia punctata is associated with significantly delayed |
db |
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development and severe intellectual disability. Most children with this |
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OMIM |
600121 |
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condition do not achieve developmental milestones such as sitting without |
db |
key |
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support, feeding themselves, or speaking in phrases. Affected infants grow much |
Orphanet |
177 |
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more slowly than other children their age, and many also have seizures. |
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Recurrent respiratory infections and life-threatening breathing problems are |
SNOMED CT |
56692003 |
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common. Because of their severe health problems, most people with rhizomelic |
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chondrodysplasia punctata survive only into childhood. It is rare for affected |
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children to live past age 10. However, a few individuals with milder features of |
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the condition have lived into early adulthood. |
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html:p |
Researchers have described three types of rhizomelic chondrodysplasia punctata: |
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type 1 (RCDP1), type 2 (RCDP2), and type 3 (RCDP3). The types have similar |
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features and are distinguished by their genetic cause. |
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RHO-Related Retinitis Pigmentosa |
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體染色體顯性色素性視網膜炎 |
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related-gene-list |
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Riboflavin transporter deficiency neuronopathy |
https://ghr.nlm.nih.gov/condition/riboflavin-transporter-deficiency-neuronopathy |
Riboflavin transporter deficiency neuronopathy is a rare condition. |
html:p |
Riboflavin transporter deficiency neuronopathy is a disorder that affects nerve |
ar |
autosomal recessive |
SLC52A2 |
https://ghr.nlm.nih.gov/gene/SLC52A2 |
Brown-Vialetto-Van Laere syndrome |
db |
key |
2016-01 |
2017-12-29 |
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核黃素轉運蛋白缺乏神經元病 |
Approximately 100 cases have been reported in the scientific literature. |
cells (neurons). Affected individuals typically have hearing loss caused by |
related-gene |
gene-symbol |
ghr-page |
BVVLS |
GTR |
C0796274 |
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nerve damage in the inner ear (sensorineural hearing loss) and signs of damage |
SLC52A3 |
https://ghr.nlm.nih.gov/gene/SLC52A3 |
Fazio-Londe disease |
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to other nerves. |
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Fazio-Londe syndrome |
GeneReviews |
riboflavin-tn |
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html:p |
In addition to nerves in the inner ear, riboflavin transporter deficiency |
pontobulbar palsy with deafness |
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neuronopathy involves nerves found in the part of the brain that is connected to |
progressive bulbar palsy with sensorineural deafness |
MeSH |
D010244 |
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the spinal cord (the brainstem), specifically in a region of the brainstem |
riboflavin transporter deficiency |
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known as the pontobulbar region. Damage to these nerves causes paralysis of the |
OMIM |
211530 |
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muscles controlled by them, a condition called pontobulbar palsy. Nerves in the |
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pontobulbar region help control several voluntary muscle activities, including |
Orphanet |
97229 |
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breathing, speaking, and moving the limbs. As a result of pontobulbar palsy, |
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people with riboflavin transporter deficiency neuronopathy can have breathing |
SNOMED CT |
699866005 |
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problems; slurred speech; and muscle weakness in the face, neck, shoulders, and |
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limbs. Affected individuals can also have muscle stiffness (spasticity) and |
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exaggerated reflexes. |
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html:p |
The age at which riboflavin transporter deficiency neuronopathy begins varies |
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from infancy to young adulthood. When the condition begins in infancy, the first |
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symptom is often breathing problems caused by nerve damage, which can be |
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life-threatening. When the condition begins in children or young adults, |
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sensorineural hearing loss usually occurs first, followed by signs of |
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pontobulbar palsy. |
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html:p |
If not treated, the signs and symptoms of riboflavin transporter deficiency |
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neuronopathy worsen over time. Severe breathing problems and respiratory |
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infections are the usual cause of death in people with this condition. Without |
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treatment, affected infants typically survive less than one year. However, those |
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who develop the condition after age 4 often survive more than 10 years. |
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html:p |
Riboflavin transporter deficiency neuronopathy encompasses two conditions that |
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were once considered distinct disorders: Brown-Vialetto-Van Laere syndrome |
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(BVVLS) and Fazio-Londe disease. The two conditions have similar signs and |
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symptoms, but Fazio-Londe disease does not include sensorineural hearing loss. |
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Because these two conditions share a genetic cause and have overlapping |
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features, researchers determined that they are forms of a single disorder. |
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related-gene-list |
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Ring chromosome 14 syndrome |
https://ghr.nlm.nih.gov/condition/ring-chromosome-14-syndrome |
Ring chromosome 14 syndrome appears to be a rare condition, although its |
html:p |
Ring chromosome 14 syndrome is a condition characterized by seizures and |
n |
not inherited |
14 |
https://ghr.nlm.nih.gov/chromosome/14 |
ring 14 |
db |
key |
2015-10 |
2017-12-29 |
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環染色體14綜合症 |
prevalence is unknown. More than 50 affected individuals have been reported in |
intellectual disability. Recurrent seizures (epilepsy) develop in infancy or |
ring 14 syndrome |
GTR |
C2930916 |
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the medical literature. |
early childhood. In many cases, the seizures are resistant to treatment with |
ring chromosome 14 |
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anti-epileptic drugs. Most people with ring chromosome 14 syndrome also have |
MeSH |
D012303 |
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some degree of intellectual disability or learning problems. Development may be |
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delayed, particularly the development of speech and of motor skills such as |
Orphanet |
1440 |
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sitting, standing, and walking. |
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html:p |
Additional features of ring chromosome 14 syndrome can include slow growth and |
SNOMED CT |
702345009 |
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short stature, a small head (microcephaly), puffy hands and/or feet caused by a |
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buildup of fluid (lymphedema), and subtle differences in facial features. Some |
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affected individuals have problems with their immune system that lead to |
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recurrent infections, especially involving the respiratory system. Abnormalities |
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of the retina, the specialized tissue at the back of the eye that detects light |
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and color, have also been reported in some people with this condition. These |
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changes typically do not affect vision. Major birth defects are rarely seen with |
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ring chromosome 14 syndrome. |
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related-gene-list |
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Ring chromosome 20 syndrome |
https://ghr.nlm.nih.gov/condition/ring-chromosome-20-syndrome |
Ring chromosome 20 syndrome appears to be a rare condition, although its |
html:p |
Ring chromosome 20 syndrome is a condition that affects the normal development |
n |
not inherited |
20 |
https://ghr.nlm.nih.gov/chromosome/20 |
r(20) syndrome |
db |
key |
2009-05 |
2017-12-29 |
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環染色體20綜合症 |
prevalence is unknown. More than 60 affected individuals have been reported in |
and function of the brain. The most common feature of this condition is |
ring 20 syndrome |
GTR |
C0265482 |
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the medical literature. |
recurrent seizures (epilepsy) in childhood. The seizures may occur during the |
ring chromosome 20 |
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day or at night during sleep. They are described as partial seizures because |
ring chromosome 20 epilepsy syndrome |
MeSH |
D012303 |
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they affect only one area of the brain, a region called the frontal lobe. In |
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many cases, the seizures are complex and resistant to treatment with |
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Orphanet |
1444 |
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anti-epileptic drugs. Prolonged seizure episodes known as non-convulsive status |
db |
key |
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epilepticus also appear to be characteristic of ring chromosome 20 syndrome. |
SNOMED CT |
23686004 |
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These episodes involve confusion and behavioral changes. |
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html:p |
Most people with ring chromosome 20 syndrome also have some degree of |
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intellectual disability and behavioral difficulties. Although these problems can |
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appear either before or after the onset of epilepsy, they tend to worsen after |
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seizures develop. Additional features of this condition can include slow growth |
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and short stature, a small head (microcephaly), and subtle differences in facial |
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features. Major birth defects are rarely seen with ring chromosome 20 syndrome. |
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related-gene-list |
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Rippling muscle disease |
https://ghr.nlm.nih.gov/condition/rippling-muscle-disease |
The prevalence of rippling muscle disease is unknown. |
html:p |
Rippling muscle disease is a condition in which the muscles are unusually |
ad |
autosomal dominant |
CAV3 |
https://ghr.nlm.nih.gov/gene/CAV3 |
rippling muscle syndrome |
db |
key |
2014-05 |
2017-12-29 |
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sensitive to movement or pressure (irritable). The muscles near the center of |
code |
memo |
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RMD |
GTR |
C1853698 |
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the body (proximal muscles) are most affected, especially the thighs. In most |
ar |
autosomal recessive |
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people with this condition, stretching the muscle causes visible ripples to |
GeneReviews |
cav |
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spread across the muscle, lasting 5 to 20 seconds. A bump or other sudden impact |
db |
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on the muscle causes it to bunch up (percussion-induced muscle mounding) or |
MeSH |
D020967 |
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exhibit repetitive tensing (percussion-induced rapid contraction). The rapid |
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contractions can continue for up to 30 seconds and may be painful. |
|
OMIM |
600332 |
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html:p |
People with rippling muscle disease may have overgrowth (hypertrophy) of some |
db |
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muscles, especially in the calf. Some affected individuals have an abnormal |
OMIM |
606072 |
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pattern of walking (gait), such as walking on tiptoe. They may experience |
db |
key |
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fatigue, cramps, or muscle stiffness, especially after exercise or in cold |
|
SNOMED CT |
709281006 |
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temperatures. |
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html:p |
The age of onset of rippling muscle disease varies widely, but it often begins |
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in late childhood or adolescence. Rippling muscles may also occur as a feature |
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of other muscle disorders such as limb-girdle muscular dystrophy. |
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related-gene-list |
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RNAse T2-deficient leukoencephalopathy |
https://ghr.nlm.nih.gov/condition/rnase-t2-deficient-leukoencephalopathy |
The prevalence of RNAse T2-deficient leukoencephalopathy is unknown. About |
html:p |
RNAse T2-deficient leukoencephalopathy is a disorder that affects the brain. |
ar |
autosomal recessive |
RNASET2 |
https://ghr.nlm.nih.gov/gene/RNASET2 |
cystic leukoencephalopathy without megalencephaly |
db |
key |
2016-11 |
2017-12-29 |
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RNA酶T2缺陷性白質腦病 |
50 people with the signs and symptoms of this disorder have been described in |
People with RNAse T2-deficient leukoencephalopathy have neurological problems |
LBATC |
GTR |
C2751843 |
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the medical literature. However, only about a quarter of these individuals have |
that become apparent during infancy; the problems generally do not worsen over |
leukoencephalopathy with bilateral anterior temporal lobe cysts |
db |
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been confirmed to have the same genetic change that causes RNAse T2-deficient |
time (progress). Most affected individuals have severe intellectual disability; |
RNASET2-deficient cystic leukoencephalopathy |
GeneReviews |
leukodys-ov |
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leukoencephalopathy. Researchers suggest that additional genetic changes or |
muscle stiffness (spasticity); and a delay in developing motor skills such as |
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other causes may also result in the same pattern of signs and symptoms |
sitting, crawling, and walking. Some do not learn to walk, and most do not |
MeSH |
D020279 |
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(phenotype). |
develop the ability to speak. Other neurological features that can occur in |
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RNAse T2-deficient leukoencephalopathy include hearing loss caused by |
OMIM |
612951 |
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abnormalities in the inner ear (sensorineural deafness), seizures, involuntary |
db |
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writhing movements of the hands (athetosis), uncontrolled muscle tensing |
Orphanet |
85136 |
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(dystonia), and involuntary eye movements (nystagmus). In addition to the |
db |
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neurological problems associated with this disorder, some affected individuals |
SNOMED CT |
720825005 |
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have unusual facial features sometimes described as a "doll-like face." |
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html:p |
The neurological problems in this disorder are caused by abnormalities in the |
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brain. People with this condition have leukoencephalopathy, an abnormality of |
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the brain's white matter that can be detected with medical imaging. White matter |
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consists of nerve fibers covered by a fatty substance called myelin. Myelin |
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insulates nerve fibers and promotes the rapid transmission of nerve impulses. In |
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people with RNAse T2-deficient leukoencephalopathy, myelin is not made in |
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sufficient amounts during development, leading to patchy white matter |
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abnormalities (lesions) in the brain. In addition, individuals with RNAse |
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T2-deficient leukoencephalopathy may have cysts in regions of the brain called |
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the temporal lobes and enlargement of the fluid-filled cavities (ventricles) |
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near the center of the brain. The white matter lesions are primarily |
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concentrated around the cysts and the ventricles. An abnormally small head and |
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brain size (microcephaly) often occurs in this disorder. |
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related-gene-list |
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Roberts syndrome |
https://ghr.nlm.nih.gov/condition/roberts-syndrome |
Roberts syndrome is a rare disorder; approximately 150 affected individuals |
html:p |
Roberts syndrome is a genetic disorder characterized by limb and facial |
ar |
autosomal recessive |
ESCO2 |
https://ghr.nlm.nih.gov/gene/ESCO2 |
Appelt-Gerken-Lenz syndrome |
db |
key |
2009-01 |
2017-12-29 |
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|
羅伯茨綜合症 |
have been reported. |
abnormalities. Affected individuals also grow slowly before and after birth. |
Hypomelia hypotrichosis facial hemangioma syndrome |
GTR |
C0392475 |
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Mild to severe intellectual impairment occurs in half of all people with Roberts |
Pseudothalidomide syndrome |
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syndrome. |
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RBS |
GeneReviews |
rbs |
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html:p |
Children with Roberts syndrome are born with abnormalities of all four limbs. |
Roberts-SC phocomelia syndrome |
db |
key |
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They have shortened arm and leg bones (hypomelia), particularly the bones in |
SC phocomelia syndrome |
MeSH |
D000015 |
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their forearms and lower legs. In severe cases, the limbs may be so short that |
SC pseudothalidomide syndrome |
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the hands and feet are located very close to the body (phocomelia). People with |
SC syndrome |
OMIM |
268300 |
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Roberts syndrome may also have abnormal or missing fingers and toes, and joint |
tetraphocomelia-cleft palate syndrome |
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deformities (contractures) commonly occur at the elbows and knees. The limb |
OMIM |
269000 |
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abnormalities are very similar on the right and left sides of the body, but arms |
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are usually more severely affected than legs. |
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Orphanet |
3103 |
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html:p |
Individuals with Roberts syndrome typically have numerous facial abnormalities, |
db |
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including an opening in the lip (a cleft lip) with or without an opening in the |
SNOMED CT |
48718006 |
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roof of the mouth (cleft palate), a small chin (micrognathia), ear |
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abnormalities, wide-set eyes (hypertelorism), outer corners of the eyes that |
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point downward (down-slanting palpebral fissures), small nostrils, and a beaked |
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nose. They may have a small head size (microcephaly), and in severe cases |
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affected individuals have a sac-like protrusion of the brain (encephalocele) at |
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the front of their head. In addition, people with Roberts syndrome may have |
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heart, kidney, and genital abnormalities. |
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html:p |
Infants with a severe form of Roberts syndrome are often stillborn or die |
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shortly after birth. Mildly affected individuals may live into adulthood. A |
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condition called SC phocomelia syndrome was originally thought to be distinct |
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from Roberts syndrome; however, it is now considered to be a mild variant. "SC" |
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represents the first letters of the surnames of the two families first |
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diagnosed with this disorder. |
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related-gene-list |
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Robinow syndrome |
https://ghr.nlm.nih.gov/condition/robinow-syndrome |
Both the autosomal recessive and autosomal dominant forms of Robinow |
html:p |
Robinow syndrome is a rare disorder that affects the development of many parts |
ad |
autosomal dominant |
DVL1 |
https://ghr.nlm.nih.gov/gene/DVL1 |
acral dysostosis with facial and genital abnormalities |
db |
key |
2015-09 |
2017-12-29 |
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Robinow氏症 |
syndrome are rare.Fewer than 200 people with autosomal recessive Robinow |
of the body, particularly the bones. Researchers have identified two major types |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
fetal face syndrome |
GTR |
C0265205 |
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syndrome have been described in the medical literature. This form of the |
of Robinow syndrome. The types are distinguished by the severity of their signs |
ar |
autosomal recessive |
ROR2 |
https://ghr.nlm.nih.gov/gene/ROR2 |
mesomelic dwarfism-small genitalia syndrome |
db |
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condition has been identified in families from several countries, including |
and symptoms and by their pattern of inheritance, autosomal recessive or |
related-gene |
gene-symbol |
ghr-page |
Robinow dwarfism |
GTR |
C1849334 |
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Turkey, Oman, Pakistan, and Brazil.Autosomal dominant Robinow syndrome has been |
autosomal dominant. |
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WNT5A |
https://ghr.nlm.nih.gov/gene/WNT5A |
Robinow-Silverman-Smith syndrome |
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diagnosed in fewer than 50 families; about 10 of these families have had the |
html:p |
Autosomal recessive Robinow syndrome is characterized by skeletal abnormalities |
Robinow-Silverman syndrome |
GTR |
C4225164 |
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osteosclerotic form. |
including shortening of the long bones in the arms and legs, particularly the |
Robinow's syndrome |
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forearms; abnormally short fingers and toes (brachydactyly); wedge-shaped spinal |
GTR |
C4225363 |
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bones (hemivertebrae) leading to an abnormal curvature of the spine |
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(kyphoscoliosis); fused or missing ribs; and short stature. Affected individuals |
GeneReviews |
rob |
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also have distinctive facial features, such as a broad forehead, prominent and |
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widely spaced eyes, a short nose with an upturned tip, a wide nasal bridge, and |
GeneReviews |
rob-ad |
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a broad and triangle-shaped mouth. Together, these facial features are sometimes |
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described as "fetal facies" because they resemble the facial structure of a |
MeSH |
D000015 |
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developing fetus. Other common features of autosomal recessive Robinow syndrome |
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include underdeveloped genitalia in both males and females, and dental problems |
OMIM |
180700 |
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such as crowded teeth and overgrowth of the gums. Kidney and heart defects are |
db |
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also possible. Delayed development occurs in 10 to 15 percent of people with |
OMIM |
268310 |
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this condition, although intelligence is usually normal. |
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html:p |
Autosomal dominant Robinow syndrome has signs and symptoms that are similar to, |
OMIM |
616331 |
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but tend to be milder than, those of the autosomal recessive form. Abnormalities |
db |
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of the spine and ribs are rarely seen in the autosomal dominant form, and short |
OMIM |
616894 |
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stature is less pronounced. A variant form of autosomal dominant Robinow |
db |
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syndrome features increased bone mineral density (osteosclerosis) in addition to |
Orphanet |
1507 |
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the signs and symptoms listed above. This variant is called the osteosclerotic |
db |
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form of Robinow syndrome. |
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Orphanet |
3107 |
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db |
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Orphanet |
97360 |
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db |
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related-gene-list |
|
SNOMED CT |
76520005 |
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Romano-Ward syndrome |
https://ghr.nlm.nih.gov/condition/romano-ward-syndrome |
Romano-Ward syndrome is the most common form of inherited long QT syndrome, |
html:p |
Romano-Ward syndrome is a condition that causes a disruption of the heart's |
ad |
autosomal dominant |
AKAP9 |
https://ghr.nlm.nih.gov/gene/AKAP9 |
RWS |
db |
key |
2017-05 |
2017-12-29 |
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羅馬諾沃德綜合症 |
which affects an estimated 1 in 2,000 people worldwide. Long QT syndrome may |
normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which |
related-gene |
gene-symbol |
ghr-page |
Ward-Romano Syndrome |
GTR |
C0035828 |
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actually be more common than this estimate, however, because some people never |
is a heart condition that causes the heart (cardiac) muscle to take longer than |
CALM1 |
https://ghr.nlm.nih.gov/gene/CALM1 |
WRS |
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experience any symptoms associated with arrhythmia and therefore may not be |
usual to recharge between beats. The term "long QT" refers to a specific pattern |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1859062 |
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diagnosed. |
of heart activity that is detected with an electrocardiogram (ECG or EKG), |
CALM2 |
https://ghr.nlm.nih.gov/gene/CALM2 |
db |
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which is a test used to measure the electrical activity of the heart. In people |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3150943 |
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with long QT syndrome, the part of the heartbeat known as the QT interval is |
CAV3 |
https://ghr.nlm.nih.gov/gene/CAV3 |
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abnormally long. Abnormalities in the time it takes to recharge the heart lead |
related-gene |
gene-symbol |
ghr-page |
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GTR |
CN119492 |
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to abnormal heart rhythms. |
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KCNH2 |
https://ghr.nlm.nih.gov/gene/KCNH2 |
db |
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html:p |
The arrhythmia associated with Romano-Ward syndrome can lead to fainting |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
rws |
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(syncope) or cardiac arrest and sudden death. However, some people with |
KCNJ5 |
https://ghr.nlm.nih.gov/gene/KCNJ5 |
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Romano-Ward syndrome never experience any health problems associated with the |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
I45.81 |
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condition. |
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KCNQ1 |
https://ghr.nlm.nih.gov/gene/KCNQ1 |
db |
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html:p |
Fifteen types of long QT syndrome have been defined based on their genetic |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D029597 |
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cause. Some types of long QT syndrome involve other cardiac abnormalities or |
SCN4B |
https://ghr.nlm.nih.gov/gene/SCN4B |
db |
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problems with additional body systems. Romano-Ward syndrome encompasses those |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
192500 |
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types that involve only a long QT interval without other abnormalities. |
SCN5A |
https://ghr.nlm.nih.gov/gene/SCN5A |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
603830 |
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SNTA1 |
https://ghr.nlm.nih.gov/gene/SNTA1 |
db |
key |
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OMIM |
613688 |
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db |
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Orphanet |
768 |
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db |
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related-gene-list |
|
SNOMED CT |
20852007 |
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Rothmund-Thomson syndrome |
https://ghr.nlm.nih.gov/condition/rothmund-thomson-syndrome |
Rothmund-Thomson syndrome is a rare disorder; its incidence is unknown. |
html:p |
Rothmund-Thomson syndrome is a rare condition that affects many parts of the |
ar |
autosomal recessive |
RECQL4 |
https://ghr.nlm.nih.gov/gene/RECQL4 |
congenital poikiloderma |
db |
key |
2013-08 |
2017-12-29 |
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About 300 people with this condition have been reported worldwide in scientific |
body, especially the skin. People with this condition typically develop redness |
poikiloderma atrophicans and cataract |
GTR |
C0032339 |
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studies. |
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on the cheeks between ages 3 months and 6 months. Over time the rash spreads to |
poikiloderma congenitale |
db |
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the arms and legs, causing patchy changes in skin coloring, areas of thinning |
poikiloderma congenitale of Rothmund-Thomson |
GeneReviews |
rts |
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skin (atrophy), and small clusters of blood vessels just under the skin |
RTS |
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(telangiectases). These skin problems persist for life and are collectively |
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MeSH |
D011038 |
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known as poikiloderma. |
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db |
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html:p |
Rothmund-Thomson syndrome is also characterized by sparse hair, eyebrows, and |
OMIM |
268400 |
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eyelashes; slow growth and small stature; abnormalities of the teeth and nails; |
db |
key |
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and gastrointestinal problems in infancy, such as chronic diarrhea and vomiting. |
Orphanet |
2909 |
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Some affected children develop a clouding of the lens of the eye (cataract), |
db |
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which affects vision. Many people with this disorder have skeletal abnormalities |
SNOMED CT |
69093006 |
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including absent or malformed bones, fused bones, and low bone mineral density |
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(osteopenia or osteoporosis). Some of these abnormalities affect the development |
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of bones in the forearms and the thumbs, and are known as radial ray |
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malformations. |
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html:p |
People with Rothmund-Thomson syndrome have an increased risk of developing |
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cancer, particularly a form of bone cancer called osteosarcoma. These bone |
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tumors most often develop during childhood or adolescence. Several types of skin |
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cancer, including basal cell carcinoma and squamous cell carcinoma, are also |
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more common in people with this disorder. |
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html:p |
The varied signs and symptoms of Rothmund-Thomson syndrome overlap with features |
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of other disorders, namely Baller-Gerold syndrome and RAPADILINO syndrome. |
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These syndromes are also characterized by radial ray defects, skeletal |
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abnormalities, and slow growth. All of these conditions can be caused by |
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mutations in the same gene. Based on these similarities, researchers are |
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investigating whether Rothmund-Thomson syndrome, Baller-Gerold syndrome, and |
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RAPADILINO syndrome are separate disorders or part of a single syndrome with |
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overlapping signs and symptoms. |
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related-gene-list |
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Rotor syndrome |
https://ghr.nlm.nih.gov/condition/rotor-syndrome |
Rotor syndrome is a rare condition, although its prevalence is unknown. |
html:p |
Rotor syndrome is a relatively mild condition characterized by elevated levels |
ar |
autosomal recessive |
SLCO1B1 |
https://ghr.nlm.nih.gov/gene/SLCO1B1 |
hyperbilirubinemia, Rotor type |
db |
key |
2013-03 |
2017-12-29 |
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轉子綜合症 |
|
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of a substance called bilirubin in the blood (hyperbilirubinemia). Bilirubin is |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0220991 |
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produced when red blood cells are broken down. It has an orange-yellow tint, and |
SLCO1B3 |
https://ghr.nlm.nih.gov/gene/SLCO1B3 |
db |
key |
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buildup of this substance can cause yellowing of the skin or whites of the eyes |
GeneReviews |
rotor |
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(jaundice). In people with Rotor syndrome, jaundice is usually evident shortly |
db |
key |
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after birth or in childhood and may come and go; yellowing of the whites of the |
MeSH |
D006933 |
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eyes (also called conjunctival icterus) is often the only symptom. |
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db |
key |
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html:p |
There are two forms of bilirubin in the body: a toxic form called unconjugated |
OMIM |
237450 |
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bilirubin and a nontoxic form called conjugated bilirubin. People with Rotor |
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syndrome have a buildup of both unconjugated and conjugated bilirubin in their |
Orphanet |
3111 |
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blood, but the majority is conjugated. |
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RP1-Related Retinitis Pigmentosa |
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體染色體顯性色素性視網膜炎 |
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inheritance-pattern-list |
related-gene-list |
SNOMED CT |
32891000 |
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RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with |
https://ghr.nlm.nih.gov/condition/rrm2b-related-mitochondrial-dna-depletion-synd |
RRM2B-MDS is a rare condition; the exact prevalence is unknown. At least 15 |
html:p |
html:i |
|
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ar |
autosomal recessive |
ghr-page |
mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal |
db-key |
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key |
2016-11 |
2017-12-29 |
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renal tubulopathy |
rome-encephalomyopathic-form-with-renal-tubulopathy |
cases have been reported in the medical literature. |
RRM2B |
-MDS) is a severe condition that begins in infancy and affects multiple body |
https://ghr.nlm.nih.gov/gene/RRM2B |
tubulopathy) |
|
GTR |
CN187502 |
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systems. It is associated with brain dysfunction combined with muscle weakness |
MTDPS8A |
db-key |
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(encephalomyopathy). Many affected individuals also have a kidney dysfunction |
RRM2B-MDS |
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GeneReviews |
rrm2b-mtddepl |
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known as renal tubulopathy. |
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db-key |
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html:p |
html:i |
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MeSH |
D017237 |
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Weakness of the muscles used for breathing leads to serious breathing difficulties |
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and can result in life-threatening respiratory failure. Most affected infants have a buildup |
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OMIM |
612075 |
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of a chemical called lactic acid in the body (lactic acidosis), which can also be life-threatening. |
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db-key |
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Orphanet |
255235 |
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db-key |
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Orphanet |
35698 |
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html:p |
html:i |
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RRM2B |
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-MDS develop seizures or hearing loss that is caused by nerve damage in the |
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inner ear (sensorineural hearing loss). |
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html:p |
Because of the severity of the signs and symptoms, people with RRM2B-MDS usually |
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live only into early childhood |
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related-gene-list |
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Rubinstein-Taybi syndrome, RSTS |
https://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome |
This condition is uncommon; it occurs in an estimated 1 in 100,000 to |
html:p |
Rubinstein-Taybi syndrome is a condition characterized by short stature, |
ad |
autosomal dominant |
CREBBP |
https://ghr.nlm.nih.gov/gene/CREBBP |
Broad Thumb-Hallux Syndrome |
db |
key |
2007-01 |
2017-12-29 |
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Rubinstein-Taybi氏症候群 |
125,000 newborns. |
moderate to severe intellectual disability, distinctive facial features, and |
related-gene |
gene-symbol |
ghr-page |
RSTS |
GTR |
C0035934 |
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魯賓斯坦-泰必氏綜合症 |
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broad thumbs and first toes. Additional features of the disorder can include |
EP300 |
https://ghr.nlm.nih.gov/gene/EP300 |
RTS |
db |
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eye abnormalities, heart and kidney defects, dental problems, and obesity. |
related-chromosome |
name |
ghr-page |
|
GTR |
C3150941 |
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These signs and symptoms vary among affected individuals. People with this |
16 |
https://ghr.nlm.nih.gov/chromosome/16 |
db |
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condition have an increased risk of developing noncancerous and cancerous |
GeneReviews |
rsts |
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tumors, including certain kinds of brain tumors. Cancer of blood-forming tissue |
db |
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(leukemia) also occurs more frequently in people with Rubinstein-Taybi syndrome. |
MeSH |
D012415 |
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html:p |
Rarely, Rubinstein-Taybi syndrome can involve serious complications such as a |
db |
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failure to gain weight and grow at the expected rate (failure to thrive) and |
|
OMIM |
180849 |
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life-threatening infections. Infants born with this severe form of the disorder |
db |
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usually survive only into early childhood. |
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OMIM |
613684 |
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db |
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Orphanet |
783 |
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db |
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related-gene-list |
|
SNOMED CT |
45582004 |
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Russell-Silver syndrome |
https://ghr.nlm.nih.gov/condition/russell-silver-syndrome |
The exact incidence of Russell-Silver syndrome is unknown. Worldwide |
html:p |
Russell-Silver syndrome is a growth disorder characterized by slow growth before |
ad |
autosomal dominant |
H19 |
https://ghr.nlm.nih.gov/gene/H19 |
RSS |
db |
key |
2016-09 |
2017-12-29 |
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羅素-西弗氏症 |
estimates range from 1 in 30,000 to 1 in 100,000 people. |
and after birth. Babies with this condition have a low birth weight and often |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Silver-Russell dwarfism |
GTR |
C0175693 |
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Silver-Russell syndrome |
|
fail to grow and gain weight at the expected rate (failure to thrive). Head |
ar |
autosomal recessive |
IGF2 |
https://ghr.nlm.nih.gov/gene/IGF2 |
Silver-Russell syndrome |
db |
key |
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Silver-Russell 症候群 |
|
growth is normal, however, so the head may appear unusually large compared to |
code |
memo |
related-chromosome |
name |
ghr-page |
SRS |
GeneReviews |
rss |
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the rest of the body. Affected children are thin and have poor appetites, and |
xd |
X-linked dominant |
7 |
https://ghr.nlm.nih.gov/chromosome/7 |
db |
key |
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some develop recurrent episodes of low blood sugar (hypoglycemia) as a result of |
related-chromosome |
name |
ghr-page |
|
MeSH |
D056730 |
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feeding difficulties. Adults with Russell-Silver syndrome are short; the |
11 |
https://ghr.nlm.nih.gov/chromosome/11 |
db |
key |
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average height for affected men is about 151 centimeters (4 feet, 11 inches) and |
OMIM |
180860 |
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the average height for affected women is about 140 centimeters (4 feet, 7 |
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inches). |
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Orphanet |
813 |
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html:p |
Many children with Russell-Silver syndrome have a small, triangular face with |
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distinctive facial features including a prominent forehead, a narrow chin, a |
SNOMED CT |
15069006 |
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small jaw, and downturned corners of the mouth. Other features of this disorder |
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can include an unusual curving of the fifth finger (clinodactyly), asymmetric or |
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uneven growth of some parts of the body, and digestive system abnormalities. |
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Russell-Silver syndrome is also associated with an increased risk of delayed |
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development, speech and language problems, and learning disabilities. |
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related-gene-list |
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SADDAN |
https://ghr.nlm.nih.gov/condition/saddan |
This disorder is very rare; it has been described in only a small number of |
html:p |
SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) |
ad |
autosomal dominant |
FGFR3 |
https://ghr.nlm.nih.gov/gene/FGFR3 |
achondroplasia, severe, with developmental delay and acanthosis nigricans |
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2012-10 |
2017-12-29 |
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individuals worldwide. |
is a rare disorder of bone growth characterized by skeletal, brain, and skin |
SADDAN dysplasia |
GTR |
C2674173 |
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abnormalities. |
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Severe achondroplasia with developmental delay and acanthosis nigricans |
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html:p |
All people with this condition have extremely short stature with particularly |
Skeleton-skin-brain syndrome |
GeneReviews |
achondroplasia |
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short arms and legs. Other features include unusual bowing of the leg bones; a |
SSB syndrome |
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small chest with short ribs and curved collar bones; short, broad fingers; and |
MeSH |
D000130 |
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folds of extra skin on the arms and legs. Structural abnormalities of the brain |
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cause seizures, profound developmental delay, and intellectual disability. |
SNOMED CT |
699870002 |
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Several affected individuals also have had episodes in which their breathing |
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slows or stops for short periods (apnea). Acanthosis nigricans, a progressive |
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skin disorder characterized by thick, dark, velvety skin, is another |
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characteristic feature of SADDAN that develops in infancy or early childhood. |
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related-gene-list |
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Saethre-Chotzen syndrome |
https://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome |
Saethre-Chotzen syndrome has an estimated prevalence of 1 in 25,000 to |
html:p |
Saethre-Chotzen syndrome is a genetic condition characterized by the premature |
ad |
autosomal dominant |
TWIST1 |
https://ghr.nlm.nih.gov/gene/TWIST1 |
acrocephalosyndactyly III |
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2008-02 |
2017-12-29 |
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Saethre-Chotzen綜合症 |
50,000 people. |
fusion of certain skull bones (craniosynostosis). This early fusion prevents the |
related-chromosome |
name |
ghr-page |
Acrocephalosyndactyly, type III |
GTR |
C0175699 |
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skull from growing normally and affects the shape of the head and face. |
7 |
https://ghr.nlm.nih.gov/chromosome/7 |
Acrocephaly, Skull Asymmetry, and Mild Syndactyly |
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html:p |
Most people with Saethre-Chotzen syndrome have prematurely fused skull bones |
ACS III |
GTR |
C1867146 |
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along the coronal suture, the growth line that goes over the head from ear to |
ACS3 |
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ear. Other parts of the skull may be malformed as well. These changes can |
Chotzen syndrome |
GeneReviews |
scs |
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result in an abnormally shaped head, a high forehead, a low frontal hairline, |
dysostosis craniofacialis with hypertelorism |
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droopy eyelids (ptosis), widely spaced eyes, and a broad nasal bridge. One side |
SCS |
MeSH |
D000168 |
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of the face may appear noticeably different from the other (facial asymmetry). |
db |
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Most people with Saethre-Chotzen syndrome also have small, unusually shaped |
OMIM |
101400 |
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ears. |
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html:p |
The signs and symptoms of Saethre-Chotzen syndrome vary widely, even among |
OMIM |
180750 |
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affected individuals in the same family. This condition can cause mild |
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abnormalities of the hands and feet, such as fusion of the skin between the |
Orphanet |
794 |
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second and third fingers on each hand and a broad or duplicated first (big) toe. |
db |
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Delayed development and learning difficulties have been reported, although most |
SNOMED CT |
83015004 |
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people with this condition are of normal intelligence. Less common signs and |
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symptoms of Saethre-Chotzen syndrome include short stature, abnormalities of the |
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bones of the spine (the vertebra), hearing loss, and heart defects. |
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html:p |
Robinow-Sorauf syndrome is a condition with features similar to those of |
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Saethre-Chotzen syndrome, including craniosynostosis and broad or duplicated |
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great toes. It was once considered a separate disorder, but was found to result |
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from mutations in the same gene and is now thought to be a mild variant of |
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Saethre-Chotzen syndrome. |
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related-gene-list |
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Sandhoff disease |
https://ghr.nlm.nih.gov/condition/sandhoff-disease |
Sandhoff disease is a rare disorder; its frequency varies among |
html:p |
Sandhoff disease is a rare inherited disorder that progressively destroys nerve |
ar |
autosomal recessive |
HEXB |
https://ghr.nlm.nih.gov/gene/HEXB |
Beta-hexosaminidase-beta-subunit deficiency |
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key |
2008-09 |
2017-12-29 |
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山多夫氏病 |
populations. This condition appears to be more common in the Creole population |
cells (neurons) in the brain and spinal cord. |
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GM2 gangliosidosis, type 2 |
GTR |
C0036161 |
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of northern Argentina; the Metis Indians in Saskatchewan, Canada; and people |
html:p |
The most common and severe form of Sandhoff disease becomes apparent in infancy. |
GM2 Gangliosidosis, Type II |
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from Lebanon. |
Infants with this disorder typically appear normal until the age of 3 to 6 |
Hexosaminidase A and B Deficiency Disease |
ICD-10-CM |
E75.01 |
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months, when their development slows and muscles used for movement weaken. |
Sandhoff-Jatzkewitz-Pilz disease |
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Affected infants lose motor skills such as turning over, sitting, and crawling. |
Total hexosaminidase deficiency |
MeSH |
D012497 |
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They also develop an exaggerated startle reaction to loud noises. As the disease |
db |
key |
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progresses, children with Sandhoff disease experience seizures, vision and |
OMIM |
268800 |
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hearing loss, intellectual disability, and paralysis. An eye abnormality called |
db |
key |
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a cherry-red spot, which can be identified with an eye examination, is |
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796 |
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characteristic of this disorder. Some affected children also have enlarged |
db |
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organs (organomegaly) or bone abnormalities. Children with the severe infantile |
SNOMED CT |
23849003 |
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form of Sandhoff disease usually live only into early childhood. |
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html:p |
Other forms of Sandhoff disease are very rare. Signs and symptoms can begin in |
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childhood, adolescence, or adulthood and are usually milder than those seen with |
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the infantile form. Characteristic features include muscle weakness, loss of |
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muscle coordination (ataxia) and other problems with movement, speech problems, |
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and mental illness. These signs and symptoms vary widely among people with |
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late-onset forms of Sandhoff disease. |
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inheritance-pattern-list |
related-gene-list |
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SATB2-associated syndrome |
https://ghr.nlm.nih.gov/condition/satb2-associated-syndrome |
SATB2-associated syndrome is a rare condition. Its prevalence is unknown. |
html:p |
onset before age 2. |
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n |
not inherited |
ghr-page |
2q32 deletion syndrome |
db-key |
db |
key |
2017-02 |
2017-12-29 |
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SATB2相關綜合徵 |
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SATB2 |
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related-chromosome |
https://ghr.nlm.nih.gov/gene/SATB2 |
2q33.1 microdeletion syndrome |
GTR |
C2676739 |
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Glass Syndrome |
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ghr-page |
chromosome 2q32-q33 deletion syndrome |
db-key |
db |
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Glass氏症候群 |
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https://ghr.nlm.nih.gov/chromosome/2 |
Glass syndrome |
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GeneReviews |
satb2-dis |
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SAS |
db-key |
db |
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MeSH |
D008607 |
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db-key |
db |
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OMIM |
612313 |
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html:p |
html:i |
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SATB2 |
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Less common neurological problems include feeding difficulties and weak muscle tone |
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(hypotonia) in infancy |
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-associated syndrome. Less common neurological problems include feeding |
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difficulties and weak muscle tone (hypotonia) in infancy. About half of affected |
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individuals have abnormalities in the structure of the brain. |
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html:p |
html:i |
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SATB2 |
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-associated syndrome have other unusual facial features, such as a prominent |
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forehead, low-set ears, or a large area between the nose and mouth (a long |
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philtrum). |
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html:p |
Less-commonly affected are the heart, genitals and urinary tract (genitourinary |
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tract), skin, and hair. |
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related-gene-list |
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Scalp-ear-nipple syndrome |
https://ghr.nlm.nih.gov/condition/scalp-ear-nipple-syndrome |
The prevalence of scalp-ear-nipple syndrome is unknown. Only a small number |
html:p |
Scalp-ear-nipple syndrome, as its name suggests, is a condition characterized by |
ad |
autosomal dominant |
KCTD1 |
https://ghr.nlm.nih.gov/gene/KCTD1 |
Finlay-Marks syndrome |
db |
key |
2017-04 |
2017-12-29 |
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頭皮耳乳頭綜合徵 |
of affected individuals have been described in the medical literature. |
abnormalities of the scalp, ears, and nipples. Less frequently, affected |
hereditary syndrome of lumpy scalp, odd ears, and rudimentary nipples |
GTR |
C1867020 |
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individuals have problems affecting other parts of the body. The features of |
SEN syndrome |
db |
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this disorder can vary even within the same family. |
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SENS |
MeSH |
D004476 |
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html:p |
Babies with scalp-ear-nipple syndrome are born with a condition called aplasia |
db |
key |
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cutis congenita, which involves patchy abnormal areas (lesions) on the scalp. |
OMIM |
181270 |
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These lesions are firm, raised, hairless nodules that resemble open wounds or |
db |
key |
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ulcers at birth, but that heal during childhood. |
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Orphanet |
2036 |
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html:p |
The external ears of people with scalp-ear-nipple syndrome may be small, |
db |
key |
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cup-shaped, folded over, or otherwise mildly misshapen. Hearing is generally |
SNOMED CT |
721888002 |
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normal. Affected individuals also have nipples that are underdeveloped |
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(hypothelia) or absent (athelia). In some cases the underlying breast tissue is |
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absent as well (amastia). |
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html:p |
Other features that can occur in this disorder include malformed and brittle |
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fingernails and toenails (nail dystrophy), dental abnormalities including |
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widely-spaced or missing teeth, fusion of the skin between some of the fingers |
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and toes (cutaneous syndactyly), and kidney defects such as underdevelopment |
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(hypoplasia) of one or both kidneys. Unusual facial features, including narrowed |
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openings of the eyes (narrowed palpebral fissures), an increased distance |
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between the inner corners of the eyes (telecanthus), a flat bridge of the nose, |
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and nostrils that open to the front rather than downward (anteverted nares), can |
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also occur in this disorder. |
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related-gene-list |
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Schimke immuno-osseous dysplasia |
https://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia |
Schimke immuno-osseous dysplasia is a very rare condition. The prevalence |
html:p |
Schimke immuno-osseous dysplasia is a condition characterized by short stature, |
ar |
autosomal recessive |
SMARCAL1 |
https://ghr.nlm.nih.gov/gene/SMARCAL1 |
immunoosseous dysplasia, Schimke type |
db |
key |
2008-11 |
2017-12-29 |
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Schimke免疫性骨發育不良 |
in North America is estimated to be one in 1 million to 3 million people. |
kidney disease, and a weakened immune system. In people with this condition, |
Schimke immunoosseous dysplasia |
GTR |
C0877024 |
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short stature is caused by flattened spinal bones (vertebrae), resulting in a |
SIOD |
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shortened neck and trunk. Adult height is typically between 3 and 5 feet. |
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GeneReviews |
siod |
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Kidney (renal) disease often leads to life-threatening renal failure and |
db |
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end-stage renal disease (ESRD). Affected individuals also have a shortage of |
MeSH |
D007153 |
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certain immune system cells called T cells. T cells identify foreign substances |
db |
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and defend the body against infection. A shortage of T cells causes a person |
MeSH |
D010009 |
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to be more susceptible to illness. |
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html:p |
Other features frequently seen in people with this condition include an |
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OMIM |
242900 |
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exaggerated curvature of the lower back (lordosis); darkened patches of skin |
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(hyperpigmentation), typically on the chest and back; and a broad nasal bridge |
Orphanet |
1830 |
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with a rounded tip of the nose. |
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html:p |
Less common signs and symptoms of Schimke immuno-osseous dysplasia include an |
SNOMED CT |
254067002 |
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accumulation of fatty deposits and scar-like tissue in the lining of the |
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arteries (atherosclerosis), reduced blood flow to the brain (cerebral ischemia), |
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migraine-like headaches, an underactive thyroid gland (hypothyroidism), |
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decreased numbers of white blood cells (lymphopenia), underdeveloped hip bones |
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(hypoplastic pelvis), abnormally small head size (microcephaly), a lack of sperm |
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(azoospermia) in males, and irregular menstruation in females. |
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html:p |
In severe cases, many signs of Schimke immuno-osseous dysplasia can be present |
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at birth. People with mild cases of this disorder may not develop signs or |
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symptoms until late childhood. |
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related-gene-list |
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Schindler disease |
https://ghr.nlm.nih.gov/condition/schindler-disease |
Schindler disease is very rare. Only a few individuals with each type of |
html:p |
Schindler disease is an inherited disorder that primarily causes neurological |
ar |
autosomal recessive |
NAGA |
https://ghr.nlm.nih.gov/gene/NAGA |
alpha-galactosidase B deficiency |
db |
key |
2010-02 |
2017-12-29 |
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(Neurology) |
the disorder have been identified. |
problems. |
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alpha-galNAc deficiency, Schindler type |
GTR |
C1836522 |
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html:p |
There are three types of Schindler disease. Schindler disease type I, also |
alpha-N-acetylgalactosaminidase deficiency |
db |
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called the infantile type, is the most severe form. Babies with Schindler |
alpha-NAGA deficiency |
GTR |
C1836544 |
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disease type I appear healthy at birth, but by the age of 8 to 15 months they |
angiokeratoma corporis diffusum-glycopeptiduria |
db |
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stop developing new skills and begin losing skills they had already acquired |
GALB deficiency |
MeSH |
D016464 |
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(developmental regression). As the disorder progresses, affected individuals |
Kanzaki disease |
db |
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develop blindness and seizures, and eventually they lose awareness of their |
lysosomal glycoaminoacid storage disease-angiokeratoma corporis diffusum |
OMIM |
609241 |
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surroundings and become unresponsive. People with this form of the disorder |
NAGA deficiency |
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usually do not survive past early childhood. |
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neuroaxonal dystrophy, Schindler type |
OMIM |
609242 |
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html:p |
Schindler disease type II, also called Kanzaki disease, is a milder form of the |
neuronal axonal dystrophy, Schindler type |
db |
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disorder that usually appears in adulthood. Affected individuals may develop |
Orphanet |
3137 |
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mild cognitive impairment and hearing loss caused by abnormalities of the inner |
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ear (sensorineural hearing loss). They may experience weakness and loss of |
SNOMED CT |
238048001 |
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sensation due to problems with the nerves connecting the brain and spinal cord |
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to muscles and sensory cells (peripheral nervous system). Clusters of enlarged |
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blood vessels that form small, dark red spots on the skin (angiokeratomas) are |
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characteristic of this form of the disorder. |
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html:p |
Schindler disease type III is intermediate in severity between types I and II. |
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Affected individuals may exhibit signs and symptoms beginning in infancy, |
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including developmental delay, seizures, a weakened and enlarged heart |
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(cardiomyopathy), and an enlarged liver (hepatomegaly). In other cases, people |
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with this form of the disorder exhibit behavioral problems beginning in early |
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childhood, with some features of autism spectrum disorders. Autism spectrum |
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disorders are characterized by impaired communication and socialization skills. |
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related-gene-list |
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Schinzel-Giedion syndrome |
https://ghr.nlm.nih.gov/condition/schinzel-giedion-syndrome |
Schinzel-Giedion syndrome is very rare, although the exact prevalence is |
html:p |
Schinzel-Giedion syndrome is a severe condition that is apparent at birth and |
n |
not inherited |
SETBP1 |
https://ghr.nlm.nih.gov/gene/SETBP1 |
Schinzel-Giedion midface retraction syndrome |
db |
key |
2012-01 |
2017-12-29 |
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Schinzel-Giedion綜合徵 |
unknown. |
affects many body systems. Signs and symptoms of this condition include |
Schinzel Giedion syndrome |
GTR |
C1849294 |
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distinctive facial features, neurological problems, and organ and bone |
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db |
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abnormalities. Because of their serious health problems, most affected |
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MeSH |
D000015 |
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individuals do not survive past childhood. |
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db |
key |
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html:p |
Children with Schinzel-Giedion syndrome can have a variety of distinctive |
OMIM |
269150 |
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features. In most affected individuals, the middle of the face looks as though |
db |
key |
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it has been drawn inward (midface retraction). Other facial features include a |
Orphanet |
798 |
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large or bulging forehead; wide-set eyes (ocular hypertelorism); a short, |
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upturned nose; and a wide mouth with a large tongue (macroglossia). Affected |
SNOMED CT |
18899000 |
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individuals can have other distinctive features, including larger than normal |
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gaps between the bones of the skull in infants (fontanelles), a short neck, ear |
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malformations, an inability to secrete tears (alacrima), and excessive hairiness |
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(hypertrichosis). Hypertrichosis often disappears in infancy. |
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html:p |
Children with Schinzel-Giedion syndrome have severe developmental delay. Other |
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neurological problems can include severe feeding problems, seizures, or visual |
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or hearing impairment. |
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Affected individuals can also have abnormalities of organs such as the heart, |
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kidneys, or genitals. Heart defects include problems with the heart valves, |
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which control blood flow in the heart; the chambers of the heart that pump blood |
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to the body (ventricles); or the dividing wall between the sides of the heart |
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(the septum). Most children with Schinzel-Giedion syndrome have accumulation of |
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urine in the kidneys (hydronephrosis), which can occur in one or both kidneys. |
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Affected individuals can have genital abnormalities such as underdevelopment |
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(hypoplasia) of the genitals. Affected boys may have the opening of the urethra |
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on the underside of the penis (hypospadias). |
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html:p |
Bone abnormalities are common in people with Schinzel-Giedion syndrome. The |
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bones at the base of the skull are often abnormally hard or thick (sclerotic), |
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or the joint between the bones at the base of the skull (occipital |
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synchondrosis) can be abnormally wide. In addition, affected individuals may |
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have broad ribs, abnormal collarbones (clavicles), or shortened bones at the |
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ends of the fingers (hypoplastic distal phalanges). |
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html:p |
Children with this condition who survive past infancy have a higher than normal |
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risk of developing certain types of tumors called neuroepithelial tumors. |
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related-gene-list |
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Schizophrenia |
https://ghr.nlm.nih.gov/condition/schizophrenia |
Schizophrenia is a common disorder that occurs all over the world. It |
html:p |
Schizophrenia is a mental health disorder classified as a psychosis, which means |
u |
pattern unknown |
ABCA13 |
https://ghr.nlm.nih.gov/gene/ABCA13 |
dementia praecox |
db |
key |
2016-07 |
2017-12-29 |
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精神分裂症 |
affects almost 1 percent of the population, with slightly more males than |
that it affects a person's thinking, sense of self, and perceptions. The |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0036341 |
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思覺失調症 |
females developing the disorder. |
disorder typically appears during late adolescence or early adulthood. |
C4A |
https://ghr.nlm.nih.gov/gene/C4A |
db |
key |
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html:p |
Signs and symptoms of schizophrenia include false perceptions called |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
F20 |
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hallucinations. Imaginary voices are the most common hallucinations in |
DGCR2 |
https://ghr.nlm.nih.gov/gene/DGCR2 |
db |
key |
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schizophrenia, but affected individuals can also experience imaginary visions, |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D012559 |
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smells, or feelings of being touched. Strongly held false beliefs (delusions) |
DGCR8 |
https://ghr.nlm.nih.gov/gene/DGCR8 |
db |
key |
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are also characteristic of schizophrenia. For example, affected individuals may |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
181500 |
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be certain that they are a particular historical figure or that they are being |
DRD2 |
https://ghr.nlm.nih.gov/gene/DRD2 |
db |
key |
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plotted against or controlled by others. |
related-gene |
gene-symbol |
ghr-page |
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Orphanet |
3140 |
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html:p |
People with schizophrenia often have decreased ability to function at school, at |
MIR137 |
https://ghr.nlm.nih.gov/gene/MIR137 |
db |
key |
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work, and in social settings. Disordered thinking and concentration, |
related-gene |
gene-symbol |
ghr-page |
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SNOMED CT |
58214004 |
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inappropriate emotional responses, erratic speech and behavior, and difficulty |
NOS1AP |
https://ghr.nlm.nih.gov/gene/NOS1AP |
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with personal hygiene and everyday tasks are also features of the disorder. |
related-gene |
gene-symbol |
ghr-page |
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People with schizophrenia may have diminished facial expression and animation |
NRXN1 |
https://ghr.nlm.nih.gov/gene/NRXN1 |
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(flat affect), and in some cases become unresponsive (catatonic). Substance |
related-gene |
gene-symbol |
ghr-page |
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abuse and suicidal thoughts and actions are common in people with schizophrenia. |
OLIG2 |
https://ghr.nlm.nih.gov/gene/OLIG2 |
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html:p |
Certain movement problems such as tremors, facial tics, rigidity, and unusually |
related-gene |
gene-symbol |
ghr-page |
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slow movement (bradykinesia) or an inability to move (akinesia) are common in |
RTN4R |
https://ghr.nlm.nih.gov/gene/RTN4R |
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people with schizophrenia. In most cases these are side effects of medicines |
related-gene |
gene-symbol |
ghr-page |
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given to help control the disorder. However, some affected individuals exhibit |
SYN2 |
https://ghr.nlm.nih.gov/gene/SYN2 |
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movement abnormalities before beginning drug treatment. |
related-gene |
gene-symbol |
ghr-page |
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html:p |
Some people with schizophrenia have mild impairment of intellectual function, |
TOP3B |
https://ghr.nlm.nih.gov/gene/TOP3B |
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but schizophrenia is not associated with the same types of brain changes that |
related-gene |
gene-symbol |
ghr-page |
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occur in people with dementias such as Alzheimer disease. |
YWHAE |
https://ghr.nlm.nih.gov/gene/YWHAE |
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html:p |
Psychotic disorders such as schizophrenia are different from mood disorders, |
related-gene |
gene-symbol |
ghr-page |
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including depression and bipolar disorder, which primarily affect emotions. |
ZDHHC8 |
https://ghr.nlm.nih.gov/gene/ZDHHC8 |
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However, these disorders can occur together. Individuals who exhibit strong |
related-chromosome |
name |
ghr-page |
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features of both schizophrenia and mood disorders are often given the hybrid |
22 |
https://ghr.nlm.nih.gov/chromosome/22 |
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diagnosis of schizoaffective disorder. |
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related-gene-list |
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Schwannomatosis |
https://ghr.nlm.nih.gov/condition/schwannomatosis |
The incidence of schwannomatosis is unknown, although estimates in several |
html:p |
Schwannomatosis is a disorder characterized by multiple noncancerous (benign) |
ad |
autosomal dominant |
LZTR1 |
https://ghr.nlm.nih.gov/gene/LZTR1 |
multiple neurilemmomas |
db |
key |
2017-01 |
2017-12-29 |
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populations have ranged from 1 in 40,000 to 1 in 1.7 million people. Some |
tumors called schwannomas, which are a type of tumor that grows on nerves. |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
multiple schwannomas |
GTR |
C1335929 |
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researchers have suggested that schwannomatosis may be as common as |
Schwannomas develop when Schwann cells, which are specialized cells that |
u |
pattern unknown |
NF2 |
https://ghr.nlm.nih.gov/gene/NF2 |
neurilemmomatosis |
db |
key |
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neurofibromatosis type 2, which has an incidence of 1 in 33,000 people |
normally form an insulating layer around the nerve, grow uncontrollably to form |
related-gene |
gene-symbol |
ghr-page |
neurilemmomatosis, congenital cutaneous |
GTR |
C3810283 |
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worldwide.Schwannomatosis accounts for only a small percentage of all schwannoma |
a tumor. |
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SMARCB1 |
https://ghr.nlm.nih.gov/gene/SMARCB1 |
neurinomatosis |
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tumors. Most schwannomas are isolated, meaning that an individual develops only |
html:p |
The signs and symptoms of schwannomatosis usually appear in early adulthood. The |
neurofibromatosis type 3 |
ICD-10-CM |
Q85.03 |
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a single tumor. It is rarer to have multiple schwannomas, as occurs in |
most common symptom is long-lasting (chronic) pain, which can affect any part |
db |
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schwannomatosis. |
of the body. In some cases, the pain is felt in areas where there are no known |
MeSH |
D009442 |
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tumors. The pain associated with this condition ranges from mild to severe and |
db |
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can be difficult to manage. Other signs and symptoms that can occur with |
MeSH |
D012878 |
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schwannomatosis depend on the location of the tumors and which nerves are |
db |
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affected. These problems include numbness, weakness, tingling, and headaches. |
MeSH |
D017253 |
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The life expectancy of people with schwannomatosis is normal. |
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html:p |
Schwannomatosis is usually considered to be a form of neurofibromatosis, which |
OMIM |
162091 |
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is a group of disorders characterized by the growth of tumors in the nervous |
db |
key |
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system. The other two recognized forms of neurofibromatosis are |
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OMIM |
615670 |
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neurofibromatosis type 1 and neurofibromatosis type 2. The features of |
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schwannomatosis can be very similar to those of neurofibromatosis type 2. |
Orphanet |
93921 |
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However, schwannomatosis almost never includes inner ear tumors called |
db |
key |
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vestibular schwannomas, which are a hallmark of neurofibromatosis type 2. |
SNOMED CT |
1.4E+14 |
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Additional features of the other forms of neurofibromatosis, including the |
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development of other types of tumors, are much less common in schwannomatosis. |
SNOMED CT |
254240003 |
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related-gene-list |
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Schwartz-Jampel syndrome |
https://ghr.nlm.nih.gov/condition/schwartz-jampel-syndrome |
Schwartz-Jampel syndrome appears to be a rare condition. About 150 cases |
html:p |
Schwartz-Jampel syndrome is a rare condition characterized by permanent muscle |
ar |
autosomal recessive |
HSPG2 |
https://ghr.nlm.nih.gov/gene/HSPG2 |
chondrodystrophic myotonia |
db |
key |
2016-04 |
2017-12-29 |
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Schwartz-Jampel 症候群 |
have been reported in the medical literature. |
stiffness (myotonia) and bone abnormalities known as chondrodysplasia. The signs |
myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial |
GTR |
C0036391 |
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and symptoms of this condition become apparent sometime after birth, usually in |
abnormalities |
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early childhood. Either muscle stiffness or chondrodysplasia can appear first. |
Schwartz-Jampel-Aberfeld syndrome |
ICD-10-CM |
G71.13 |
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The muscle and bone abnormalities worsen in childhood, although most affected |
Schwartz-Jampel syndrome, type 1 |
db |
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individuals have a normal lifespan. The specific features of Schwartz-Jampel |
SJA syndrome |
MeSH |
D010009 |
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syndrome vary widely. |
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SJS |
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html:p |
Myotonia involves continuous tensing (contraction) of muscles used for movement |
SJS1 |
OMIM |
255800 |
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(skeletal muscles) throughout the body. This sustained muscle contraction causes |
db |
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stiffness that interferes with eating, sitting, walking, and other movements. |
Orphanet |
800 |
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Sustained contraction of muscles in the face leads to a fixed, "mask-like" |
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facial expression with narrow eye openings (blepharophimosis) and pursed lips. |
SNOMED CT |
29145002 |
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This facial appearance is very specific to Schwartz-Jampel syndrome. Affected |
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individuals may also be nearsighted and experience abnormal blinking or spasms |
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of the eyelids (blepharospasm). |
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html:p |
Chondrodysplasia affects the development of the skeleton, particularly the long |
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bones in the arms and legs and the bones of the hips. These bones are shortened |
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and unusually wide at the ends, so affected individuals have short stature. The |
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long bones may also be abnormally curved (bowed). Other bone abnormalities |
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associated with Schwartz-Jampel syndrome include a protruding chest (pectus |
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carinatum), abnormal curvature of the spine, flattened bones of the spine |
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(platyspondyly), and joint abnormalities called contractures that further |
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restrict movement. |
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html:p |
Researchers originally described two types of Schwartz-Jampel syndrome. Type 1 |
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has the signs and symptoms described above, while type 2 has more severe bone |
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abnormalities and other health problems and is usually life-threatening in early |
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infancy. Researchers have since discovered that the condition they thought was |
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Schwartz-Jampel syndrome type 2 is actually part of another disorder, |
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Stüve-Wiedemann syndrome, which is caused by mutations in a different gene. They |
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have recommended that the designation Schwartz-Jampel syndrome type 2 no longer |
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be used. |
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inheritance-pattern-list |
related-gene-list |
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SCN8A-related epilepsy with encephalopathy |
https://ghr.nlm.nih.gov/condition/scn8a-related-epilepsy-with-encephalopathy |
There are at least 140 individuals with SCN8A-related epilepsy with |
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SCN8A-related epilepsy with encephalopathy is a condition characterized by recurrent seizures |
autosomal dominant |
ghr-page |
early infantile epileptic encephalopathy 13 |
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2017-08 |
2017-12-29 |
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encephalopathy. This condition is estimated to account for 1 percent of all |
(epilepsy), abnormal brain function (encephalopathy), and intellectual disability. |
https://ghr.nlm.nih.gov/gene/SCN8A |
EIEE13 |
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GTR |
C3281191 |
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cases of epilepsy with encephalopathy. |
The signs and symptoms of this condition typically begin in infancy. |
SCN8A encephalopathy |
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GeneReviews |
scn8a-ee |
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SCN8A |
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MeSH |
D001925 |
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db-key |
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-related epilepsy with encephalopathy have more than one type of seizure. The |
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MeSH |
D004831 |
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frequency of seizures in different individuals with this condition ranges from |
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hundreds per day to fewer than one per month. In many individuals, the seizures |
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OMIM |
614558 |
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are described as refractory because they do not respond to therapy with |
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anti-epileptic medications. |
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Orphanet |
1934 |
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db-key |
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SCN8A |
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SNOMED CT |
4.3E+14 |
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In rare cases, individuals with this condition die unexpectedly for no known reason |
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(sudden unexpected death in epilepsy or SUDEP). |
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html:p |
In rare cases, individuals with this condition die unexpectedly for no known |
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reason (sudden unexpected death in epilepsy or SUDEP). |
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related-gene-list |
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Seasonal affective disorder |
https://ghr.nlm.nih.gov/condition/seasonal-affective-disorder |
Seasonal affective disorder occurs in 0.5 to 3 percent of individuals in |
html:p |
Seasonal affective disorder is a mental health condition that is triggered by |
u |
pattern unknown |
ARNTL |
https://ghr.nlm.nih.gov/gene/ARNTL |
affective disorder, seasonal |
db |
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2017-12 |
2017-12-29 |
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季节性情绪失调 |
the general population; it affects 10 to 20 percent of people with major |
the changing of the seasons. This condition is a subtype of major depressive |
related-gene |
gene-symbol |
ghr-page |
depression in a seasonal pattern |
MeSH |
D016574 |
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depressive disorder and about 25 percent of people with bipolar disorder.Some |
disorder and bipolar disorder. Major depressive disorder is characterized by |
CLOCK |
https://ghr.nlm.nih.gov/gene/CLOCK |
depression; seasonal |
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individuals have a condition known as subsyndromal seasonal affective disorder |
prolonged sadness and a general lack of interest, while bipolar disorder is |
related-gene |
gene-symbol |
ghr-page |
major depressive disorder with a seasonal pattern |
OMIM |
608516 |
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or seasonality, which is more common than seasonal affective disorder. These |
characterized by similar depressive episodes alternating with periods of |
CRY2 |
https://ghr.nlm.nih.gov/gene/CRY2 |
SAD |
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individuals have only mild changes in mood that correspond with the changes in |
abnormally high energy and activity (hypomania or mania). People with seasonal |
related-gene |
gene-symbol |
ghr-page |
seasonal depression |
SNOMED CT |
247803002 |
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seasons. |
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affective disorder have signs and symptoms of either major depressive disorder |
HTR2A |
https://ghr.nlm.nih.gov/gene/HTR2A |
seasonal mood disorder |
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or bipolar disorder only during certain months of the year. Major depressive |
related-gene |
gene-symbol |
ghr-page |
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disorder is more common than bipolar disorder among people with seasonal |
NPAS2 |
https://ghr.nlm.nih.gov/gene/NPAS2 |
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affective disorder. This condition usually begins in a person's twenties or |
related-gene |
gene-symbol |
ghr-page |
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thirties. |
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OPN4 |
https://ghr.nlm.nih.gov/gene/OPN4 |
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html:p |
The signs and symptoms that occur during depressive episodes in people with |
related-gene |
gene-symbol |
ghr-page |
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seasonal affective disorder are similar to those of major depressive disorder, |
PER2 |
https://ghr.nlm.nih.gov/gene/PER2 |
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including a loss of interest or enjoyment in activities, a decrease in energy, a |
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depressed mood, and low self-esteem. In most people with seasonal affective |
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disorder, depression and other features appear in the fall and winter months and |
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subside in the spring and summer months. In these individuals, additional |
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symptoms often include weight gain due to increased intake of carbohydrates and |
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an increase in sleep (hypersomnia). Affected individuals with underlying bipolar |
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disorder typically have alternating episodes of depression in the fall and |
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winter months and mania during the spring and summer months. |
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html:p |
In about 10 percent of people with seasonal affective disorder, the condition |
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has the opposite seasonal pattern, occurring in the spring and summer months and |
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stopping during the fall and winter months. These individuals usually have a |
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loss of appetite and sleep, unlike those with symptoms in the fall and winter. |
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html:p |
For those affected, it is estimated that symptoms of seasonal affective disorder |
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are present during 40 percent of the year. In some individuals, seasonal |
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affective disorder does not recur every year. Thirty to 50 percent of affected |
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individuals do not show symptoms of the disorder in consecutive winters. In |
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about 40 percent of individuals with seasonal affective disorder, depressive |
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episodes continue after winter and do not alleviate in the summer months, |
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leading to a change in diagnosis to either major depressive disorder or bipolar |
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disorder. |
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html:p |
Individuals with seasonal affective disorder tend to have another psychological |
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condition, such as attention deficit hyperactivity disorder (ADHD), an eating |
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disorder, anxiety disorder, or panic disorder. |
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Sengers Disease |
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related-gene-list |
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Senior-Løken syndrome |
https://ghr.nlm.nih.gov/condition/senior-loken-syndrome |
Senior-Løken syndrome is a rare disorder, with an estimated prevalence of |
html:p |
Senior-Løken syndrome is a rare disorder characterized by the combination of two |
ar |
autosomal recessive |
CEP290 |
https://ghr.nlm.nih.gov/gene/CEP290 |
Loken-Senior syndrome |
db |
key |
2012-06 |
2017-12-29 |
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高級環綜合徵 |
about 1 in 1 million people worldwide. Only a few families with the condition |
specific features: a kidney condition called nephronophthisis and an eye |
related-gene |
gene-symbol |
ghr-page |
renal dysplasia and retinal aplasia |
GTR |
C0403553 |
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have been described in the medical literature. |
condition known as Leber congenital amaurosis. |
IQCB1 |
https://ghr.nlm.nih.gov/gene/IQCB1 |
renal-retinal syndrome |
db |
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html:p |
Nephronophthisis causes fluid-filled cysts to develop in the kidneys beginning |
related-gene |
gene-symbol |
ghr-page |
Senior-Loken syndrome |
GTR |
C1836517 |
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in childhood. These cysts impair kidney function, initially causing increased |
NPHP1 |
https://ghr.nlm.nih.gov/gene/NPHP1 |
db |
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urine production (polyuria), excessive thirst (polydipsia), general weakness, |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1846979 |
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and extreme tiredness (fatigue). Nephronophthisis leads to end-stage renal |
NPHP4 |
https://ghr.nlm.nih.gov/gene/NPHP4 |
db |
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disease (ESRD) later in childhood or in adolescence. ESRD is a life-threatening |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1846980 |
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failure of kidney function that occurs when the kidneys are no longer able to |
SDCCAG8 |
https://ghr.nlm.nih.gov/gene/SDCCAG8 |
db |
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filter fluids and waste products from the body effectively. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1857779 |
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html:p |
Leber congenital amaurosis primarily affects the retina, which is the |
WDR19 |
https://ghr.nlm.nih.gov/gene/WDR19 |
db |
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specialized tissue at the back of the eye that detects light and color. This |
GTR |
C3150877 |
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condition causes vision problems, including an increased sensitivity to light |
db |
key |
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(photophobia), involuntary movements of the eyes (nystagmus), and extreme |
MeSH |
D052177 |
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farsightedness (hyperopia). Some people with Senior-Løken syndrome develop the |
db |
key |
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signs of Leber congenital amaurosis within the first few years of life, while |
MeSH |
D057130 |
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others do not develop vision problems until later in childhood. |
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db |
key |
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OMIM |
266900 |
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db |
key |
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OMIM |
606995 |
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db |
key |
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OMIM |
606996 |
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db |
key |
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OMIM |
609254 |
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db |
key |
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OMIM |
610189 |
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db |
key |
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OMIM |
613615 |
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db |
key |
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Orphanet |
3156 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
236531005 |
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Sensorineural deafness and male infertility |
https://ghr.nlm.nih.gov/condition/sensorineural-deafness-and-male-infertility |
The prevalence of sensorineural deafness and male infertility is unknown. |
html:p |
Sensorineural deafness and male infertility is a condition characterized by |
ar |
autosomal recessive |
CATSPER2 |
https://ghr.nlm.nih.gov/gene/CATSPER2 |
chromosome 15q15.3 deletion syndrome |
db |
key |
2010-04 |
2017-12-29 |
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hearing loss and an inability to father children. Affected individuals have |
related-gene |
gene-symbol |
ghr-page |
deafness-infertility syndrome |
GTR |
C1970187 |
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moderate to severe sensorineural hearing loss, which is caused by abnormalities |
STRC |
https://ghr.nlm.nih.gov/gene/STRC |
DIS |
db |
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in the inner ear. The hearing loss is typically diagnosed in early childhood and |
related-chromosome |
name |
ghr-page |
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GeneReviews |
catsper-mi |
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does not worsen over time. Males with this condition produce sperm that have |
15 |
https://ghr.nlm.nih.gov/chromosome/15 |
db |
key |
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decreased movement (motility), causing affected males to be infertile. |
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MeSH |
D007248 |
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db |
key |
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OMIM |
611102 |
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db |
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Orphanet |
94064 |
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db |
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related-gene-list |
|
SNOMED CT |
700489002 |
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Sepiapterin reductase deficiency |
https://ghr.nlm.nih.gov/condition/sepiapterin-reductase-deficiency |
Sepiapterin reductase deficiency appears to be a rare condition. At least |
html:p |
Sepiapterin reductase deficiency is a condition characterized by movement |
ar |
autosomal recessive |
SPR |
https://ghr.nlm.nih.gov/gene/SPR |
dopa-responsive dystonia due to sepiapterin reductase deficiency |
db |
key |
2011-06 |
2017-12-29 |
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30 cases have been described in the scientific literature. |
problems, most often a pattern of involuntary, sustained muscle contractions |
SPR deficiency |
GTR |
C0268468 |
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known as dystonia. Other movement problems can include muscle stiffness |
db |
key |
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(spasticity), tremors, problems with coordination and balance (ataxia), and |
GeneReviews |
spr-def |
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involuntary jerking movements (chorea). People with sepiapterin reductase |
db |
key |
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deficiency can experience episodes called oculogyric crises. These episodes |
MeSH |
D004421 |
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involve abnormal rotation of the eyeballs; extreme irritability and agitation; |
db |
key |
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and pain, muscle spasms, and uncontrolled movements, especially of the head and |
OMIM |
612716 |
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neck. Movement abnormalities are often worse late in the day. Most affected |
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individuals have delayed development of motor skills such as sitting and |
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70594 |
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crawling, and they typically are not able to walk unassisted. The problems with |
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movement tend to worsen over time. |
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SNOMED CT |
45116002 |
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People with sepiapterin reductase deficiency may have additional signs and |
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symptoms including an unusually small head size (microcephaly), intellectual |
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disability, seizures, excessive sleeping, and mood swings. |
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related-gene-list |
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Septo-optic dysplasia |
https://ghr.nlm.nih.gov/condition/septo-optic-dysplasia |
Septo-optic dysplasia has a reported incidence of 1 in 10,000 newborns. |
html:p |
Septo-optic dysplasia is a disorder of early brain development. Although its |
ad |
autosomal dominant |
HESX1 |
https://ghr.nlm.nih.gov/gene/HESX1 |
De Morsier syndrome |
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2010-03 |
2017-12-29 |
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狄莫西亞氏症候群 |
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signs and symptoms vary, this condition is traditionally defined by three |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
septooptic dysplasia |
GTR |
C0338503 |
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characteristic features: underdevelopment (hypoplasia) of the optic nerves, |
ar |
autosomal recessive |
OTX2 |
https://ghr.nlm.nih.gov/gene/OTX2 |
SOD |
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abnormal formation of structures along the midline of the brain, and pituitary |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
Q04.4 |
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hypoplasia. |
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PROKR2 |
https://ghr.nlm.nih.gov/gene/PROKR2 |
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html:p |
The first major feature, optic nerve hypoplasia, is the underdevelopment of the |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D025962 |
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optic nerves, which carry visual information from the eyes to the brain. In |
SOX2 |
https://ghr.nlm.nih.gov/gene/SOX2 |
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affected individuals, the optic nerves are abnormally small and make fewer |
OMIM |
182230 |
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connections than usual between the eyes and the brain. As a result, people with |
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optic nerve hypoplasia have impaired vision in one or both eyes. Optic nerve |
Orphanet |
3157 |
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hypoplasia can also be associated with unusual side-to-side eye movements |
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(nystagmus) and other eye abnormalities. |
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SNOMED CT |
7611002 |
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html:p |
The second characteristic feature of septo-optic dysplasia is the abnormal |
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development of structures separating the right and left halves of the brain. |
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These structures include the corpus callosum, which is a band of tissue that |
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connects the two halves of the brain, and the septum pellucidum, which separates |
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the fluid-filled spaces called ventricles in the brain. In the early stages of |
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brain development, these structures may form abnormally or fail to develop at |
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all. Depending on which structures are affected, abnormal brain development can |
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lead to intellectual disability and other neurological problems. |
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html:p |
The third major feature of this disorder is pituitary hypoplasia. The pituitary |
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is a gland at the base of the brain that produces several hormones. These |
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hormones help control growth, reproduction, and other critical body functions. |
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Underdevelopment of the pituitary can lead to a shortage (deficiency) of many |
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essential hormones. Most commonly, pituitary hypoplasia causes growth hormone |
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deficiency, which results in slow growth and unusually short stature. Severe |
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cases cause panhypopituitarism, a condition in which the pituitary produces no |
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hormones. Panhypopituitarism is associated with slow growth, low blood sugar |
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(hypoglycemia), genital abnormalities, and problems with sexual development. |
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html:p |
The signs and symptoms of septo-optic dysplasia can vary significantly. Some |
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researchers suggest that septo-optic dysplasia should actually be considered a |
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group of related conditions rather than a single disorder. About one-third of |
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people diagnosed with septo-optic dysplasia have all three major features; most |
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affected individuals have two of the major features. In rare cases, septo-optic |
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dysplasia is associated with additional signs and symptoms, including recurrent |
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seizures (epilepsy), delayed development, and abnormal movements. |
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Severe combined immunodeficiency, SCID |
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嚴重複合型免疫缺乏症 |
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related-gene-list |
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Severe congenital neutropenia |
https://ghr.nlm.nih.gov/condition/severe-congenital-neutropenia |
The incidence of severe congenital neutropenia is estimated to be 1 in |
html:p |
Severe congenital neutropenia is a condition that causes affected individuals to |
ad |
autosomal dominant |
CSF3R |
https://ghr.nlm.nih.gov/gene/CSF3R |
congenital agranulocytosis |
db |
key |
2017-09 |
2017-12-29 |
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重症先天性中性白细胞减少 |
200,000 individuals. |
be prone to recurrent infections. People with this condition have a shortage |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
congenital neutropenia |
GTR |
C1845987 |
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(deficiency) of neutrophils, a type of white blood cell that plays a role in |
ar |
autosomal recessive |
ELANE |
https://ghr.nlm.nih.gov/gene/ELANE |
infantile genetic agranulocytosis |
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key |
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inflammation and in fighting infection. The deficiency of neutrophils, called |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
Kostmann disease |
GTR |
C1853118 |
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neutropenia, is apparent at birth or soon afterward. It leads to recurrent |
xr |
X-linked recessive |
G6PC3 |
https://ghr.nlm.nih.gov/gene/G6PC3 |
Kostmann's agranulocytosis |
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infections beginning in infancy, including infections of the sinuses, lungs, and |
related-gene |
gene-symbol |
ghr-page |
Kostmann's syndrome |
GTR |
C1859966 |
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liver. Affected individuals can also develop fevers and inflammation of the |
GFI1 |
https://ghr.nlm.nih.gov/gene/GFI1 |
severe infantile genetic neutropenia |
db |
key |
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gums (gingivitis) and skin. Approximately 40 percent of affected people have |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2675526 |
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decreased bone density (osteopenia) and may develop osteoporosis, a condition |
HAX1 |
https://ghr.nlm.nih.gov/gene/HAX1 |
db |
key |
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that makes bones progressively more brittle and prone to fracture. In people |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2751288 |
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with severe congenital neutropenia, these bone disorders can begin at any time |
JAGN1 |
https://ghr.nlm.nih.gov/gene/JAGN1 |
db |
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from infancy through adulthood. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3809031 |
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html:p |
Approximately 20 percent of people with severe congenital neutropenia develop |
TCIRG1 |
https://ghr.nlm.nih.gov/gene/TCIRG1 |
db |
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certain cancerous conditions of the blood, particularly myelodysplastic syndrome |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C4014954 |
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or leukemia during adolescence. |
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VPS45 |
https://ghr.nlm.nih.gov/gene/VPS45 |
db |
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html:p |
Some people with severe congenital neutropenia have additional health problems |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C4310764 |
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such as seizures, developmental delay, or heart and genital abnormalities. |
WAS |
https://ghr.nlm.nih.gov/gene/WAS |
db |
key |
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GTR |
CN032247 |
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db |
key |
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GeneReviews |
cyclic-n |
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db |
key |
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GeneReviews |
g6pc3-def |
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db |
key |
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GeneReviews |
was |
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db |
key |
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ICD-10-CM |
D70.0 |
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db |
key |
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MeSH |
D009503 |
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db |
key |
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OMIM |
202700 |
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db |
key |
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OMIM |
300299 |
|
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db |
key |
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OMIM |
610738 |
|
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db |
key |
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OMIM |
612541 |
|
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db |
key |
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OMIM |
613107 |
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db |
key |
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OMIM |
615285 |
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db |
key |
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OMIM |
616022 |
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db |
key |
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OMIM |
617014 |
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db |
key |
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Orphanet |
42738 |
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db |
key |
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SNOMED CT |
718882006 |
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db |
key |
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synonym-list |
db-key-list |
|
SNOMED CT |
89655007 |
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Sézary syndrome |
https://ghr.nlm.nih.gov/condition/sezary-syndrome |
Sézary syndrome is a rare condition, although its prevalence is unknown. It |
html:p |
Sézary syndrome is an aggressive form of a type of blood cancer called cutaneous |
u |
pattern unknown |
synonym |
Sezary syndrome |
key |
2017-12-29 |
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塞扎里綜合症 |
is the second most common form of cutaneous T-cell lymphoma after mycosis |
T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white blood |
synonym |
Sezary's lymphoma |
db-key |
C0036920 |
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fungoides, accounting for approximately 3 to 5 percent of cases of cutaneous |
cells, called T cells, become cancerous; these cancers characteristically affect |
key |
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T-cell lymphoma. |
the skin, causing different types of skin lesions. In Sézary syndrome, the |
db-key |
C84.1 |
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cancerous T cells, called Sézary cells, are present in the blood, skin, and |
key |
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lymph nodes. A characteristic of Sézary cells is an abnormally shaped nucleus, |
db-key |
C84.10 |
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described as cerebriform. |
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key |
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html:p |
People with Sézary syndrome develop a red, severely itchy rash (erythroderma) |
db-key |
C84.11 |
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that covers large portions of their body. Sézary cells are found in the rash. |
key |
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However, the skin cells themselves are not cancerous; the skin problems result |
db-key |
C84.12 |
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when Sézary cells move from the blood into the skin. People with Sézary syndrome |
key |
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also have enlarged lymph nodes (lymphadenopathy). Other common signs and |
db-key |
C84.13 |
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symptoms of this condition include hair loss (alopecia), skin swelling (edema), |
key |
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thickened skin on the palms of the hands and soles of the feet (palmoplantar |
db-key |
C84.14 |
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keratoderma), abnormalities of the fingernails and toenails, and lower eyelids |
key |
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that turn outward (ectropion). Some people with Sézary syndrome are less able to |
db-key |
C84.15 |
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control their body temperature than people without the condition. |
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The cancerous T cells can spread to other organs in the body, including the |
db-key |
C84.16 |
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lymph nodes, liver, spleen, and bone marrow. In addition, affected individuals |
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have an increased risk of developing another lymphoma or other type of cancer. |
db-key |
C84.17 |
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Sézary syndrome most often occurs in adults over age 60 and usually progresses |
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rapidly; historically, affected individuals survived an average of 2 to 4 years |
db-key |
C84.18 |
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after development of the condition, although survival has improved with newer |
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treatments. |
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db-key |
C84.19 |
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html:p |
Although Sézary syndrome is sometimes referred to as a variant of another |
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cutaneous T-cell lymphoma called mycosis fungoides, these two cancers are |
db-key |
D012751 |
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generally considered separate conditions. |
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db-key |
3162 |
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related-gene-list |
4950009 |
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Sheldon-Hall syndrome |
https://ghr.nlm.nih.gov/condition/sheldon-hall-syndrome |
The prevalence of Sheldon-Hall syndrome is unknown; however, it is thought |
html:p |
Sheldon-Hall syndrome, also known as distal arthrogryposis type 2B, is a |
ad |
autosomal dominant |
MYH3 |
https://ghr.nlm.nih.gov/gene/MYH3 |
arthrogryposis multiplex congenita, distal, type 2B |
db |
key |
2015-06 |
2017-12-29 |
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謝爾頓 - 霍爾綜合症 |
to be the most common type of distal arthrogryposis. About 100 affected |
disorder characterized by joint deformities (contractures) that restrict |
related-gene |
gene-symbol |
ghr-page |
DA2B |
GTR |
C1834523 |
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individuals have been described in the medical literature. |
movement in the hands and feet. The term "arthrogryposis" comes from the Greek |
TNNI2 |
https://ghr.nlm.nih.gov/gene/TNNI2 |
distal arthrogryposis type 2B |
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words for joint (arthro-) and crooked or hooked (gryposis). "Distal" refers to |
related-gene |
gene-symbol |
ghr-page |
SHS |
ICD-10-CM |
Q74.3 |
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areas of the body away from the center. The characteristic features of this |
TNNT3 |
https://ghr.nlm.nih.gov/gene/TNNT3 |
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condition include permanently bent fingers and toes (camptodactyly), overlapping |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D001176 |
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fingers, and a hand deformity called ulnar deviation in which all of the |
TPM2 |
https://ghr.nlm.nih.gov/gene/TPM2 |
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fingers are angled outward toward the fifth (pinky) finger. Inward- and |
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OMIM |
601680 |
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upward-turning feet (a condition called clubfoot) is also commonly seen in |
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Sheldon-Hall syndrome. The specific hand and foot abnormalities vary among |
Orphanet |
1147 |
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affected individuals; the abnormalities are present at birth and generally do |
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not get worse over time. |
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SNOMED CT |
715216008 |
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html:p |
People with Sheldon-Hall syndrome also usually have distinctive facial features, |
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which include a triangular face; outside corners of the eyes that point |
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downward (down-slanting palpebral fissures); deep folds in the skin between the |
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nose and lips (nasolabial folds); and a small mouth with a high, arched roof of |
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the mouth (palate). Other features that may occur in Sheldon-Hall syndrome |
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include extra folds of skin on the neck (webbed neck) and short stature. |
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html:p |
Sheldon-Hall syndrome does not usually affect other parts of the body, and |
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intelligence and life expectancy are normal in this disorder. |
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related-gene-list |
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Short/branched chain acyl-CoA dehydrogenase deficiency |
https://ghr.nlm.nih.gov/condition/short-branched-chain-acyl-coa-dehydrogenase-de |
SBCAD deficiency is a rare condition; its worldwide prevalence is unknown. |
html:p |
Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency (also known as |
ar |
autosomal recessive |
ACADSB |
https://ghr.nlm.nih.gov/gene/ACADSB |
2-MBADD |
db |
key |
2017-02 |
2017-12-29 |
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ficiency |
This condition is most common among Hmong populations in Southeast Asia and in |
2-methylbutyryl-CoA dehydrogenase deficiency) is a rare disorder in which the |
2-MBCD deficiency |
GTR |
C1864912 |
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people of Hmong descent, affecting 1 in 250 to 1 in 500 people in these |
body is unable to process proteins properly. Normally, the body breaks down |
2-MBG |
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communities. These individuals do not usually develop health problems related to |
proteins from food into smaller parts called amino acids. Amino acids can be |
2-methylbutyryl-CoA dehydrogenase deficiency |
MeSH |
D000592 |
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the condition. |
further processed to provide energy for the body. People with SBCAD deficiency |
2-methylbutyryl-coenzyme A dehydrogenase deficiency |
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cannot process a particular amino acid called isoleucine. |
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2-methylbutyryl glycinuria |
OMIM |
610006 |
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html:p |
Most cases of SBCAD deficiency are detected shortly after birth by newborn |
SBCADD |
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screening, which identifies abnormal levels of certain compounds in the blood. |
short/branched-chain acyl-CoA dehydrogenase deficiency |
Orphanet |
79157 |
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In individuals with this condition, a compound called 2-methylbutyryl carnitine |
db |
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is elevated in the blood and another called 2-methylbutyrylglycine is elevated |
SNOMED CT |
444838008 |
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in the urine (2-methylbutyrylglycinuria). |
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html:p |
Most people with SBCAD deficiency have no health problems related to the |
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disorder. A small percentage of affected individuals develop signs and symptoms |
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of the condition, which can begin soon after birth or later in childhood. The |
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initial symptoms often include poor feeding, lack of energy (lethargy), |
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vomiting, and irritability. These symptoms sometimes progress to serious health |
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problems such as difficulty breathing, seizures, and coma. Additional problems |
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can include poor growth, vision impairment, learning disabilities, muscle |
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weakness, and delays in motor skills such as standing and walking. |
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html:p |
It is unclear why some people with SBCAD deficiency develop health problems and |
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others do not. Doctors suggest that in some cases, signs and symptoms may be |
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triggered by infections, prolonged periods without food (fasting), or an |
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increased amount of protein-rich foods in the diet. |
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related-gene-list |
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Short-chain acyl-CoA dehydrogenase deficiency |
https://ghr.nlm.nih.gov/condition/short-chain-acyl-coa-dehydrogenase-deficiency |
This disorder is thought to affect approximately 1 in 35,000 to 50,000 |
html:p |
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that |
ar |
autosomal recessive |
ACADS |
https://ghr.nlm.nih.gov/gene/ACADS |
ACADS deficiency |
db |
key |
2015-05 |
2017-12-29 |
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短鏈脂肪酸去氫酵素缺乏症 |
newborns. |
prevents the body from converting certain fats into energy, especially during |
deficiency of butyryl-CoA dehydrogenase |
GTR |
C0342783 |
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periods without food (fasting). |
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lipid-storage myopathy secondary to short-chain acyl-coa dehydrogenase |
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html:p |
Signs and symptoms of SCAD deficiency may appear during infancy or early |
deficiency |
GeneReviews |
scad |
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childhood and can include vomiting, low blood sugar (hypoglycemia), a lack of |
SCAD deficiency |
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energy (lethargy), poor feeding, and failure to gain weight and grow at the |
SCADH deficiency |
ICD-10-CM |
E71.312 |
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expected rate (failure to thrive). Other features of this disorder may include |
short-chain acyl-coenzyme A dehydrogenase deficiency |
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poor muscle tone (hypotonia), seizures, developmental delay, and a small head |
MeSH |
D008052 |
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size (microcephaly). |
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db |
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html:p |
The symptoms of SCAD deficiency may be triggered by fasting or illnesses such as |
OMIM |
201470 |
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viral infections. This disorder is sometimes mistaken for Reye syndrome, a |
db |
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severe condition that may develop in children while they appear to be recovering |
Orphanet |
26792 |
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from viral infections such as chicken pox or flu. Most cases of Reye syndrome |
db |
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are associated with the use of aspirin during these viral infections. |
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SNOMED CT |
124166007 |
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html:p |
In some people with SCAD deficiency, signs and symptoms do not appear until |
db |
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adulthood. These individuals are more likely to have problems related to muscle |
SNOMED CT |
237998000 |
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weakness and wasting. |
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html:p |
The severity of this condition varies widely, even among members of the same |
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family. Some individuals are diagnosed with SCAD deficiency based on laboratory |
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testing but never develop any symptoms of the condition. |
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related-gene-list |
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Short QT syndrome |
https://ghr.nlm.nih.gov/condition/short-qt-syndrome |
Short QT syndrome appears to be rare. At least 70 cases have been |
html:p |
Short QT syndrome is a condition that can cause a disruption of the heart's |
ad |
autosomal dominant |
KCNH2 |
https://ghr.nlm.nih.gov/gene/KCNH2 |
SQTS |
db |
key |
2013-06 |
2017-12-29 |
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短QT綜合徵 |
identified worldwide since the condition was discovered in 2000. However, the |
normal rhythm (arrhythmia). In people with this condition, the heart (cardiac) |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1865018 |
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condition may be underdiagnosed because some affected individuals never |
muscle takes less time than usual to recharge between beats. The term "short QT" |
KCNJ2 |
https://ghr.nlm.nih.gov/gene/KCNJ2 |
db |
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experience symptoms. |
refers to a specific pattern of heart activity that is detected with an |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1865019 |
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electrocardiogram (EKG), which is a test used to measure the electrical activity |
KCNQ1 |
https://ghr.nlm.nih.gov/gene/KCNQ1 |
db |
key |
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of the heart. In people with this condition, the part of the heartbeat known as |
GTR |
C1865020 |
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the QT interval is abnormally short. |
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db |
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html:p |
If untreated, the arrhythmia associated with short QT syndrome can lead to a |
MeSH |
D001145 |
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variety of signs and symptoms, from dizziness and fainting (syncope) to cardiac |
db |
key |
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arrest and sudden death. These signs and symptoms can occur any time from early |
OMIM |
609620 |
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infancy to old age. This condition may explain some cases of sudden infant death |
db |
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syndrome (SIDS), which is a major cause of unexplained death in babies younger |
OMIM |
609621 |
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than 1 year. However, some people with short QT syndrome never experience any |
db |
key |
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health problems associated with the condition. |
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OMIM |
609622 |
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db |
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Orphanet |
51083 |
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db |
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related-gene-list |
|
SNOMED CT |
698272007 |
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Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, |
https://ghr.nlm.nih.gov/condition/short-stature-hyperextensibility-hernia-ocular |
SHORT syndrome is a rare condition; its prevalence is unknown. Only a few |
html:p |
Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, |
ad |
autosomal dominant |
PIK3R1 |
https://ghr.nlm.nih.gov/gene/PIK3R1 |
growth retardation-Rieger anomaly |
db |
key |
2013-12 |
2017-12-29 |
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and teething delay |
-depression-rieger-anomaly-and-teething-delay |
affected individuals and families have been reported worldwide. |
and teething delay, commonly known by the acronym SHORT syndrome, is a rare |
lipodystrophy, partial, with Rieger anomaly and short stature |
GTR |
C0878684 |
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disorder that affects many parts of the body. |
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short stature-hyperextensibility-Rieger anomaly-teething delay |
db |
key |
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html:p |
Most people with SHORT syndrome are small at birth and gain weight slowly in |
SHORT syndrome |
GeneReviews |
short |
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childhood. Affected adults tend to have short stature compared with others in |
db |
key |
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their family. Many have a lack of fatty tissue under the skin (lipoatrophy), |
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MeSH |
D006130 |
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primarily in the face, arms, and chest. This lack of fat, together with thin, |
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db |
key |
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wrinkled skin and veins visible beneath the skin, makes affected individuals |
OMIM |
269880 |
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look older than their biological age. This appearance of premature aging is |
db |
key |
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sometimes described as progeroid. |
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Orphanet |
3163 |
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html:p |
Most people with SHORT syndrome have distinctive facial features. These include |
db |
key |
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a triangular face shape with a prominent forehead and deep-set eyes (ocular |
SNOMED CT |
237608006 |
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depression), thin nostrils, a downturned mouth, and a small chin. Eye |
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abnormalities are common in affected individuals, particularly Rieger anomaly, |
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which affects structures at the front of the eye. Rieger anomaly can be |
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associated with increased pressure in the eye (glaucoma) and vision loss. Some |
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people with SHORT syndrome also have dental abnormalities such as delayed |
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appearance (eruption) of teeth in early childhood, small teeth, fewer teeth than |
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normal (hypodontia), and a lack of protective covering (enamel) on the surface |
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of the teeth. |
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html:p |
Other signs and symptoms that have been reported in people with SHORT syndrome |
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include immune system abnormalities, a kidney disorder known as |
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nephrocalcinosis, hearing loss, loose (hyperextensible) joints, and a soft |
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out-pouching in the lower abdomen called an inguinal hernia. A few affected |
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individuals have developed problems with blood sugar regulation including |
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insulin resistance and diabetes. Most people with SHORT syndrome have normal |
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intelligence, although a few have been reported with mild cognitive impairment |
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or delayed development of speech in childhood. |
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related-gene-list |
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Shprintzen-Goldberg syndrome |
https://ghr.nlm.nih.gov/condition/shprintzen-goldberg-syndrome |
Shprintzen-Goldberg syndrome is a rare condition, although its prevalence |
html:p |
Shprintzen-Goldberg syndrome is a disorder that affects many parts of the body. |
ad |
autosomal dominant |
FBN1 |
https://ghr.nlm.nih.gov/gene/FBN1 |
Marfanoid-craniosynostosis syndrome |
db |
key |
2016-05 |
2017-12-29 |
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Shprintzen-Goldberg綜合症 |
is unknown. It is difficult to identify the number of affected individuals, |
Affected individuals have a combination of distinctive facial features and |
related-gene |
gene-symbol |
ghr-page |
Shprintzen-Goldberg craniosynostosis syndrome |
GTR |
C1321551 |
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because some cases diagnosed as Shprintzen-Goldberg syndrome may instead be |
skeletal and neurological abnormalities. |
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SKI |
https://ghr.nlm.nih.gov/gene/SKI |
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Marfan syndrome or Loeys-Dietz syndrome, which have overlapping signs and |
html:p |
A common feature in people with Shprintzen-Goldberg syndrome is |
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GeneReviews |
sgs |
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symptoms. |
craniosynostosis, which is the premature fusion of certain skull bones. This |
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early fusion prevents the skull from growing normally. Affected individuals can |
MeSH |
D003398 |
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also have distinctive facial features, including a long, narrow head; widely |
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spaced eyes (hypertelorism); protruding eyes (exophthalmos); outside corners of |
OMIM |
182212 |
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the eyes that point downward (downslanting palpebral fissures); a high, narrow |
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palate; a small lower jaw (micrognathia); and low-set ears that are rotated |
Orphanet |
2462 |
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backward. |
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key |
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html:p |
People with Shprintzen-Goldberg syndrome are often said to have a marfanoid |
SNOMED CT |
719069008 |
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habitus, because their bodies resemble those of people with a genetic condition |
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called Marfan syndrome. For example, they may have long, slender fingers |
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(arachnodactyly), unusually long limbs, a sunken chest (pectus excavatum) or |
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protruding chest (pectus carinatum), and an abnormal side-to-side curvature of |
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the spine (scoliosis). People with Shprintzen-Goldberg syndrome can have other |
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skeletal abnormalities, such as one or more fingers that are permanently bent |
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(camptodactyly) and an unusually large range of joint movement (hypermobility). |
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html:p |
People with Shprintzen-Goldberg syndrome often have delayed development and mild |
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to moderate intellectual disability. |
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html:p |
Other common features of Shprintzen-Goldberg syndrome include heart or brain |
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abnormalities, weak muscle tone (hypotonia) in infancy, and a soft out-pouching |
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around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). |
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html:p |
Shprintzen-Goldberg syndrome has signs and symptoms similar to those of Marfan |
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syndrome and another genetic condition called Loeys-Dietz syndrome. However, |
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intellectual disability is more likely to occur in Shprintzen-Goldberg syndrome |
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than in the other two conditions. In addition, heart abnormalities are more |
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common and usually more severe in Marfan syndrome and Loeys-Dietz syndrome. |
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related-gene-list |
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Shwachman-Diamond syndrome |
https://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome |
Researchers are not sure how common Shwachman-Diamond syndrome is. Several |
html:p |
Shwachman-Diamond syndrome is an inherited condition that affects many parts of |
ar |
autosomal recessive |
SBDS |
https://ghr.nlm.nih.gov/gene/SBDS |
Congenital Lipomatosis of Pancreas |
db |
key |
2007-12 |
2017-12-29 |
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Shwachman-Diamond綜合症 |
hundred cases have been reported in scientific studies. |
the body, particularly the bone marrow, pancreas, and skeletal system. |
Metaphyseal chondrodysplasia, Shwachman type |
GTR |
C0272170 |
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html:p |
The major function of bone marrow is to produce new blood cells. These include |
SDS |
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red blood cells, which carry oxygen to the body's tissues; white blood cells, |
Shwachman-Bodian-Diamond syndrome |
GeneReviews |
sds |
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which fight infection; and platelets, which are blood cell fragments that are |
Shwachman-Bodian syndrome |
db |
key |
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necessary for normal blood clotting. In Shwachman-Diamond syndrome, the bone |
Shwachman-Diamond-Oski Syndrome |
MeSH |
D001855 |
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marrow malfunctions and does not make some or all types of white blood cells. A |
Shwachman syndrome |
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shortage of neutrophils, the most common type of white blood cell, causes a |
MeSH |
D010188 |
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condition called neutropenia. Most people with Shwachman-Diamond syndrome have |
db |
key |
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at least occasional episodes of neutropenia, which makes them more vulnerable to |
OMIM |
260400 |
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infections such as pneumonia, recurrent ear infections (otitis media), and skin |
db |
key |
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infections. Less commonly, bone marrow abnormalities lead to a shortage of red |
Orphanet |
811 |
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blood cells (anemia), which causes fatigue and weakness, or a reduction in the |
db |
key |
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amount of platelets (thrombocytopenia), which can result in easy bruising and |
SNOMED CT |
89454001 |
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abnormal bleeding. |
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People with Shwachman-Diamond syndrome have an increased risk of several serious |
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complications related to their malfunctioning bone marrow. Specifically, they |
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have a higher-than-average chance of developing myelodysplastic syndrome (MDS) |
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and aplastic anemia, which are disorders that affect blood cell production, and |
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a cancer of blood-forming tissue known as acute myeloid leukemia (AML). |
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Shwachman-Diamond syndrome also affects the pancreas, which is an organ that |
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plays an essential role in digestion. One of this organ's main functions is to |
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produce enzymes that help break down and use the nutrients from food. In most |
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infants with Shwachman-Diamond syndrome, the pancreas does not produce enough of |
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these enzymes. This condition is known as pancreatic insufficiency. Infants |
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with pancreatic insufficiency have trouble digesting food and absorbing |
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nutrients that are needed for growth. As a result, they often have fatty, |
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foul-smelling stools (steatorrhea); are slow to grow and gain weight (failure to |
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thrive); and experience malnutrition. Pancreatic insufficiency often improves |
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with age in people with Shwachman-Diamond syndrome. |
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Skeletal abnormalities are another common feature of Shwachman-Diamond syndrome. |
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Many affected individuals have problems with bone formation and growth, most |
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often affecting the hips and knees. Low bone density is also frequently |
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associated with this condition. Some infants are born with a narrow rib cage |
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and short ribs, which can cause life-threatening problems with breathing. The |
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combination of skeletal abnormalities and slow growth results in short stature |
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in most people with this disorder. |
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The complications of this condition can affect several other parts of the body, |
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including the liver, heart, endocrine system (which produces hormones), eyes, |
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teeth, and skin. Additionally, studies suggest that Shwachman-Diamond syndrome |
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may be associated with delayed speech and the delayed development of motor |
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skills such as sitting, standing, and walking. |
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related-gene-list |
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Sialic acid storage disease |
https://ghr.nlm.nih.gov/condition/sialic-acid-storage-disease |
Sialic acid storage disease is a very rare disorder. ISSD has been |
html:p |
Sialic acid storage disease is an inherited disorder that primarily affects the |
ar |
autosomal recessive |
SLC17A5 |
https://ghr.nlm.nih.gov/gene/SLC17A5 |
free sialic acid storage disease |
db |
key |
2008-02 |
2017-12-29 |
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identified in only a few dozen infants worldwide. Salla disease occurs mainly in |
nervous system. People with sialic acid storage disease have signs and symptoms |
N-acetylneuraminic acid storage disease |
GTR |
C1096902 |
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Finland and Sweden and has been reported in approximately 150 people. A few |
that may vary widely in severity. This disorder is generally classified into one |
NANA storage disease |
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individuals have been identified as having intermediate severe Salla disease. |
of three forms: infantile free sialic acid storage disease, Salla disease, and |
sialuria, Finnish type |
GTR |
C1096903 |
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intermediate severe Salla disease. |
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html:p |
Infantile free sialic acid storage disease (ISSD) is the most severe form of |
GeneReviews |
issd |
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this disorder. Babies with this condition have severe developmental delay, weak |
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muscle tone (hypotonia), and failure to gain weight and grow at the expected |
MeSH |
D029461 |
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rate (failure to thrive). They may have unusual facial features that are often |
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described as "coarse," seizures, bone malformations, an enlarged liver and |
OMIM |
269920 |
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spleen (hepatosplenomegaly), and an enlarged heart (cardiomegaly). The abdomen |
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may be swollen due to the enlarged organs and an abnormal buildup of fluid in |
OMIM |
604369 |
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the abdominal cavity (ascites). Affected infants may have a condition called |
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hydrops fetalis in which excess fluid accumulates in the body before birth. |
Orphanet |
834 |
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Children with this severe form of the condition usually live only into early |
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childhood. |
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SNOMED CT |
238051008 |
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html:p |
Salla disease is a less severe form of sialic acid storage disease. Babies with |
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Salla disease usually begin exhibiting hypotonia during the first year of life |
SNOMED CT |
34566007 |
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and go on to experience progressive neurological problems. Signs and symptoms of |
db |
key |
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Salla disease include intellectual disability and developmental delay, |
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SNOMED CT |
87074006 |
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seizures, problems with movement and balance (ataxia), abnormal tensing of the |
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muscles (spasticity), and involuntary slow, sinuous movements of the limbs |
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(athetosis). Individuals with Salla disease usually survive into adulthood. |
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html:p |
People with intermediate severe Salla disease have signs and symptoms that fall |
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between those of ISSD and Salla disease in severity. |
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related-gene-list |
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Sialidosis |
https://ghr.nlm.nih.gov/condition/sialidosis |
The overall prevalence of sialidosis is unknown. Sialidosis type I appears |
html:p |
Sialidosis is a severe inherited disorder that affects many organs and tissues, |
ar |
autosomal recessive |
NEU1 |
https://ghr.nlm.nih.gov/gene/NEU1 |
cherry red spot myoclonus syndrome |
db |
key |
2010-05 |
2017-12-29 |
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涎酸酵素缺乏症 |
to be more common in people with Italian ancestry. |
including the nervous system. This disorder is divided into two types, which are |
mucolipidosis I |
GTR |
C0268226 |
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distinguished by the age at which symptoms appear and the severity of features. |
mucolipidosis type I |
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html:p |
Sialidosis type I, also referred to as cherry-red spot myoclonus syndrome, is |
myoclonus cherry red spot syndrome |
GTR |
C0268228 |
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the less severe form of this condition. People with type I develop signs and |
db |
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symptoms of sialidosis in their teens or twenties. Initially, affected |
MeSH |
D009081 |
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individuals experience problems walking (gait disturbance) and/or a loss of |
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sharp vision (reduced visual acuity). Individuals with sialidosis type I also |
OMIM |
256550 |
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experience muscle twitches (myoclonus), difficulty coordinating movements |
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(ataxia), leg tremors, and seizures. The myoclonus worsens over time, causing |
Orphanet |
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difficulty sitting, standing, or walking. People with sialidosis type I |
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eventually require wheelchair assistance. Affected individuals have progressive |
Orphanet |
87876 |
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vision problems, including impaired color vision or night blindness. An eye |
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abnormality called a cherry-red spot, which can be identified with an eye |
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SNOMED CT |
124461006 |
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examination, is characteristic of this disorder. Sialidosis type I does not |
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affect intelligence or life expectancy. |
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SNOMED CT |
34960006 |
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html:p |
Sialidosis type II, the more severe type of the disorder, is further divided |
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into congenital, infantile, and juvenile forms. The features of congenital |
SNOMED CT |
38795005 |
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sialidosis type II can develop before birth. This form of sialidosis is |
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associated with an abnormal buildup of fluid in the abdominal cavity (ascites) |
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or widespread swelling before birth caused by fluid accumulation (hydrops |
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fetalis). Affected infants may also have an enlarged liver and spleen |
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(hepatosplenomegaly), abnormal bone development (dysostosis multiplex), and |
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distinctive facial features that are often described as "coarse." As a result |
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of these serious health problems, individuals with congenital sialidosis type II |
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usually are stillborn or die soon after birth. |
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html:p |
Infantile sialidosis type II shares some features with the congenital form, |
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although the signs and symptoms are slightly less severe and begin within the |
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first year of life. Features of the infantile form include hepatosplenomegaly, |
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dysostosis multiplex, "coarse" facial features, short stature, and intellectual |
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disability. As children with infantile sialidosis type II get older, they may |
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develop myoclonus and cherry-red spots. Other signs and symptoms include hearing |
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loss, overgrowth of the gums (gingival hyperplasia), and widely spaced teeth. |
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Affected individuals may survive into childhood or adolescence. |
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html:p |
The juvenile form has the least severe signs and symptoms of the different forms |
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of sialidosis type II. Features of this condition usually appear in late |
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childhood and may include mildly "coarse" facial features, mild bone |
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abnormalities, cherry-red spots, myoclonus, intellectual disability, and dark |
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red spots on the skin (angiokeratomas). The life expectancy of individuals with |
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juvenile sialidosis type II varies depending on the severity of symptoms. |
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related-gene-list |
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Sialuria |
https://ghr.nlm.nih.gov/condition/sialuria |
Fewer than 10 people worldwide have been diagnosed with sialuria. There are |
html:p |
Sialuria is a rare disorder that has variable effects on development. Affected |
ad |
autosomal dominant |
GNE |
https://ghr.nlm.nih.gov/gene/GNE |
French type sialuria |
db |
key |
2008-12 |
2017-12-29 |
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唾液酸尿症 |
probably more people with the disorder who have not been diagnosed, as sialuria |
infants are often born with a yellow tint to the skin and the whites of the eyes |
Sialuria, French type |
GTR |
C0342853 |
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can be difficult to detect because of its variable features. |
(neonatal jaundice), an enlarged liver and spleen (hepatosplenomegaly), and |
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unusually small red blood cells (microcytic anemia). They may develop a |
GeneReviews |
sft |
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somewhat flat face and distinctive-looking facial features that are described as |
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"coarse." Temporarily delayed development and weak muscle tone (hypotonia) have |
MeSH |
D008661 |
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also been reported. |
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html:p |
Young children with sialuria tend to have frequent upper respiratory infections |
OMIM |
269921 |
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and episodes of dehydration and stomach upset (gastroenteritis). Older children |
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may have seizures and learning difficulties. In some affected children, |
|
Orphanet |
3166 |
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intellectual development is nearly normal. |
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html:p |
The features of sialuria vary widely among affected people. Many of the |
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SNOMED CT |
238051008 |
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problems associated with this disorder appear to improve with age, although |
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little is known about the long-term effects of the disease. It is likely that |
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some adults with sialuria never come to medical attention because they have very |
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mild signs and symptoms or no health problems related to the condition. |
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related-gene-list |
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Sick sinus syndrome |
https://ghr.nlm.nih.gov/condition/sick-sinus-syndrome |
Sick sinus syndrome accounts for 1 in 600 patients with heart disease who |
html:p |
Sick sinus syndrome (also known as sinus node dysfunction) is a group of related |
ad |
autosomal dominant |
HCN4 |
https://ghr.nlm.nih.gov/gene/HCN4 |
sinus node disease |
db |
key |
2013-08 |
2017-12-29 |
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病竇症候群 |
are over age 65. The incidence of this condition increases with age. |
heart conditions that can affect how the heart beats. "Sick sinus" refers to |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
sinus node dysfunction |
GTR |
C1834144 |
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the sino-atrial (SA) node, which is an area of specialized cells in the heart |
ar |
autosomal recessive |
MYH6 |
https://ghr.nlm.nih.gov/gene/MYH6 |
SND |
db |
key |
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that functions as a natural pacemaker. The SA node generates electrical impulses |
related-gene |
gene-symbol |
ghr-page |
SSS |
GTR |
C1837845 |
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that start each heartbeat. These signals travel from the SA node to the rest of |
SCN5A |
https://ghr.nlm.nih.gov/gene/SCN5A |
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the heart, signaling the heart (cardiac) muscle to contract and pump blood. In |
GTR |
C3279791 |
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people with sick sinus syndrome, the SA node does not function normally. In some |
db |
key |
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cases, it does not produce the right signals to trigger a regular heartbeat. In |
ICD-10-CM |
I49.5 |
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others, abnormalities disrupt the electrical impulses and prevent them from |
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reaching the rest of the heart. |
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MeSH |
D012804 |
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html:p |
Sick sinus syndrome tends to cause the heartbeat to be too slow (bradycardia), |
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although occasionally the heartbeat is too fast (tachycardia). In some cases, |
OMIM |
163800 |
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the heartbeat rapidly switches from being too fast to being too slow, a |
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condition known as tachycardia-bradycardia syndrome. Symptoms related to |
OMIM |
608567 |
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abnormal heartbeats can include dizziness, light-headedness, fainting (syncope), |
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a sensation of fluttering or pounding in the chest (palpitations), and |
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OMIM |
614090 |
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confusion or memory problems. During exercise, many affected individuals |
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experience chest pain, difficulty breathing, or excessive tiredness (fatigue). |
Orphanet |
166282 |
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Once symptoms of sick sinus syndrome appear, they usually worsen with time. |
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However, some people with the condition never experience any related health |
SNOMED CT |
233913007 |
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problems. |
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html:p |
Sick sinus syndrome occurs most commonly in older adults, although it can be |
SNOMED CT |
36083008 |
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diagnosed in people of any age. The condition increases the risk of several |
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life-threatening problems involving the heart and blood vessels. These include a |
SNOMED CT |
60423000 |
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heart rhythm abnormality called atrial fibrillation, heart failure, cardiac |
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arrest, and stroke. |
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related-gene-list |
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Sickle cell disease |
https://ghr.nlm.nih.gov/condition/sickle-cell-disease |
Sickle cell disease affects millions of people worldwide. It is most |
html:p |
Sickle cell disease is a group of disorders that affects hemoglobin, the |
ar |
autosomal recessive |
HBB |
https://ghr.nlm.nih.gov/gene/HBB |
HbS disease |
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2012-08 |
2017-12-29 |
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鐮刀型紅血球疾病 |
common among people whose ancestors come from Africa; Mediterranean countries |
molecule in red blood cells that delivers oxygen to cells throughout the body. |
Hemoglobin S Disease |
GTR |
C0002895 |
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such as Greece, Turkey, and Italy; the Arabian Peninsula; India; and |
People with this disorder have atypical hemoglobin molecules called hemoglobin |
SCD |
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Spanish-speaking regions in South America, Central America, and parts of the |
S, which can distort red blood cells into a sickle, or crescent, shape. |
Sickle cell disorders |
GeneReviews |
sickle |
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Caribbean.Sickle cell disease is the most common inherited blood disorder in the |
html:p |
Signs and symptoms of sickle cell disease usually begin in early childhood. |
Sickling disorder due to hemoglobin S |
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United States, affecting 70,000 to 80,000 Americans. The disease is estimated |
Characteristic features of this disorder include a low number of red blood cells |
ICD-10-CM |
D57 |
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to occur in 1 in 500 African Americans and 1 in 1,000 to 1,400 Hispanic |
(anemia), repeated infections, and periodic episodes of pain. The severity of |
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Americans. |
symptoms varies from person to person. Some people have mild symptoms, while |
ICD-10-CM |
D57.0 |
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others are frequently hospitalized for more serious complications. |
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html:p |
The signs and symptoms of sickle cell disease are caused by the sickling of red |
ICD-10-CM |
D57.00 |
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blood cells. When red blood cells sickle, they break down prematurely, which |
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can lead to anemia. Anemia can cause shortness of breath, fatigue, and delayed |
ICD-10-CM |
D57.01 |
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growth and development in children. The rapid breakdown of red blood cells may |
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also cause yellowing of the eyes and skin, which are signs of jaundice. Painful |
ICD-10-CM |
D57.1 |
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episodes can occur when sickled red blood cells, which are stiff and |
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inflexible, get stuck in small blood vessels. These episodes deprive tissues |
ICD-10-CM |
D57.02 |
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and organs of oxygen-rich blood and can lead to organ damage, especially in the |
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lungs, kidneys, spleen, and brain. A particularly serious complication of |
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ICD-10-CM |
D57.2 |
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sickle cell disease is high blood pressure in the blood vessels that supply the |
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lungs (pulmonary hypertension). Pulmonary hypertension occurs in about |
ICD-10-CM |
D57.3 |
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one-third of adults with sickle cell disease and can lead to heart failure. |
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ICD-10-CM |
D57.4 |
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ICD-10-CM |
D57.8 |
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ICD-10-CM |
D57.20 |
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ICD-10-CM |
D57.21 |
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ICD-10-CM |
D57.40 |
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ICD-10-CM |
D57.41 |
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db |
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ICD-10-CM |
D57.80 |
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db |
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ICD-10-CM |
D57.81 |
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ICD-10-CM |
D57.211 |
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db |
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ICD-10-CM |
D57.212 |
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db |
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ICD-10-CM |
D57.219 |
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ICD-10-CM |
D57.411 |
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ICD-10-CM |
D57.412 |
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ICD-10-CM |
D57.419 |
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ICD-10-CM |
D57.811 |
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ICD-10-CM |
D57.812 |
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db |
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ICD-10-CM |
D57.819 |
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MeSH |
D000755 |
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db |
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OMIM |
603903 |
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db |
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Orphanet |
232 |
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db |
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SNOMED CT |
127041004 |
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db |
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SNOMED CT |
127045008 |
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SNOMED CT |
416180004 |
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SNOMED CT |
417357006 |
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db |
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related-gene-list |
|
SNOMED CT |
417425009 |
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Silver syndrome |
https://ghr.nlm.nih.gov/condition/silver-syndrome |
Although Silver syndrome appears to be a rare condition, its exact |
html:p |
Silver syndrome belongs to a group of genetic disorders known as hereditary |
ad |
autosomal dominant |
BSCL2 |
https://ghr.nlm.nih.gov/gene/BSCL2 |
Silver spastic paraplegia syndrome |
db |
key |
2012-02 |
2017-12-29 |
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prevalence is unknown. |
spastic paraplegias. These disorders are characterized by progressive muscle |
spastic paraplegia 17 |
GTR |
CN074197 |
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stiffness (spasticity) and, frequently, development of paralysis of the lower |
spastic paraplegia with amyotrophy of hands and feet |
db |
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limbs (paraplegia). Hereditary spastic paraplegias (痙攣性下半身麻痺) are divided into two types: |
SPG17 |
GeneReviews |
hsp |
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pure and complex. Both types involve the lower limbs; the complex types may also |
db |
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involve the upper limbs, although to a lesser degree. In addition, the complex |
GeneReviews |
spg17 |
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types may affect the brain and parts of the nervous system involved in muscle |
db |
key |
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movement and sensations. Silver syndrome is a complex hereditary spastic |
ICD-10-CM |
G11.4 |
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paraplegia. |
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db |
key |
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html:p |
The first sign of Silver syndrome is usually weakness in the muscles of the |
MeSH |
D015419 |
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hands. These muscles waste away (amyotrophy), resulting in abnormal positioning |
db |
key |
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of the thumbs and difficulty using the fingers and hands for tasks such as |
Orphanet |
100998 |
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handwriting. People with Silver syndrome often have high-arched feet (pes cavus) |
db |
key |
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and spasticity in the legs. The signs and symptoms of Silver syndrome typically |
SNOMED CT |
230261006 |
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begin in late childhood but can start anytime from early childhood to late |
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db |
key |
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adulthood. The muscle problems associated with Silver syndrome slowly worsen |
SNOMED CT |
39912006 |
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with age, but affected individuals can remain active throughout life. |
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related-gene-list |
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Simpson-Golabi-Behmel syndrome |
https://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome |
The incidence of Simpson-Golabi-Behmel syndrome is unknown. At least 250 |
html:p |
Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the |
x |
X-linked |
|
GPC3 |
https://ghr.nlm.nih.gov/gene/GPC3 |
DGSX |
db |
key |
2017-07 |
2017-12-29 |
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SimpsonGolabiBehmel 症候群 |
people worldwide have been diagnosed with this disorder. |
body and occurs primarily in males. This condition is classified as an |
related-gene |
gene-symbol |
ghr-page |
mental retardation-overgrowth syndrome |
GTR |
C0796154 |
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overgrowth syndrome, which means that affected infants are considerably larger |
GPC4 |
https://ghr.nlm.nih.gov/gene/GPC4 |
SDYS |
db |
key |
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than normal at birth (macrosomia) and continue to grow and gain weight at an |
related-gene |
gene-symbol |
ghr-page |
SGBS |
GTR |
C1846175 |
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unusual rate. The other signs and symptoms of Simpson-Golabi-Behmel syndrome |
OFD1 |
https://ghr.nlm.nih.gov/gene/OFD1 |
SGBS1 |
db |
key |
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vary widely. People with mild cases often live into adulthood. |
related-gene |
gene-symbol |
ghr-page |
Simpson dysplasia syndrome |
GeneReviews |
sgbs |
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html:p |
People with Simpson-Golabi-Behmel syndrome have distinctive facial features |
PIGA |
https://ghr.nlm.nih.gov/gene/PIGA |
Simpson-Golabi-Behmel syndrome type 1 |
db |
key |
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including widely spaced eyes (ocular hypertelorism), an unusually large mouth |
Simpson syndrome |
MeSH |
D000015 |
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(macrostomia), a large tongue (macroglossia) that may have a deep groove or |
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furrow down the middle, a broad nose with an upturned tip, and abnormalities |
MeSH |
D005877 |
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affecting the roof of the mouth (the palate). The facial features are often |
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key |
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described as "coarse" in older children and adults with this condition. |
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OMIM |
300209 |
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html:p |
Other features of Simpson-Golabi-Behmel syndrome involve the chest and abdomen. |
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Affected infants may be born with one or more extra nipples, an abnormal opening |
OMIM |
312870 |
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in the muscle covering the abdomen (diastasis recti), a soft out-pouching |
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around the belly-button (an umbilical hernia), or a hole in the diaphragm (a |
Orphanet |
373 |
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diaphragmatic hernia) that allows the stomach and intestines to move into the |
db |
key |
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chest and crowd the developing heart and lungs. |
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Orphanet |
79022 |
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html:p |
Simpson-Golabi-Behmel syndrome can also cause heart defects, malformed or |
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abnormally large kidneys, an enlarged liver and spleen (hepatosplenomegaly), and |
SNOMED CT |
439143004 |
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skeletal abnormalities. Additionally, the syndrome can affect the development |
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of the gastrointestinal system, urinary system, and genitalia. Some people with |
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this condition have mild to severe intellectual disability, while others have |
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normal intelligence. |
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html:p |
About 10 percent of people with Simpson-Golabi-Behmel syndrome develop cancerous |
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or noncancerous tumors in early childhood. The most common tumors are a rare |
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form of kidney cancer called Wilms tumor and a cancerous tumor called a |
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neuroblastoma that arises from developing nerve cells. |
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related-gene-list |
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Sitosterolemia |
https://ghr.nlm.nih.gov/condition/sitosterolemia |
Only 80 to 100 individuals with sitosterolemia have been described in the |
html:p |
Sitosterolemia is a condition in which fatty substances (lipids) from vegetable |
ar |
autosomal recessive |
ABCG5 |
https://ghr.nlm.nih.gov/gene/ABCG5 |
beta-sitosterolemia |
db |
key |
2016-11 |
2017-12-29 |
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豆固醇血症 〈植物性〉 |
medical literature. However, researchers believe that this condition is likely |
oils, nuts, and other plant-based foods accumulate in the blood and tissues. |
related-gene |
gene-symbol |
ghr-page |
phytosterolaemia |
GTR |
C0342907 |
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underdiagnosed because mild cases often do not come to medical attention. |
These lipids are called plant sterols (or phytosterols). Sitosterol is one of |
ABCG8 |
https://ghr.nlm.nih.gov/gene/ABCG8 |
phytosterolemia |
db |
key |
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Studies suggest that the prevalence may be at least 1 in 50,000 people. |
several plant sterols that accumulate in this disorder, with a blood level 30 to |
plant sterol storage disease |
GeneReviews |
stsl |
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100 times greater than normal. Cholesterol, a similar fatty substance found in |
sitosterolaemia |
db |
key |
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animal products, is mildly to moderately elevated in many people with |
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MeSH |
D008052 |
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sitosterolemia. Cholesterol levels are particularly high in some affected |
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key |
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children. However, some people with sitosterolemia have normal cholesterol |
OMIM |
210250 |
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levels. |
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key |
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html:p |
Plant sterols are not produced by the body; they are taken in as components of |
Orphanet |
2882 |
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foods. Signs and symptoms of sitosterolemia may begin to appear early in life |
db |
key |
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after foods containing plant sterols are introduced into the diet, although some |
SNOMED CT |
238104009 |
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affected individuals have no obvious symptoms. |
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html:p |
In people with sitosterolemia, accumulation of fatty deposits in arteries |
SNOMED CT |
65419005 |
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(atherosclerosis) can occur as early as childhood. These deposits narrow the |
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arteries and can eventually block blood flow, increasing the chance of a heart |
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attack, stroke, or sudden death. |
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html:p |
Some people with sitosterolemia develop small yellowish growths called xanthomas |
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beginning in childhood. Xanthomas consist of accumulated lipids and may be |
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located anywhere on or just under the skin, typically on the heels, knees, |
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elbows, and buttocks. They may also occur in the bands that connect muscles to |
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bones (tendons), including tendons of the hand and the tendon that connects the |
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heel of the foot to the calf muscles (the Achilles tendon). Large xanthomas can |
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cause pain, difficulty with movement, and cosmetic problems. |
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html:p |
Joint stiffness and pain resulting from plant sterol deposits may also occur in |
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individuals with sitosterolemia. Less often, affected individuals have blood |
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abnormalities. Occasionally the blood abnormalities are the only signs of the |
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disorder. The red blood cells may be broken down (undergo hemolysis) |
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prematurely, resulting in a shortage of red blood cells (anemia). This type of |
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anemia is called hemolytic anemia. Affected individuals sometimes have |
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abnormally shaped red blood cells called stomatocytes. In addition, the blood |
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cell fragments involved in clotting, called platelets or thrombocytes, may be |
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abnormally large (macrothrombocytopenia). |
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related-gene-list |
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Sjögren-Larsson syndrome |
https://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome |
Sjögren-Larsson syndrome was first observed in Sweden, where the prevalence |
html:p |
Sjögren-Larsson syndrome is a condition characterized by dry, scaly skin |
ar |
autosomal recessive |
ALDH3A2 |
https://ghr.nlm.nih.gov/gene/ALDH3A2 |
congenital icthyosis mental retardation spasticity syndrome |
db |
key |
2011-10 |
2017-12-29 |
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Sjögren-Larsson綜合徵 |
of this condition is 1 per 250,000 individuals. Outside Sweden, the prevalence |
(ichthyosis); neurological problems; and eye problems. These symptoms are |
FALDH deficiency |
GTR |
C0037231 |
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of this condition is unknown. |
apparent by early childhood and usually do not worsen with age. |
fatty aldehyde dehydrogenase deficiency |
db |
key |
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Affected infants tend to be born prematurely. At birth the skin is red |
ichthyosis oligophrenia syndrome |
MeSH |
D016111 |
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(erythema), but later in infancy the skin becomes dry, rough, and scaly with a |
Sjogren-Larsson syndrome |
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brownish or yellowish tone. Mild to severe itchiness (pruritus) is also common. |
SLS |
OMIM |
270200 |
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These skin abnormalities are generally dispersed over the whole body, most |
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severely affecting the nape of the neck, the torso, and the extremities. The |
SNOMED CT |
111303009 |
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skin of the face is usually not affected. |
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People with this condition may also have neurological signs and symptoms. Most |
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affected individuals have leukoencephalopathy, which is a change in a type of |
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brain tissue called white matter. White matter consists of nerve fibers covered |
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by a substance (myelin) that insulates and protects the nerves. The |
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leukoencephalopathy is thought to contribute to many of the neurological signs |
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and symptoms in people with Sjögren-Larsson syndrome. Most affected individuals |
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have intellectual disability that varies from mild to profound and is usually |
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apparent by early childhood. People with Sjögren-Larsson syndrome have speech |
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difficulties (dysarthria) and delayed speech. Usually they are able to produce |
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only short sentences with poorly formed words. Rarely, people with this |
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condition have normal intelligence. In addition, approximately 40 percent of |
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people with Sjögren-Larsson syndrome have seizures. |
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Children with this condition often experience delayed development of motor |
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skills (such as crawling and walking) due to abnormal muscle stiffness |
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(spasticity) that is typically in their legs and, less commonly, also in their |
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arms. About one-half of people with Sjögren-Larsson syndrome require wheelchair |
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assistance and many others need some form of support to walk. |
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Affected individuals have tiny crystals in the light-sensitive tissue at the |
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back of the eye (retina) that can be seen during an eye exam. Based on their |
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appearance, these retinal crystals are often called glistening white dots. These |
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white dots are usually apparent by early childhood, and it is unclear if they |
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affect normal vision. People with Sjögren-Larsson syndrome may also have |
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nearsightedness (myopia) or an increased sensitivity to light (photophobia). |
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synonym-list |
db-key-list |
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Sjögren syndrome |
https://ghr.nlm.nih.gov/condition/sjogren-syndrome |
Sjögren syndrome is a relatively common disorder; it occurs in 0.1 to 4 |
html:p |
Sjögren syndrome is a disorder whose main features are dry eyes and a dry mouth. |
u |
pattern unknown |
synonym |
Gougerot-Houwer-Sjogren syndrome |
key |
2017-12-29 |
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修格连氏症候群 |
percent of the population. It is difficult to determine the exact prevalence |
The condition typically develops gradually beginning in middle adulthood, but |
synonym |
Gougerot-Sjogren syndrome |
db-key |
C1527336 |
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舍格伦综合症 |
because the characteristic features of this disorder, dry eyes and dry mouth, |
it can occur at any age. |
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synonym |
keratoconjunctivitis sicca |
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干燥综合症 |
can also be caused by many other conditions. Women develop Sjögren syndrome |
html:p |
Sjögren syndrome is classified as an autoimmune disorder, one of a large group |
synonym |
keratoconjunctivitis sicca-xerostomia |
db-key |
M35.0 |
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about 10 times more often than men; the specific reason for this difference is |
of conditions that occur when the immune system attacks the body's own tissues |
synonym |
secreto-inhibitor-xerodermostenosis |
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unknown but likely involves the effects of sex hormones on immune system |
and organs. In Sjögren syndrome, the immune system primarily attacks the glands |
synonym |
sicca syndrome |
db-key |
M35.00 |
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function. |
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that produce tears (the lacrimal glands) and saliva (the salivary glands), |
synonym |
Sjogren-Gougerot syndrome |
key |
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impairing the glands' ability to secrete these fluids. |
synonym |
Sjogren's syndrome |
db-key |
M35.01 |
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html:p |
Dry eyes may lead to itching, burning, a feeling of sand in the eyes, blurry |
key |
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vision, or intolerance of bright or fluorescent lighting. A dry mouth can feel |
db-key |
M35.02 |
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chalky or full of cotton, and affected individuals may have difficulty speaking, |
key |
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tasting food, or swallowing. Because saliva helps protect the teeth and the |
db-key |
M35.03 |
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tissues of the oral cavity, people with Sjögren syndrome are at increased risk |
key |
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of tooth decay and infections in the mouth. |
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db-key |
M35.04 |
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html:p |
In most people with Sjögren syndrome, dry eyes and dry mouth are the primary |
key |
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features of the disorder, and general health and life expectancy are largely |
db-key |
M35.09 |
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unaffected. However, in some cases the immune system also attacks and damages |
key |
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other organs and tissues. This complication is known as extraglandular |
db-key |
D012859 |
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involvement. Affected individuals may develop inflammation in connective |
key |
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tissues, which provide strength and flexibility to structures throughout the |
db-key |
270150 |
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body. Disorders involving connective tissue inflammation are sometimes called |
key |
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rheumatic conditions. In Sjögren syndrome, extraglandular involvement may result |
db-key |
378 |
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in painful inflammation of the joints and muscles; dry, itchy skin and skin |
key |
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rashes; chronic cough; a hoarse voice; kidney and liver problems; numbness or |
db-key |
302896008 |
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tingling in the hands and feet; and, in women, vaginal dryness. Prolonged and |
key |
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extreme tiredness (fatigue) severe enough to affect activities of daily living |
83901003 |
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may also occur in this disorder. A small number of people with Sjögren syndrome |
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develop lymphoma, a blood-related cancer that causes tumor formation in the |
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lymph nodes. |
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html:p |
Some individuals who are first diagnosed with another rheumatic disorder, such |
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as rheumatoid arthritis or systemic lupus erythematosus, later develop the dry |
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eyes and dry mouth characteristic of Sjögren syndrome. Other autoimmune |
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disorders can also develop after the onset of Sjögren syndrome. In all, about |
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half of all individuals with Sjögren syndrome also have another autoimmune |
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disorder. |
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Skeletal Dysplasia |
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骨骼發育異常 |
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inheritance-pattern-list |
related-gene-list |
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SLC4A1-associated distal renal tubular acidosis |
https://ghr.nlm.nih.gov/condition/slc4a1-associated-distal-renal-tubular-acidosi |
The prevalence of SLC4A1-associated distal renal tubular acidosis is |
html:p |
html:i |
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ad |
autosomal dominant |
ghr-page |
classic distal renal tubular acidosis |
db-key |
db |
key |
2014-08 |
2017-12-29 |
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SLC4A1相關的遠端腎小管酸中毒 |
s |
unknown. The condition is most common in Southeast Asia, especially Thailand. |
SLC4A1 |
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inheritance-pattern |
code |
memo |
|
https://ghr.nlm.nih.gov/gene/SLC4A1 |
renal tubular acidosis type I |
GTR |
C0259810 |
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ar |
autosomal recessive |
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RTA, classic type |
db-key |
db |
key |
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In rare cases, these kidney abnormalities lead to life-threatening kidney failure. |
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GTR |
C1969038 |
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db-key |
db |
key |
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MeSH |
D000141 |
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db-key |
db |
key |
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OMIM |
179800 |
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db-key |
db |
key |
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-associated distal renal tubular acidosis have excess calcium in the urine |
|
OMIM |
611590 |
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(hypercalciuria), calcium deposits in the kidneys (nephrocalcinosis), and kidney |
db-key |
db |
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stones (nephrolithiasis). In rare cases, these kidney abnormalities lead to |
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Orphanet |
18 |
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life-threatening kidney failure. Affected individuals may also have low levels |
db-key |
db |
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of potassium in the blood (hypokalemia). |
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Orphanet |
93608 |
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html:p |
Individuals with the features described above have complete distal renal tubular |
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db-key |
db |
key |
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acidosis, which usually becomes apparent in childhood. Some people do not |
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Orphanet |
93610 |
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develop metabolic acidosis even though their kidneys have trouble removing |
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db-key |
db |
key |
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acids; these individuals are said to have incomplete distal renal tubular |
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SNOMED CT |
236461000 |
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acidosis. Additionally, these individuals may have other features of distal |
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renal tubular acidosis, such as bone problems and kidney stones. Often, people |
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who initially have incomplete distal renal tubular acidosis develop metabolic |
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acidosis later in life. |
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html:p |
html:i |
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SLC4A1 |
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html:p |
html:i |
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SLC4A1 |
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related-gene-list |
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Small fiber neuropathy |
https://ghr.nlm.nih.gov/condition/small-fiber-neuropathy |
The prevalence of small fiber neuropathy is unknown. |
html:p |
Small fiber neuropathy is a condition characterized by severe pain attacks that |
ad |
autosomal dominant |
SCN9A |
https://ghr.nlm.nih.gov/gene/SCN9A |
SFN |
db |
key |
2012-11 |
2017-12-29 |
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typically begin in the feet or hands. As a person ages, the pain attacks can |
related-gene |
gene-symbol |
ghr-page |
SFNP |
GTR |
C3276709 |
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affect other regions. Some people initially experience a more generalized, |
SCN10A |
https://ghr.nlm.nih.gov/gene/SCN10A |
small nerve fiber neuropathy |
db |
key |
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whole-body pain. The attacks usually consist of pain described as stabbing or |
MeSH |
D000071075 |
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burning, or abnormal skin sensations such as tingling or itchiness. In some |
db |
key |
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individuals, the pain is more severe during times of rest or at night. The signs |
OMIM |
133020 |
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and symptoms of small fiber neuropathy usually begin in adolescence to |
db |
key |
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mid-adulthood. |
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Orphanet |
306577 |
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html:p |
Individuals with small fiber neuropathy cannot feel pain that is concentrated in |
db |
key |
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a very small area, such as the prick of a pin. However, they have an increased |
SNOMED CT |
709489006 |
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sensitivity to pain in general (hyperalgesia) and experience pain from |
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stimulation that typically does not cause pain (hypoesthesia). People affected |
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with this condition may also have a reduced ability to differentiate between hot |
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and cold. However, in some individuals, the pain attacks are provoked by cold |
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or warm triggers. |
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Some affected individuals have urinary or bowel problems, episodes of rapid |
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heartbeat (palpitations), dry eyes or mouth, or abnormal sweating. They can also |
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experience a sharp drop in blood pressure upon standing (orthostatic |
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hypotension), which can cause dizziness, blurred vision, or fainting. |
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html:p |
Small fiber neuropathy is considered a form of peripheral neuropathy because it |
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affects the peripheral nervous system, which connects the brain and spinal cord |
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to muscles and to cells that detect sensations such as touch, smell, and pain. |
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related-gene-list |
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Smith-Lemli-Opitz syndrome, SLOS |
https://ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome |
Smith-Lemli-Opitz syndrome affects an estimated 1 in 20,000 to 60,000 |
html:p |
Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts |
ar |
autosomal recessive |
DHCR7 |
https://ghr.nlm.nih.gov/gene/DHCR7 |
7-Dehydrocholesterol reductase deficiency |
db |
key |
2007-07 |
2017-12-29 |
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Smith-Lemli-Opitz症候群 |
newborns. This condition is most common in whites of European ancestry, |
of the body. This condition is characterized by distinctive facial features, |
RSH Syndrome |
GTR |
C0175694 |
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史密斯-藍利-歐比司症候群 |
particularly people from Central European countries such as Slovakia and the |
small head size (microcephaly), intellectual disability or learning problems, |
SLO syndrome |
db |
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Czech Republic. It is very rare among African and Asian populations. |
and behavioral problems. Many affected children have the characteristic |
SLOS |
GeneReviews |
slo |
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features of autism, a developmental condition that affects communication and |
db |
key |
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social interaction. Malformations of the heart, lungs, kidneys, |
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ICD-10-CM |
E78.72 |
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gastrointestinal tract, and genitalia are also common. Infants with |
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Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding |
MeSH |
D019082 |
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difficulties, and tend to grow more slowly than other infants. Most affected |
db |
key |
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individuals have fused second and third toes (syndactyly), and some have extra |
OMIM |
270400 |
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fingers or toes (polydactyly). |
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html:p |
The signs and symptoms of Smith-Lemli-Opitz syndrome vary widely. Mildly |
Orphanet |
818 |
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affected individuals may have only minor physical abnormalities with learning |
db |
key |
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and behavioral problems. Severe cases can be life-threatening and involve |
SNOMED CT |
43929004 |
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profound intellectual disability and major physical abnormalities. |
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related-gene-list |
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Smith-Magenis syndrome |
https://ghr.nlm.nih.gov/condition/smith-magenis-syndrome |
Smith-Magenis syndrome affects at least 1 in 25,000 individuals worldwide. |
html:p |
Smith-Magenis syndrome is a developmental disorder that affects many parts of |
n |
not inherited |
RAI1 |
https://ghr.nlm.nih.gov/gene/RAI1 |
17p- syndrome |
db |
key |
2017-10 |
2017-12-29 |
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史密斯-馬吉利氏症候群 |
However, researchers believe that many people with this condition are not |
the body. The major features of this condition include mild to moderate |
related-chromosome |
name |
ghr-page |
17p11.2 monosomy |
GTR |
C0795864 |
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diagnosed, so the true prevalence may be closer to 1 in 15,000 individuals. |
intellectual disability, delayed speech and language skills, distinctive facial |
17 |
https://ghr.nlm.nih.gov/chromosome/17 |
chromosome 17p deletion syndrome |
db |
key |
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features, sleep disturbances, and behavioral problems. |
|
deletion 17p syndrome |
GeneReviews |
sms |
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html:p |
Most people with Smith-Magenis syndrome have a broad, square-shaped face with |
partial monosomy 17p |
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deep-set eyes, full cheeks, and a prominent lower jaw. The middle of the face |
SMS |
MeSH |
D058496 |
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and the bridge of the nose often appear flattened. The mouth tends to turn |
db |
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downward with a full, outward-curving upper lip. These facial differences can be |
OMIM |
182290 |
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subtle in early childhood, but they usually become more distinctive in later |
db |
key |
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childhood and adulthood. Dental abnormalities are also common in affected |
Orphanet |
819 |
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individuals. |
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db |
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html:p |
Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, typically |
SNOMED CT |
401315004 |
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beginning early in life. Affected people may be very sleepy during the day, but |
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they have trouble falling asleep at night and awaken several times during the |
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night and early morning. |
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html:p |
People with Smith-Magenis syndrome typically have affectionate, engaging |
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personalities, but most also have behavioral problems. These include frequent |
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temper tantrums and outbursts, aggression, anxiety, impulsiveness, and |
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difficulty paying attention. Self-injury, including biting, hitting, head |
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banging, and skin picking, is very common. Repetitive self-hugging is a |
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behavioral trait that may be unique to Smith-Magenis syndrome. Some people with |
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this condition also compulsively lick their fingers and flip pages of books and |
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magazines (a behavior known as "lick and flip"). |
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html:p |
Other signs and symptoms of Smith-Magenis syndrome include short stature, |
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abnormal curvature of the spine (scoliosis), reduced sensitivity to pain and |
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temperature, and a hoarse voice. Some people with this disorder have ear |
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abnormalities that lead to hearing loss. Affected individuals may have eye |
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abnormalities that cause nearsightedness (myopia) and other vision problems. |
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Although less common, heart and kidney defects also have been reported in people |
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with Smith-Magenis syndrome. |
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related-gene-list |
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Snyder-Robinson syndrome |
https://ghr.nlm.nih.gov/condition/snyder-robinson-syndrome |
Snyder-Robinson syndrome is a rare condition; its prevalence is unknown. |
html:p |
Snyder-Robinson syndrome is a condition characterized by intellectual |
xr |
X-linked recessive |
SMS |
https://ghr.nlm.nih.gov/gene/SMS |
mental retardation, X-linked, syndromic, Snyder-Robinson type |
db |
key |
2016-11 |
2017-12-29 |
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斯奈德 - 羅賓遜綜合症 |
About 10 affected families have been identified worldwide. |
disability, muscle and bone abnormalities, and other problems with development. |
Snyder-Robinson X-linked mental retardation syndrome |
GTR |
C0796160 |
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It occurs exclusively in males. |
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spermine synthase deficiency |
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html:p |
Males with Snyder-Robinson syndrome have delayed development and intellectual |
SRS |
GeneReviews |
snyder-robinson |
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disability beginning in early childhood. The intellectual disability can range |
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from mild to profound. Speech often develops late, and speech difficulties are |
MeSH |
D002658 |
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common. Some affected individuals never develop any speech. |
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html:p |
Most affected males are thin and have low muscle mass, a body type described as |
MeSH |
D038901 |
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an asthenic habitus. Weakness or "floppiness" (hypotonia) typically becomes |
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apparent in infancy, and the loss of muscle tissue continues with age. People |
OMIM |
309583 |
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with this condition often have difficulty walking; most have an unsteady gait. |
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html:p |
Snyder-Robinson syndrome causes skeletal problems, particularly thinning of the |
Orphanet |
3063 |
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bones (osteoporosis) that starts in early childhood. Osteoporosis causes the |
db |
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bones to be brittle and to break easily, often during normal activities. In |
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SNOMED CT |
702416008 |
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people with Snyder-Robinson syndrome, broken bones occur most often in the arms |
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and legs. Most affected individuals also develop an abnormal side-to-side and |
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back-to-front curvature of the spine (scoliosis and kyphosis, often called |
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kyphoscoliosis when they occur together). Affected individuals tend to be |
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shorter than their peers and others in their family. |
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html:p |
Snyder-Robinson syndrome is associated with distinctive facial features, |
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including a prominent lower lip; a high, narrow roof of the mouth or an opening |
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in the roof of the mouth (a cleft palate); and differences in the size and shape |
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of the right and left sides of the face (facial asymmetry). Other signs and |
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symptoms that have been reported include seizures that begin in childhood and |
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abnormalities of the genitalia and kidneys. |
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inheritance-pattern-list |
related-gene-list |
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SOST-related sclerosing bone dysplasia |
https://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia |
SOST-related sclerosing bone dysplasia is a rare condition; its exact |
html:p |
html:i |
|
ar |
autosomal recessive |
SOST |
synonym |
db-key |
db |
key |
2009-06 |
2017-12-29 |
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SOST相關的硬化性骨發育不良 |
prevalence is unknown.Approximately 100 individuals with sclerosteosis have been |
SOST |
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synonym |
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GTR |
C0265301 |
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reported in the scientific literature. Sclerosteosis is most common in the |
synonym |
db-key |
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Afrikaner population of South Africa.Van Buchem disease has been reported in |
synonym |
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GTR |
C0432272 |
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approximately 30 people. Most people with van Buchem disease are of Dutch |
synonym |
db-key |
db |
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ancestry. |
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synonym |
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GeneReviews |
sost |
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db-key |
db |
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MeSH |
D015576 |
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db-key |
db |
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OMIM |
239100 |
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db-key |
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OMIM |
269500 |
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html:p |
Abnormal bone growth can pinch (compress) the cranial nerves, which emerge from |
db-key |
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the brain and extend to various areas of the head and neck. Compression of the |
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Orphanet |
3152 |
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cranial nerves can lead to paralyzed facial muscles (facial nerve palsy), |
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hearing loss, vision loss, and a sense of smell that is diminished (hyposmia) or |
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Orphanet |
3416 |
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completely absent (anosmia). Abnormal bone growth can cause life-threatening |
db-key |
db |
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complications if it compresses the part of the brain that is connected to the |
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SNOMED CT |
17568006 |
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spinal cord (the brainstem). |
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db-key |
db |
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html:p |
html:i |
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SNOMED CT |
59763006 |
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SOST |
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html:p |
Sclerosteosis is the more severe form of the disorder. People with |
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sclerosteosis are often tall and have webbed or fused fingers (syndactyly), most |
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often involving the second and third fingers. The syndactyly is present from |
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birth, while the skeletal features typically appear in early childhood. People |
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with sclerosteosis may also have absent or malformed nails. |
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html:p |
Van Buchem disease represents the milder form of the disorder. People with van |
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Buchem disease are typically of average height and do not have syndactyly or |
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nail abnormalities. Affected individuals tend to have less severe cranial nerve |
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compression, resulting in milder neurological features. In people with van |
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Buchem disease, the skeletal features typically appear in childhood or |
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adolescence. |
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related-gene-list |
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Sotos syndrome |
https://ghr.nlm.nih.gov/condition/sotos-syndrome |
Sotos syndrome is reported to occur in 1 in 10,000 to 14,000 newborns. |
html:p |
Sotos syndrome is a disorder characterized by a distinctive facial appearance, |
ad |
autosomal dominant |
NSD1 |
https://ghr.nlm.nih.gov/gene/NSD1 |
cerebral gigantism |
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2015-02 |
2017-12-29 |
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Sotos 症候群 |
Because many of the features of Sotos syndrome can be attributed to other |
overgrowth in childhood, and learning disabilities or delayed development of |
Sotos sequence |
GTR |
C0175695 |
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索托斯綜合症 |
conditions, many cases of this disorder are likely not properly diagnosed, so |
mental and movement abilities. Characteristic facial features include a long, |
Sotos' syndrome |
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cerebral gigantism |
the true incidence may be closer to 1 in 5,000. |
narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed |
GeneReviews |
sotos |
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大腦巨大症 |
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chin. In addition, the outside corners of the eyes may point downward |
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(down-slanting palpebral fissures). This facial appearance is most notable in |
ICD-10-CM |
E22.0 |
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early childhood. Affected infants and children tend to grow quickly; they are |
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significantly taller than their siblings and peers and have an unusually large |
MeSH |
D058495 |
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head. However, adult height is usually in the normal range. |
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html:p |
People with Sotos syndrome often have intellectual disability, and most also |
OMIM |
117550 |
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have behavioral problems. Frequent behavioral issues include attention deficit |
db |
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hyperactivity disorder (ADHD), phobias, obsessions and compulsions, tantrums, |
Orphanet |
821 |
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and impulsive behaviors. Problems with speech and language are also common. |
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Affected individuals often have a stutter, a monotone voice, and problems with |
SNOMED CT |
75968004 |
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sound production. Additionally, weak muscle tone (hypotonia) may delay other |
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aspects of early development, particularly motor skills such as sitting and |
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crawling. |
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html:p |
Other signs and symptoms of Sotos syndrome can include an abnormal side-to-side |
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curvature of the spine (scoliosis), seizures, heart or kidney defects, hearing |
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loss, and problems with vision. Some infants with this disorder experience |
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yellowing of the skin and whites of the eyes (jaundice) and poor feeding. |
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html:p |
A small percentage of people with Sotos syndrome have developed cancer, most |
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often in childhood, but no single form of cancer occurs most frequently with |
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this condition. It remains uncertain whether Sotos syndrome increases the risk |
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of specific types of cancer. If people with this disorder have an increased |
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cancer risk, it is only slightly greater than that of the general population. |
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inheritance-pattern-list |
related-gene-list |
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SOX2 anophthalmia syndrome |
https://ghr.nlm.nih.gov/condition/sox2-anophthalmia-syndrome |
SOX2 anophthalmia syndrome is estimated to affect 1 in 250,000 individuals. |
html:p |
html:i |
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ad |
autosomal dominant |
ghr-page |
AEG syndrome |
db-key |
db |
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2009-03 |
2017-12-29 |
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SOX2眼球缺乏綜合症 |
About 10 percent to 15 percent of people with anophthalmia in both eyes have |
SOX2 |
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https://ghr.nlm.nih.gov/gene/SOX2 |
Anophthalmia-esophageal-genital syndrome |
GTR |
C1859773 |
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(Vision) |
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SOX2 anophthalmia syndrome. |
html:p |
html:i |
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SOX2-related eye disorders |
db-key |
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SOX2 |
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syndromic microphthalmia 3 |
GeneReviews |
sox2 |
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db-key |
db |
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MeSH |
D000853 |
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db-key |
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anophthalmia syndrome, one eye may be more affected than the other. |
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OMIM |
206900 |
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db-key |
db |
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html:p |
html:i |
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SNOMED CT |
698851003 |
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SOX2 |
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related-gene-list |
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Spastic paraplegia type 11 |
https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-11 |
Over 100 cases of spastic paraplegia type 11 have been reported. Although |
html:p |
Spastic paraplegia type 11 is part of a group of genetic disorders known as |
ar |
autosomal recessive |
SPG11 |
https://ghr.nlm.nih.gov/gene/SPG11 |
autosomal recessive spastic paraplegia complicated with thin corpus callosum |
db |
key |
2009-04 |
2017-12-29 |
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痙攣性下半身麻痺第11型 |
this condition is thought to be rare, its exact prevalence is unknown. |
hereditary spastic paraplegias. These disorders are characterized by progressive |
autosomal recessive spastic paraplegia with mental impairment and thin corpus |
GTR |
C1858479 |
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muscle stiffness (spasticity) and the development of paralysis of the lower |
callosum |
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limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: |
HSP-TCC |
GeneReviews |
spg11 |
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pure and complex. The pure types involve the lower limbs. The complex types |
SPG11-related hereditary spastic paraplegia with thin corpus callosum |
db |
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involve the lower limbs and can affect the upper limbs to a lesser degree. |
ICD-10-CM |
G11.4 |
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Complex spastic paraplegias also affect the structure or functioning of the |
db |
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brain and the peripheral nervous system, which consists of nerves connecting the |
MeSH |
D010264 |
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brain and spinal cord to muscles and sensory cells that detect sensations such |
db |
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as touch, pain, heat, and sound. Spastic paraplegia type 11 is a complex |
MeSH |
D015419 |
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hereditary spastic paraplegia. |
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db |
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html:p |
Like all hereditary spastic paraplegias, spastic paraplegia type 11 involves |
OMIM |
604360 |
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spasticity of the leg muscles and muscle weakness. In almost all individuals |
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with this type of spastic paraplegia, the tissue connecting the left and right |
Orphanet |
685 |
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halves of the brain (corpus callosum) is abnormally thin. People with this form |
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of spastic paraplegia can also experience numbness, tingling, or pain in the |
SNOMED CT |
715491000 |
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arms and legs (sensory neuropathy); disturbance in the nerves used for muscle |
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movement (motor neuropathy); intellectual disability; exaggerated reflexes |
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(hyperreflexia) of the lower limbs; speech difficulties (dysarthria); reduced |
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bladder control; and muscle wasting (amyotrophy). Less common features include |
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difficulty swallowing (dysphagia), high-arched feet (pes cavus), an abnormal |
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curvature of the spine (scoliosis), and involuntary movements of the eyes |
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(nystagmus). The onset of symptoms varies greatly; however, abnormalities in |
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muscle tone and difficulty walking usually become noticeable in adolescence. |
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html:p |
Many features of spastic paraplegia type 11 are progressive. Most people |
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experience a decline in intellectual ability and an increase in muscle weakness |
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and nerve abnormalities over time. As the condition progresses, some people |
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require wheelchair assistance. |
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related-gene-list |
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Spastic paraplegia type 15 |
https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-15 |
Spastic paraplegia type 15 is a rare condition, although its exact |
html:p |
Spastic paraplegia type 15 is part of a group of genetic disorders known as |
ar |
autosomal recessive |
ZFYVE26 |
https://ghr.nlm.nih.gov/gene/ZFYVE26 |
autosomal recessive spastic paraplegia 15 |
db |
key |
2014-04 |
2017-12-29 |
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痙攣性下半身麻痺第15型 |
prevalence is unknown. |
hereditary spastic paraplegias. These disorders are characterized by progressive |
Kjellin syndrome |
GTR |
C1849128 |
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muscle stiffness (spasticity) and the development of paralysis of the lower |
spastic paraplegia and retinal degeneration |
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limbs (paraplegia). Spastic paraplegia type 15 is classified as a complex |
SPG15 |
GeneReviews |
hsp |
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hereditary spastic paraplegia because it involves all four limbs as well as |
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additional features, including abnormalities of the brain. In addition to the |
ICD-10-CM |
G11.4 |
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muscles and brain, spastic paraplegia type 15 affects the peripheral nervous |
db |
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system, which consists of nerves connecting the brain and spinal cord to muscles |
MeSH |
D015419 |
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and sensory cells that detect sensations such as touch, pain, heat, and sound. |
db |
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html:p |
Spastic paraplegia type 15 usually becomes apparent in childhood or adolescence |
OMIM |
270700 |
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with the development of weak muscle tone (hypotonia), difficulty walking, or |
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intellectual disability. In almost all affected individuals, the tissue |
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Orphanet |
685 |
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connecting the left and right halves of the brain (corpus callosum) is |
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abnormally thin and becomes thinner over time. Additionally, there is often a |
SNOMED CT |
709417000 |
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loss (atrophy) of nerve cells in several parts of the brain, including the |
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cerebral cortex, which controls thinking and emotions, and the cerebellum, which |
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coordinates movement. |
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html:p |
People with this form of spastic paraplegia can have numbness, tingling, or pain |
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in the arms and legs (sensory neuropathy); impairment of the nerves used for |
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muscle movement (motor neuropathy); exaggerated reflexes (hyperreflexia) of the |
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lower limbs; muscle wasting (amyotrophy); or reduced bladder control. Rarely, |
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spastic paraplegia type 15 is associated with a group of movement abnormalities |
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called parkinsonism, which includes tremors, rigidity, and unusually slow |
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movement (bradykinesia). People with spastic paraplegia type 15 may have an eye |
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condition called pigmentary maculopathy that often impairs vision. This |
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condition results from the breakdown (degeneration) of tissue at the back of the |
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eye called the macula, which is responsible for sharp central vision. |
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html:p |
Most people with spastic paraplegia type 15 experience a decline in intellectual |
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ability and an increase in muscle weakness and nerve abnormalities over time. |
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As the condition progresses, many people require walking aids or wheelchair |
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assistance in adulthood. |
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related-gene-list |
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Spastic paraplegia type 2 |
https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-2 |
The prevalence of all hereditary spastic paraplegias combined is estimated |
html:p |
Spastic paraplegia type 2 is part of a group of genetic disorders known as |
xr |
X-linked recessive |
PLP1 |
https://ghr.nlm.nih.gov/gene/PLP1 |
Hereditary X-linked Recessive Spastic Paraplegia |
db |
key |
2008-03 |
2017-12-29 |
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痙攣性下半身麻痺第二型 |
to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type 2 likely |
hereditary spastic paraplegias. These disorders are characterized by progressive |
spastic paraplegia 2 |
GTR |
C1839264 |
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accounts for only a small percentage of all spastic paraplegia cases. |
muscle stiffness (spasticity) and the development of paralysis of the lower |
X linked Recessive Hereditary Spastic Paraplegia |
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limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: |
GeneReviews |
hsp |
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pure and complex. The pure types involve the lower limbs. The complex types |
db |
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involve the lower limbs and can also affect the upper limbs to a lesser degree; |
GeneReviews |
pmd |
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the structure or functioning of the brain; and the nerves connecting the brain |
db |
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and spinal cord to muscles and sensory cells that detect sensations such as |
ICD-10-CM |
G11.4 |
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touch, pain, heat, and sound (the peripheral nervous system). Spastic paraplegia |
db |
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type 2 can occur in either the pure or complex form. |
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MeSH |
D010264 |
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html:p |
People with the pure form of spastic paraplegia type 2 experience spasticity in |
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the lower limbs, usually without any additional features. People with the |
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MeSH |
D015419 |
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complex form of spastic paraplegia type 2 have lower limb spasticity and can |
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also experience problems with movement and balance (ataxia); involuntary |
OMIM |
312920 |
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movements of the eyes (nystagmus); mild intellectual disability; involuntary, |
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rhythmic shaking (tremor); and degeneration (atrophy) of the optic nerves, which |
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685 |
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carry information from the eyes to the brain. Symptoms usually become apparent |
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between the ages of 1 and 5 years; those affected are typically able to walk |
Orphanet |
99015 |
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and have a normal lifespan. |
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SNOMED CT |
230260007 |
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SNOMED CT |
230261006 |
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related-gene-list |
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SNOMED CT |
39912006 |
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Spastic paraplegia type 31 |
https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-31 |
Spastic paraplegia type 31 is one of a subgroup of hereditary spastic |
html:p |
Spastic paraplegia type 31 is one of a group of genetic disorders known as |
ad |
autosomal dominant |
REEP1 |
https://ghr.nlm.nih.gov/gene/REEP1 |
autosomal dominant spastic paraplegia 31 |
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2015-04 |
2017-12-29 |
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痙攣性下半身麻痺第31型 |
paraplegias known as autosomal dominant hereditary spastic paraplegia, which has |
hereditary spastic paraplegias. These disorders are characterized by progressive |
spastic paraplegia 31 |
GTR |
C1853247 |
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an estimated prevalence of one to 12 per 100,000 individuals. Spastic |
muscle stiffness (spasticity) and the development of paralysis of the lower |
SPG31 |
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paraplegia type 31 accounts for 3 to 9 percent of all autosomal dominant |
limbs (paraplegia) caused by degeneration of nerve cells (neurons) that trigger |
GeneReviews |
hsp |
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hereditary spastic paraplegia cases. |
muscle movement. Hereditary spastic paraplegias are divided into two types: pure |
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and complicated. The pure types involve only the lower limbs, while the |
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ICD-10-CM |
G11.4 |
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complicated types also involve the upper limbs and other areas of the body, |
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including the brain. Spastic paraplegia type 31 is usually a pure hereditary |
MeSH |
D015419 |
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spastic paraplegia, although a few complicated cases have been reported. |
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html:p |
The first signs and symptoms of spastic paraplegia type 31 usually appear before |
OMIM |
610250 |
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age 20 or after age 30. An early feature is difficulty walking due to |
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spasticity and weakness, which typically affect both legs equally. People with |
Orphanet |
685 |
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spastic paraplegia type 31 can also experience progressive muscle wasting |
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(amyotrophy) in the lower limbs, exaggerated reflexes (hyperreflexia), a |
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Orphanet |
101011 |
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decreased ability to feel vibrations, reduced bladder control, and high-arched |
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feet (pes cavus). As the condition progresses, some individuals require walking |
SNOMED CT |
230260007 |
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support. |
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related-gene-list |
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Spastic paraplegia type 3A |
https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-3a |
Spastic paraplegia type 3A belongs to a subgroup of hereditary spastic |
html:p |
Spastic paraplegia type 3A is one of a group of genetic disorders known as |
ad |
autosomal dominant |
ATL1 |
https://ghr.nlm.nih.gov/gene/ATL1 |
spastic paraplegia 3 |
db |
key |
2015-03 |
2017-12-29 |
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痙攣性下半身麻痺第3A型 |
paraplegias known as autosomal dominant hereditary spastic paraplegia, which has |
hereditary spastic paraplegias. These disorders are characterized by muscle |
spastic paraplegia 3A |
GTR |
C2931355 |
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an estimated prevalence of 2 to 9 per 100,000 individuals. Spastic paraplegia |
stiffness (spasticity) and weakness in the lower limbs (paraplegia). Hereditary |
SPG3A |
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type 3A accounts for 10 to 15 percent of all autosomal dominant hereditary |
spastic paraplegias are often divided into two types: pure and complex. The pure |
GeneReviews |
hsp |
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spastic paraplegia cases. |
types involve only the lower limbs, while the complex types also involve other |
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areas of the body; additional features can include changes in vision, changes in |
GeneReviews |
spg3a |
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intellectual functioning, difficulty walking, and disturbances in nerve |
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function (neuropathy). Spastic paraplegia type 3A is usually a pure hereditary |
ICD-10-CM |
G11.4 |
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spastic paraplegia, although a few complex cases have been reported. |
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html:p |
In addition to spasticity and weakness, which typically affect both legs |
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MeSH |
D015419 |
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equally, people with spastic paraplegia type 3A can also experience progressive |
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muscle wasting (amyotrophy) in the lower limbs, reduced bladder control, an |
OMIM |
182600 |
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abnormal curvature of the spine (scoliosis), loss of sensation in the feet |
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(peripheral neuropathy), or high arches of the feet (pes cavus). The signs and |
Orphanet |
685 |
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symptoms of spastic paraplegia type 3A usually appear before the age of 10; the |
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average age of onset is 4 years. In some affected individuals the condition |
SNOMED CT |
39912006 |
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slowly worsens over time, sometimes leading to a need for walking support. |
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related-gene-list |
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Spastic paraplegia type 4 |
https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-4 |
The prevalence of spastic paraplegia type 4 is estimated to be 2 to 6 in |
html:p |
Spastic paraplegia type 4 is part of a group of genetic disorders known as |
ad |
autosomal dominant |
SPAST |
https://ghr.nlm.nih.gov/gene/SPAST |
spastic paraplegia 4 |
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2008-01 |
2017-12-29 |
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痙攣性下半身麻痺第4型 |
100,000 people worldwide. |
hereditary spastic paraplegias. These disorders are characterized by progressive |
SPG4 |
GTR |
C1866855 |
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muscle stiffness (spasticity) and the development of paralysis of the lower |
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limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: |
GeneReviews |
hsp |
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pure and complex. The pure types involve only the lower limbs, whereas the |
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complex types also involve the upper limbs (to a lesser degree) and the nervous |
GeneReviews |
spg4 |
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system. Spastic paraplegia type 4 is a pure hereditary spastic paraplegia. |
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html:p |
Like all hereditary spastic paraplegias, spastic paraplegia type 4 involves |
ICD-10-CM |
G11.4 |
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spasticity of the leg muscles and muscle weakness. People with this condition |
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can also experience exaggerated reflexes (hyperreflexia), ankle spasms, |
MeSH |
D010264 |
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high-arched feet (pes cavus), and reduced bladder control. Spastic paraplegia |
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type 4 generally affects nerve and muscle function in the lower half of the body |
MeSH |
D015419 |
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only. |
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OMIM |
182601 |
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Orphanet |
685 |
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related-gene-list |
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SNOMED CT |
230260007 |
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Spastic paraplegia type 5A |
https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-5a |
Spastic paraplegia type 5A is a rare condition. Its prevalence is unknown. |
html:p |
Spastic paraplegia type 5A is one of a group of genetic disorders known as |
ar |
autosomal recessive |
CYP7B1 |
https://ghr.nlm.nih.gov/gene/CYP7B1 |
autosomal recessive spastic paraplegia 5A |
db |
key |
2017-09 |
2017-12-29 |
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痙攣性下半身麻痺第5A型 |
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hereditary spastic paraplegias. These disorders are characterized by muscle |
spastic paraplegia 5A |
GTR |
C1849115 |
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stiffness (spasticity) and severe weakness in the lower limbs (paraplegia). |
SPG5A |
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Hereditary spastic paraplegias are often divided into two types: pure and |
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GeneReviews |
hsp |
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complex. The pure types involve spasticity and weakness only in the lower limbs, |
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while the complex types involve additional problems with other areas of the |
ICD-10-CM |
G11.4 |
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body; additional features can include changes in vision, changes in intellectual |
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functioning, brain abnormalities, and disturbances in nerve function |
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MeSH |
D015419 |
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(neuropathy). Spastic paraplegia type 5A is usually a pure hereditary spastic |
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paraplegia, although complex type features have been reported in some |
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OMIM |
270800 |
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individuals, usually in those who have had the condition for many years. |
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html:p |
In addition to spasticity and weakness, people with spastic paraplegia type 5A |
Orphanet |
100986 |
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can lose the ability to sense the position of their limbs or detect vibrations |
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with their lower limbs. They may also have muscle wasting (amyotrophy), reduced |
SNOMED CT |
39912006 |
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bladder control, or high arches of the feet (pes cavus). The signs and symptoms |
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of spastic paraplegia type 5A usually appear in adolescence but can begin at any |
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time between infancy and mid-adulthood. The condition slowly worsens over time, |
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often leading affected individuals to require walking support or wheelchair |
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assistance. |
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related-gene-list |
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Spastic paraplegia type 7 |
https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-7 |
The prevalence of all hereditary spastic paraplegias combined is estimated |
html:p |
Spastic paraplegia type 7 is part of a group of genetic disorders known as |
ar |
autosomal recessive |
SPG7 |
https://ghr.nlm.nih.gov/gene/SPG7 |
Autosomal Recessive Hereditary Spastic Paraplegia |
db |
key |
2008-01 |
2017-12-29 |
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痙攣性下半身麻痺第7型 |
to be 2 to 6 in 100,000 people worldwide. Spastic paraplegia type 7 likely |
hereditary spastic paraplegias. These disorders are characterized by progressive |
Hereditary Spastic Paraplegia |
GTR |
C1846564 |
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accounts for only a small percentage of all spastic paraplegia cases. |
muscle stiffness (spasticity) and the development of paralysis of the lower |
hereditary spastic paraplegia, paraplegin type |
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limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: |
spastic paraplegia 7 |
GeneReviews |
hsp |
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pure and complex. The pure types involve the lower limbs. The complex types |
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involve the lower limbs and can also affect the upper limbs to a lesser degree; |
GeneReviews |
spg7 |
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the structure or functioning of the brain; and the nerves connecting the brain |
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and spinal cord to muscles and sensory cells that detect sensations such as |
ICD-10-CM |
G11.4 |
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touch, pain, heat, and sound (the peripheral nervous system). Spastic |
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paraplegia type 7 can occur in either the pure or complex form. |
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MeSH |
D010264 |
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html:p |
Like all hereditary spastic paraplegias, spastic paraplegia type 7 involves |
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spasticity of the leg muscles and increased muscle weakness. People with this |
MeSH |
D015419 |
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form of spastic paraplegia can also experience exaggerated reflexes |
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(hyperreflexia) in the arms; speech difficulties (dysarthria); difficulty |
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OMIM |
607259 |
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swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild |
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hearing loss; abnormal curvature of the spine (scoliosis); high-arched feet (pes |
Orphanet |
685 |
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cavus); numbness, tingling, or pain in the arms and legs (sensory neuropathy); |
db |
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disturbance in the nerves used for muscle movement (motor neuropathy); and |
Orphanet |
99013 |
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muscle wasting (amyotrophy). The onset of symptoms varies greatly among those |
db |
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with spastic paraplegia type 7; however, abnormalities in muscle tone and other |
SNOMED CT |
715776003 |
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features are usually noticeable in adulthood. |
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related-gene-list |
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Spastic paraplegia type 8 |
https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-8 |
The prevalence of all hereditary spastic paraplegias combined is estimated |
html:p |
Spastic paraplegia type 8 is part of a group of genetic disorders known as |
ad |
autosomal dominant |
WASHC5 |
https://ghr.nlm.nih.gov/gene/WASHC5 |
autosomal dominant spastic paraplegia 8 |
db |
key |
2009-03 |
2017-12-29 |
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痙攣性下半身麻痺第8型 |
to be 1 to 18 in 100,000 people worldwide. Spastic paraplegia type 8 likely |
hereditary spastic paraplegias. These disorders are characterized by progressive |
hereditary spastic paraplegia 8 |
GTR |
C1863704 |
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accounts for only a small percentage of all spastic paraplegia cases. |
muscle stiffness (spasticity) and the development of paralysis of the lower |
spastic paraplegia 8 |
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limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: |
SPG 8 |
GeneReviews |
spg8 |
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pure and complex. The pure types involve only the nerves and muscles controlling |
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the lower limbs and bladder, whereas the complex types also have significant |
ICD-10-CM |
G11.4 |
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involvement of the nervous system in other parts of the body. Spastic paraplegia |
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type 8 is a pure hereditary spastic paraplegia. |
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MeSH |
D010264 |
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html:p |
Like all hereditary spastic paraplegias, spastic paraplegia type 8 involves |
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spasticity of the leg muscles and muscle weakness. People with this condition |
MeSH |
D015419 |
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can also experience exaggerated reflexes (hyperreflexia), a decreased ability to |
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feel vibrations, muscle wasting (amyotrophy), and reduced bladder control. The |
OMIM |
603563 |
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signs and symptoms of spastic paraplegia type 8 usually appear in early to |
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mid-adulthood. As the muscle weakness and spasticity get worse, some people may |
Orphanet |
685 |
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need the aid of a cane, walker, or wheelchair. |
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Spheroid Body Myopathy |
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球狀肌肉體病變 |
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related-gene-list |
|
SNOMED CT |
230260007 |
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Spina bifida |
https://ghr.nlm.nih.gov/condition/spina-bifida |
Spina bifida is one of the most common types of neural tube defect, |
html:p |
Spina bifida is a condition in which the neural tube, a layer of cells that |
u |
pattern unknown |
MTHFR |
https://ghr.nlm.nih.gov/gene/MTHFR |
cleft spine |
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2014-11 |
2017-12-29 |
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脊柱裂 |
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affecting an estimated 1 in 2,500 newborns worldwide. For unknown reasons, the |
ultimately develops into the brain and spinal cord, fails to close completely |
open spine |
GTR |
C0027794 |
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prevalence of spina bifida varies among different geographic regions and ethnic |
during the first few weeks of embryonic development. As a result, when the spine |
rachischisis |
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groups. In the United States, this condition occurs more frequently in Hispanics |
forms, the bones of the spinal column do not close completely around the |
spinal dysraphism |
GTR |
C1866558 |
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and non-Hispanic whites than in African Americans. |
developing nerves of the spinal cord. Part of the spinal cord may stick out |
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through an opening in the spine, leading to permanent nerve damage. Because |
ICD-10-CM |
Q05 |
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spina bifida is caused by abnormalities of the neural tube, it is classified as |
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a neural tube defect. |
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ICD-10-CM |
Q05.0 |
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html:p |
Children born with spina bifida often have a fluid-filled sac on their back that |
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is covered by skin, called a meningocele. If the sac contains part of the |
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ICD-10-CM |
Q05.1 |
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spinal cord and its protective covering, it is known as a myelomeningocele. The |
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signs and symptoms of these abnormalities range from mild to severe, depending |
ICD-10-CM |
Q05.2 |
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on where the opening in the spinal column is located and how much of the spinal |
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cord is affected. Related problems can include a loss of feeling below the level |
ICD-10-CM |
Q05.3 |
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of the opening, weakness or paralysis of the feet or legs, and problems with |
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bladder and bowel control. Some affected individuals have additional |
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ICD-10-CM |
Q05.4 |
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complications, including a buildup of excess fluid around the brain |
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(hydrocephalus) and learning problems. With surgery and other forms of |
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ICD-10-CM |
Q05.5 |
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treatment, many people with spina bifida live into adulthood. |
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html:p |
In a milder form of the condition, called spina bifida occulta, the bones of the |
ICD-10-CM |
Q05.6 |
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spinal column are abnormally formed, but the nerves of the spinal cord usually |
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develop normally. Unlike in the more severe form of spina bifida, the nerves do |
ICD-10-CM |
Q05.7 |
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not stick out through an opening in the spine. Spina bifida occulta most often |
db |
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causes no health problems, although rarely it can cause back pain or changes in |
ICD-10-CM |
Q05.8 |
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bladder function. |
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ICD-10-CM |
Q05.9 |
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db |
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ICD-10-CM |
Q07.01 |
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db |
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ICD-10-CM |
Q07.03 |
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db |
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ICD-10-CM |
Q76.0 |
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db |
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MeSH |
D016135 |
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db |
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OMIM |
182940 |
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db |
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OMIM |
601634 |
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db |
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Orphanet |
823 |
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db |
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|
SNOMED CT |
61819007 |
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db |
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related-gene-list |
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SNOMED CT |
67531005 |
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Spinal and bulbar muscular atrophy |
https://ghr.nlm.nih.gov/condition/spinal-and-bulbar-muscular-atrophy |
This condition affects fewer than 1 in 150,000 males and is very rare in |
html:p |
Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder |
xr |
X-linked recessive |
AR |
https://ghr.nlm.nih.gov/gene/AR |
bulbospinal muscular atrophy, X-linked |
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key |
2012-12 |
2017-12-29 |
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脊髓延髓性肌肉萎縮症 |
females. |
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of specialized nerve cells that control muscle movement (motor neurons). These |
KD |
GTR |
C1839259 |
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Kennedy's disease |
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nerve cells originate in the spinal cord and the part of the brain that is |
Kennedy disease |
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甘迺迪氏症 |
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connected to the spinal cord (the brainstem). |
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Kennedy spinal and bulbar muscular atrophy |
GeneReviews |
kennedy |
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html:p |
Spinal and bulbar muscular atrophy mainly affects males and is characterized by |
Kennedy's disease |
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muscle weakness and wasting (atrophy) that usually begins in adulthood and |
SBMA |
MeSH |
D055534 |
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worsens slowly over time. Muscle wasting in the arms and legs results in |
X-linked spinal and bulbar muscular atrophy |
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cramping; leg muscle weakness can also lead to difficulty walking and a tendency |
OMIM |
313200 |
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to fall. Certain muscles in the face and throat (bulbar muscles) are also |
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affected, which causes progressive problems with swallowing and speech. |
Orphanet |
481 |
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Additionally, muscle twitches (fasciculations) are common. Some males with the |
db |
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disorder experience unusual breast development (gynecomastia) and may be unable |
SNOMED CT |
230253001 |
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to father a child (infertile). |
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Spinal muscular atrophy, SMA |
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運動神經元/脊髓性肌肉萎縮 |
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related-gene-list |
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Spinal muscular atrophy with progressive myoclonic epilepsy, SMA |
https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy |
Spinal muscular atrophy affects 1 in 6,000 to 1 in 10,000 people. |
html:p |
Spinal muscular atrophy is a genetic disorder that affects the control of muscle |
ar |
autosomal recessive |
DYNC1H1 |
https://ghr.nlm.nih.gov/gene/DYNC1H1 |
hereditary motor neuronopathy |
db |
key |
2013-01 |
2017-12-29 |
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脊髓性肌萎縮伴進行性肌陣攣性癲癇 |
movement. It is caused by a loss of specialized nerve cells, called motor |
related-gene |
gene-symbol |
ghr-page |
progressive muscular atrophy |
GTR |
C0043116 |
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neurons, in the spinal cord and the part of the brain that is connected to the |
SMN1 |
https://ghr.nlm.nih.gov/gene/SMN1 |
SMA |
db |
key |
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spinal cord (the brainstem). The loss of motor neurons leads to weakness and |
related-gene |
gene-symbol |
ghr-page |
spinal amyotrophy |
GTR |
C0152109 |
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wasting (atrophy) of muscles used for activities such as crawling, walking, |
SMN2 |
https://ghr.nlm.nih.gov/gene/SMN2 |
db |
key |
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sitting up, and controlling head movement. In severe cases of spinal muscular |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0393538 |
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atrophy, the muscles used for breathing and swallowing are affected. There are |
UBA1 |
https://ghr.nlm.nih.gov/gene/UBA1 |
db |
key |
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many types of spinal muscular atrophy distinguished by the pattern of features, |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1834690 |
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severity of muscle weakness, and age when the muscle problems begin. |
VAPB |
https://ghr.nlm.nih.gov/gene/VAPB |
db |
key |
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html:p |
Type I spinal muscular atrophy (also called Werdnig-Hoffman disease) is a severe |
GTR |
C1838230 |
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form of the disorder that is evident at birth or within the first few months of |
db |
key |
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life. Affected infants are developmentally delayed; most are unable to support |
GTR |
C1844934 |
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their head or sit unassisted. Children with this type have breathing and |
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swallowing problems that may lead to choking or gagging. |
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GTR |
C1866777 |
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html:p |
Type II spinal muscular atrophy is characterized by muscle weakness that |
db |
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develops in children between ages 6 and 12 months. Children with type II can sit |
GeneReviews |
sma |
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without support, although they may need help getting to a seated position. |
db |
key |
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Individuals with this type of spinal muscular atrophy cannot stand or walk |
GeneReviews |
sma-xli |
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unaided. |
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db |
key |
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html:p |
Type III spinal muscular atrophy (also called Kugelberg-Welander disease or |
ICD-10-CM |
G12.0 |
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juvenile type) has milder features that typically develop between early |
db |
key |
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childhood and adolescence. Individuals with type III spinal muscular atrophy can |
ICD-10-CM |
G12.1 |
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stand and walk unaided, but walking and climbing stairs may become increasingly |
db |
key |
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difficult. Many affected individuals will require wheelchair assistance later |
MeSH |
D009134 |
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in life. |
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db |
key |
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html:p |
The signs and symptoms of type IV spinal muscular atrophy often occur after age |
OMIM |
158600 |
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30. Affected individuals usually experience mild to moderate muscle weakness, |
db |
key |
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tremor, twitching, or mild breathing problems. Typically, only muscles close to |
OMIM |
182980 |
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the center of the body (proximal muscles), such as the upper arms and legs, are |
db |
key |
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affected in type IV spinal muscular atrophy. |
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OMIM |
253300 |
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html:p |
The features of X-linked spinal muscular atrophy appear in infancy and include |
db |
key |
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severe muscle weakness and difficulty breathing. Children with this type often |
OMIM |
253400 |
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have joint deformities (contractures) that impair movement. In severe cases, |
db |
key |
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affected infants are born with broken bones. Poor muscle tone before birth may |
OMIM |
253550 |
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contribute to the contractures and broken bones seen in these children. |
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db |
key |
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html:p |
Spinal muscular atrophy, lower extremity, dominant (SMA-LED) is characterized by |
OMIM |
271150 |
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leg muscle weakness that is most severe in the thigh muscles (quadriceps). This |
db |
key |
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weakness begins in infancy or early childhood and progresses slowly. Affected |
OMIM |
301830 |
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individuals often have a waddling or unsteady walk and have difficulty rising |
db |
key |
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from a seated position and climbing stairs. |
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Orphanet |
70 |
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html:p |
An adult-onset form of spinal muscular atrophy that begins in early to |
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mid-adulthood affects the proximal muscles and is characterized by muscle |
SNOMED CT |
128212001 |
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cramping of the limbs and abdomen, weakness in the leg muscles, involuntary |
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muscle contractions, tremors, and a protrusion of the abdomen thought to be |
SNOMED CT |
5262007 |
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related to muscle weakness. Some affected individuals experience difficulty |
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swallowing and problems with bladder and bowel function. |
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SNOMED CT |
54280009 |
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SNOMED CT |
64383006 |
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related-gene-list |
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SNOMED CT |
85505000 |
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Spinal muscular atrophy with progressive myoclonic epilepsy |
https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-progressive-myocl |
SMA-PME is a rare disorder; approximately a dozen affected families have |
html:p |
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a |
ar |
autosomal recessive |
ASAH1 |
https://ghr.nlm.nih.gov/gene/ASAH1 |
hereditary myoclonus with progressive distal muscular atrophy |
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2013-12 |
2017-12-29 |
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脊髓性肌萎縮伴進行性肌陣攣性癲癇 |
onic-epilepsy |
been described in the scientific literature. |
neurological condition that causes muscle weakness and wasting (atrophy) and a |
Jankovic-Rivera syndrome |
GTR |
C1834569 |
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combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy). |
SMA-PME |
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html:p |
In individuals with SMA-PME, spinal muscular atrophy results from a loss of |
SMAPME |
MeSH |
D009134 |
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specialized nerve cells, called motor neurons, in the spinal cord and the part |
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of the brain that is connected to the spinal cord (the brainstem). After a few |
MeSH |
D020191 |
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years of normal development, affected children begin experiencing muscle |
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weakness and atrophy in the lower limbs, causing difficulty walking and frequent |
OMIM |
159950 |
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falls. The muscles in the upper limbs are later affected, and soon the muscle |
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weakness and atrophy spreads throughout the body. Once weakness reaches the |
Orphanet |
2590 |
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muscles used for breathing and swallowing, it leads to life-threatening |
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breathing problems and increased susceptibility to pneumonia. |
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SNOMED CT |
703524005 |
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html:p |
A few years after the muscle weakness begins, affected individuals start to |
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experience recurrent seizures (epilepsy). Most people with SMA-PME have a |
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variety of seizure types. In addition to myoclonic epilepsy, they may have |
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generalized tonic-clonic seizures (also known as grand mal seizures), which |
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cause muscle rigidity, convulsions, and loss of consciousness. Affected |
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individuals can also have absence seizures, which cause loss of consciousness |
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for a short period that may or may not be accompanied by muscle jerks. In |
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SMA-PME, seizures often increase in frequency over time and are usually not |
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well-controlled with medication. Individuals with SMA-PME may also have episodes |
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of rhythmic shaking (tremors), usually in the hands; these tremors are not |
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thought to be related to epilepsy. |
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html:p |
Some people with SMA-PME develop hearing loss caused by nerve damage in the |
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inner ear (sensorineural hearing loss). |
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html:p |
Individuals with SMA-PME have a shortened lifespan; they generally live into |
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late childhood or early adulthood. The cause of death is often respiratory |
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failure or pneumonia. |
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related-gene-list |
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Spinal muscular atrophy with respiratory distress type 1 |
https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-respiratory-distr |
SMARD1 appears to be a rare condition, but its prevalence is unknown. More |
html:p |
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an |
ar |
autosomal recessive |
IGHMBP2 |
https://ghr.nlm.nih.gov/gene/IGHMBP2 |
autosomal recessive distal spinal muscular atrophy 1 |
db |
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2013-01 |
2017-12-29 |
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脊髓性肌萎縮症合併呼吸窘迫第一型 |
ess-type-1 |
than 60 cases have been reported in the scientific literature. |
inherited condition that causes muscle weakness and respiratory failure |
DHMN6 |
GTR |
C1858517 |
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typically beginning in infancy. Early features of this condition are difficult |
diaphragmatic spinal muscular atrophy |
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and noisy breathing, especially when inhaling; a weak cry; problems feeding; and |
distal hereditary motor neuronopathy type VI |
MeSH |
D014897 |
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recurrent episodes of pneumonia. Typically between the ages of 6 weeks and 6 |
distal spinal muscular atrophy type 1 |
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months, infants with this condition will experience a sudden inability to |
DSMA1 |
OMIM |
604320 |
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breathe due to paralysis of the muscle that separates the abdomen from the chest |
HMN6 |
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cavity (the diaphragm). Normally, the diaphragm contracts and moves downward |
HMNVI |
Orphanet |
98920 |
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during inhalation to allow the lungs to expand. With diaphragm paralysis, |
severe infantile axonal neuropathy with respiratory failure |
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affected individuals require life-long support with a machine to help them |
SIANRF |
SNOMED CT |
711483003 |
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breathe (mechanical ventilation). Rarely, children with SMARD1 develop signs or |
SMARD1 |
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symptoms of the disorder later in childhood. |
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spinal muscular atrophy with respiratory distress |
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html:p |
Soon after respiratory failure occurs, individuals with SMARD1 develop muscle |
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weakness in their distal muscles. These are the muscles farther from the center |
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of the body, such as muscles in the hands and feet. The weakness soon spreads to |
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all muscles; however, within 2 years, the muscle weakness typically stops |
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getting worse. Some individuals may retain a low level of muscle function, while |
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others lose all ability to move their muscles. Muscle weakness severely |
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impairs motor development, such as sitting, standing, and walking. Some affected |
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children develop an abnormal side-to-side and back-to-front curvature of the |
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spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur |
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together). After approximately the first year of life, individuals with SMARD1 |
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may lose their deep tendon reflexes, such as the reflex being tested when a |
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doctor taps the knee with a hammer. |
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html:p |
Other features of SMARD1 can include reduced pain sensitivity, excessive |
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sweating (hyperhidrosis), loss of bladder and bowel control, and an irregular |
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heartbeat (arrhythmia). |
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related-gene-list |
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Spinocerebellar ataxia type 1, SCA |
https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-1 |
SCA1 affects 1 to 2 per 100,000 people worldwide. |
html:p |
Spinocerebellar ataxia type 1 (SCA1) is a condition characterized by progressive |
ad |
autosomal dominant |
ATXN1 |
https://ghr.nlm.nih.gov/gene/ATXN1 |
olivopontocerebellar atrophy I |
db |
key |
2011-02 |
2017-12-29 |
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脊髓小腦退化性動作協調障礙 |
problems with movement. People with this condition initially experience |
SCA1 |
GTR |
C0752120 |
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脊髓小腦萎縮症第1型 |
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problems with coordination and balance (ataxia). Other signs and symptoms of |
spinocerebellar atrophy I |
db |
key |
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SCA1 include speech and swallowing difficulties, muscle stiffness (spasticity), |
type 1 spinocerebellar ataxia |
GeneReviews |
sca1 |
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and weakness in the muscles that control eye movement (ophthalmoplegia). Eye |
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key |
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muscle weakness leads to rapid, involuntary eye movements (nystagmus). |
MeSH |
D020754 |
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Individuals with SCA1 may have difficulty processing, learning, and remembering |
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key |
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information (cognitive impairment). |
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OMIM |
164400 |
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html:p |
Over time, individuals with SCA1 may develop numbness, tingling, or pain in the |
db |
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arms and legs (sensory neuropathy); uncontrolled muscle tensing (dystonia); |
Orphanet |
98755 |
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muscle wasting (atrophy); and muscle twitches (fasciculations). Rarely, |
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key |
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rigidity, tremors, and involuntary jerking movements (chorea) have been reported |
SNOMED CT |
715748006 |
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in people who have been affected for many years. |
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html:p |
Signs and symptoms of the disorder typically begin in early adulthood but can |
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appear anytime from childhood to late adulthood. People with SCA1 typically |
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survive 10 to 20 years after symptoms first appear. |
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related-gene-list |
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Spinocerebellar ataxia type 2 |
https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-2 |
The prevalence of SCA2 is unknown. This condition is estimated to be one of |
html:p |
Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive |
ad |
autosomal dominant |
ATXN2 |
https://ghr.nlm.nih.gov/gene/ATXN2 |
SCA2 |
db |
key |
2011-02 |
2017-12-29 |
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脊髓小腦退化性動作協調障礙2型 |
the most common types of spinocerebellar ataxia; however, all types of |
problems with movement. People with this condition initially experience |
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GTR |
C0752121 |
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spinocerebellar ataxia are relatively rare. SCA2 is more common in Cuba, |
problems with coordination and balance (ataxia). Other early signs and symptoms |
db |
key |
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particularly in the Holguín province, where approximately 40 per 100,000 |
of SCA2 include speech and swallowing difficulties, rigidity, tremors, and |
|
GeneReviews |
sca2 |
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individuals are affected. |
weakness in the muscles that control eye movement (ophthalmoplegia). Eye muscle |
db |
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weakness leads to a decreased ability to make rapid eye movements (saccadic |
MeSH |
D020754 |
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slowing). |
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db |
key |
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html:p |
Over time, individuals with SCA2 may develop loss of sensation and weakness in |
OMIM |
183090 |
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the limbs (peripheral neuropathy), muscle wasting (atrophy), uncontrolled muscle |
db |
key |
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tensing (dystonia), and involuntary jerking movements (chorea). Individuals |
SNOMED CT |
715751004 |
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with SCA2 may have problems with short term memory, planning, and problem |
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solving, or experience an overall decline in intellectual function (dementia). |
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html:p |
Signs and symptoms of the disorder typically begin in mid-adulthood but can |
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appear anytime from childhood to late adulthood. People with SCA2 usually |
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survive 10 to 20 years after symptoms first appear. |
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related-gene-list |
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Spinocerebellar ataxia type 3 |
https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-3 |
The prevalence of SCA3 is unknown. This condition is thought to be the most |
html:p |
Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive |
ad |
autosomal dominant |
ATXN3 |
https://ghr.nlm.nih.gov/gene/ATXN3 |
Azorean ataxia |
db |
key |
2011-02 |
2017-12-29 |
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脊髓小腦退化性動作協調障礙3型 |
common type of spinocerebellar ataxia; however, all types of spinocerebellar |
problems with movement. People with this condition initially experience |
Azorean disease |
GTR |
C0024408 |
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ataxia are relatively rare. |
problems with coordination and balance (ataxia). Other early signs and symptoms |
Machado-Joseph disease |
db |
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of SCA3 include speech difficulties, uncontrolled muscle tensing (dystonia), |
MJD |
GeneReviews |
sca3 |
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muscle stiffness (spasticity), rigidity, tremors, bulging eyes, and double |
SCA3 |
db |
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vision. People with this condition may experience sleep disorders such as |
MeSH |
D017827 |
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restless leg syndrome or REM sleep behavior disorder. Restless leg syndrome is a |
db |
key |
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condition characterized by numbness or tingling in the legs accompanied by an |
OMIM |
109150 |
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urge to move the legs to stop the sensations. REM sleep behavior disorder is a |
db |
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condition in which the muscles are active during the dream (REM) stage of sleep, |
SNOMED CT |
91952008 |
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so an affected person often acts out his or her dreams. These sleep disorders |
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tend to leave affected individuals feeling tired during the day. |
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html:p |
Over time, individuals with SCA3 may develop loss of sensation and weakness in |
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the limbs (peripheral neuropathy), muscle cramps, muscle twitches |
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(fasciculations), and swallowing difficulties. Individuals with SCA3 may have |
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problems with memory, planning, and problem solving. |
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html:p |
Signs and symptoms of the disorder typically begin in mid-adulthood but can |
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appear anytime from childhood to late adulthood. People with SCA3 eventually |
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require wheelchair assistance. They usually survive 10 to 20 years after |
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symptoms first appear. |
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related-gene-list |
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Spinocerebellar ataxia type 36 |
https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-36 |
Approximately 100 individuals with SCA36 have been reported in the |
html:p |
Spinocerebellar ataxia type 36 (SCA36) is a condition characterized by |
ad |
autosomal dominant |
NOP56 |
https://ghr.nlm.nih.gov/gene/NOP56 |
Asidan ataxia |
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2014-12 |
2017-12-29 |
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脊髓小腦退化性動作協調障礙36型 |
scientific literature. Almost all of these individuals have been from two |
progressive problems with movement that typically begin in mid-adulthood. People |
Costa de Morte ataxia |
GTR |
C3472711 |
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regions: western Japan and the Costa de Morte in Galicia, Spain. |
with this condition initially experience problems with coordination and balance |
SCA36 |
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(ataxia). Affected individuals often have exaggerated reflexes (hyperreflexia) |
spinocerebellar ataxia 36 |
GeneReviews |
sca36 |
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and problems with speech (dysarthria). They also usually develop muscle twitches |
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(fasciculations) of the tongue and over time, the muscles in the tongue waste |
MeSH |
D020754 |
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away (atrophy). These tongue problems can cause difficulties swallowing liquids. |
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As the condition progresses, individuals with SCA36 develop muscle atrophy in |
OMIM |
614153 |
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the legs, forearms, and hands. Another common feature of SCA36 is the atrophy of |
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specialized nerve cells that control muscle movement (motor neurons), which can |
Orphanet |
276198 |
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contribute to the tongue and limb muscle atrophy in affected individuals. |
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html:p |
Some people with SCA36 have abnormalities of the eye muscles, which can lead to |
SNOMED CT |
711158005 |
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involuntary eye movements (nystagmus), rapid eye movements (saccades), trouble |
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moving the eyes side-to-side (oculomotor apraxia), and droopy eyelids (ptosis). |
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Sensorineural hearing loss, which is hearing loss caused by changes in the inner |
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ear, may also occur in people with SCA36. |
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html:p |
Brain imaging of people with SCA36 shows progressive atrophy of various parts of |
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the brain, particularly within the cerebellum, which is the area of the brain |
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involved in coordinating movements. Over time, the loss of cells in the |
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cerebellum causes the movement problems characteristic of SCA36. In older |
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affected individuals, the frontal lobes of the brain may show atrophy resulting |
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in loss of executive function, which is the ability to plan and implement |
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actions and develop problem-solving strategies. |
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html:p |
Signs and symptoms of SCA36 typically begin in a person's forties or fifties but |
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can appear anytime during adulthood. People with SCA36 have a normal lifespan |
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and are usually mobile for 15 to 20 years after they are diagnosed. |
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related-gene-list |
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Spinocerebellar ataxia type 6 |
https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6 |
The worldwide prevalence of SCA6 is estimated to be less than 1 in 100,000 |
html:p |
Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive |
ad |
autosomal dominant |
CACNA1A |
https://ghr.nlm.nih.gov/gene/CACNA1A |
SCA6 |
db |
key |
2011-02 |
2017-12-29 |
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脊髓小腦退化性動作協調障礙6型 |
individuals. |
problems with movement. People with this condition initially experience |
type 6 spinocerebellar ataxia |
GTR |
C0752124 |
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problems with coordination and balance (ataxia). Other early signs and symptoms |
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of SCA6 include speech difficulties, involuntary eye movements (nystagmus), and |
GeneReviews |
sca6 |
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double vision. Over time, individuals with SCA6 may develop loss of coordination |
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in their arms, tremors, and uncontrolled muscle tensing (dystonia). |
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MeSH |
D020754 |
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html:p |
Signs and symptoms of SCA6 typically begin in a person's forties or fifties but |
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can appear anytime from childhood to late adulthood. Most people with this |
OMIM |
183086 |
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disorder require wheelchair assistance by the time they are in their sixties. |
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Orphanet |
98758 |
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Split-Hand/Foot Malformation |
https://rarediseases.info.nih.gov/diseases/6319/split-hand-foot-malformation |
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Split-hand Split-foot malformation (SHFM) |
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裂手裂足症 |
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related-gene-list |
|
SNOMED CT |
715752006 |
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Spondylocarpotarsal synostosis syndrome |
https://ghr.nlm.nih.gov/condition/spondylocarpotarsal-synostosis-syndrome |
Spondylocarpotarsal synostosis syndrome is a rare disorder; its prevalence |
html:p |
Spondylocarpotarsal synostosis syndrome is a disorder that affects the |
ad |
autosomal dominant |
FLNB |
https://ghr.nlm.nih.gov/gene/FLNB |
congenital scoliosis with unilateral unsegmented bar |
db |
key |
2011-09 |
2017-12-29 |
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is unknown. At least 25 affected individuals have been identified. |
development of bones throughout the body. Newborns with this disorder are of |
code |
memo |
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congenital synspondylism |
GTR |
C1848934 |
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approximately normal length, but impaired growth of the trunk results in short |
ar |
autosomal recessive |
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SCT |
db |
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stature over time. The bones of the spine (vertebrae) are misshapen and |
SCT syndrome |
GeneReviews |
flnb-dis |
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abnormally joined together (fused). The vertebral abnormalities may result in an |
spondylocarpotarsal syndrome |
db |
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abnormally curved lower back (lordosis) and a spine that curves to the side |
vertebral fusion with carpal coalition |
MeSH |
D010009 |
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(scoliosis). |
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db |
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html:p |
Affected individuals also have abnormalities of the wrist (carpal) and ankle |
OMIM |
272460 |
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(tarsal) bones and inward- and upward-turning feet (clubfeet). Characteristic |
db |
key |
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facial features include a round face, a large forehead (frontal bossing), and |
Orphanet |
3275 |
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nostrils that open to the front rather than downward (anteverted nares). |
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html:p |
Some people with spondylocarpotarsal synostosis syndrome have an opening in the |
SNOMED CT |
702351004 |
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roof of the mouth (a cleft palate), hearing loss, thin tooth enamel, flat feet, |
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or an unusually large range of joint movement (hypermobility). Individuals with |
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this disorder can survive into adulthood. Intelligence is generally unaffected, |
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although mild developmental delay has been reported in some affected |
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individuals. |
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related-gene-list |
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Spondylocostal dysostosis |
https://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis |
Spondylocostal dysostosis is a rare condition, although its exact |
html:p |
Spondylocostal dysostosis is a group of conditions characterized by abnormal |
ad |
autosomal dominant |
DLL3 |
https://ghr.nlm.nih.gov/gene/DLL3 |
Jarcho-Levin syndrome |
db |
key |
2016-06 |
2017-12-29 |
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脊椎骨質疏鬆症 |
prevalence is unknown. |
development of bones in the spine and ribs. The bones of the spine (vertebrae) |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
SCDO |
GTR |
C0265343 |
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are misshapen and abnormally joined together (fused). Many people with this |
ar |
autosomal recessive |
HES7 |
https://ghr.nlm.nih.gov/gene/HES7 |
db |
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condition have abnormal side-to-side curvature of the spine (scoliosis) due to |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1837549 |
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malformation of the vertebrae. In addition to spinal abnormalities, some of the |
LFNG |
https://ghr.nlm.nih.gov/gene/LFNG |
db |
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rib bones may be fused together or missing. Affected individuals have short, |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1852521 |
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rigid necks and short torsos because of the bone malformations. As a result, |
MESP2 |
https://ghr.nlm.nih.gov/gene/MESP2 |
db |
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people with spondylocostal dysostosis have short bodies but normal-length arms |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1853296 |
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and legs, called short-trunk dwarfism. |
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RIPPLY2 |
https://ghr.nlm.nih.gov/gene/RIPPLY2 |
db |
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html:p |
The spine and rib abnormalities, which are present from birth, cause other signs |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3150942 |
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and symptoms of spondylocostal dysostosis. Infants with this condition have |
TBX6 |
https://ghr.nlm.nih.gov/gene/TBX6 |
db |
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small chests that cannot expand adequately, often leading to life-threatening |
GTR |
C4225279 |
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breathing problems. As the lungs expand in the narrow chest, the muscle that |
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separates the abdomen from the chest cavity (the diaphragm) is forced down and |
GTR |
CN032975 |
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the abdomen is pushed out. The increased pressure in the abdomen can cause a |
db |
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soft out-pouching around the lower abdomen (inguinal hernia), particularly in |
GeneReviews |
spondylocostal-d |
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males with spondylocostal dysostosis. |
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db |
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html:p |
Some people with spondylocostal dysostosis also have a type of birth defect |
MeSH |
D004413 |
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known as a neural tube defect. Neural tube defects occur when a structure called |
db |
key |
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the neural tube, a layer of cells that ultimately develops into the brain and |
OMIM |
122600 |
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spinal cord, fails to close completely during the first few weeks of embryonic |
db |
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development. Examples of neural tube defects that occur in people with |
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OMIM |
277300 |
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spondylocostal dysostosis include a spinal cord abnormality known as spina |
db |
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bifida and a brain abnormality called a Chiari malformation. |
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OMIM |
608681 |
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html:p |
Although breathing problems can be fatal early in life, many affected |
db |
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individuals live into adulthood. |
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OMIM |
609813 |
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html:p |
Spondylocostal dysostosis has often been grouped with a similar condition called |
db |
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spondylothoracic dysostosis, and both are sometimes called Jarcho-Levin |
OMIM |
613686 |
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syndrome; however, they are now considered distinct conditions. |
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db |
key |
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OMIM |
616566 |
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db |
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Orphanet |
1797 |
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db |
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Orphanet |
2311 |
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db |
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related-gene-list |
|
SNOMED CT |
61367005 |
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Spondyloenchondrodysplasia with immune dysregulation |
https://ghr.nlm.nih.gov/condition/spondyloenchondrodysplasia-with-immune-dysregu |
SPENCDI appears to be a rare condition, although its prevalence is unknown. |
html:p |
Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an inherited |
ar |
autosomal recessive |
ACP5 |
https://ghr.nlm.nih.gov/gene/ACP5 |
combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia |
db |
key |
2013-12 |
2017-12-29 |
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condition that primarily affects bone growth and immune system function. The |
Roifman-Melamed syndrome |
GTR |
C1842763 |
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signs and symptoms of SPENCDI can become apparent anytime from infancy to |
Roifman–Costa syndrome |
db |
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adolescence. |
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SPENCDI |
MeSH |
D007153 |
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html:p |
Bone abnormalities in individuals with SPENCDI include flattened spinal bones |
db |
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(platyspondyly), abnormalities at the ends of long bones in the limbs |
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MeSH |
D010009 |
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(metaphyseal dysplasia), and areas of damage (lesions) on the long bones and |
db |
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spinal bones that can be seen on x-rays. Additional skeletal problems occur |
OMIM |
607944 |
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because of abnormalities of the tough, flexible tissue called cartilage that |
db |
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makes up much of the skeleton during early development. Individuals with SPENCDI |
Orphanet |
50816 |
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often have areas where cartilage did not convert to bone. They may also have |
db |
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noncancerous growths of cartilage (enchondromas). The bone and cartilage |
SNOMED CT |
703523004 |
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problems contribute to short stature in people with SPENCDI. |
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Individuals with SPENCDI have a combination of immune system problems. Many |
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affected individuals have malfunctioning immune systems that attack the body's |
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own tissues and organs, which is known as an autoimmune reaction. The |
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malfunctioning immune system can lead to a variety of disorders, such as a |
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decrease in blood cell fragments called platelets (thrombocytopenia), premature |
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destruction of red blood cells (hemolytic anemia), an underactive thyroid gland |
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(hypothyroidism), or chronic inflammatory disorders such as systemic lupus |
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erythematosus or rheumatoid arthritis. In addition, affected individuals often |
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have abnormal immune cells that cannot grow and divide in response to harmful |
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invaders such as bacteria and viruses. As a result of this immune deficiency, |
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these individuals have frequent fevers and recurrent respiratory infections. |
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html:p |
Some people with SPENCDI have neurological problems such as abnormal muscle |
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stiffness (spasticity), difficulty with coordinating movements (ataxia), and |
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intellectual disability. They may also have abnormal deposits of calcium |
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(calcification) in the brain. |
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html:p |
Due to the range of immune system problems, people with SPENCDI typically have |
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a shortened life expectancy, but figures vary widely. |
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spondyloepimetaphyseal dysplasia with joint laxity 2,SEMDJL2 |
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脊椎干骺端發育不良 |
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related-gene-list |
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Spondyloepimetaphyseal dysplasia, Strudwick type |
https://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type |
This condition is rare; only a few affected individuals have been reported |
html:p |
Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of |
ad |
autosomal dominant |
COL2A1 |
https://ghr.nlm.nih.gov/gene/COL2A1 |
Dappled metaphysis syndrome |
db |
key |
2008-07 |
2017-12-29 |
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worldwide. |
bone growth that results in short stature (dwarfism), skeletal abnormalities, |
SED Strudwick |
GTR |
C0700635 |
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and problems with vision. This condition affects the bones of the spine |
SEMD, Strudwick type |
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key |
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(spondylo-) and two regions (epiphyses and metaphyses) near the ends of long |
SMED, Strudwick type |
MeSH |
D003095 |
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bones in the arms and legs. The Strudwick type was named after the first |
SMED, type I |
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reported patient with the disorder. |
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Spondylometaepiphyseal dysplasia congenita, Strudwick type |
MeSH |
D010009 |
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html:p |
People with this condition have short stature from birth, with a very short |
Spondylometaphyseal dysplasia (SMD) |
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trunk and shortened limbs. Their hands and feet, however, are usually |
Strudwick syndrome |
OMIM |
184250 |
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average-sized. Affected individuals may have an abnormally curved lower back |
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(lordosis) or a spine that curves to the side (scoliosis). This abnormal spinal |
Orphanet |
252 |
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curvature may be severe and can cause problems with breathing. Instability of |
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the spinal bones (vertebrae) in the neck may increase the risk of spinal cord |
SNOMED CT |
702350003 |
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damage. Other skeletal features include flattened vertebrae (platyspondyly), |
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severe protrusion of the breastbone (pectus carinatum), an abnormality of the |
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hip joint that causes the upper leg bones to turn inward (coxa vara), and an |
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inward- and upward-turning foot (clubfoot). Arthritis may develop early in |
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life. |
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html:p |
People with spondyloepimetaphyseal dysplasia, Strudwick type have mild changes |
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in their facial features. Some infants are born with an opening in the roof of |
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the mouth (a cleft palate) and their cheekbones may appear flattened. Eye |
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problems that can impair vision are common, such as severe nearsightedness (high |
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myopia) and tearing of the lining of the eye (retinal detachment). |
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Spondyloepiphyseal dysplasia Tarda |
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遲發性脊椎骨發育不全 |
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related-gene-list |
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Spondyloepiphyseal dysplasia congenita (SEDC) |
https://ghr.nlm.nih.gov/condition/spondyloepiphyseal-dysplasia-congenita |
This condition is rare; the exact incidence is unknown. More than 175 |
html:p |
Spondyloepiphyseal dysplasia congenita is an inherited bone growth disorder that |
ad |
autosomal dominant |
COL2A1 |
https://ghr.nlm.nih.gov/gene/COL2A1 |
SED congenita |
db |
key |
2016-04 |
2017-12-29 |
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先天性脊椎骨骨后發育不全 |
cases have been reported in the scientific literature. |
results in short stature (dwarfism), skeletal abnormalities, and problems with |
SED, congenital type |
GTR |
C0038015 |
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vision and hearing. This condition affects the bones of the spine (spondylo-) |
SEDc |
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key |
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and the ends (epiphyses) of long bones in the arms and legs. Congenita indicates |
Spondyloepiphyseal dysplasia, congenital type |
ICD-10-CM |
Q77.7 |
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that the condition is present from birth. |
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html:p |
People with spondyloepiphyseal dysplasia congenita have short stature from |
MeSH |
D010009 |
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birth, with a very short trunk and neck and shortened limbs. Their hands and |
db |
key |
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feet, however, are usually average-sized. Adult height ranges from 3 feet to |
OMIM |
183900 |
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just over 4 feet. Abnormal curvature of the spine (kyphoscoliosis and lordosis) |
db |
key |
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becomes more severe during childhood. Instability of the spinal bones |
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Orphanet |
253 |
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(vertebrae) in the neck may increase the risk of spinal cord damage. Other |
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skeletal features include flattened vertebrae (platyspondyly); an abnormality of |
SNOMED CT |
278713008 |
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the hip joint that causes the upper leg bones to turn inward (coxa vara); a |
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foot deformity called a clubfoot; and a broad, barrel-shaped chest. Abnormal |
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development of the chest can cause problems with breathing. Arthritis and |
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decreased joint mobility often develop early in life. |
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html:p |
People with spondyloepiphyseal dysplasia congenita have mild changes in their |
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facial features. The cheekbones close to the nose may appear flattened. Some |
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infants are born with an opening in the roof of the mouth (a cleft palate). |
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Severe nearsightedness (high myopia) is common, as are other eye problems that |
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can impair vision. About one quarter of people with this condition have hearing |
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loss. |
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related-gene-list |
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Spondyloperipheral dysplasia |
https://ghr.nlm.nih.gov/condition/spondyloperipheral-dysplasia |
This condition is rare; only a few affected individuals have been reported |
html:p |
Spondyloperipheral dysplasia is a disorder that impairs bone growth. This |
ad |
autosomal dominant |
COL2A1 |
https://ghr.nlm.nih.gov/gene/COL2A1 |
SPD |
db |
key |
2008-07 |
2017-12-29 |
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脊柱外周发育不良 |
worldwide. |
condition is characterized by flattened bones of the spine (platyspondyly) and |
spondyloperipheral dysplasia with short ulna |
GTR |
C0796173 |
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unusually short fingers and toes (brachydactyly), with the exception of the |
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key |
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first (big) toes. Other skeletal abnormalities associated with |
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MeSH |
D003095 |
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spondyloperipheral dysplasia include short stature, shortened long bones of the |
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key |
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arms and legs, exaggerated curvature of the lower back (lordosis), and an |
MeSH |
D010009 |
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inward- and upward-turning foot (clubfoot). Additionally, some affected |
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key |
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individuals have nearsightedness (myopia), hearing loss, and intellectual |
OMIM |
271700 |
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disability. |
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Orphanet |
1856 |
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db |
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related-gene-list |
|
SNOMED CT |
702339001 |
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Spondylothoracic dysostosis |
https://ghr.nlm.nih.gov/condition/spondylothoracic-dysostosis |
Spondylothoracic dysostosis affects about one in 200,000 people worldwide. |
html:p |
Spondylothoracic dysostosis is a condition characterized by malformation of the |
ar |
autosomal recessive |
MESP2 |
https://ghr.nlm.nih.gov/gene/MESP2 |
Jarcho-Levin syndrome |
db |
key |
2016-06 |
2017-12-29 |
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脊椎胸部发育不良 |
However, it is much more common in people of Puerto Rican ancestry, affecting |
bones of the spine and ribs. The bones of the spine (vertebrae) do not develop |
STD |
GTR |
C0265343 |
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approximately one in 12,000 people. |
properly, which causes them to be misshapen and abnormally joined together |
db |
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(fused). The ribs are also fused at the part nearest the spine (posteriorly), |
GeneReviews |
spondylocostal-d |
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which gives the rib cage its characteristic fan-like or "crab" appearance in |
db |
key |
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x-rays. Affected individuals have short, rigid necks and short torsos because |
MeSH |
D004413 |
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of the bone malformations. As a result, people with spondylothoracic dysostosis |
db |
key |
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have short bodies but normal-length arms and legs, called short-trunk dwarfism. |
SNOMED CT |
61367005 |
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html:p |
The spine and rib abnormalities, which are present from birth, cause other signs |
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and symptoms of spondylothoracic dysostosis. Infants with this condition have |
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small chests that cannot expand adequately, often leading to life-threatening |
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breathing problems. As the lungs expand in the narrow chest, the muscle that |
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separates the abdomen from the chest cavity (the diaphragm) is forced down and |
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the abdomen is pushed out. The increased pressure in the abdomen can cause a |
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soft out-pouching around the lower abdomen (inguinal hernia) or belly-button |
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(umbilical hernia). |
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html:p |
Breathing problems can be fatal early in life; however, some affected |
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individuals live into adulthood. |
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html:p |
Spondylothoracic dysostosis is sometimes called spondylocostal dysostosis, a |
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similar condition with abnormalities of the spine and ribs. The two conditions |
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have been grouped in the past, and both are sometimes referred to as |
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Jarcho-Levin syndrome; however, they are now considered distinct conditions. |
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related-gene-list |
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Sporadic hemiplegic migraine |
https://ghr.nlm.nih.gov/condition/sporadic-hemiplegic-migraine |
The worldwide prevalence of sporadic hemiplegic migraine is unknown. |
html:p |
Sporadic hemiplegic migraine is a rare form of migraine headache. Migraines |
ad |
autosomal dominant |
ATP1A2 |
https://ghr.nlm.nih.gov/gene/ATP1A2 |
non-familial hemiplegic migraine |
db |
key |
2017-10 |
2017-12-29 |
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散發性偏癱性偏頭痛 |
Studies suggest that in Denmark about 1 in 10,000 people have hemiplegic |
typically cause intense, throbbing pain in one area of the head. Some people |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
SHM |
GTR |
C1832903 |
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migraine and that the condition occurs equally in families with multiple |
with migraines also experience nausea, vomiting, and sensitivity to light and |
n |
not inherited |
CACNA1A |
https://ghr.nlm.nih.gov/gene/CACNA1A |
db |
key |
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affected individuals (familial hemiplegic migraine) and in individuals with no |
sound. These recurrent headaches typically begin in childhood or adolescence and |
ICD-10-CM |
G43.4 |
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family history of the condition (sporadic hemiplegic migraine). |
can be triggered by certain foods, emotional stress, and minor head trauma. |
db |
key |
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Each headache may last from a few hours to a few days. |
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ICD-10-CM |
G43.40 |
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html:p |
In sporadic hemiplegic migraine and some other types of migraine, a pattern of |
db |
key |
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neurological symptoms called an aura occurs before onset of the headache. An |
ICD-10-CM |
G43.41 |
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aura commonly includes temporary visual changes such as blind spots (scotomas), |
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flashing lights, zig-zagging lines, and double vision. In people with sporadic |
ICD-10-CM |
G43.401 |
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hemiplegic migraine, auras are also characterized by temporary numbness or |
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weakness, often affecting one side of the body (hemiparesis). Additional |
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ICD-10-CM |
G43.409 |
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features of an aura can include difficulty with speech, confusion, and |
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drowsiness. An aura typically develops gradually over a few minutes and lasts |
ICD-10-CM |
G43.411 |
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about an hour. |
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html:p |
Some people with sporadic hemiplegic migraine experience unusually severe |
ICD-10-CM |
G43.419 |
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migraine episodes. These episodes can include fever, prolonged weakness, |
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seizures, and coma. Although most people with sporadic hemiplegic migraine |
MeSH |
D020325 |
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recover completely between episodes, neurological symptoms such as memory loss |
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and problems with attention can last for weeks or months. Some affected |
Orphanet |
569 |
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individuals develop mild but permanent difficulty coordinating movements |
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(ataxia), which may worsen with time, and rapid, involuntary eye movements |
SNOMED CT |
230464001 |
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called nystagmus. Mild to severe intellectual disability has been reported in |
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some people with sporadic hemiplegic migraine. |
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related-gene-list |
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Stargardt macular degeneration |
https://ghr.nlm.nih.gov/condition/stargardt-macular-degeneration |
Stargardt macular degeneration is the most common form of juvenile macular |
html:p |
Stargardt macular degeneration is a genetic eye disorder that causes progressive |
ad |
autosomal dominant |
ABCA4 |
https://ghr.nlm.nih.gov/gene/ABCA4 |
juvenile macular degeneration |
db |
key |
2010-11 |
2017-12-29 |
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Stargardt’s disease |
degeneration, the signs and symptoms of which begin in childhood. The estimated |
vision loss. This disorder affects the retina, the specialized light-sensitive |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
macular dystrophy with flecks, type 1 |
GTR |
C1838644 |
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Stargardt's氏症 |
prevalence of Stargardt macular degeneration is 1 in 8,000 to 10,000 |
tissue that lines the back of the eye. Specifically, Stargardt macular |
ar |
autosomal recessive |
ELOVL4 |
https://ghr.nlm.nih.gov/gene/ELOVL4 |
Stargardt disease |
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斯特格氏病 |
individuals. |
degeneration affects a small area near the center of the retina called the |
STGD |
GTR |
C1855465 |
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(Vision) |
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macula. The macula is responsible for sharp central vision, which is needed for |
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detailed tasks such as reading, driving, and recognizing faces. In most people |
GTR |
C1863534 |
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with Stargardt macular degeneration, a fatty yellow pigment (lipofuscin) builds |
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up in cells underlying the macula. Over time, the abnormal accumulation of this |
ICD-10-CM |
H35.53 |
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substance can damage cells that are critical for clear central vision. In |
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addition to central vision loss, people with Stargardt macular degeneration have |
MeSH |
D008268 |
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problems with night vision that can make it difficult to navigate in low light. |
db |
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Some affected individuals also have impaired color vision. The signs and |
OMIM |
248200 |
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symptoms of Stargardt macular degeneration typically appear in late childhood to |
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early adulthood and worsen over time. |
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OMIM |
600110 |
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Orphanet |
827 |
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SNOMED CT |
47673003 |
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related-gene-list |
|
SNOMED CT |
70099003 |
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Steatocystoma multiplex |
https://ghr.nlm.nih.gov/condition/steatocystoma-multiplex |
Although the prevalence of steatocystoma multiplex is unknown, it appears |
html:p |
Steatocystoma multiplex is a skin disorder characterized by the development of |
ad |
autosomal dominant |
KRT17 |
https://ghr.nlm.nih.gov/gene/KRT17 |
multiple sebaceous cysts |
db |
key |
2016-09 |
2017-12-29 |
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多發性皮脂囊腫 |
to be rare. |
multiple noncancerous (benign) cysts known as steatocystomas. These growths |
multiplex steatocystoma |
GTR |
C0259771 |
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begin in the skin's sebaceous glands, which normally produce an oily substance |
sebocystomatosis |
db |
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called sebum that lubricates the skin and hair. Steatocystomas are filled with |
ICD-10-CM |
L72.2 |
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sebum. |
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html:p |
In affected individuals, steatocystomas typically first appear during |
MeSH |
D062685 |
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adolescence and are found most often on the torso, neck, upper arms, and upper |
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legs. These cysts are usually the only sign of the condition. However, some |
OMIM |
184500 |
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affected individuals also have mild abnormalities involving the teeth or the |
db |
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fingernails and toenails. |
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Orphanet |
3184 |
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db |
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related-gene-list |
|
SNOMED CT |
109433009 |
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Stevens-Johnson syndrome/toxic epidermal necrolysis |
https://ghr.nlm.nih.gov/condition/stevens-johnson-syndrome-toxic-epidermal-necrolysis |
SJS/TEN is a rare disease, affecting 1 to 2 per million people each year. |
html:p |
Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin |
n |
not inherited |
HLA-B |
https://ghr.nlm.nih.gov/gene/HLA-B |
drug-induced Stevens Johnson syndrome |
db |
key |
2015-07 |
2017-12-29 |
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Stevens-Johnson syndrome (the less severe form of the condition) is more common |
reaction most often triggered by particular medications. Although |
Lyell's syndrome |
GTR |
C0014518 |
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than toxic epidermal necrolysis.People who are HIV-positive and those with a |
Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be |
mycoplasma-induced Stevens Johnson syndrome |
db |
key |
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chronic inflammatory disease called systemic lupus erythematosus are more likely |
separate conditions, they are now considered part of a continuum. |
Stevens-Johnson syndrome |
GTR |
C0038325 |
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to develop SJS/TEN than the general population. The reason for the increased |
Stevens-Johnson syndrome represents the less severe end of the disease spectrum, |
Stevens-Johnson syndrome toxic epidermal necrolysis spectrum |
db |
key |
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risk is unclear, but immune system factors and exposure to multiple medications |
and toxic epidermal necrolysis represents the more severe end. |
toxic epidermal necrolysis |
ICD-10-CM |
L51.1 |
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may play a role. |
html:p |
SJS/TEN often begins with a fever and flu-like symptoms. Within a few days, the |
db |
key |
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skin begins to blister and peel, forming very painful raw areas called erosions |
ICD-10-CM |
L51.3 |
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that resemble a severe hot-water burn. The skin erosions usually start on the |
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face and chest before spreading to other parts of the body. In most affected |
MeSH |
D013262 |
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individuals, the condition also damages the mucous membranes, including the |
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lining of the mouth and the airways, which can cause trouble with swallowing and |
OMIM |
608579 |
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breathing. The painful blistering can also affect the urinary tract and |
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genitals. SJS/TEN often affects the eyes as well, causing irritation and redness |
Orphanet |
36426 |
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of the conjunctiva, which are the mucous membranes that protect the white part |
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of the eye and line the eyelids, and damage to the clear front covering of the |
Orphanet |
95455 |
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eye (the cornea). |
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html:p |
Severe damage to the skin and mucous membranes makes SJS/TEN a life-threatening |
SNOMED CT |
1.2E+14 |
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disease. Because the skin normally acts as a protective barrier, extensive skin |
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damage can lead to a dangerous loss of fluids and allow infections to develop. |
SNOMED CT |
73442001 |
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Serious complications can include pneumonia, overwhelming bacterial infections |
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(sepsis), shock, multiple organ failure, and death. About 10 percent of people |
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with Stevens-Johnson syndrome die from the disease, while the condition is fatal |
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in up to 50 percent of those with toxic epidermal necrolysis. |
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html:p |
Among people who survive, long-term effects of SJS/TEN can include changes in |
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skin coloring (pigmentation), dryness of the skin and mucous membranes |
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(xerosis), excess sweating (hyperhidrosis), hair loss (alopecia), and abnormal |
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growth or loss of the fingernails and toenails. Other long-term problems can |
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include impaired taste, difficulty urinating, and genital abnormalities. A small |
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percentage of affected individuals develop chronic dryness or inflammation of |
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the eyes, which can lead to increased sensitivity to light (photophobia) and |
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vision impairment. |
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related-gene-list |
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Stickler syndrome |
https://ghr.nlm.nih.gov/condition/stickler-syndrome |
Stickler syndrome affects an estimated 1 in 7,500 to 9,000 newborns. Type I |
html:p |
Stickler syndrome is a group of hereditary conditions characterized by a |
ad |
autosomal dominant |
COL2A1 |
https://ghr.nlm.nih.gov/gene/COL2A1 |
hereditary arthro-ophthalmo-dystrophy |
db |
key |
2016-03 |
2017-12-29 |
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斯蒂克勒綜合徵 |
is the most common form of the condition. |
distinctive facial appearance, eye abnormalities, hearing loss, and joint |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
hereditary arthro-ophthalmopathy |
GTR |
C0265235 |
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Stickler 综合征 |
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problems. These signs and symptoms vary widely among affected individuals. |
ar |
autosomal recessive |
COL9A1 |
https://ghr.nlm.nih.gov/gene/COL9A1 |
Stickler dysplasia |
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html:p |
A characteristic feature of Stickler syndrome is a somewhat flattened facial |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0265253 |
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appearance. This appearance results from underdeveloped bones in the middle of |
COL9A2 |
https://ghr.nlm.nih.gov/gene/COL9A2 |
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the face, including the cheekbones and the bridge of the nose. A particular |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1852831 |
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group of physical features called Pierre Robin sequence is also common in people |
COL9A3 |
https://ghr.nlm.nih.gov/gene/COL9A3 |
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with Stickler syndrome. Pierre Robin sequence includes an opening in the roof |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1858084 |
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of the mouth (a cleft palate), a tongue that is placed further back than normal |
COL11A1 |
https://ghr.nlm.nih.gov/gene/COL11A1 |
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(glossoptosis), and a small lower jaw (micrognathia). This combination of |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1861481 |
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features can lead to feeding problems and difficulty breathing. |
COL11A2 |
https://ghr.nlm.nih.gov/gene/COL11A2 |
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html:p |
Many people with Stickler syndrome have severe nearsightedness (high myopia). In |
GTR |
C2020284 |
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some cases, the clear gel that fills the eyeball (the vitreous) has an abnormal |
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appearance, which is noticeable during an eye examination. Other eye problems |
GTR |
C3280342 |
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are also common, including increased pressure within the eye (glaucoma), |
db |
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clouding of the lens of the eyes (cataracts), and tearing of the lining of the |
GeneReviews |
stickler |
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eye (retinal detachment). These eye abnormalities cause impaired vision or |
db |
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blindness in some cases. |
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MeSH |
D003095 |
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html:p |
In people with Stickler syndrome, hearing loss varies in degree and may become |
db |
key |
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more severe over time. The hearing loss may be sensorineural, meaning that it |
OMIM |
108300 |
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results from changes in the inner ear, or conductive, meaning that it is caused |
db |
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by abnormalities of the middle ear. |
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OMIM |
154780 |
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html:p |
Most people with Stickler syndrome have skeletal abnormalities that affect the |
db |
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joints. The joints of affected children and young adults may be loose and very |
OMIM |
184840 |
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flexible (hypermobile), though joints become less flexible with age. Arthritis |
db |
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often appears early in life and may cause joint pain or stiffness. Problems with |
OMIM |
604841 |
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the bones of the spine (vertebrae) can also occur, including abnormal curvature |
db |
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of the spine (scoliosis or kyphosis) and flattened vertebrae (platyspondyly). |
OMIM |
609508 |
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These spinal abnormalities may cause back pain. |
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html:p |
Researchers have described several types of Stickler syndrome, which are |
OMIM |
614134 |
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distinguished by their genetic causes and their patterns of signs and symptoms. |
db |
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In particular, the eye abnormalities and severity of hearing loss differ among |
OMIM |
614284 |
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the types. Type I has the highest risk of retinal detachment. Type II also |
db |
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includes eye abnormalities, but type III does not (and is often called |
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Orphanet |
560 |
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non-ocular Stickler syndrome). Types II and III are more likely than type I to |
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have significant hearing loss. Types IV, V, and VI are very rare and have each |
Orphanet |
828 |
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been diagnosed in only a few individuals. |
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html:p |
A condition similar to Stickler syndrome, called Marshall syndrome, is |
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SNOMED CT |
33410002 |
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characterized by a distinctive facial appearance, eye abnormalities, hearing |
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loss, and early-onset arthritis. Marshall syndrome can also include short |
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SNOMED CT |
78675000 |
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stature. Some researchers have classified Marshall syndrome as a variant of |
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Stickler syndrome, while others consider it to be a separate disorder. |
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related-gene-list |
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STING-associated vasculopathy with onset in infancy |
https://ghr.nlm.nih.gov/condition/sting-associated-vasculopathy-with-onset-in-in |
The prevalence of this condition is unknown. Only a few affected |
html:p |
STING-associated vasculopathy with onset in infancy (SAVI) is a disorder |
ad |
autosomal dominant |
TMEM173 |
https://ghr.nlm.nih.gov/gene/TMEM173 |
SAVI |
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2014-10 |
2017-12-29 |
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fancy |
individuals have been described in the medical literature. |
involving abnormal inflammation throughout the body, especially in the skin, |
STING-associated vasculopathy, infantile onset |
GTR |
C4014722 |
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blood vessels, and lungs. Inflammation normally occurs when the immune system |
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sends signaling molecules and white blood cells to a site of injury or disease |
MeSH |
D056660 |
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to fight microbial invaders and help with tissue repair. Excessive inflammation |
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damages the body's own cells and tissues. Disorders such as SAVI that result |
OMIM |
615934 |
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from abnormally increased inflammation are known as autoinflammatory diseases. |
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html:p |
The signs and symptoms of SAVI begin in the first few months of life, and most |
Orphanet |
425120 |
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are related to problems with blood vessels (vasculopathy) and damage to the |
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tissues that rely on these vessels for their blood supply. Affected infants |
SNOMED CT |
711164003 |
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develop areas of severely damaged skin (lesions), particularly on the face, |
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ears, nose, fingers, and toes. These lesions begin as rashes and can progress to |
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become wounds (ulcers) and dead tissue (necrosis). The skin problems, which |
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worsen in cold weather, can lead to complications such as scarred ears, a hole |
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in the tissue that separates the two nostrils (nasal septum perforation), or |
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fingers or toes that require amputation. Individuals with SAVI also have a |
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purplish skin discoloration (livedo reticularis) caused by abnormalities in the |
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tiny blood vessels of the skin. Affected individuals may also experience |
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episodes of Raynaud phenomenon, in which the fingers and toes turn white or blue |
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in response to cold temperature or other stresses. This effect occurs because |
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of problems with the small vessels that carry blood to the extremities. |
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html:p |
In addition to problems affecting the skin, people with SAVI have recurrent |
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low-grade fevers and swollen lymph nodes. They may also develop widespread lung |
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damage (interstitial lung disease) that can lead to the formation of scar tissue |
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in the lungs (pulmonary fibrosis) and difficulty breathing; these respiratory |
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complications can become life-threatening. Rarely, muscle inflammation |
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(myositis) and joint stiffness also occur. |
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related-gene-list |
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Stormorken syndrome |
https://ghr.nlm.nih.gov/condition/stormorken-syndrome |
Stormorken syndrome is a rare disorder. Approximately a dozen cases have |
html:p |
Stormorken syndrome is a rare condition that affects many body systems. Affected |
ad |
autosomal dominant |
STIM1 |
https://ghr.nlm.nih.gov/gene/STIM1 |
Stormorken-Sjaastad-Langslet syndrome |
db |
key |
2014-08 |
2017-12-29 |
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STORMORKEN综合征 |
been reported in the medical literature. |
individuals usually have thrombocytopenia, in which there are abnormally low |
thrombocytopathy, asplenia, and miosis |
GTR |
C1861451 |
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numbers of blood cell fragments called platelets. Platelets are involved in |
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key |
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normal blood clotting; a shortage of platelets typically results in easy |
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MeSH |
D000015 |
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bruising and abnormal bleeding. In addition, affected individuals often have a |
db |
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muscle disorder, called tubular aggregate myopathy, that leads to muscle |
MeSH |
D013921 |
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weakness. Another feature of Stormorken syndrome is permanent constriction of |
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the pupils of the eyes (miosis), which may be caused by abnormalities in the |
OMIM |
185070 |
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muscles that control the size of the pupils. Other features include lack of a |
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functioning spleen (asplenia), scaly skin (ichthyosis), headaches, and |
|
Orphanet |
3204 |
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difficulty with reading and spelling (dyslexia). |
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related-gene-list |
|
SNOMED CT |
711407000 |
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Sturge-Weber syndrome |
https://ghr.nlm.nih.gov/condition/sturge-weber-syndrome |
Sturge-Weber syndrome is estimated to affect 1 in 20,000 to 50,000 |
html:p |
Sturge-Weber syndrome is a condition that affects the development of certain |
n |
not inherited |
GNAQ |
https://ghr.nlm.nih.gov/gene/GNAQ |
angiomatosis aculoorbital-thalamic syndrome |
db |
key |
2017-02 |
2017-12-29 |
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史德格-韋伯症候群 |
individuals. |
blood vessels, causing abnormalities in the brain, skin, and eyes. Sturge-Weber |
encephalofacial hemangiomatosis |
GTR |
C0038505 |
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syndrome has three major features: a red or pink birthmark called a port-wine |
encephalofacial hemangiomatosis syndrome |
db |
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birthmark, a brain abnormality called a leptomeningeal angioma, and increased |
meningo-oculo-facial angiomatosis |
ICD-10-CM |
Q85.8 |
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pressure in the eye (glaucoma). Not all individuals with Sturge-Weber syndrome |
meningofacial angiomatosis-cerebral calcification syndrome |
db |
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have all three features. |
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neuroretinoangiomatosis |
MeSH |
D013341 |
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html:p |
Most people with Sturge-Weber syndrome are born with a port-wine birthmark. This |
phakomatosis, Sturge-Weber |
db |
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type of birthmark is caused by enlargement (dilatation) of small blood vessels |
Sturge-Weber-Dimitri syndrome |
OMIM |
185300 |
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(capillaries) near the surface of the skin. Port-wine birthmarks are typically |
Sturge-Weber-Krabbe syndrome |
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initially flat and can vary in color from pale pink to deep purple. In people |
SWS |
Orphanet |
3205 |
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with Sturge-Weber syndrome, the port-wine birthmark is on the face, typically on |
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the forehead, temple, or eyelid. The port-wine birthmark is usually only on one |
SNOMED CT |
19886006 |
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side of the face but can be on both sides. |
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html:p |
In Sturge-Weber syndrome, there is usually abnormal formation and growth of |
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blood vessels within the two thin layers of tissue that cover the brain and |
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spinal cord. This abnormality, which is called leptomeningeal angioma, can |
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impair blood flow in the brain and lead to loss of brain tissue (atrophy) and |
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deposits of calcium (calcification) in the brain below the angioma. The decrease |
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in blood flow caused by leptomeningeal angiomas can cause stroke-like episodes |
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in people with Sturge-Weber syndrome. These episodes often involve temporary |
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muscle weakness on one side of the body (hemiparesis), vision abnormalities, |
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seizures, and migraine headaches. In affected individuals, these episodes |
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usually begin by age 2. The seizures usually involve only one side of the brain |
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(focal seizures), during which the port-wine birthmark may darken and |
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individuals may lose consciousness. People with Sturge-Weber syndrome have |
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varying levels of cognitive function, from normal intelligence to intellectual |
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disability. |
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html:p |
In individuals with Sturge-Weber syndrome, glaucoma typically develops either in |
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infancy or early adulthood and can cause vision impairment. In some affected |
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infants, the pressure can become so great that the eyeballs appear enlarged and |
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bulging (buphthalmos). Individuals with Sturge-Weber syndrome can have tangles |
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of abnormal blood vessels (hemangiomas) in various parts of the eye. When these |
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abnormal blood vessels develop in the network of blood vessels at the back of |
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the eye (choroid), it is called a diffuse choroidal hemangioma and occurs in |
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about one-third of individuals with Sturge-Weber syndrome. A diffuse choroidal |
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hemangioma can cause vision loss. When present, the eye abnormalities typically |
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occur on the same side of the head as the port-wine birthmark. |
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related-gene-list |
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Stüve-Wiedemann syndrome |
https://ghr.nlm.nih.gov/condition/stuve-wiedemann-syndrome |
Stüve-Wiedemann syndrome is a rare condition that has been found worldwide. |
html:p |
Stüve-Wiedemann syndrome is a severe condition characterized by bone |
ar |
autosomal recessive |
LIFR |
https://ghr.nlm.nih.gov/gene/LIFR |
neonatal Schwartz-Jampel syndrome |
db |
key |
2016-04 |
2017-12-29 |
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Stüve-Wiedemann綜合症 |
Its prevalence is unknown. |
abnormalities and dysfunction of the autonomic nervous system, which controls |
Schwartz-Jampel type 2 syndrome |
GTR |
C0796176 |
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involuntary body processes such as the regulation of breathing rate and body |
SJS2 |
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key |
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temperature. The condition is apparent from birth, and its key features include |
Stuve-Wiedemann dysplasia |
MeSH |
D010009 |
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abnormal curvature (bowing) of the long bones in the legs, difficulty feeding |
Stuve-Wiedemann syndrome |
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and swallowing, and episodes of dangerously high body temperature |
Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome |
OMIM |
601559 |
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(hyperthermia). |
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STWS |
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html:p |
In addition to bowed legs, affected infants can have bowed arms, permanently |
SWS |
Orphanet |
3206 |
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bent fingers and toes (camptodactyly), and joint deformities (contractures) in |
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the elbows and knees that restrict their movement. Other features include |
SNOMED CT |
254097005 |
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abnormalities of the pelvic bones (the ilia) and reduced bone mineral density |
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(osteopenia). |
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html:p |
In infants with Stüve-Wiedemann syndrome, dysfunction of the autonomic nervous |
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system typically leads to difficulty feeding and swallowing, breathing problems, |
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and episodes of hyperthermia. Affected infants may also sweat excessively, even |
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when the body temperature is not elevated, or have a reduced ability to feel |
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pain. Many babies with this condition do not survive past infancy because of the |
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problems regulating breathing and body temperature; however, some people with |
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Stüve-Wiedemann syndrome live into adolescence or later. |
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html:p |
Problems with breathing and swallowing usually improve in affected children who |
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survive infancy; however, they still have difficulty regulating body |
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temperature. In addition, the leg bowing worsens, and children with |
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Stüve-Wiedemann syndrome may develop prominent joints, an abnormal curvature of |
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the spine (scoliosis), and spontaneous bone fractures. Some affected individuals |
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have a smooth tongue that lacks the bumps that house taste buds (fungiform |
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papillae). Affected children may also lose certain reflexes, particularly the |
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reflex to blink when something touches the eye (corneal reflex) and the |
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knee-jerk reflex (patellar reflex). |
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html:p |
Another condition once known as Schwartz-Jampel syndrome type 2 is now |
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considered to be part of Stüve-Wiedemann syndrome. Researchers have recommended |
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that the designation Schwartz-Jampel syndrome type 2 no longer be used. |
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inheritance-pattern-list |
related-gene-list |
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STXBP1 encephalopathy with epilepsy |
https://ghr.nlm.nih.gov/condition/stxbp1-encephalopathy-with-epilepsy |
The prevalence of STXBP1 encephalopathy with epilepsy is unknown. At least |
html:p |
html:i |
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autosomal dominant |
ghr-page |
early-infantile epileptic encephalopathy 4 |
db-key |
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2017-08 |
2017-12-29 |
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200 individuals with this condition have been described in the medical |
The signs and symptoms of this condition typically begin in infancy but can |
https://ghr.nlm.nih.gov/gene/STXBP1 |
EIEE4 |
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GTR |
C2677326 |
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literature. |
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first appear later in childhood or early adulthood. |
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STXBP1 epileptic encephalopathy |
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STXBP1-related early-onset encephalopathy |
GeneReviews |
stxbp1-ee |
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The most common seizures in STXBP1 encephalopathy with epilepsy are |
STXBP1-related epileptic encephalopathy |
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html:p |
infantile spasms, which occur before age 1 and consist of involuntary muscle contractions. |
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MeSH |
D001925 |
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STXBP1 |
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db-key |
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MeSH |
D004831 |
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db-key |
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OMIM |
612164 |
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encephalopathy with epilepsy have more than one type of seizure. In about |
db-key |
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one-quarter of individuals, the seizures are described as refractory because |
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Orphanet |
1934 |
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they do not respond to therapy with anti-epileptic medications. |
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html:p |
html:i |
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SNOMED CT |
230429005 |
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STXBP1 |
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related-gene-list |
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Succinate-CoA ligase deficiency |
https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency |
Although the exact prevalence of succinate-CoA ligase deficiency is |
html:p |
Succinate-CoA ligase deficiency is an inherited disorder that affects the early |
ar |
autosomal recessive |
SUCLA2 |
https://ghr.nlm.nih.gov/gene/SUCLA2 |
mitochondrial DNA depletion syndrome, encephalomyopathic form, with mild |
db |
key |
2009-08 |
2017-12-29 |
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琥珀酸-CoA連接酶缺乏症 |
unknown, it appears to be very rare. This condition occurs more frequently among |
development of the brain and other body systems. One of the earliest signs of |
related-gene |
gene-symbol |
ghr-page |
methylmalonic aciduria |
GTR |
C2749864 |
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people from the Faroe Islands in the North Atlantic Ocean. |
the disorder is very weak muscle tone (severe hypotonia), which appears in the |
SUCLG1 |
https://ghr.nlm.nih.gov/gene/SUCLG1 |
mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic |
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first few months of life. Severe hypotonia delays the development of motor |
aciduria |
GTR |
C3151476 |
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skills such as holding up the head and rolling over. Many affected children also |
succinate-coenzyme A ligase deficiency |
db |
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have muscle weakness and reduced muscle mass, which prevents them from standing |
GeneReviews |
sucla2-def |
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and walking independently. |
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html:p |
Additional features of succinate-CoA ligase deficiency can include progressive |
GeneReviews |
suclg1-mtddepl |
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abnormal curvature of the spine (scoliosis or kyphosis), uncontrolled movements |
db |
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(dystonia), severe hearing loss, and seizures beginning in childhood. In most |
MeSH |
D028361 |
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affected children, a substance called methylmalonic acid builds up abnormally in |
db |
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the body and is excreted in urine (methylmalonic aciduria). Most children with |
OMIM |
245400 |
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succinate-CoA ligase deficiency also experience a failure to thrive, which |
db |
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means that they gain weight and grow more slowly than expected. |
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OMIM |
612073 |
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html:p |
Succinate-CoA ligase deficiency causes breathing difficulties that often lead to |
db |
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recurrent infections of the respiratory tract. These infections can be |
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Orphanet |
35698 |
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life-threatening, and most people with succinate-CoA ligase deficiency live only |
db |
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into childhood or adolescence. |
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SNOMED CT |
445275003 |
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html:p |
A few individuals with succinate-CoA ligase deficiency have had an even more |
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severe form of the disorder known as fatal infantile lactic acidosis. Affected |
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infants develop a toxic buildup of lactic acid in the body (lactic acidosis) in |
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the first day of life, which leads to muscle weakness and breathing |
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difficulties. Children with fatal infantile lactic acidosis usually live only a |
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few days after birth. |
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related-gene-list |
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Succinic semialdehyde dehydrogenase deficiency |
https://ghr.nlm.nih.gov/condition/succinic-semialdehyde-dehydrogenase-deficiency |
Approximately 350 people with succinic semialdehyde dehydrogenase |
html:p |
Succinic semialdehyde dehydrogenase deficiency is a disorder that can cause a |
ar |
autosomal recessive |
ALDH5A1 |
https://ghr.nlm.nih.gov/gene/ALDH5A1 |
4-hydroxybutyric aciduria |
db |
key |
2008-06 |
2017-12-29 |
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琥珀酸半醛脫氫酶缺乏症 |
deficiency have been reported worldwide. |
variety of neurological problems. People with this condition typically have |
4-hydroxybutyricaciduria |
GTR |
C0268631 |
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developmental delay, especially involving speech development; intellectual |
Gamma-hydroxybutyric acidemia |
db |
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disability; and decreased muscle tone (hypotonia) soon after birth. About half |
gamma-hydroxybutyric aciduria |
GeneReviews |
ssadh |
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of those affected experience seizures, difficulty coordinating movements |
SSADH deficiency |
db |
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(ataxia), decreased reflexes (hyporeflexia), and behavioral problems. The most |
MeSH |
D020739 |
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common behavioral problems associated with this condition are sleep |
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db |
key |
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disturbances, hyperactivity, difficulty maintaining attention, and anxiety. |
|
OMIM |
271980 |
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Less frequently, affected individuals may have increased aggression, |
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db |
key |
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hallucinations, obsessive-compulsive disorder (OCD), and self-injurious |
|
Orphanet |
22 |
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behavior, including biting and head banging. People with this condition can |
db |
key |
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also have problems controlling eye movements. Less common features of succinic |
SNOMED CT |
49748000 |
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semialdehyde dehydrogenase deficiency include uncontrollable movements of the |
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limbs (choreoathetosis), involuntary tensing of the muscles (dystonia), muscle |
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twitches (myoclonus), and a progressive worsening of ataxia. |
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related-gene-list |
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Succinyl-CoA:3-ketoacid CoA transferase deficiency |
https://ghr.nlm.nih.gov/condition/succinyl-coa3-ketoacid-coa-transferase-deficie |
The prevalence of SCOT deficiency is unknown. More than 20 cases of this |
html:p |
Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is an inherited |
ar |
autosomal recessive |
OXCT1 |
https://ghr.nlm.nih.gov/gene/OXCT1 |
3-oxoacid CoA transferase deficiency |
db |
key |
2011-12 |
2017-12-29 |
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琥珀酰-CoA:3-酮酸CoA轉移酶缺乏 |
ncy |
condition have been reported in the scientific literature. |
disorder that impairs the body's ability to break down ketones, which are |
ketoacidosis due to SCOT deficiency |
GTR |
C0342792 |
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molecules produced in the liver during the breakdown of fats. |
SCOT deficiency |
db |
key |
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html:p |
The signs and symptoms of SCOT deficiency typically appear within the first few |
succinyl-CoA 3-oxoacid transferase deficiency |
MeSH |
D007662 |
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years of life. Affected individuals experience episodes of extreme tiredness |
succinyl-CoA:3-oxoacid CoA transferase deficiency |
db |
key |
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(lethargy), appetite loss, vomiting, rapid breathing, and, occasionally, |
succinyl-CoA:acetoacetate transferase deficiency |
OMIM |
245050 |
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seizures. These episodes, which are called ketoacidotic attacks, sometimes lead |
db |
key |
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to coma. About half of affected individuals have a ketoacidotic attack within |
Orphanet |
832 |
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the first 4 days of life. Affected individuals have no symptoms of the disorder |
db |
key |
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between ketoacidotic attacks. |
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SNOMED CT |
124366000 |
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html:p |
People with SCOT deficiency usually have a permanently elevated level of ketones |
db |
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in their blood (persistent ketosis). If the level of ketones gets too high, |
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SNOMED CT |
238004006 |
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which can be brought on by infections, fevers, or periods without food |
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(fasting), a ketoacidotic attack can occur. The frequency of ketoacidotic |
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attacks varies among affected individuals. |
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related-gene-list |
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Sudden infant death with dysgenesis of the testes syndrome |
https://ghr.nlm.nih.gov/condition/sudden-infant-death-with-dysgenesis-of-the-tes |
SIDDT has been diagnosed in more than 20 infants from a single Old Order |
html:p |
Sudden infant death with dysgenesis of the testes syndrome (SIDDT) is a rare |
ar |
autosomal recessive |
TSPYL1 |
https://ghr.nlm.nih.gov/gene/TSPYL1 |
SIDDT |
db |
key |
2014-12 |
2017-12-29 |
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tes-syndrome |
Amish community in Pennsylvania. The condition has not been reported outside |
condition that is fatal in the first year of life; its major features include |
GTR |
C1837371 |
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this community. |
abnormalities of the reproductive system in males, feeding difficulties, and |
db |
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breathing problems. |
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MeSH |
D006061 |
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html:p |
Infants with SIDDT who are genetically male, with one X chromosome and one Y |
db |
key |
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chromosome in each cell, have underdeveloped or abnormal testes. They may also |
MeSH |
D013398 |
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have external genitalia that appear female or that do not look clearly male or |
db |
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clearly female (ambiguous genitalia). In affected infants who are genetically |
OMIM |
608800 |
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female, with two X chromosomes in each cell, development of the internal and |
db |
key |
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external reproductive organs is normal. |
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Orphanet |
168593 |
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html:p |
SIDDT is associated with abnormal development of the brain, particularly the |
db |
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brainstem, which is the part of the brain that is connected to the spinal cord. |
SNOMED CT |
711157000 |
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The brainstem regulates many basic body functions, including heart rate, |
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breathing, eating, and sleeping. It also relays information about movement and |
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the senses between the brain and the rest of the body. Many features of SIDDT |
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appear to be related to brainstem malfunction, including a slow or uneven heart |
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rate, abnormal breathing patterns, difficulty controlling body temperature, |
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unusual tongue and eye movements, abnormal reflexes, seizures, and feeding |
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difficulties. Affected infants also have an unusual cry that has been described |
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as similar to the bleating of a goat, which is probably a result of abnormal |
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nerve connections between the brain and the voicebox (larynx). |
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html:p |
The brainstem abnormalities lead to death in the first year of life, when |
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affected infants suddenly stop breathing or their heart stops beating |
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(cardiorespiratory arrest). |
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Sulfite oxidase deficiency |
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亞硫酸鹽氧化酶缺乏 |
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related-gene-list |
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Supravalvular aortic stenosis |
https://ghr.nlm.nih.gov/condition/supravalvular-aortic-stenosis |
SVAS occurs in 1 in 20,000 newborns worldwide. |
html:p |
Supravalvular aortic stenosis (SVAS) is a heart defect that develops before |
ad |
autosomal dominant |
ELN |
https://ghr.nlm.nih.gov/gene/ELN |
aortic stenosis, supravalvular |
db |
key |
2012-05 |
2017-12-29 |
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瓣膜上主動脈瓣狹窄 |
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birth. This defect is a narrowing (stenosis) of the large blood vessel that |
stenosis, aortic supravalvular |
GTR |
C0003499 |
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carries blood from the heart to the rest of the body (the aorta). The condition |
stenosis, supravalvular aortic |
db |
key |
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is described as supravalvular because the section of the aorta that is narrowed |
supravalvular stenosis, aortic |
ICD-10-CM |
Q25.3 |
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is located just above the valve that connects the aorta with the heart (the |
SVAS |
db |
key |
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aortic valve). Some people with SVAS also have defects in other blood vessels, |
MeSH |
D021921 |
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most commonly stenosis of the artery from the heart to the lungs (the pulmonary |
db |
key |
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artery). An abnormal heart sound during a heartbeat (heart murmur) can often be |
OMIM |
185500 |
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heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead |
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to shortness of breath, chest pain, and ultimately heart failure. |
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Orphanet |
3193 |
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html:p |
The severity of SVAS varies considerably, even among family members. Some |
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affected individuals die in infancy, while others never experience symptoms of |
SNOMED CT |
268185002 |
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the disorder. |
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related-gene-list |
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Surfactant dysfunction |
https://ghr.nlm.nih.gov/condition/surfactant-dysfunction |
One type of surfactant dysfunction, SP-B deficiency, is estimated to occur |
html:p |
Surfactant dysfunction is a lung disorder that causes breathing problems. This |
ad |
autosomal dominant |
ABCA3 |
https://ghr.nlm.nih.gov/gene/ABCA3 |
interstitial lung disease due to surfactant deficiency |
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2017-07 |
2017-12-29 |
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表面活性劑功能障礙 |
in 1 in 1 million newborns worldwide. The prevalence of surfactant dysfunction |
condition results from abnormalities in the composition or function of |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
pulmonary surfactant metabolism dysfunction |
GTR |
C1968602 |
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due to other causes is unknown. |
surfactant, a mixture of certain fats (called phospholipids) and proteins that |
ar |
autosomal recessive |
CSF2RA |
https://ghr.nlm.nih.gov/gene/CSF2RA |
surfactant metabolism deficiency |
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lines the lung tissue and makes breathing easy. Without normal surfactant, the |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1970470 |
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tissue surrounding the air sacs in the lungs (the alveoli) sticks together |
CSF2RB |
https://ghr.nlm.nih.gov/gene/CSF2RB |
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(because of a force called surface tension) after exhalation, causing the |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2677877 |
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alveoli to collapse. As a result, filling the lungs with air on each breath |
SFTPB |
https://ghr.nlm.nih.gov/gene/SFTPB |
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becomes very difficult, and the delivery of oxygen to the body is impaired. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3280574 |
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html:p |
The signs and symptoms of surfactant dysfunction can vary in severity. The most |
SFTPC |
https://ghr.nlm.nih.gov/gene/SFTPC |
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severe form of this condition causes respiratory distress syndrome in newborns. |
ICD-10-CM |
J84.83 |
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Affected babies have extreme difficulty breathing and are unable to get enough |
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oxygen. The lack of oxygen can damage the baby's brain and other organs. This |
MeSH |
D017563 |
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syndrome leads to respiratory failure, and most babies with this form of the |
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condition do not survive more than a few months. |
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OMIM |
265120 |
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html:p |
Less severe forms of surfactant dysfunction cause gradual onset of breathing |
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problems in children or adults. Signs and symptoms of these milder forms are |
OMIM |
300770 |
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abnormally rapid breathing (tachypnea); low concentrations of oxygen in the |
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blood (hypoxemia); and an inability to grow or gain weight at the expected rate |
OMIM |
610913 |
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(failure to thrive). |
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html:p |
There are several types of surfactant dysfunction, which are identified by the |
OMIM |
614370 |
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genetic cause of the condition. One type, called SP-B deficiency, causes |
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respiratory distress syndrome in newborns. Other types, known as SP-C |
Orphanet |
100049 |
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dysfunction and ABCA3 deficiency, have signs and symptoms that range from mild |
db |
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to severe. |
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Orphanet |
217563 |
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related-gene-list |
|
SNOMED CT |
3.3E+14 |
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Swyer syndrome |
https://ghr.nlm.nih.gov/condition/swyer-syndrome |
Swyer syndrome occurs in approximately 1 in 80,000 people. |
html:p |
Swyer syndrome is a condition that affects sexual development. Sexual |
ad |
autosomal dominant |
CBX2 |
https://ghr.nlm.nih.gov/gene/CBX2 |
46,XY CGD |
db |
key |
2015-03 |
2017-12-29 |
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Swyer綜合症 |
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development is usually determined by an individual's chromosomes; however, in |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
46,XY complete gonadal dysgenesis |
GTR |
C1848296 |
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Swyer syndrome, sexual development does not match the affected individual's |
ar |
autosomal recessive |
DHH |
https://ghr.nlm.nih.gov/gene/DHH |
46,XY sex reversal |
db |
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chromosomal makeup. |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
gonadal dysgenesis, 46,XY |
GTR |
C1856273 |
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html:p |
People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, |
n |
not inherited |
DMRT1 |
https://ghr.nlm.nih.gov/gene/DMRT1 |
gonadal dysgenesis, XY female type |
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known as X and Y, are called sex chromosomes because they help determine whether |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
pure gonadal dysgenesis 46,XY |
GTR |
C2748896 |
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a person will develop male or female sex characteristics. Girls and women |
y |
Y-linked |
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MAP3K1 |
https://ghr.nlm.nih.gov/gene/MAP3K1 |
XY pure gonadal dysgenesis |
db |
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typically have two X chromosomes (46,XX karyotype), while boys and men usually |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2751317 |
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have one X chromosome and one Y chromosome (46,XY karyotype). In Swyer syndrome, |
NR0B1 |
https://ghr.nlm.nih.gov/gene/NR0B1 |
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individuals with one X chromosome and one Y chromosome in each cell, the |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2751824 |
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pattern typically found in boys and men, have female reproductive structures. |
NR5A1 |
https://ghr.nlm.nih.gov/gene/NR5A1 |
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html:p |
People with Swyer syndrome have typical female external genitalia. The uterus |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2752149 |
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and fallopian tubes are normally-formed, but the gonads (ovaries or testes) are |
SOX9 |
https://ghr.nlm.nih.gov/gene/SOX9 |
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not functional; affected individuals have undeveloped clumps of tissue called |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C2936694 |
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streak gonads. Because of the lack of development of the gonads, Swyer syndrome |
SRY |
https://ghr.nlm.nih.gov/gene/SRY |
db |
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is also called 46,XY complete gonadal dysgenesis. The residual gonadal tissue |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3151064 |
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often becomes cancerous, so it is usually removed surgically early in life. |
ZFPM2 |
https://ghr.nlm.nih.gov/gene/ZFPM2 |
db |
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html:p |
People with Swyer syndrome are typically raised as girls and have a female |
GTR |
C4015129 |
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gender identity. Because they do not have functional ovaries, affected |
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individuals usually begin hormone replacement therapy during adolescence to |
GTR |
CN043561 |
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induce menstruation and development of female secondary sex characteristics such |
db |
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as breast enlargement and uterine growth. Hormone replacement therapy also |
GeneReviews |
gonad-dys-46xy |
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helps reduce the risk of reduced bone density (osteopenia and osteoporosis). |
db |
key |
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Women with this disorder do not produce eggs (ova), but they may be able to |
ICD-10-CM |
Q97.3 |
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become pregnant with a donated egg or embryo. |
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db |
key |
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html:p |
Swyer syndrome usually affects only sexual development; such cases are called |
MeSH |
D006061 |
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isolated Swyer syndrome. However, depending on the genetic cause, Swyer syndrome |
db |
key |
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may also occur along with health conditions such as nerve problems (neuropathy) |
OMIM |
154230 |
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or as part of a syndrome such as campomelic dysplasia, which causes severe |
db |
key |
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skeletal abnormalities. |
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OMIM |
233420 |
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db |
key |
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|
OMIM |
300018 |
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db |
key |
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OMIM |
400044 |
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db |
key |
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OMIM |
612965 |
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db |
key |
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OMIM |
613080 |
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db |
key |
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OMIM |
613762 |
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db |
key |
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OMIM |
616067 |
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db |
key |
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Orphanet |
242 |
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db |
key |
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inheritance-pattern-list |
|
SNOMED CT |
95218005 |
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SYNGAP1-related intellectual disability |
https://ghr.nlm.nih.gov/condition/syngap1-related-intellectual-disability |
SYNGAP1-related intellectual disability is a relatively common form of |
html:p |
html:i |
|
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|
ad |
autosomal dominant |
gene-symbol |
synonym |
mental retardation, autosomal dominant 5 |
db-key |
db |
key |
2016-05 |
2017-12-29 |
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cognitive impairment. It is estimated to account for 1 to 2 percent of |
SYNGAP1 |
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SYNGAP1 |
synonym |
MRD5 |
|
GTR |
C2675473 |
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intellectual disability cases. |
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db-key |
db |
key |
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MeSH |
D008607 |
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db-key |
db |
key |
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OMIM |
612621 |
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-related intellectual disability include recurrent seizures (epilepsy), |
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hyperactivity, and autism spectrum disorder, which is characterized by impaired |
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html:i |
-related intellectual disability develops epilepsy, and about half have autism |
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SYNGAP1 |
spectrum disorder. |
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Synpolydactyly(SPD) |
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多指症 |
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related-gene-list |
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Systemic lupus erythematosus |
https://ghr.nlm.nih.gov/condition/systemic-lupus-erythematosus |
SLE has been estimated to affect between 322,000 and 1.5 million people in |
html:p |
Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation |
ar |
autosomal recessive |
BANK1 |
https://ghr.nlm.nih.gov/gene/BANK1 |
disseminated lupus erythematosus |
db |
key |
2016-06 |
2017-12-29 |
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系统性红斑狼疮 |
the United States. The exact prevalence is difficult to determine because many |
in connective tissues, such as cartilage and the lining of blood vessels, which |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
LE syndrome |
GTR |
C1835919 |
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of the signs and symptoms of SLE resemble those of other disorders. Diagnosis |
provide strength and flexibility to structures throughout the body. The signs |
n |
not inherited |
C4A |
https://ghr.nlm.nih.gov/gene/C4A |
Libman-Sacks disease |
db |
key |
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may be delayed for years, and the condition may never be diagnosed in some |
and symptoms of SLE vary among affected individuals, and can involve many organs |
related-gene |
gene-symbol |
ghr-page |
lupus |
GTR |
C1835929 |
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affected individuals. Females develop SLE about nine times more often than |
and systems, including the skin, joints, kidneys, lungs, central nervous |
C4B |
https://ghr.nlm.nih.gov/gene/C4B |
SLE |
db |
key |
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males. It is most common in younger women, peaking during the childbearing |
system, and blood-forming (hematopoietic) system. SLE is one of a large group of |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1842057 |
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years; however, 20 percent of SLE cases occur in people over age 50.For unknown |
conditions called autoimmune disorders that occur when the immune system |
C4B_2 |
https://ghr.nlm.nih.gov/gene/C4B_2 |
db |
key |
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reasons, in industrialized Western countries SLE has become 10 times more common |
attacks the body's own tissues and organs. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1842755 |
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over the past 50 years. The prevalence of SLE in Africa and Asia is believed to |
html:p |
SLE may first appear as extreme tiredness (fatigue), a vague feeling of |
CR2 |
https://ghr.nlm.nih.gov/gene/CR2 |
db |
key |
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be much lower than in Western nations; however, in industrialized Western |
discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1842756 |
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countries, people of African and Asian descent are two to four times more likely |
affected individuals also have joint pain, typically affecting the same joints |
CRP |
https://ghr.nlm.nih.gov/gene/CRP |
db |
key |
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to develop SLE than are people of European descent. Researchers suggest that |
on both sides of the body, and muscle pain and weakness. Skin problems are |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1842757 |
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factors such as ethnic mixing, tobacco use in industrialized countries, and the |
common in SLE. A characteristic feature is a flat red rash across the cheeks and |
CTLA4 |
https://ghr.nlm.nih.gov/gene/CTLA4 |
db |
key |
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different types of infections people acquire in different regions may contribute |
bridge of the nose, called a "butterfly rash" because of its shape. The rash, |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1846533 |
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to these differences. For example malaria, which occurs often in tropical |
which generally does not hurt or itch, often appears or becomes more pronounced |
DNASE1 |
https://ghr.nlm.nih.gov/gene/DNASE1 |
db |
key |
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regions, is thought to be protective against SLE, while the Epstein-Barr virus, |
when exposed to sunlight. Other skin problems that may occur in SLE include |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1854235 |
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more common in the West, increases SLE risk. |
calcium deposits under the skin (calcinosis), damaged blood vessels (vasculitis) |
DNASE1L3 |
https://ghr.nlm.nih.gov/gene/DNASE1L3 |
db |
key |
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in the skin, and tiny red spots called petechiae. Petechiae are caused by a |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1854577 |
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shortage of cell fragments involved in clotting (platelets), which leads to |
FCGR2B |
https://ghr.nlm.nih.gov/gene/FCGR2B |
db |
key |
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bleeding under the skin. Affected individuals may also have hair loss (alopecia) |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1864265 |
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and open sores (ulcerations) in the moist lining (mucosae) of the mouth, nose, |
IRF5 |
https://ghr.nlm.nih.gov/gene/IRF5 |
db |
key |
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or, less commonly, the genitals. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1864731 |
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html:p |
About a third of people with SLE develop kidney disease (nephritis). Heart |
ITGAM |
https://ghr.nlm.nih.gov/gene/ITGAM |
db |
key |
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problems may also occur in SLE, including inflammation of the sac-like membrane |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1864732 |
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around the heart (pericarditis) and abnormalities of the heart valves, which |
LTK |
https://ghr.nlm.nih.gov/gene/LTK |
db |
key |
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control blood flow in the heart. Heart disease caused by fatty buildup in the |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1866373 |
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blood vessels (atherosclerosis), which is very common in the general population, |
NCF2 |
https://ghr.nlm.nih.gov/gene/NCF2 |
db |
key |
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is even more common in people with SLE. The inflammation characteristic of SLE |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1970455 |
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can also damage the nervous system, and may result in abnormal sensation and |
PDCD1 |
https://ghr.nlm.nih.gov/gene/PDCD1 |
db |
key |
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weakness in the limbs (peripheral neuropathy); seizures; stroke; and difficulty |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2676487 |
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processing, learning, and remembering information (cognitive impairment). |
PTPN22 |
https://ghr.nlm.nih.gov/gene/PTPN22 |
db |
key |
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Anxiety and depression are also common in SLE. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2677095 |
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html:p |
People with SLE have episodes in which the condition gets worse (exacerbations) |
RASGRP1 |
https://ghr.nlm.nih.gov/gene/RASGRP1 |
db |
key |
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and other times when it gets better (remissions). Overall, SLE gradually gets |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2677096 |
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worse over time, and damage to the major organs of the body can be |
RIPK1 |
https://ghr.nlm.nih.gov/gene/RIPK1 |
db |
key |
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life-threatening. |
|
|
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2677097 |
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STAT4 |
https://ghr.nlm.nih.gov/gene/STAT4 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2749008 |
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TLR5 |
https://ghr.nlm.nih.gov/gene/TLR5 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C2751054 |
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TNFAIP3 |
https://ghr.nlm.nih.gov/gene/TNFAIP3 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C3280742 |
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TNFSF4 |
https://ghr.nlm.nih.gov/gene/TNFSF4 |
db |
key |
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related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M32 |
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TREX1 |
https://ghr.nlm.nih.gov/gene/TREX1 |
db |
key |
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MeSH |
D008180 |
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db |
key |
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OMIM |
152700 |
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db |
key |
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|
OMIM |
300809 |
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db |
key |
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OMIM |
601744 |
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db |
key |
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OMIM |
605218 |
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db |
key |
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OMIM |
605480 |
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db |
key |
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OMIM |
607279 |
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db |
key |
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OMIM |
607965 |
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db |
key |
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OMIM |
607966 |
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db |
key |
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OMIM |
607967 |
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db |
key |
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OMIM |
608437 |
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db |
key |
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OMIM |
609903 |
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db |
key |
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OMIM |
609939 |
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db |
key |
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OMIM |
610065 |
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db |
key |
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OMIM |
610066 |
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db |
key |
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OMIM |
610927 |
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db |
key |
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OMIM |
612251 |
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db |
key |
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OMIM |
612253 |
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db |
key |
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OMIM |
612254 |
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db |
key |
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OMIM |
612378 |
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db |
key |
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OMIM |
613145 |
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db |
key |
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OMIM |
614420 |
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db |
key |
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Orphanet |
536 |
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db |
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related-gene-list |
|
SNOMED CT |
55464009 |
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Systemic scleroderma |
https://ghr.nlm.nih.gov/condition/systemic-scleroderma |
The prevalence of systemic scleroderma is estimated to range from 50 to 300 |
html:p |
Systemic scleroderma is an autoimmune disorder that affects the skin and |
n |
not inherited |
BANK1 |
https://ghr.nlm.nih.gov/gene/BANK1 |
familial progressive scleroderma |
db |
key |
2015-04 |
2017-12-29 |
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系統性硬皮症 |
cases per 1 million people. For reasons that are unknown, women are four times |
internal organs. Autoimmune disorders occur when the immune system malfunctions |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
progressive scleroderma |
GTR |
C1866983 |
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more likely to develop the condition than men. |
and attacks the body's own tissues and organs. The word "scleroderma" means hard |
u |
pattern unknown |
BLK |
https://ghr.nlm.nih.gov/gene/BLK |
systemic sclerosis |
db |
key |
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skin in Greek, and the condition is characterized by the buildup of scar tissue |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M34 |
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(fibrosis) in the skin and other organs. The condition is also called systemic |
IRF5 |
https://ghr.nlm.nih.gov/gene/IRF5 |
db |
key |
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sclerosis because the fibrosis can affect organs other than the skin. Fibrosis |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M34.0 |
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is due to the excess production of a tough protein called collagen, which |
PTPN22 |
https://ghr.nlm.nih.gov/gene/PTPN22 |
db |
key |
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normally strengthens and supports connective tissues throughout the body. |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M34.1 |
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html:p |
The signs and symptoms of systemic scleroderma usually begin with episodes of |
STAT4 |
https://ghr.nlm.nih.gov/gene/STAT4 |
db |
key |
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Raynaud phenomenon, which can occur weeks to years before fibrosis. In Raynaud |
related-gene |
gene-symbol |
ghr-page |
|
ICD-10-CM |
M34.8 |
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phenomenon, the fingers and toes of affected individuals turn white or blue in |
TNFSF4 |
https://ghr.nlm.nih.gov/gene/TNFSF4 |
db |
key |
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response to cold temperature or other stresses. This effect occurs because of |
ICD-10-CM |
M34.9 |
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problems with the small vessels that carry blood to the extremities. Another |
db |
key |
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early sign of systemic scleroderma is puffy or swollen hands before thickening |
ICD-10-CM |
M34.81 |
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and hardening of the skin due to fibrosis. Skin thickening usually occurs first |
db |
key |
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in the fingers (called sclerodactyly) and may also involve the hands and face. |
ICD-10-CM |
M34.82 |
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In addition, people with systemic scleroderma often have open sores (ulcers) on |
db |
key |
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their fingers, painful bumps under the skin (calcinosis), or small clusters of |
ICD-10-CM |
M34.83 |
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enlarged blood vessels just under the skin (telangiectasia). |
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db |
key |
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html:p |
Fibrosis can also affect internal organs and can lead to impairment or failure |
ICD-10-CM |
M34.89 |
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of the affected organs. The most commonly affected organs are the esophagus, |
db |
key |
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heart, lungs, and kidneys. Internal organ involvement may be signaled by |
MeSH |
D012595 |
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heartburn, difficulty swallowing (dysphagia), high blood pressure |
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db |
key |
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(hypertension), kidney problems, shortness of breath, diarrhea, or impairment of |
OMIM |
181750 |
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the muscle contractions that move food through the digestive tract (intestinal |
db |
key |
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pseudo-obstruction). |
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SNOMED CT |
89155008 |
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html:p |
There are three types of systemic scleroderma, defined by the tissues affected |
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in the disorder. In one type of systemic scleroderma, known as limited cutaneous |
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systemic scleroderma, fibrosis usually affects only the hands, arms, and face. |
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Limited cutaneous systemic scleroderma used to be known as CREST syndrome, which |
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is named for the common features of the condition: calcinosis, Raynaud |
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phenomenon, esophageal motility dysfunction, sclerodactyly, and telangiectasia. |
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In another type of systemic scleroderma, known as diffuse cutaneous systemic |
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scleroderma, the fibrosis affects large areas of skin, including the torso and |
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the upper arms and legs, and often involves internal organs. In diffuse |
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cutaneous systemic scleroderma, the condition worsens quickly and organ damage |
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occurs earlier than in other types of the condition. In the third type of |
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systemic scleroderma, called systemic sclerosis sine scleroderma ("sine" means |
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without in Latin), fibrosis affects one or more internal organs but not the |
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skin. |
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html:p |
Approximately 15 percent to 25 percent of people with features of systemic |
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scleroderma also have signs and symptoms of another condition that affects |
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connective tissue, such as polymyositis, dermatomyositis, rheumatoid arthritis, |
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Sjögren syndrome, or systemic lupus erythematosus. The combination of systemic |
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scleroderma with other connective tissue abnormalities is known as scleroderma |
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overlap syndrome. |
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related-gene-list |
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T-cell immunodeficiency, congenital alopecia, and nail dystrophy |
https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-an |
T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a rare |
html:p |
T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of |
ar |
autosomal recessive |
FOXN1 |
https://ghr.nlm.nih.gov/gene/FOXN1 |
alymphoid cystic thymic dysgenesis |
db |
key |
2014-08 |
2017-12-29 |
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T细胞免疫缺陷、先天性脱发和指甲营养不良综合征 |
d-nail-dystrophy |
disorder. It has been diagnosed in only a few individuals, almost all of whom |
severe combined immunodeficiency (SCID), which is a group of disorders |
congenital alopecia and nail dystrophy associated with severe functional T-cell |
GTR |
C1866426 |
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are members of a large extended family from a community in southern Italy. |
characterized by an almost total lack of immune protection from foreign invaders |
immunodeficiency |
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such as bacteria and viruses. People with this form of SCID are missing |
Pignata Guarino syndrome |
MeSH |
D016511 |
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functional immune cells called T cells, which normally recognize and attack |
winged helix deficiency |
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foreign invaders to prevent infection. Without functional T cells, affected |
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OMIM |
601705 |
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individuals develop repeated and persistent infections starting early in life. |
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The infections result in slow growth and can be life-threatening; without |
Orphanet |
169095 |
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effective treatment, most affected individuals live only into infancy or early |
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childhood. |
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SNOMED CT |
720345008 |
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html:p |
T-cell immunodeficiency, congenital alopecia, and nail dystrophy also affects |
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growth of the hair and nails. Congenital alopecia refers to an absence of hair |
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that is apparent from birth. Affected individuals have no scalp hair, eyebrows, |
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or eyelashes. Nail dystrophy is a general term that describes malformed |
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fingernails and toenails; in this condition, the nails are often ridged, pitted, |
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or abnormally curved. |
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html:p |
Researchers have described abnormalities of the brain and spinal cord (central |
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nervous system) in at least two cases of this condition. However, it is not yet |
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known whether central nervous system abnormalities are a common feature of |
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T-cell immunodeficiency, congenital alopecia, and nail dystrophy. |
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related-gene-list |
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Tangier disease |
https://ghr.nlm.nih.gov/condition/tangier-disease |
Tangier disease is a rare disorder with approximately 100 cases identified |
html:p |
Tangier disease is an inherited disorder characterized by significantly reduced |
ar |
autosomal recessive |
ABCA1 |
https://ghr.nlm.nih.gov/gene/ABCA1 |
A-alphalipoprotein Neuropathy |
db |
key |
2010-03 |
2017-12-29 |
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丹吉爾病 |
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worldwide. More cases are likely undiagnosed. This condition is named after an |
levels of high-density lipoprotein (HDL) in the blood. HDL transports |
alpha High Density Lipoprotein Deficiency Disease |
GTR |
C0039292 |
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island off the coast of Virginia where the first affected individuals were |
cholesterol and certain fats called phospholipids from the body's tissues to the |
Analphalipoproteinemia |
db |
key |
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identified. |
liver, where they are removed from the blood. HDL is often referred to as "good |
Cholesterol thesaurismosis |
MeSH |
D013631 |
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cholesterol" because high levels of this substance reduce the chances of |
Familial High Density Lipoprotein Deficiency Disease |
db |
key |
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developing heart and blood vessel (cardiovascular) disease. Because people with |
Familial Hypoalphalipoproteinemia |
OMIM |
205400 |
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Tangier disease have very low levels of HDL, they have a moderately increased |
HDL Lipoprotein Deficiency Disease |
db |
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risk of cardiovascular disease. |
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Lipoprotein Deficiency Disease, HDL, Familial |
Orphanet |
31150 |
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html:p |
Additional signs and symptoms of Tangier disease include a slightly elevated |
Tangier Disease Neuropathy |
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amount of fat in the blood (mild hypertriglyceridemia); disturbances in nerve |
Tangier Hereditary Neuropathy |
SNOMED CT |
15346004 |
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function (neuropathy); and enlarged, orange-colored tonsils. Affected |
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individuals often develop atherosclerosis, which is an accumulation of fatty |
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deposits and scar-like tissue in the lining of the arteries. Other features of |
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this condition may include an enlarged spleen (splenomegaly), an enlarged liver |
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(hepatomegaly), clouding of the clear covering of the eye (corneal clouding), |
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and type 2 diabetes. |
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related-gene-list |
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Tarsal-carpal coalition syndrome |
https://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome |
This condition is very rare; however, the exact prevalence is unknown. |
html:p |
Tarsal-carpal coalition syndrome is a rare, inherited bone disorder that affects |
ad |
autosomal dominant |
NOG |
https://ghr.nlm.nih.gov/gene/NOG |
NOG-related-symphalangism spectrum disorder |
db |
key |
2012-04 |
2017-12-29 |
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primarily the hands and feet. Several individual bones make up each wrist |
TCC |
GTR |
C1861305 |
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(carpal bones) and ankle (tarsal bones). In tarsal-carpal coalition syndrome, |
db |
key |
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the carpal bones fuse together, as do the tarsal bones, which causes stiffness |
MeSH |
D013580 |
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and immobility of the hands and feet. Symptoms of the condition can become |
db |
key |
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apparent in infancy, and they worsen with age. The severity of the symptoms can |
OMIM |
186570 |
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vary, even among members of the same family. |
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db |
key |
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html:p |
In this condition, fusion at the joints between the bones that make up each |
Orphanet |
1412 |
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finger and toe (symphalangism) can also occur. Consequently, the fingers and |
db |
key |
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toes become stiff and difficult to bend. Stiffness of the pinky fingers and toes |
SNOMED CT |
702312009 |
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(fifth digits) is usually noticeable first. The joints at the base of the pinky |
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fingers and toes fuse first, and slowly, the other joints along the length of |
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these digits may also be affected. Progressively, the bones in the fourth, |
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third, and second digits (the ring finger, middle finger, and forefinger, and |
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the corresponding toes) become fused. The thumb and big toe are usually not |
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involved. Affected individuals have increasing trouble forming a fist, and |
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walking often becomes painful and difficult. Occasionally, there is also fusion |
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of bones in the upper and lower arm at the elbow joint (humeroradial fusion). |
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Less common features of tarsal-carpal coalition syndrome include short stature |
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or the development of hearing loss. |
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synonym-list |
db-key-list |
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Task-specific focal dystonia |
https://ghr.nlm.nih.gov/condition/task-specific-focal-dystonia |
Task-specific focal dystonia affects an estimated 7 to 69 per million |
html:p |
Task-specific focal dystonia is a movement disorder that interferes with the |
ad |
autosomal dominant |
synonym |
focal task-specific dystonia |
key |
2017-12-29 |
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特定任務肌張力不全 |
people in the general population. Musician's dystonia that is severe enough to |
performance of particular tasks, such as writing, playing a musical instrument, |
synonym |
FTSD |
db-key |
C1969807 |
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impact performance occurs in about 1 percent of musicians. |
or participating in a sport. Dystonias are a group of movement problems |
synonym |
occupational cramp |
key |
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characterized by involuntary, sustained muscle contractions, tremors, and other |
synonym |
occupational dystonia |
db-key |
dystonia-ov |
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uncontrolled movements. The term "focal" refers to a type of dystonia that |
synonym |
task-specific dystonia |
key |
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affects a single part of the body, such as the hand or jaw. |
db-key |
D020821 |
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html:p |
Researchers have described several forms of task-specific focal dystonia. The |
key |
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most common is writer's cramp, in which muscle cramps or spasms in the hand, |
db-key |
611284 |
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wrist, or forearm interfere with holding a pen or pencil. Writer's cramp begins |
key |
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in the hand used for writing (the dominant hand) and is usually limited to that |
db-key |
1866 |
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task, but with time it can spread to the other hand and affect other fine-motor |
key |
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activities such as shaving or typing. |
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230330004 |
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html:p |
Musician's dystonia is a form of task-specific focal dystonia characterized by |
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muscle cramps and spasms that occur while playing a musical instrument. This |
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condition can affect amateur or professional musicians, and the location of the |
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dystonia depends on the instrument. Some musicians (such as piano, guitar, and |
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violin players) develop focal hand dystonia, which causes loss of fine-motor |
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control in the hand and wrist muscles. This condition reduces finger |
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coordination, speed, and endurance while playing. Musicians who play woodwind or |
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brass instruments can develop what is known as embouchure dystonia. This |
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condition causes muscle cramps or spasms involving the lips, tongue, or jaw, |
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which prevents normal positioning of the mouth around the instrument's |
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mouthpiece. Musician's dystonia often occurs only when playing a particular |
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instrument. However, over time focal hand dystonia may impair other activities, |
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and embouchure dystonia can worsen to affect eating and speech. |
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html:p |
Task-specific focal dystonia can affect people who play sports and engage in |
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other occupations involving repetitive, highly practiced movements. For example, |
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some golfers experience involuntary jerking of the wrists during putting, a |
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condition known informally as "the yips." Cramps and spasms of the hand and arm |
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muscles can also affect tennis players, billiards players, dart throwers, and |
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other athletes. Additionally, task-specific dystonia has been reported in |
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tailors, shoemakers, hair stylists, and people who frequently type or use a |
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computer mouse. |
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html:p |
The abnormal movements associated with task-specific focal dystonia are usually |
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painless, although they can cause anxiety when they interfere with musical |
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performance and other activities. Severe cases can cause professional |
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disability. |
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related-gene-list |
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Tay-Sachs disease |
https://ghr.nlm.nih.gov/condition/tay-sachs-disease |
Tay-Sachs disease is very rare in the general population. The genetic |
html:p |
Tay-Sachs disease is a rare inherited disorder that progressively destroys nerve |
ar |
autosomal recessive |
HEXA |
https://ghr.nlm.nih.gov/gene/HEXA |
B variant GM2 gangliosidosis |
db |
key |
2012-10 |
2017-12-29 |
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Tay-Sachs 症 |
mutations that cause this disease are more common in people of Ashkenazi |
cells (neurons) in the brain and spinal cord. |
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GM2 gangliosidosis, type 1 |
GTR |
C0039373 |
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戴薩克斯症 |
(eastern and central European) Jewish heritage than in those with other |
html:p |
The most common form of Tay-Sachs disease becomes apparent in infancy. Infants |
HexA deficiency |
db |
key |
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backgrounds. The mutations responsible for this disease are also more common in |
with this disorder typically appear normal until the age of 3 to 6 months, when |
Hexosaminidase A deficiency |
GeneReviews |
tay-sachs |
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certain French-Canadian communities of Quebec, the Old Order Amish community in |
their development slows and muscles used for movement weaken. Affected infants |
Hexosaminidase alpha-subunit deficiency (variant B) |
db |
key |
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Pennsylvania, and the Cajun population of Louisiana. |
lose motor skills such as turning over, sitting, and crawling. They also develop |
Sphingolipidosis, Tay-Sachs |
ICD-10-CM |
E75.02 |
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an exaggerated startle reaction to loud noises. As the disease progresses, |
TSD |
db |
key |
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children with Tay-Sachs disease experience seizures, vision and hearing loss, |
MeSH |
D013661 |
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intellectual disability, and paralysis. An eye abnormality called a cherry-red |
db |
key |
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spot, which can be identified with an eye examination, is characteristic of this |
OMIM |
272800 |
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disorder. Children with this severe infantile form of Tay-Sachs disease usually |
db |
key |
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live only into early childhood. |
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Orphanet |
845 |
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html:p |
Other forms of Tay-Sachs disease are very rare. Signs and symptoms can appear in |
db |
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childhood, adolescence, or adulthood and are usually milder than those seen |
SNOMED CT |
111385000 |
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with the infantile form. Characteristic features include muscle weakness, loss |
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of muscle coordination (ataxia) and other problems with movement, speech |
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problems, and mental illness. These signs and symptoms vary widely among people |
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with late-onset forms of Tay-Sachs disease. |
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related-gene-list |
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Tetra-amelia syndrome |
https://ghr.nlm.nih.gov/condition/tetra-amelia-syndrome |
Tetra-amelia syndrome has been reported in only a few families worldwide. |
html:p |
Tetra-amelia syndrome is a very rare disorder characterized by the absence of |
ar |
autosomal recessive |
WNT3 |
https://ghr.nlm.nih.gov/gene/WNT3 |
Tetra-amelia |
db |
key |
2008-02 |
2017-12-29 |
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先天性四肢切斷綜合症 |
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all four limbs. ("Tetra" is the Greek word for "four," and "amelia" refers to |
Tetra-amelia, autosomal recessive |
GTR |
C2749279 |
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the failure of an arm or leg to develop before birth.) This syndrome can also |
db |
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cause severe malformations of other parts of the body, including the face and |
GeneReviews |
tetra-amelia |
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head, heart, nervous system, skeleton, and genitalia. The lungs are |
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db |
key |
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underdeveloped in many cases, which makes breathing difficult or impossible. |
ICD-10-CM |
Q73.0 |
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Because children with tetra-amelia syndrome have such serious medical problems, |
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most are stillborn or die shortly after birth. |
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MeSH |
D000015 |
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db |
key |
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MeSH |
D004480 |
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db |
key |
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OMIM |
273395 |
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db |
key |
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Orphanet |
3301 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
702313004 |
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Tetrahydrobiopterin deficiency |
https://ghr.nlm.nih.gov/condition/tetrahydrobiopterin-deficiency |
This condition is rare, affecting an estimated 1 in 500,000 to 1 in 1 |
html:p |
Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage |
ar |
autosomal recessive |
GCH1 |
https://ghr.nlm.nih.gov/gene/GCH1 |
BH4 deficiency |
db |
key |
2011-07 |
2017-12-29 |
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四氫生物蝶呤缺乏症 |
million newborns. In most parts of the world, tetrahydrobiopterin deficiency |
(deficiency) of a molecule called tetrahydrobiopterin or BH4. This condition |
related-gene |
gene-symbol |
ghr-page |
hyperphenylalaninemia caused by a defect in biopterin metabolism |
GTR |
C0268465 |
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accounts for 1 to 3 percent of all cases of elevated phenylalanine levels. The |
alters the levels of several substances in the body, including phenylalanine. |
PCBD1 |
https://ghr.nlm.nih.gov/gene/PCBD1 |
hyperphenylalaninemia, non-phenylketonuric |
db |
key |
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remaining cases are caused by a similar condition called phenylketonuria (PKU). |
Phenylalanine is a building block of proteins (an amino acid) that is obtained |
related-gene |
gene-symbol |
ghr-page |
non-phenylketonuric hyperphenylalaninemia |
GTR |
C0268467 |
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In certain countries, including Saudi Arabia, Taiwan, China, and Turkey, it is |
through the diet. It is found in foods that contain protein and in some |
PTS |
https://ghr.nlm.nih.gov/gene/PTS |
db |
key |
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more common for elevated levels of phenylalanine to be caused by |
artificial sweeteners. High levels of phenylalanine are present from early |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0878676 |
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tetrahydrobiopterin deficiency than by PKU. |
infancy in people with untreated tetrahydrobiopterin deficiency. This condition |
QDPR |
https://ghr.nlm.nih.gov/gene/QDPR |
db |
key |
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also alters the levels of chemicals called neurotransmitters, which transmit |
GTR |
C1849700 |
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signals between nerve cells in the brain. |
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db |
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html:p |
Infants with tetrahydrobiopterin deficiency appear normal at birth, but medical |
ICD-10-CM |
E70.1 |
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problems ranging from mild to severe become apparent over time. Signs and |
db |
key |
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symptoms of this condition can include intellectual disability, progressive |
MeSH |
D010661 |
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problems with development, movement disorders, difficulty swallowing, seizures, |
db |
key |
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behavioral problems, and an inability to control body temperature. |
|
OMIM |
233910 |
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db |
key |
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OMIM |
261630 |
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db |
key |
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OMIM |
261640 |
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db |
key |
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OMIM |
264070 |
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db |
key |
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Orphanet |
13 |
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db |
key |
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Orphanet |
226 |
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db |
key |
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Orphanet |
1578 |
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db |
key |
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Orphanet |
2102 |
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db |
key |
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|
SNOMED CT |
23447005 |
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db |
key |
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|
SNOMED CT |
237914002 |
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db |
key |
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|
SNOMED CT |
276261007 |
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SNOMED CT |
45116002 |
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SNOMED CT |
58256000 |
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related-gene-list |
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SNOMED CT |
68724006 |
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Tetrasomy 18p |
https://ghr.nlm.nih.gov/condition/tetrasomy-18p |
Tetrasomy 18p is a rare disorder. It is known to affect about 250 families |
html:p |
Tetrasomy 18p is a chromosomal condition that affects many parts of the body. |
n |
not inherited |
18 |
https://ghr.nlm.nih.gov/chromosome/18 |
18p isochromosome |
db |
key |
2016-04 |
2017-12-29 |
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四體性18p |
worldwide. |
This condition usually causes feeding difficulties in infancy, delayed |
18p tetrasomy |
GTR |
C0795868 |
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development, intellectual disability that is often mild to moderate but can be |
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severe, changes in muscle tone, distinctive facial features, and other birth |
MeSH |
D025063 |
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defects. However, the signs and symptoms vary among affected individuals. |
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html:p |
Babies with tetrasomy 18p often have trouble feeding and may vomit frequently, |
Orphanet |
3307 |
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which makes it difficult for them to gain weight. Some affected infants also |
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have breathing problems and jaundice, which is a yellowing of the skin and the |
SNOMED CT |
698849002 |
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whites of the eyes. |
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html:p |
Changes in muscle tone are commonly seen with tetrasomy 18p. Some affected |
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children have weak muscle tone (hypotonia), while others have increased muscle |
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tone (hypertonia) and stiffness (spasticity). These changes contribute to |
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delayed development of motor skills, including sitting, crawling, and walking. |
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html:p |
Tetrasomy 18p is associated with a distinctive facial appearance that can |
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include unusually shaped and low-set ears, a small mouth, a flat area between |
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the upper lip and the nose (philtrum), and a thin upper lip. Many affected |
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individuals also have a high, arched roof of the mouth (palate), and a few have |
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had a split in the roof of the mouth (cleft palate). |
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html:p |
Additional features of tetrasomy 18p can include seizures, vision problems, |
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recurrent ear infections, mild to moderate hearing loss, constipation and other |
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gastrointestinal problems, abnormal curvature of the spine (scoliosis or |
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kyphosis), a shortage of growth hormone, and birth defects affecting the heart |
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and other organs. Males with tetrasomy 18p may be born with undescended testes |
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(cryptorchidism) or the opening of the urethra on the underside of the penis |
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(hypospadias). Psychiatric conditions, such as attention deficit hyperactivity |
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disorder (ADHD) and anxiety, as well as social and behavioral challenges have |
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also been reported in some people with tetrasomy 18p. |
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related-gene-list |
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Thanatophoric dysplasia, TD |
https://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia |
This condition occurs in 1 in 20,000 to 50,000 newborns. Type I |
html:p |
Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely |
ad |
autosomal dominant |
FGFR3 |
https://ghr.nlm.nih.gov/gene/FGFR3 |
Dwarf, thanatophoric |
db |
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2012-10 |
2017-12-29 |
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致死性畸胎 |
thanatophoric dysplasia is more common than type II. |
short limbs and folds of extra (redundant) skin on the arms and legs. Other |
thanatophoric dwarfism |
GTR |
C1300257 |
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致死性畸胎侏儒症 |
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features of this condition include a narrow chest, short ribs, underdeveloped |
thanatophoric short stature |
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致死性侏儒症 |
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lungs, and an enlarged head with a large forehead and prominent, wide-spaced |
GTR |
C1868678 |
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eyes. |
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html:p |
Researchers have described two major forms of thanatophoric dysplasia, type I |
GeneReviews |
td |
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and type II. Type I thanatophoric dysplasia is distinguished by the presence of |
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curved thigh bones and flattened bones of the spine (platyspondyly). Type II |
ICD-10-CM |
Q77.1 |
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thanatophoric dysplasia is characterized by straight thigh bones and a moderate |
db |
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to severe skull abnormality called a cloverleaf skull. |
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MeSH |
D013796 |
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html:p |
The term thanatophoric is Greek for "death bearing." Infants with thanatophoric |
db |
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dysplasia are usually stillborn or die shortly after birth from respiratory |
OMIM |
187600 |
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failure; however, a few affected individuals have survived into childhood with |
db |
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extensive medical help. |
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OMIM |
187601 |
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db |
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Orphanet |
2655 |
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db |
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SNOMED CT |
29352008 |
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db |
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related-gene-list |
|
SNOMED CT |
389158007 |
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Thiamine-responsive megaloblastic anemia syndrome |
https://ghr.nlm.nih.gov/condition/thiamine-responsive-megaloblastic-anemia-syndr |
Thiamine-responsive megaloblastic anemia syndrome has been reported in |
html:p |
Thiamine-responsive megaloblastic anemia syndrome is a rare condition |
ar |
autosomal recessive |
SLC19A2 |
https://ghr.nlm.nih.gov/gene/SLC19A2 |
Rogers syndrome |
db |
key |
2009-02 |
2017-12-29 |
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ome |
approximately 30 families worldwide. Its prevalence is unknown. |
characterized by hearing loss, diabetes, and a blood disorder called |
Thiamine-responsive myelodysplasia |
GTR |
C0342287 |
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megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number |
TRMA |
db |
key |
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of red blood cells (anemia), and the remaining red blood cells are larger than |
GeneReviews |
trma |
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normal (megaloblastic). The symptoms of this blood disorder may include |
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decreased appetite, lack of energy, headaches, pale skin, diarrhea, and tingling |
MeSH |
D000749 |
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or numbness in the hands and feet. Individuals with thiamine-responsive |
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megaloblastic anemia syndrome begin to show symptoms of megaloblastic anemia |
OMIM |
249270 |
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between infancy and adolescence. This syndrome is called "thiamine-responsive" |
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because the anemia can be treated with high doses of vitamin B1 (thiamine). |
Orphanet |
49827 |
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html:p |
People with thiamine-responsive megaloblastic anemia syndrome develop hearing |
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loss caused by abnormalities of the inner ear (sensorineural hearing loss) |
SNOMED CT |
237617006 |
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during early childhood. It remains unclear whether thiamine treatment can |
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improve hearing or prevent hearing loss. |
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html:p |
Diabetes becomes apparent in affected individuals sometime between infancy and |
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adolescence. Although these individuals develop diabetes during childhood, they |
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do not have the form of the disease that develops most often in children, called |
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type 1 (autoimmune) diabetes. People with thiamine-responsive megaloblastic |
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anemia syndrome usually require insulin to treat their diabetes. In some cases, |
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treatment with thiamine can reduce the amount of insulin a person needs. |
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html:p |
Some individuals with thiamine-responsive megaloblastic anemia syndrome develop |
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optic atrophy, which is the degeneration (atrophy) of the nerves that carry |
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information from the eyes to the brain. Heart and blood vessel (cardiovascular) |
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problems such as heart rhythm abnormalities and heart defects have also been |
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reported in some people with this syndrome. |
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related-gene-list |
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Thiopurine S-methyltransferase deficiency, TPMT |
https://ghr.nlm.nih.gov/condition/thiopurine-s-methyltransferase-deficiency |
Studies suggest that less than 1 percent of individuals in the general |
html:p |
Thiopurine S-methyltransferase (TPMT) deficiency is a condition characterized by |
ac |
autosomal codominant |
TPMT |
https://ghr.nlm.nih.gov/gene/TPMT |
poor metabolism of thiopurines |
db |
key |
2015-04 |
2017-12-29 |
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硫嘌呤甲基轉移酶 |
population have TPMT deficiency. Another 11 percent have moderately reduced |
significantly reduced activity of an enzyme that helps the body process drugs |
thiopurine methyltransferase deficiency |
GTR |
C0342801 |
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(Drug resistance) |
levels of TPMT activity that increase their risk of hematopoietic toxicity with |
called thiopurines. These drugs, which include 6-thioguanine, 6-mercaptopurine, |
TPMT deficiency |
db |
key |
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thiopurine drug treatment. |
and azathioprine, inhibit (suppress) the body's immune system. Thiopurine drugs |
MeSH |
D004342 |
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are used to treat some autoimmune disorders, including Crohn disease and |
db |
key |
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rheumatoid arthritis, which occur when the immune system malfunctions. These |
MeSH |
D011686 |
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drugs are also used to treat several forms of cancer, particularly cancers of |
db |
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blood-forming tissue (leukemias) and cancers of immune system cells (lymphomas). |
OMIM |
610460 |
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Additionally, thiopurine drugs are used in organ transplant recipients to help |
db |
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prevent the immune system from attacking the transplanted organ. |
|
Orphanet |
3315 |
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html:p |
A potential complication of treatment with thiopurine drugs is damage to the |
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bone marrow (hematopoietic toxicity). Although this complication can occur in |
SNOMED CT |
238012003 |
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anyone who takes these drugs, people with TPMT deficiency are at highest risk. |
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Bone marrow normally makes several types of blood cells, including red blood |
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cells, which carry oxygen; white blood cells, which help protect the body from |
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infection; and platelets, which are blood cell fragments that are are involved |
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in blood clotting. Damage to the bone marrow results in myelosuppression, a |
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condition in which the bone marrow is unable to make enough of these cells. A |
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shortage of red blood cells (anemia) can cause pale skin (pallor), weakness, |
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shortness of breath, and extreme tiredness (fatigue). Low numbers of white blood |
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cells (neutropenia) can lead to frequent and potentially life-threatening |
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infections. A shortage of platelets (thrombocytopenia) can cause easy bruising |
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and bleeding. |
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html:p |
Many healthcare providers recommend that patients' TPMT activity levels be |
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tested before thiopurine drugs are prescribed. In people who are found to have |
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reduced enzyme activity, the drugs may be given at a significantly lower dose or |
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different medications can be used to reduce the risk of hematopoietic toxicity. |
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html:p |
TPMT deficiency does not appear to cause any health problems other than those |
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associated with thiopurine drug treatment. |
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related-gene-list |
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Thrombocytopenia-absent radius syndrome |
https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome |
TAR syndrome is a rare disorder, affecting fewer than 1 in 100,000 |
html:p |
Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of |
ar |
autosomal recessive |
RBM8A |
https://ghr.nlm.nih.gov/gene/RBM8A |
chromosome 1q21.1 deletion syndrome, 200-KB |
db |
key |
2017-02 |
2017-12-29 |
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newborns. |
a bone called the radius in each forearm and a shortage (deficiency) of blood |
related-chromosome |
name |
ghr-page |
radial aplasia-amegakaryocytic thrombocytopenia |
GTR |
C0175703 |
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cell fragments involved in clotting (platelets). This platelet deficiency |
1 |
https://ghr.nlm.nih.gov/chromosome/1 |
radial aplasia-thrombocytopenia syndrome |
db |
key |
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(thrombocytopenia) usually appears during infancy and becomes less severe over |
TAR syndrome |
GeneReviews |
tar |
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time; in some cases the platelet levels become normal. |
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thrombocytopenia absent radii |
db |
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html:p |
Thrombocytopenia prevents normal blood clotting, resulting in easy bruising and |
MeSH |
D038062 |
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frequent nosebleeds. Potentially life-threatening episodes of severe bleeding |
db |
key |
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(hemorrhages) may occur in the brain and other organs, especially during the |
OMIM |
274000 |
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first year of life. Hemorrhages can damage the brain and lead to intellectual |
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disability. Affected children who survive this period and do not have damaging |
Orphanet |
3320 |
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hemorrhages in the brain usually have a normal life expectancy and normal |
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intellectual development. |
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SNOMED CT |
85589009 |
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html:p |
The severity of skeletal problems in TAR syndrome varies among affected |
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individuals. The radius, which is the bone on the thumb side of the forearm, is |
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almost always missing in both arms. The other bone in the forearm, which is |
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called the ulna, is sometimes underdeveloped or absent in one or both arms. TAR |
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syndrome is unusual among similar malformations in that affected individuals |
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have thumbs, while people with other conditions involving an absent radius |
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typically do not. However, there may be other abnormalities of the hands, such |
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as webbed or fused fingers (syndactyly) or curved pinky fingers (fifth finger |
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clinodactyly). Some people with TAR syndrome also have skeletal abnormalities |
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affecting the upper arms, legs, or hip sockets. |
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html:p |
Other features that can occur in TAR syndrome include malformations of the heart |
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or kidneys. Some people with this disorder have unusual facial features |
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including a small lower jaw (micrognathia), a prominent forehead, and low-set |
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ears. About half of affected individuals have allergic reactions to cow's milk |
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that may worsen the thrombocytopenia associated with this disorder. |
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related-gene-list |
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Thrombotic thrombocytopenic purpura |
https://ghr.nlm.nih.gov/condition/thrombotic-thrombocytopenic-purpura |
The precise incidence of thrombotic thrombocytopenic purpura is unknown. |
html:p |
Thrombotic thrombocytopenic purpura is a rare disorder that causes blood clots |
ar |
autosomal recessive |
ADAMTS13 |
https://ghr.nlm.nih.gov/gene/ADAMTS13 |
Familial Thrombotic Thrombocytopenia Purpura |
db |
key |
2008-10 |
2017-12-29 |
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血栓性血小板减少性紫癜 |
Researchers estimate that, depending on geographic location, the condition |
(thrombi) to form in small blood vessels throughout the body. These clots can |
Microangiopathic hemolytic anemia |
GTR |
C1268935 |
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affects 1.7 to 11 per million people each year in the United States. For |
cause serious medical problems if they block vessels and restrict blood flow to |
Moschkowitz Disease |
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unknown reasons, the disorder occurs more frequently in women than in men. The |
organs such as the brain, kidneys, and heart. Resulting complications can |
Purpura, Thrombotic Thrombocytopenic |
ICD-10-CM |
D69.42 |
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acquired form of thrombotic thrombocytopenic purpura is much more common than |
include neurological problems (such as personality changes, headaches, |
Thrombotic microangiopathy, familial |
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the familial form. |
confusion, and slurred speech), fever, abnormal kidney function, abdominal pain, |
TTP |
MeSH |
D011697 |
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and heart problems. |
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html:p |
Blood clots normally form to prevent excess blood loss at the site of an injury. |
OMIM |
274150 |
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In people with thrombotic thrombocytopenic purpura, clots develop in blood |
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vessels even in the absence of injury. Blood clots are formed from clumps of |
Orphanet |
54057 |
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cell fragments called platelets, which circulate in the blood and assist with |
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clotting. Because a large number of platelets are used to make clots in people |
SNOMED CT |
373420004 |
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with thrombotic thrombocytopenic purpura, fewer platelets are available in the |
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bloodstream. A reduced level of circulating platelets is known as |
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SNOMED CT |
78129009 |
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thrombocytopenia. Thrombocytopenia can lead to small areas of bleeding just |
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under the surface of the skin, resulting in purplish spots called purpura. |
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html:p |
This disorder also causes red blood cells to break down (undergo hemolysis) |
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prematurely. As blood squeezes past clots within blood vessels, red blood cells |
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can break apart. A condition called hemolytic anemia occurs when red blood cells |
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are destroyed faster than the body can replace them. This type of anemia leads |
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to paleness, yellowing of the eyes and skin (jaundice), fatigue, shortness of |
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breath, and a rapid heart rate. |
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html:p |
There are two major forms of thrombotic thrombocytopenic purpura, an acquired |
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(noninherited) form and a familial form. The acquired form usually appears in |
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late childhood or adulthood. Affected individuals may have a single episode of |
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signs and symptoms, or they may recur over time. The familial form of this |
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disorder is much rarer and typically appears in infancy or early childhood. In |
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people with the familial form, signs and symptoms often recur on a regular |
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basis. |
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related-gene-list |
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Tibial muscular dystrophy |
https://ghr.nlm.nih.gov/condition/tibial-muscular-dystrophy |
Tibial muscular dystrophy is most common in Finland, where it is estimated |
html:p |
Tibial muscular dystrophy is a condition that affects the muscles at the front |
ad |
autosomal dominant |
TTN |
https://ghr.nlm.nih.gov/gene/TTN |
tardive tibial muscular dystrophy |
db |
key |
2012-02 |
2017-12-29 |
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to affect at least 10 per 100,000 people. This condition has also been found in |
of the lower leg. The signs and symptoms of this condition typically appear |
TMD |
GTR |
C1838244 |
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people of Finnish descent living in other countries.Additionally, tibial |
after age 35. The first sign is usually weakness and wasting (atrophy) of a |
Udd distal myopathy |
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muscular dystrophy has been identified in several European families without |
muscle in the lower leg called the tibialis anterior. This muscle helps control |
Udd-Markesbery muscular dystrophy |
GeneReviews |
udd |
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Finnish ancestry. |
up-and-down movement of the foot. Weakness in the tibialis anterior muscle makes |
Udd myopathy |
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it difficult or impossible to walk on the heels, but it usually does not |
|
MeSH |
D049310 |
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interfere significantly with regular walking. |
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db |
key |
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html:p |
Muscle weakness worsens very slowly in people with tibial muscular dystrophy. |
OMIM |
600334 |
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Ten to 20 years after the onset of symptoms, weakness may develop in muscles |
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that help extend the toes (long-toe extensors). Weakness in these muscles makes |
Orphanet |
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it difficult to lift the toes while walking, a condition known as foot drop. |
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Later in life, about one third of people with tibial muscular dystrophy |
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SNOMED CT |
698846009 |
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experience mild to moderate difficulty with walking because of weakness in other |
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leg muscles. However, most affected individuals remain able to walk throughout |
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their lives. |
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html:p |
A small percentage of people with tibial muscular dystrophy have a somewhat |
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different pattern of signs and symptoms than those described above. Starting in |
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childhood, these individuals may have generalized muscle weakness, weakness and |
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atrophy of the thigh muscles (quadriceps) or other muscles in the legs, and |
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weakness affecting muscles in the arms. |
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Tietz syndrome |
https://ghr.nlm.nih.gov/condition/tietz-syndrome |
Tietz syndrome is a rare disorder; its exact prevalence is unknown. Only a |
html:p |
Tietz syndrome is a disorder characterized by profound hearing loss from birth, |
ad |
autosomal dominant |
MITF |
https://ghr.nlm.nih.gov/gene/MITF |
albinism and complete nerve deafness |
db |
key |
2015-12 |
2017-12-29 |
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鐵齒症侯群 |
few affected families have been described in the medical literature. |
fair skin, and light-colored hair. The hearing loss in affected individuals is |
albinism-deafness of Tietz |
GTR |
C0391816 |
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痛性非化脓性肋软骨肿胀 |
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caused by abnormalities of the inner ear (sensorineural hearing loss) and is |
hypopigmentation-deafness syndrome |
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present from birth. Although people with Tietz syndrome are born with white hair |
hypopigmentation/deafness of Tietz |
MeSH |
D017496 |
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and very pale skin, their hair color often darkens over time to blond or red. |
Tietz albinism-deafness syndrome |
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The skin of affected individuals, which sunburns very easily, may tan slightly |
Tietz's syndrome |
OMIM |
103500 |
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or develop reddish freckles with limited sun exposure; however, their skin and |
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hair color remain lighter than those of other members of their family. |
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Orphanet |
42665 |
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html:p |
Tietz syndrome also affects the eyes. The colored part of the eye (the iris) in |
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affected individuals is blue, and specialized cells in the eye called retinal |
SNOMED CT |
403805009 |
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pigment epithelial cells lack their normal pigment. The retinal pigment |
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epithelium nourishes the retina, the part of the eye that detects light and |
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color. The changes to the retinal pigment epithelium are generally detectable |
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only by an eye examination; it is unclear whether the changes affect vision. |
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related-gene-list |
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Timothy syndrome |
https://ghr.nlm.nih.gov/condition/timothy-syndrome |
Timothy syndrome is a rare condition; fewer than 20 people with this |
html:p |
Timothy syndrome is a rare disorder that affects many parts of the body |
ad |
autosomal dominant |
CACNA1C |
https://ghr.nlm.nih.gov/gene/CACNA1C |
Long QT syndrome with syndactyly |
db |
key |
2008-01 |
2017-12-29 |
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disorder have been reported worldwide. The classic type of Timothy syndrome |
including the heart, digits (fingers and toes), and the nervous system. |
LQT8 |
GTR |
C1832916 |
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appears to be more common than the atypical type, which has been identified in |
html:p |
Timothy syndrome is characterized by a heart condition called long QT syndrome, |
TS |
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only two individuals. |
which causes the heart (cardiac) muscle to take longer than usual to recharge |
GeneReviews |
timothy |
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between beats. This abnormality in the heart's electrical system can cause |
db |
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irregular heartbeats (arrhythmia), which can lead to sudden death. Many people |
MeSH |
D000015 |
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with Timothy syndrome are also born with structural heart defects that affect |
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the heart's ability to pump blood effectively. As a result of these serious |
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MeSH |
D008133 |
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heart problems, many people with Timothy syndrome live only into childhood. The |
db |
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most common cause of death is a form of arrhythmia called ventricular |
|
MeSH |
D013576 |
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tachyarrhythmia, in which the lower chambers of the heart (the ventricles) beat |
db |
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abnormally fast and lead to cardiac arrest. |
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OMIM |
601005 |
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html:p |
Timothy syndrome is also characterized by webbing or fusion of the skin between |
db |
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some fingers or toes (cutaneous syndactyly). About half of affected people have |
Orphanet |
65283 |
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distinctive facial features such as a flattened nasal bridge, low-set ears, a |
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small upper jaw, and a thin upper lip. Children with this condition have small, |
SNOMED CT |
699256006 |
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misplaced teeth and frequent cavities (dental caries). Additional signs and |
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symptoms of Timothy syndrome can include baldness at birth, frequent infections, |
SNOMED CT |
719907006 |
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episodes of low blood sugar (hypoglycemia), and an abnormally low body |
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temperature (hypothermia). |
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html:p |
Researchers have found that many children with Timothy syndrome have the |
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characteristic features of autism or similar conditions known as autistic |
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spectrum disorders. Affected children tend to have impaired communication and |
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socialization skills, as well as delayed development of speech and language. |
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Other nervous system abnormalities, including intellectual disability and |
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seizures, can also occur in children with Timothy syndrome. |
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html:p |
Researchers have identified two forms of Timothy syndrome. Type 1, which is |
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also known as the classic type, includes all of the characteristic features |
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described above. Type 2, or the atypical type, causes a more severe form of long |
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QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the |
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classic type, the atypical type does not appear to cause webbing of the fingers |
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or toes. |
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inheritance-pattern-list |
related-gene-list |
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TK2-related mitochondrial DNA depletion syndrome, myopathic form |
https://ghr.nlm.nih.gov/condition/tk2-related-mitochondrial-dna-depletion-syndro |
The prevalence of TK2-MDS is unknown. Approximately 45 cases have been |
html:p |
html:i |
-MDS) is an inherited condition that causes progressive muscle weakness |
ar |
autosomal recessive |
ghr-page |
mitochondrial DNA depletion syndrome 2 (myopathic type) |
db-key |
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2013-09 |
2017-12-29 |
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me-myopathic-form |
described. |
TK2 |
(myopathy). |
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https://ghr.nlm.nih.gov/gene/TK2 |
MTDPS2 |
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GTR |
C3149750 |
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html:p |
The signs and symptoms of TK2-MDS typically begin in early childhood. Development |
TK2-related mitochondrial DNA depletion myopathy |
db-key |
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is usually normal early in life, but as muscle weakness progresses, people with TK2-MDS |
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GeneReviews |
tk2-mtddepl |
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lose motor skills such as standing, walking, eating, and talking. |
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MeSH |
D017240 |
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html:p |
html:i |
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db-key |
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TK2 |
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OMIM |
609560 |
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db-key |
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Orphanet |
254875 |
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html:p |
As the disorder worsens, the muscles that control breathing become weakened and |
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affected individuals frequently have to rely on mechanical ventilation. |
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SNOMED CT |
703527003 |
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Respiratory failure is the most common cause of death in people with TK2-MDS, often occurring |
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in childhood. Rarely, the disorder progresses slowly and affected individuals survive into adolescence or adulthood. |
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related-gene-list |
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Tourette syndrome |
https://ghr.nlm.nih.gov/condition/tourette-syndrome |
Although the exact incidence of Tourette syndrome is uncertain, it is |
html:p |
Tourette syndrome is a complex disorder characterized by repetitive, sudden, and |
u |
pattern unknown |
SLITRK1 |
https://ghr.nlm.nih.gov/gene/SLITRK1 |
Chronic Motor and Vocal Tic Disorder |
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key |
2013-05 |
2017-12-29 |
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妥瑞症 |
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estimated to affect 1 to 10 in 1,000 children. This disorder occurs in |
involuntary movements or noises called tics. Tics usually appear in childhood, |
Gilles de la Tourette Syndrome |
GTR |
C0040517 |
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抽动症 |
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populations and ethnic groups worldwide, and it is more common in males than in |
and their severity varies over time. In most cases, tics become milder and |
Gilles de la Tourette's syndrome |
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females. |
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less frequent in late adolescence and adulthood. |
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GTS |
ICD-10-CM |
F95.2 |
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html:p |
Tourette syndrome involves both motor tics, which are uncontrolled body |
TD |
db |
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movements, and vocal or phonic tics, which are outbursts of sound. Some motor |
Tourette Disorder |
MeSH |
D005879 |
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tics are simple and involve only one muscle group. Simple motor tics, such as |
Tourette's Disease |
db |
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rapid eye blinking, shoulder shrugging, or nose twitching, are usually the first |
TS |
OMIM |
137580 |
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signs of Tourette syndrome. Motor tics also can be complex (involving multiple |
db |
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muscle groups), such as jumping, kicking, hopping, or spinning. |
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Orphanet |
856 |
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html:p |
Vocal tics, which generally appear later than motor tics, also can be simple or |
db |
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complex. Simple vocal tics include grunting, sniffing, and throat-clearing. |
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SNOMED CT |
5158005 |
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More complex vocalizations include repeating the words of others (echolalia) or |
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repeating one's own words (palilalia). The involuntary use of inappropriate or |
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obscene language (coprolalia) is possible, but uncommon, among people with |
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Tourette syndrome. |
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html:p |
In addition to frequent tics, people with Tourette syndrome are at risk for |
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associated problems including attention deficit hyperactivity disorder (ADHD), |
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obsessive-compulsive disorder (OCD), anxiety, depression, and problems with |
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sleep. |
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related-gene-list |
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Townes-Brocks Syndrome |
https://ghr.nlm.nih.gov/condition/townes-brocks-syndrome |
The prevalence of this condition is unknown, although one study estimated |
html:p |
Townes-Brocks syndrome is a genetic condition that affects several parts of the |
ad |
autosomal dominant |
SALL1 |
https://ghr.nlm.nih.gov/gene/SALL1 |
anal-ear-renal-radial malformation syndrome |
db |
key |
2007-10 |
2017-12-29 |
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that it may affect 1 in 250,000 people. It is difficult to determine how |
body. The most common features of this condition are an obstruction of the |
deafness-imperforate anus-hypoplastic thumbs syndrome |
GTR |
C0265246 |
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frequently Townes-Brocks syndrome occurs because the varied signs and symptoms |
anal opening (imperforate anus), abnormally shaped ears, and hand malformations |
imperforate anus-hand and foot anomalies syndrome |
db |
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of this disorder overlap with those of other genetic syndromes. |
that most often affect the thumb. Most people with this condition have at least |
renal-ear-anal-radial syndrome (REAR) |
GeneReviews |
tbs |
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two of these three major features. |
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sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome |
db |
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html:p |
Other possible signs and symptoms of Townes-Brocks syndrome include kidney |
Townes syndrome |
MeSH |
D000015 |
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abnormalities, mild to profound hearing loss, heart defects, and genital |
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malformations. These features vary among affected individuals, even within the |
MeSH |
D001006 |
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same family. Intellectual disability or learning problems have also been |
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db |
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reported in about 10 percent of people with Townes-Brocks syndrome. |
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OMIM |
107480 |
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db |
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Orphanet |
857 |
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related-gene-list |
|
SNOMED CT |
24750000 |
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Transcobalamin deficiency |
https://ghr.nlm.nih.gov/condition/transcobalamin-deficiency |
The prevalence of transcobalamin deficiency is unknown. At least 45 |
html:p |
Transcobalamin deficiency is a disorder that impairs the transport of cobalamin |
ar |
autosomal recessive |
TCN2 |
https://ghr.nlm.nih.gov/gene/TCN2 |
TC deficiency |
db |
key |
2014-10 |
2017-12-29 |
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affected individuals have been described in the medical literature. |
(also known as vitamin B12) within the body. Cobalamin is obtained from the |
TC II deficiency |
GTR |
C0342701 |
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diet; this vitamin is found in animal products such as meat, eggs, and |
TCN2 deficiency |
db |
key |
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shellfish. An inability to transport cobalamin within the body results in cells |
transcobalamin II deficiency |
ICD-10-CM |
D51.2 |
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that lack cobalamin, which they need for many functions including cell growth |
db |
key |
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and division (proliferation) and DNA production. The absence of cobalamin leads |
MeSH |
D008661 |
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to impaired growth, a shortage of blood cells, and many other signs and symptoms |
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that usually become apparent within the first weeks or months of life. |
OMIM |
275350 |
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The first signs of transcobalamin deficiency are typically a failure to gain |
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weight and grow at the expected rate (failure to thrive), vomiting, diarrhea, |
Orphanet |
859 |
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and open sores (ulcers) on the mucous membranes such as the lining inside the |
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mouth. Neurological function is impaired in affected individuals, and they can |
SNOMED CT |
237934001 |
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experience progressive stiffness and weakness in their legs (paraparesis), |
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muscle twitches (myoclonus), or intellectual disability. |
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html:p |
People with transcobalamin deficiency often develop a blood disorder called |
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megaloblastic anemia. Megaloblastic anemia results in a shortage of red blood |
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cells, and the remaining red blood cells are abnormally large. Individuals with |
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transcobalamin deficiency may also have a shortage of white blood cells |
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(neutropenia), which can lead to reduced immune system function. Decreased |
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cellular cobalamin can lead to a buildup of certain compounds in the body, |
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resulting in metabolic conditions known as methylmalonic aciduria or |
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homocystinuria. |
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related-gene-list |
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Transthyretin amyloidosis |
https://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis |
The exact incidence of transthyretin amyloidosis is unknown. In northern |
html:p |
Transthyretin amyloidosis is a slowly progressive condition characterized by the |
ad |
autosomal dominant |
TTR |
https://ghr.nlm.nih.gov/gene/TTR |
Portuguese polyneuritic amyloidosis |
db |
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2009-01 |
2017-12-29 |
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transthyretin引起的澱粉樣變 |
Portugal, the incidence of this condition is thought to be one in 538 people. |
buildup of abnormal deposits of a protein called amyloid (amyloidosis) in the |
Portuguese type familial amyloid neuropathy |
GTR |
C2751492 |
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Transthyretin amyloidosis is less common among Americans of European descent, |
body's organs and tissues. These protein deposits most frequently occur in the |
Swiss type amyloid polyneuropathy |
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where it is estimated to affect one in 100,000 people. The cardiac form of |
peripheral nervous system, which is made up of nerves connecting the brain and |
type I familial amyloid polyneuropathy |
GeneReviews |
tfap |
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transthyretin amyloidosis is more common among people with African ancestry. It |
spinal cord to muscles and sensory cells that detect sensations such as touch, |
type II familial amyloid polyneuropathy |
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is estimated that this form affects between 3 percent and 3.9 percent of African |
pain, heat, and sound. Protein deposits in these nerves result in a loss of |
ICD-10-CM |
E85.1 |
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Americans and approximately 5 percent of people in some areas of West Africa. |
sensation in the extremities (peripheral neuropathy). The autonomic nervous |
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system, which controls involuntary body functions such as blood pressure, heart |
MeSH |
D028227 |
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rate, and digestion, may also be affected by amyloidosis. In some cases, the |
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brain and spinal cord (central nervous system) are affected. Other areas of |
Orphanet |
85447 |
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amyloidosis include the heart, kidneys, eyes, and gastrointestinal tract. The |
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age at which symptoms begin to develop varies widely among individuals with this |
SNOMED CT |
398229007 |
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condition, and is typically between ages 20 and 70. |
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html:p |
There are three major forms of transthyretin amyloidosis, which are |
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SNOMED CT |
4463009 |
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distinguished by their symptoms and the body systems they affect. |
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html:p |
The neuropathic form of transthyretin amyloidosis primarily affects the |
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peripheral and autonomic nervous systems, resulting in peripheral neuropathy and |
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difficulty controlling bodily functions. Impairments in bodily functions can |
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include sexual impotence, diarrhea, constipation, problems with urination, and a |
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sharp drop in blood pressure upon standing (orthostatic hypotension). Some |
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people experience heart and kidney problems as well. Various eye problems may |
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occur, such as cloudiness of the clear gel that fills the eyeball (vitreous |
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opacity), dry eyes, increased pressure in the eyes (glaucoma), or pupils with an |
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irregular or "scalloped" appearance. Some people with this form of |
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transthyretin amyloidosis develop carpal tunnel syndrome, which is characterized |
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by numbness, tingling, and weakness in the hands and fingers. |
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html:p |
The leptomeningeal form of transthyretin amyloidosis primarily affects the |
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central nervous system. In people with this form, amyloidosis occurs in the |
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leptomeninges, which are two thin layers of tissue that cover the brain and |
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spinal cord. A buildup of protein in this tissue can cause stroke and bleeding |
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in the brain, an accumulation of fluid in the brain (hydrocephalus), difficulty |
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coordinating movements (ataxia), muscle stiffness and weakness (spastic |
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paralysis), seizures, and loss of intellectual function (dementia). Eye |
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problems similar to those in the neuropathic form may also occur. When people |
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with leptomeningeal transthyretin amyloidosis have associated eye problems, they |
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are said to have the oculoleptomeningeal form. |
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html:p |
The cardiac form of transthyretin amyloidosis affects the heart. People with |
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cardiac amyloidosis may have an abnormal heartbeat (arrhythmia), an enlarged |
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heart (cardiomegaly), or orthostatic hypertension. These abnormalities can lead |
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to progressive heart failure and death. Occasionally, people with the cardiac |
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form of transthyretin amyloidosis have mild peripheral neuropathy. |
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related-gene-list |
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Treacher Collins syndrome |
https://ghr.nlm.nih.gov/condition/treacher-collins-syndrome |
This condition affects an estimated 1 in 50,000 people. |
html:p |
Treacher Collins syndrome is a condition that affects the development of bones |
ad |
autosomal dominant |
POLR1C |
https://ghr.nlm.nih.gov/gene/POLR1C |
Franceschetti-Zwahlen-Klein syndrome |
db |
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2012-06 |
2017-12-29 |
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Treacher Collins 症候群 |
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and other tissues of the face. The signs and symptoms of this disorder vary |
related-gene |
gene-symbol |
ghr-page |
mandibulofacial dysostosis (MFD1) |
GTR |
C0242387 |
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greatly, ranging from almost unnoticeable to severe. Most affected individuals |
POLR1D |
https://ghr.nlm.nih.gov/gene/POLR1D |
Treacher Collins-Franceschetti syndrome |
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have underdeveloped facial bones, particularly the cheek bones, and a very small |
related-gene |
gene-symbol |
ghr-page |
zygoauromandibular dysplasia |
GTR |
C1855433 |
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jaw and chin (micrognathia). Some people with this condition are also born with |
TCOF1 |
https://ghr.nlm.nih.gov/gene/TCOF1 |
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an opening in the roof of the mouth called a cleft palate. In severe cases, |
GTR |
C3150983 |
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underdevelopment of the facial bones may restrict an affected infant's airway, |
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causing potentially life-threatening respiratory problems. |
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GTR |
CN119605 |
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html:p |
People with Treacher Collins syndrome often have eyes that slant downward, |
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sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. |
GeneReviews |
tcs |
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Some affected individuals have additional eye abnormalities that can lead to |
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vision loss. This condition is also characterized by absent, small, or unusually |
ICD-10-CM |
Q75.4 |
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formed ears. Hearing loss occurs in about half of all affected individuals; |
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hearing loss is caused by defects of the three small bones in the middle ear, |
MeSH |
D008342 |
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which transmit sound, or by underdevelopment of the ear canal. People with |
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Treacher Collins syndrome usually have normal intelligence. |
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OMIM |
154500 |
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OMIM |
248390 |
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OMIM |
613717 |
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Orphanet |
861 |
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related-gene-list |
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SNOMED CT |
82203000 |
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Trichohepatoenteric syndrome |
https://ghr.nlm.nih.gov/condition/trichohepatoenteric-syndrome |
Trichohepatoenteric syndrome is a rare condition with an estimated |
html:p |
Trichohepatoenteric syndrome is a condition that affects the hair (tricho-), |
ar |
autosomal recessive |
SKIV2L |
https://ghr.nlm.nih.gov/gene/SKIV2L |
diarrhea, fatal infantile, with trichorrhexis nodosa |
db |
key |
2014-03 |
2017-12-29 |
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发-肝-肠综合症 |
prevalence of about 1 in 1 million people. At least 44 cases have been reported |
liver (hepato-), and intestines (enteric), as well as other tissues and organs |
related-gene |
gene-symbol |
ghr-page |
diarrhea, syndromic |
GTR |
C1857276 |
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髮-肝-腸症候群 |
in the medical literature. |
in the body. This condition is also known as syndromic diarrhea because chronic, |
TTC37 |
https://ghr.nlm.nih.gov/gene/TTC37 |
intractable diarrhea with phenotypic anomalies |
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difficult-to-treat diarrhea is one of its major features. Within the first few |
phenotypic diarrhea of infancy |
GTR |
C3281289 |
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weeks of life, affected infants develop watery diarrhea that occurs multiple |
SD/THE |
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times per day. Even with nutritional support through intravenous feedings |
syndromic diarrhea |
MeSH |
D003968 |
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(parenteral nutrition), many of these children experience failure to thrive, |
THE syndrome |
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which means they do not gain weight or grow at the expected rate. Most children |
THES |
OMIM |
222470 |
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with trichohepatoenteric syndrome are small at birth, and they remain shorter |
tricho-hepato-enteric syndrome |
db |
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than their peers throughout life. |
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OMIM |
614602 |
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html:p |
Abnormal hair is another feature of trichohepatoenteric syndrome. Hair in |
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affected individuals is described as wooly, brittle, patchy, and easily pulled |
Orphanet |
84064 |
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out. Under a microscope, some strands of hair can be seen to vary in diameter, |
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with thicker and thinner spots. This feature is known as trichorrhexis nodosa. |
SNOMED CT |
703406006 |
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html:p |
Other signs and symptoms of trichohepatoenteric syndrome can include liver |
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disease; skin abnormalities; and distinctive facial features, including a wide |
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forehead, a broad base of the nose, and widely spaced eyes. Overall, the facial |
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features are described as "coarse." Most affected individuals also experience |
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immune system abnormalities that can make them prone to developing infections. |
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Less commonly, trichohepatoenteric syndrome is associated with heart (cardiac) |
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abnormalities. Mild intellectual disability has been reported in at least half |
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of all children with the condition. |
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html:p |
Trichohepatoenteric syndrome is often life-threatening in childhood, |
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particularly in children who develop liver disease or severe infections. |
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related-gene-list |
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Trichorhinophalangeal syndrome type I |
https://ghr.nlm.nih.gov/condition/trichorhinophalangeal-syndrome-type-i |
TRPS I is a rare condition; its prevalence is unknown. In the Netherlands, |
html:p |
Trichorhinophalangeal syndrome type I (TRPS I) is a condition that causes bone |
ad |
autosomal dominant |
TRPS1 |
https://ghr.nlm.nih.gov/gene/TRPS1 |
trichorhinophalangeal dysplasia type I |
db |
key |
2017-06 |
2017-12-29 |
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at least 35 people have TRPS I. |
and joint malformations; distinctive facial features; and abnormalities of the |
TRP syndrome |
GTR |
C0432233 |
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skin, hair, teeth, sweat glands, and nails. The name of the condition describes |
TRPS I |
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some of the areas of the body that are commonly affected: hair (tricho-), nose |
TRPS1 |
GeneReviews |
tps |
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(rhino-), and fingers and toes (phalangeal). |
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html:p |
In people with TRPS I, the ends (epiphyses) of one or more bones in the fingers |
MeSH |
D015826 |
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or toes are abnormally cone-shaped. Additionally, the fingernails and toenails |
db |
key |
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are typically thin and abnormally formed. Affected individuals often have short |
OMIM |
190350 |
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feet. |
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Individuals with TRPS I may have a misalignment of the hip joints (hip |
Orphanet |
324764 |
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dysplasia), which often develops in early adulthood but can occur in infancy or |
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childhood. Children with TRPS I often have an unusually large range of movement |
SNOMED CT |
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(hypermobility) in many of their joints. Over time, however, the joints may |
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break down (degenerate), leading to joint pain and a limited range of joint |
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movement. |
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html:p |
The characteristic appearance of individuals with TRPS I involves thick |
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eyebrows; a broad nose with a rounded tip; large ears, a long, smooth area |
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between the nose and the upper lip (philtrum); a thin upper lip; and small teeth |
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that are either decreased (oligodontia) or increased (supernumerary) in number. |
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Almost all affected individuals have sparse scalp hair. Males are particularly |
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affected by hair loss with many being nearly or completely bald soon after |
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puberty. Some children with this condition have loose skin, but the skin becomes |
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tighter over time. Individuals with TRPS I may experience excessive sweating |
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(hyperhidrosis). |
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related-gene-list |
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Trichorhinophalangeal syndrome type II |
https://ghr.nlm.nih.gov/condition/trichorhinophalangeal-syndrome-type-ii |
TRPS II is a rare condition; its prevalence is unknown. |
html:p |
Trichorhinophalangeal syndrome type II (TRPS II) is a condition that causes bone |
ad |
autosomal dominant |
EXT1 |
https://ghr.nlm.nih.gov/gene/EXT1 |
chromosome 8q24.1 deletion syndrome |
db |
key |
2017-06 |
2017-12-29 |
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and joint malformations; distinctive facial features; intellectual disability; |
related-gene |
gene-symbol |
ghr-page |
Giedion-Langer syndrome |
GTR |
C0023003 |
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and abnormalities of the skin, hair, teeth, sweat glands, and nails. The name of |
RAD21 |
https://ghr.nlm.nih.gov/gene/RAD21 |
Langer-Giedion syndrome |
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the condition describes some of the areas of the body that are commonly |
related-gene |
gene-symbol |
ghr-page |
LGS |
GeneReviews |
tps |
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affected: hair (tricho-), nose (rhino-), and fingers and toes (phalangeal). |
TRPS1 |
https://ghr.nlm.nih.gov/gene/TRPS1 |
tricho-rhino-phalangeal syndrome type II |
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html:p |
People with this condition have multiple noncancerous (benign) bone tumors |
related-chromosome |
name |
ghr-page |
trichorhinophalangeal syndrome with exostosis |
MeSH |
D015826 |
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called osteochondromas. Affected individuals may develop a few to several |
8 |
https://ghr.nlm.nih.gov/chromosome/8 |
TRPS II |
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hundred osteochondromas. These bone growths typically begin in infancy to early |
TRPS2 |
OMIM |
150230 |
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childhood and stop forming around adolescence. Depending on the location of the |
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osteochondromas, they can cause pain, limited range of joint movement, or damage |
Orphanet |
502 |
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to blood vessels or the spinal cord. Individuals with TRPS II may have reduced |
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bone mineral density (osteopenia). Affected individuals often have slow growth |
SNOMED CT |
41069008 |
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before and after birth resulting in short stature. In TRPS II, the ends |
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(epiphyses) of one or more bones in the fingers or toes are abnormally |
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cone-shaped. Additionally, the fingernails and toenails are typically thin and |
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abnormally formed. |
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html:p |
Children with TRPS II often have an unusually large range of joint movement |
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(hypermobility). However, as osteochondromas begin to develop, typically |
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starting between infancy and mid-childhood, the joints begin to stiffen, leading |
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to decreased mobility. Individuals with TRPS II may also have a misalignment of |
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the hip joints (hip dysplasia), which often develops in early adulthood but can |
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occur in infancy or childhood. |
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html:p |
The characteristic appearance of individuals with TRPS II involves thick |
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eyebrows; a broad nose with a rounded tip; a long, smooth area between the nose |
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and the upper lip (philtrum); a thin upper lip; and small teeth that are either |
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decreased (oligodontia) or increased (supernumerary) in number. Almost all |
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affected individuals have sparse scalp hair. Males are particularly affected by |
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hair loss, with many being nearly or completely bald soon after puberty. Some |
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children with this condition have loose skin, but the skin becomes tighter over |
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time. Individuals with TRPS II may experience excessive sweating |
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(hyperhidrosis). |
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html:p |
Most individuals with TRPS II have mild intellectual disability. |
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related-gene-list |
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Trichothiodystrophy |
https://ghr.nlm.nih.gov/condition/trichothiodystrophy |
Trichothiodystrophy has an estimated incidence of about 1 in 1 million |
html:p |
Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition |
ar |
autosomal recessive |
ERCC2 |
https://ghr.nlm.nih.gov/gene/ERCC2 |
Amish brittle hair syndrome |
db |
key |
2010-05 |
2017-12-29 |
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毛髮缺硫性失養 |
newborns in the United States and Europe. About 100 affected individuals have |
that affects many parts of the body. The hallmark of this condition is brittle |
related-gene |
gene-symbol |
ghr-page |
BIDS syndrome |
GTR |
C0740342 |
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been reported worldwide. |
hair that is sparse and easily broken. Tests show that the hair is lacking |
ERCC3 |
https://ghr.nlm.nih.gov/gene/ERCC3 |
brittle hair-intellectual impairment-decreased fertility-short stature syndrome |
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sulfur, an element that normally gives hair its strength. |
related-gene |
gene-symbol |
ghr-page |
IBIDS |
GTR |
C1866504 |
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html:p |
The signs and symptoms of trichothiodystrophy vary widely. Mild cases may |
GTF2H5 |
https://ghr.nlm.nih.gov/gene/GTF2H5 |
PIBIDS |
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involve only the hair. More severe cases also cause delayed development, |
related-gene |
gene-symbol |
ghr-page |
TTD |
GTR |
C1961117 |
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significant intellectual disability, and recurrent infections; severely affected |
MPLKIP |
https://ghr.nlm.nih.gov/gene/MPLKIP |
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individuals may survive only into infancy or early childhood. |
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MeSH |
D054463 |
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html:p |
Mothers of children with trichothiodystrophy may experience problems during |
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pregnancy including pregnancy-induced high blood pressure (preeclampsia) and a |
OMIM |
234050 |
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related condition called HELLP syndrome that can damage the liver. Babies with |
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trichothiodystrophy are at increased risk of premature birth, low birth weight, |
OMIM |
601675 |
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and slow growth. |
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html:p |
Most affected children have short stature compared to others their age. |
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Orphanet |
33364 |
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Intellectual disability and delayed development are common, although most |
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affected individuals are highly social with an outgoing and engaging |
|
SNOMED CT |
254128006 |
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personality. Some have brain abnormalities that can be seen with imaging tests. |
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Trichothiodystrophy is also associated with recurrent infections, particularly |
SNOMED CT |
403796005 |
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respiratory infections, which can be life-threatening. Other features of |
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trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of |
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the fingernails and toenails; clouding of the lens in both eyes from birth |
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(congenital cataracts); poor coordination; and skeletal abnormalities. |
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html:p |
About half of all people with trichothiodystrophy have a photosensitive form of |
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the disorder, which causes them to be extremely sensitive to ultraviolet (UV) |
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rays from sunlight. They develop a severe sunburn after spending just a few |
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minutes in the sun. However, for reasons that are unclear, they do not develop |
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other sun-related problems such as excessive freckling of the skin or an |
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increased risk of skin cancer. Many people with trichothiodystrophy report that |
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they do not sweat. |
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related-gene-list |
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Trimethylaminuria |
https://ghr.nlm.nih.gov/condition/trimethylaminuria |
Trimethylaminuria is an uncommon genetic disorder; its incidence is |
html:p |
Trimethylaminuria is a disorder in which the body is unable to break down |
ad |
autosomal dominant |
FMO3 |
https://ghr.nlm.nih.gov/gene/FMO3 |
fish malodor syndrome |
db |
key |
2013-01 |
2017-12-29 |
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臭魚症 |
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unknown. |
trimethylamine, a chemical compound that has a pungent odor. Trimethylamine has |
fish odor syndrome |
GTR |
C0342739 |
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魚腥味綜合徵 |
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been described as smelling like rotting fish, rotting eggs, garbage, or urine. |
stale fish syndrome |
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(Metabolic) |
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As this compound builds up in the body, it causes affected people to give off a |
TMAU |
GeneReviews |
trimethylaminuria |
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(Odor) |
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strong odor in their sweat, urine, and breath. The intensity of the odor may |
TMAuria |
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vary over time. The odor can interfere with many aspects of daily life, |
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ICD-10-CM |
E72.52 |
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Interesting |
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affecting a person's relationships, social life, and career. Some people with |
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trimethylaminuria experience depression and social isolation as a result of this |
MeSH |
D008661 |
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condition. |
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OMIM |
602079 |
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db |
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Orphanet |
35056 |
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related-gene-list |
|
SNOMED CT |
237959005 |
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Triosephosphate isomerase deficiency |
https://ghr.nlm.nih.gov/condition/triosephosphate-isomerase-deficiency |
Triosephosphate isomerase deficiency is likely a rare condition; |
html:p |
Triosephosphate isomerase deficiency is a disorder characterized by a shortage |
ar |
autosomal recessive |
TPI1 |
https://ghr.nlm.nih.gov/gene/TPI1 |
deficiency of phosphotriose isomerase |
db |
key |
2014-08 |
2017-12-29 |
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磷酸丙糖異構酶缺乏症 |
approximately 40 cases have been reported in the scientific literature. |
of red blood cells (anemia), movement problems, increased susceptibility to |
hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase |
GTR |
C1860808 |
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infection, and muscle weakness that can affect breathing and heart function. |
deficiency |
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html:p |
The anemia in this condition begins in infancy. Since the anemia results from |
TPI deficiency |
ICD-10-CM |
D55.2 |
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the premature breakdown of red blood cells (hemolysis), it is known as hemolytic |
TPID |
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anemia. A shortage of red blood cells to carry oxygen throughout the body leads |
triose phosphate isomerase deficiency |
MeSH |
D002239 |
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to extreme tiredness (fatigue), pale skin (pallor), and shortness of breath. |
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When the red cells are broken down, iron and a molecule called bilirubin are |
OMIM |
615512 |
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released; individuals with triosephosphate isomerase deficiency have an excess |
db |
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of these substances circulating in the blood. Excess bilirubin in the blood |
Orphanet |
868 |
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causes jaundice, which is a yellowing of the skin and the whites of the eyes. |
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html:p |
Movement problems typically become apparent by age 2 in people with |
SNOMED CT |
44641000 |
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triosephosphate isomerase deficiency. The movement problems are caused by |
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impairment of motor neurons, which are specialized nerve cells in the brain and |
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spinal cord that control muscle movement. This impairment leads to muscle |
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weakness and wasting (atrophy) and causes the movement problems typical of |
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triosephosphate isomerase deficiency, including involuntary muscle tensing |
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(dystonia), tremors, and weak muscle tone (hypotonia). Affected individuals may |
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also develop seizures. |
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html:p |
Weakness of other muscles, such as the heart (a condition known as |
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cardiomyopathy) and the muscle that separates the abdomen from the chest cavity |
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(the diaphragm) can also occur in triosephosphate isomerase deficiency. |
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Diaphragm weakness can cause breathing problems and ultimately leads to |
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respiratory failure. |
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Individuals with triosephosphate isomerase deficiency are at increased risk of |
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developing infections because they have poorly functioning white blood cells. |
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These immune system cells normally recognize and attack foreign invaders, such |
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as viruses and bacteria, to prevent infection. The most common infections in |
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people with triosephosphate isomerase deficiency are bacterial infections of the |
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respiratory tract. |
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People with triosephosphate isomerase deficiency often do not survive past |
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childhood due to respiratory failure. In a few rare cases, affected individuals |
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without severe nerve damage or muscle weakness have lived into adulthood. |
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related-gene-list |
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Triple A syndrome |
https://ghr.nlm.nih.gov/condition/triple-a-syndrome |
Triple A syndrome is a rare condition, although its exact prevalence is |
html:p |
Triple A syndrome is an inherited condition characterized by three specific |
ar |
autosomal recessive |
AAAS |
https://ghr.nlm.nih.gov/gene/AAAS |
AAA |
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2010-02 |
2017-12-29 |
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unknown. |
features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that |
AAA syndrome |
GTR |
C0271742 |
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affects the ability to move food through the esophagus, the tube that carries |
Achalasia-addisonian syndrome |
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food from the throat to the stomach. It can lead to severe feeding difficulties |
Achalasia-Addisonianism-Alacrima syndrome |
MeSH |
D000309 |
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and low blood sugar (hypoglycemia). Addison disease, also known as primary |
Achalasia-alacrima syndrome |
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adrenal insufficiency, is caused by abnormal function of the small |
Alacrima-achalasia-adrenal insufficiency neurologic disorder |
MeSH |
D004931 |
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hormone-producing glands on top of each kidney (adrenal glands). The main |
Allgrove syndrome |
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features of Addison disease include fatigue, loss of appetite, weight loss, low |
MeSH |
D007766 |
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blood pressure, and darkening of the skin. The third major feature of triple A |
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syndrome is a reduced or absent ability to secrete tears (alacrima). Most people |
OMIM |
231550 |
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with triple A syndrome have all three of these features, although some have |
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only two. |
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Orphanet |
869 |
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html:p |
Many of the features of triple A syndrome are caused by dysfunction of the |
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autonomic nervous system. This part of the nervous system controls involuntary |
SNOMED CT |
45414006 |
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body processes such as digestion, blood pressure, and body temperature. People |
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with triple A syndrome often experience abnormal sweating, difficulty regulating |
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blood pressure, unequal pupil size (anisocoria), and other signs and symptoms |
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of autonomic nervous system dysfunction (dysautonomia). |
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html:p |
People with this condition may have other neurological abnormalities, such as |
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developmental delay, intellectual disability, speech problems (dysarthria), and |
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a small head size (microcephaly). In addition, affected individuals commonly |
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experience muscle weakness, movement problems, and nerve abnormalities in their |
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extremities (peripheral neuropathy). Some develop optic atrophy, which is the |
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degeneration (atrophy) of the nerves that carry information from the eyes to the |
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brain. Many of the neurological symptoms of triple A syndrome worsen over time. |
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html:p |
People with triple A syndrome frequently develop a thickening of the outer layer |
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of skin (hyperkeratosis) on the palms of their hands and the soles of their |
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feet. Other skin abnormalities may also be present in people with this |
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condition. |
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html:p |
Alacrima is usually the first noticeable sign of triple A syndrome, as it |
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becomes apparent early in life that affected children produce little or no tears |
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while crying. They develop Addison disease and achalasia during childhood or |
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adolescence, and most of the neurologic features of triple A syndrome begin |
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during adulthood. The signs and symptoms of this condition vary among affected |
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individuals, even among members of the same family. |
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related-gene-list |
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Triple X syndrome |
https://ghr.nlm.nih.gov/condition/triple-x-syndrome |
This condition occurs in about 1 in 1,000 newborn girls. Five to 10 girls |
html:p |
Triple X syndrome, also called trisomy X or 47,XXX, is characterized by the |
n |
not inherited |
X |
https://ghr.nlm.nih.gov/chromosome/X |
47,XXX |
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2014-06 |
2017-12-29 |
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三染色體X症候群 |
with triple X syndrome are born in the United States each day. |
presence of an additional X chromosome in each of a female's cells. Although |
47,XXX syndrome |
GTR |
C0221033 |
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females with this condition may be taller than average, this chromosomal change |
triplo X syndrome |
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typically causes no unusual physical features. Most females with triple X |
trisomy X |
ICD-10-CM |
Q97.0 |
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syndrome have normal sexual development and are able to conceive children. |
XXX syndrome |
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html:p |
Triple X syndrome is associated with an increased risk of learning disabilities |
MeSH |
D025064 |
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and delayed development of speech and language skills. Delayed development of |
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motor skills (such as sitting and walking), weak muscle tone (hypotonia), and |
Orphanet |
3375 |
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behavioral and emotional difficulties are also possible, but these |
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characteristics vary widely among affected girls and women. Seizures or kidney |
SNOMED CT |
35111009 |
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abnormalities occur in about 10 percent of affected females. |
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related-gene-list |
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Trisomy 13 |
https://ghr.nlm.nih.gov/condition/trisomy-13 |
Trisomy 13 occurs in about 1 in 16,000 newborns. Although women of any age |
html:p |
Trisomy 13, also called Patau syndrome, is a chromosomal condition associated |
n |
not inherited |
13 |
https://ghr.nlm.nih.gov/chromosome/13 |
Bartholin-Patau syndrome |
db |
key |
2013-11 |
2017-12-29 |
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三染色體13 |
can have a child with trisomy 13, the chance of having a child with this |
with severe intellectual disability and physical abnormalities in many parts of |
complete trisomy 13 syndrome |
GTR |
C0152095 |
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condition increases as a woman gets older. |
the body. Individuals with trisomy 13 often have heart defects, brain or spinal |
Patau syndrome |
db |
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cord abnormalities, very small or poorly developed eyes (microphthalmia), extra |
Patau's syndrome |
ICD-10-CM |
Q91.4 |
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fingers or toes, an opening in the lip (a cleft lip) with or without an opening |
trisomy 13 syndrome |
db |
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in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due |
ICD-10-CM |
Q91.5 |
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to the presence of several life-threatening medical problems, many infants with |
db |
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trisomy 13 die within their first days or weeks of life. Only five percent to |
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ICD-10-CM |
Q91.6 |
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10 percent of children with this condition live past their first year. |
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db |
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ICD-10-CM |
Q91.7 |
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MeSH |
D014314 |
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Orphanet |
3378 |
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SNOMED CT |
21111006 |
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related-gene-list |
|
SNOMED CT |
254268004 |
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Trisomy 18 |
https://ghr.nlm.nih.gov/condition/trisomy-18 |
Trisomy 18 occurs in about 1 in 5,000 live-born infants; it is more common |
html:p |
Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated |
n |
not inherited |
18 |
https://ghr.nlm.nih.gov/chromosome/18 |
complete trisomy 18 syndrome |
db |
key |
2012-03 |
2017-12-29 |
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三染色體18 |
in pregnancy, but many affected fetuses do not survive to term. Although women |
with abnormalities in many parts of the body. Individuals with trisomy 18 often |
Edwards syndrome |
GTR |
C0152096 |
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of all ages can have a child with trisomy 18, the chance of having a child with |
have slow growth before birth (intrauterine growth retardation) and a low birth |
trisomy 18 syndrome |
db |
key |
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this condition increases as a woman gets older. |
weight. Affected individuals may have heart defects and abnormalities of other |
trisomy E syndrome |
ICD-10-CM |
Q91 |
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organs that develop before birth. Other features of trisomy 18 include a small, |
db |
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abnormally shaped head; a small jaw and mouth; and clenched fists with |
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ICD-10-CM |
Q91.0 |
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overlapping fingers. Due to the presence of several life-threatening medical |
db |
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problems, many individuals with trisomy 18 die before birth or within their |
ICD-10-CM |
Q91.1 |
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first month. Five to 10 percent of children with this condition live past their |
db |
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first year, and these children often have severe intellectual disability. |
ICD-10-CM |
Q91.2 |
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db |
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ICD-10-CM |
Q91.3 |
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ICD-10-CM |
Q91.4 |
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db |
key |
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ICD-10-CM |
Q91.5 |
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db |
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ICD-10-CM |
Q91.6 |
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db |
key |
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ICD-10-CM |
Q91.7 |
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db |
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MeSH |
D014314 |
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db |
key |
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Orphanet |
3380 |
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db |
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SNOMED CT |
254266000 |
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db |
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Trisomy 9p syndrome |
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三染色體9p症候群 |
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related-gene-list |
|
SNOMED CT |
51500006 |
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TRNT1 deficiency |
https://ghr.nlm.nih.gov/condition/trnt1-deficiency |
TRNT1 deficiency is a rare condition; its prevalence is unknown. |
html:p |
TRNT1 deficiency is a condition that affects many body systems. Its signs and |
ar |
autosomal recessive |
TRNT1 |
https://ghr.nlm.nih.gov/gene/TRNT1 |
retinitis pigmentosa with erythrocytic microcytosis |
db |
key |
2017-12 |
2017-12-29 |
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Approximately 20 affected individuals have been described in the medical |
symptoms can involve blood cells, the immune system, the eyes, and the nervous |
RPEM |
GTR |
C4015172 |
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literature. |
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system. The severity of the signs and symptoms vary widely. |
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and |
db |
key |
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html:p |
A common feature of TRNT1 deficiency is a blood condition called sideroblastic |
developmental delay |
GTR |
C4310776 |
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anemia, which is characterized by a shortage of red blood cells (anemia). In |
SIFD |
db |
key |
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TRNT1 deficiency, the red blood cells that are present are unusually small |
TRNT1 enzyme deficiency |
MeSH |
D000756 |
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(erythrocytic microcytosis). In addition, developing red blood cells in the bone |
TRNT1-related immunodeficiency |
db |
key |
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marrow (erythroblasts) can have an abnormal buildup of iron that appears as a |
TRNT1-related immunodeficiency+ |
MeSH |
D012174 |
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ring of blue staining in the cell after treatment in the lab with certain dyes. |
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These abnormal cells are called ring sideroblasts. |
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OMIM |
616084 |
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html:p |
Many people with TRNT1 deficiency have an immune system disorder |
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(immunodeficiency) that can lead to recurrent bacterial infections. Repeated |
OMIM |
616959 |
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infections can cause life-threatening damage to internal organs. The |
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immunodeficiency is characterized by low numbers of immune system cells called B |
Orphanet |
1047 |
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cells, which normally help fight infections by producing immune proteins called |
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antibodies (or immunoglobulins). These proteins target foreign invaders such as |
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bacteria and viruses and mark them for destruction. In many individuals with |
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TRNT1 deficiency, the amount of immunoglobulins is also low |
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(hypogammaglobulinemia). |
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html:p |
In addition, many individuals with TRNT1 deficiency have recurrent fevers that |
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are not caused by an infection. These fever episodes are often one of the |
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earliest recognized symptoms of TRNT1 deficiency, usually beginning in infancy. |
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The fever episodes are typically accompanied by poor feeding, vomiting, and |
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diarrhea, and can lead to hospitalization. In many affected individuals, the |
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episodes occur regularly, arising approximately every 2 to 4 weeks and lasting 5 |
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to 7 days, although the frequency can decrease with age. |
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html:p |
Eye abnormalities, often involving the light-sensing tissue at the back of the |
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eye (the retina), can occur in people with TRNT1 deficiency. Some of these |
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individuals have a condition called retinitis pigmentosa, in which the |
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light-sensing cells of the retina gradually deteriorate. Eye problems in TRNT1 |
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deficiency can lead to vision loss. |
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html:p |
Neurological problems are also frequent in TRNT1 deficiency. Many affected |
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individuals have delayed development of speech and motor skills, such as |
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sitting, standing, and walking, and some have low muscle tone (hypotonia). |
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html:p |
Features that occur less commonly in people with TRNT1 deficiency include |
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hearing loss caused by abnormalities of the inner ear (sensorineural hearing |
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loss), recurrent seizures (epilepsy), and problems with the kidneys or heart. |
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html:p |
TRNT1 deficiency encompasses what was first thought to be two separate |
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disorders, a severe disorder called sideroblastic anemia with B-cell |
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immunodeficiency, periodic fevers, and developmental delay (SIFD) and a milder |
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disorder called retinitis pigmentosa with erythrocytic microcytosis (RPEM), each |
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named for its most common features. SIFD begins in infancy, and affected |
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individuals usually do not survive past childhood. RPEM, on the other hand, is |
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recognized in early adulthood, and the microcytosis usually does not cause any |
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health problems. However, it has since been recognized that some individuals |
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have a combination of features that fall between these two ends of the severity |
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spectrum. All of these cases are now considered part of TRNT1 deficiency. |
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related-gene-list |
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Troyer syndrome |
https://ghr.nlm.nih.gov/condition/troyer-syndrome |
About 20 cases of Troyer syndrome have been reported in the Old Order Amish |
html:p |
Troyer syndrome is part of a group of genetic disorders known as hereditary |
ar |
autosomal recessive |
SPART |
https://ghr.nlm.nih.gov/gene/SPART |
Autosomal Recessive Hereditary Spastic Paraplegia |
db |
key |
2008-01 |
2017-12-29 |
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特洛伊綜合症 |
population of Ohio. It has not been found outside this population. |
spastic paraplegias. These disorders are characterized by progressive muscle |
Cross-McKusick syndrome |
GTR |
C0393559 |
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stiffness (spasticity) and the development of paralysis of the lower limbs |
Hereditary Spastic Paraplegia |
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(paraplegia). Hereditary spastic paraplegias are divided into two types: pure |
spastic paraparesis, childhood-onset, with distal muscle wasting |
GeneReviews |
hsp |
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and complex. The pure types involve the lower limbs. The complex types involve |
spastic paraplegia 20, autosomal recessive |
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the lower limbs and can also affect the upper limbs to a lesser degree; the |
spastic paraplegia, autosomal recessive, Troyer type |
GeneReviews |
spg20 |
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structure or functioning of the brain; and the nerves connecting the brain and |
SPG20 |
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spinal cord to muscles and sensory cells that detect sensations such as touch, |
ICD-10-CM |
G11.4 |
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pain, heat, and sound (the peripheral nervous system). Troyer syndrome is a |
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complex hereditary spastic paraplegia. |
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MeSH |
D010264 |
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html:p |
People with Troyer syndrome can experience a variety of signs and symptoms. The |
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most common characteristics of Troyer syndrome are spasticity of the leg |
MeSH |
D015419 |
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muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands |
db |
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and feet (distal amyotrophy), small stature, developmental delay, learning |
OMIM |
275900 |
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disorders, speech difficulties (dysarthria), and mood swings. Other |
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characteristics can include exaggerated reflexes (hyperreflexia) in the lower |
Orphanet |
685 |
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limbs, uncontrollable movements of the limbs (choreoathetosis), skeletal |
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abnormalities, and a bending outward (valgus) of the knees. |
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SNOMED CT |
230264003 |
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html:p |
Troyer syndrome causes the degeneration and death of muscle cells and motor |
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neurons (specialized nerve cells that control muscle movement) throughout a |
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person's lifetime, leading to a slow progressive decline in muscle and nerve |
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function. The severity of impairment related to Troyer syndrome increases as a |
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person ages. Most affected individuals require a wheelchair by the time they |
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are in their fifties or sixties. |
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inheritance-pattern-list |
related-gene-list |
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TUBB4A-related leukodystrophy |
https://ghr.nlm.nih.gov/condition/tubb4a-related-leukodystrophy |
TUBB4A-related leukodystrophy is a rare disorder, although the exact |
html:p |
html:i |
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ad |
autosomal dominant |
ghr-page |
TUBB4A-associated hypomyelinating leukoencephalopathies |
db-key |
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2017-08 |
2017-12-29 |
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prevalence of the condition is unknown. At least 70 affected individuals have |
TUBB4A |
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https://ghr.nlm.nih.gov/gene/TUBB4A |
TUBB4A-related hypomyelinating leukodystrophy |
GTR |
C2676244 |
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been described in the medical literature. |
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GeneReviews |
tubb4a-leuk |
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-related leukodystrophy involves hypomyelination, which means that the nervous |
db-key |
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system has a reduced ability to form myelin. In some affected individuals, |
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MeSH |
D020279 |
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myelin may also break down, which is known as demyelination. |
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html:p |
At the most severe end of the TUBB4A-related leukodystrophy spectrum is a condition called |
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OMIM |
612438 |
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hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). This disorder begins |
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in infancy or early childhood. |
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At the mildest end of the TUBB4A-related leukodystrophy spectrum is a condition called isolated hypomyelination, |
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which begins at any time from late childhood to adulthood. Individuals at this end of the spectrum have mild |
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html:p |
hypomyelination and sometimes mild atrophy of the cerebellum, but no problems with the basal ganglia. |
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html:p |
H-ABC is characterized by particular brain abnormalities, including |
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hypomyelination. In addition, tissue in certain regions of the brain breaks down |
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(atrophies), most prominently in a region called the putamen, which is part of |
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a group of structures that help control movement (the basal ganglia). Atrophy of |
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brain tissue in another region involved in movement called the cerebellum is |
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common, and atrophy of the cerebrum, which controls most voluntary activity, |
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language, sensory perception, learning, and memory, can also occur. |
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html:p |
html:i |
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TUBB4A |
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html:p |
html:i |
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TUBB4A |
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related-gene-list |
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Tuberous sclerosis complex, TSC |
https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex |
Tuberous sclerosis complex affects about 1 in 6,000 people. |
html:p |
Tuberous sclerosis complex is a genetic disorder characterized by the growth of |
ad |
autosomal dominant |
TSC1 |
https://ghr.nlm.nih.gov/gene/TSC1 |
Bourneville disease |
db |
key |
2017-02 |
2017-12-29 |
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結節性硬化症 |
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numerous noncancerous (benign) tumors in many parts of the body. These tumors |
related-gene |
gene-symbol |
ghr-page |
Bourneville phakomatosis |
GTR |
C0041341 |
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can occur in the skin, brain, kidneys, and other organs, in some cases leading |
TSC2 |
https://ghr.nlm.nih.gov/gene/TSC2 |
cerebral sclerosis |
db |
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to significant health problems. Tuberous sclerosis complex also causes |
epiloia |
GTR |
C1854465 |
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developmental problems, and the signs and symptoms of the condition vary from |
sclerosis tuberosa |
db |
key |
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person to person. |
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tuberose sclerosis |
GTR |
C1860707 |
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html:p |
Virtually all affected people have skin abnormalities, including patches of |
db |
key |
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unusually light-colored skin, areas of raised and thickened skin, and growths |
GeneReviews |
tuberous-sclerosis |
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under the nails. Tumors on the face called facial angiofibromas are also common |
db |
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beginning in childhood. |
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ICD-10-CM |
Q85.1 |
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html:p |
Tuberous sclerosis complex often affects the brain, causing seizures, behavioral |
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problems such as hyperactivity and aggression, and intellectual disability or |
MeSH |
D014402 |
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learning problems. Some affected children have the characteristic features of |
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autism, a developmental disorder that affects communication and social |
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OMIM |
191100 |
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interaction. Benign brain tumors can also develop in people with tuberous |
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sclerosis complex; these tumors can cause serious or life-threatening |
Orphanet |
805 |
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complications. |
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html:p |
Kidney tumors are common in people with tuberous sclerosis complex; these |
SNOMED CT |
36025004 |
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growths can cause severe problems with kidney function and may be |
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life-threatening in some cases. Additionally, tumors can develop in the heart, |
SNOMED CT |
7199000 |
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lungs, and the light-sensitive tissue at the back of the eye (the retina). |
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就結節性硬化症,現時有新標靶藥物「Everolimus」能抑制腫瘤增生,但藥費每月約2萬元 |
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related-gene-list |
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Tubular aggregate myopathy |
https://ghr.nlm.nih.gov/condition/tubular-aggregate-myopathy |
Tubular aggregate myopathy is a rare disorder. Its prevalence is unknown. |
html:p |
Tubular aggregate myopathy is a disorder that primarily affects the skeletal |
ad |
autosomal dominant |
ORAI1 |
https://ghr.nlm.nih.gov/gene/ORAI1 |
myopathy with tubular aggregates |
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2017-03 |
2017-12-29 |
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muscles, which are muscles the body uses for movement. This disorder causes |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
TAM |
GTR |
C0410207 |
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muscle pain, cramping, or weakness that begins in childhood and worsens over |
ar |
autosomal recessive |
STIM1 |
https://ghr.nlm.nih.gov/gene/STIM1 |
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time. The muscles of the lower limbs are most often affected, although the upper |
MeSH |
D020914 |
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limbs can also be involved. Affected individuals can have difficulty running, |
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climbing stairs, or getting up from a squatting position. The weakness may also |
OMIM |
160565 |
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lead to an unusual walking style (gait). Some people with this condition develop |
db |
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joint deformities (contractures) in the arms and legs. |
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Orphanet |
2593 |
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html:p |
Skeletal muscles are normally made up of two types of fibers, called type I and |
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type II fibers, in approximately equal quantities. Type I fibers, also called |
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SNOMED CT |
240087000 |
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slow twitch fibers, are used for long, sustained activity, such as walking long |
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distances. Type II fibers, also known as fast twitch fibers, are used for short |
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bursts of strength, which are needed for activities such as running up stairs or |
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sprinting. In people with tubular aggregate myopathy, type II fibers waste away |
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(atrophy), so affected individuals have mostly type I fibers. In addition, |
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proteins build up abnormally in both type I and type II fibers, forming clumps |
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of tube-like structures called tubular aggregates. Tubular aggregates can occur |
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in other muscle disorders, but they are the primary muscle cell abnormality in |
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tubular aggregate myopathy. |
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related-gene-list |
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Tumor necrosis factor receptor-associated periodic syndrome |
https://ghr.nlm.nih.gov/condition/tumor-necrosis-factor-receptor-associated-peri |
TRAPS has an estimated prevalence of one per million individuals; it is the |
html:p |
Tumor necrosis factor receptor-associated periodic syndrome (commonly known as |
ad |
autosomal dominant |
TNFRSF1A |
https://ghr.nlm.nih.gov/gene/TNFRSF1A |
autosomal dominant familial periodic fever |
db |
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2016-02 |
2017-12-29 |
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odic-syndrome |
second most common inherited recurrent fever syndrome, following a similar |
TRAPS) is a condition characterized by recurrent episodes of fever. These fevers |
familial Hibernian fever |
GTR |
C1275126 |
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condition called familial Mediterranean fever. More than 1,000 people worldwide |
typically last about 3 weeks but can last from a few days to a few months. The |
FPF |
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have been diagnosed with TRAPS. |
frequency of the episodes varies greatly among affected individuals; fevers can |
TNF receptor-associated periodic fever syndrome |
MeSH |
D056660 |
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occur anywhere between every 6 weeks to every few years. Some individuals can |
TRAPS |
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go many years without having a fever episode. Fever episodes usually occur |
OMIM |
142680 |
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spontaneously, but sometimes they can be brought on by a variety of triggers, |
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such as minor injury, infection, stress, exercise, or hormonal changes. |
|
Orphanet |
32960 |
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html:p |
During episodes of fever, people with TRAPS can have additional signs and |
db |
key |
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symptoms. These include abdominal and muscle pain and a spreading skin rash, |
SNOMED CT |
403833009 |
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typically found on the limbs. Affected individuals may also experience puffiness |
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or swelling in the skin around the eyes (periorbital edema); joint pain; and |
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inflammation in various areas of the body including the eyes, heart muscle, |
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certain joints, throat, or mucous membranes such as the moist lining of the |
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mouth and digestive tract. Occasionally, people with TRAPS develop amyloidosis, |
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an abnormal buildup of a protein called amyloid in the kidneys that can lead to |
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kidney failure. It is estimated that 15 to 20 percent of people with TRAPS |
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develop amyloidosis, typically in mid-adulthood. |
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html:p |
The fever episodes characteristic of TRAPS can begin at any age, from infancy to |
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late adulthood, but most people have their first episode in childhood. |
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related-gene-list |
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Turner syndrome |
https://ghr.nlm.nih.gov/condition/turner-syndrome |
This condition occurs in about 1 in 2,500 newborn girls worldwide, but it |
html:p |
Turner syndrome is a chromosomal condition that affects development in females. |
n |
not inherited |
SHOX |
https://ghr.nlm.nih.gov/gene/SHOX |
45,X |
db |
key |
2017-10 |
2017-12-29 |
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透納氏症 |
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is much more common among pregnancies that do not survive to term (miscarriages |
The most common feature of Turner syndrome is short stature, which becomes |
related-chromosome |
name |
ghr-page |
monosomy X |
GTR |
C0041408 |
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and stillbirths). |
evident by about age 5. An early loss of ovarian function (ovarian hypofunction |
X |
https://ghr.nlm.nih.gov/chromosome/X |
TS |
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or premature ovarian failure) is also very common. The ovaries develop normally |
Turner's syndrome |
ICD-10-CM |
Q96 |
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at first, but egg cells (oocytes) usually die prematurely and most ovarian |
Ullrich-Turner syndrome |
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tissue degenerates before birth. Many affected girls do not undergo puberty |
ICD-10-CM |
Q96.0 |
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unless they receive hormone therapy, and most are unable to conceive |
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(infertile). A small percentage of females with Turner syndrome retain normal |
ICD-10-CM |
Q96.1 |
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ovarian function through young adulthood. |
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html:p |
About 30 percent of females with Turner syndrome have extra folds of skin on the |
ICD-10-CM |
Q96.2 |
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neck (webbed neck), a low hairline at the back of the neck, puffiness or |
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swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney |
ICD-10-CM |
Q96.3 |
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problems. One third to one half of individuals with Turner syndrome are born |
db |
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with a heart defect, such as a narrowing of the large artery leaving the heart |
ICD-10-CM |
Q96.4 |
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(coarctation of the aorta) or abnormalities of the valve that connects the aorta |
db |
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with the heart (the aortic valve). Complications associated with these heart |
ICD-10-CM |
Q96.8 |
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defects can be life-threatening. |
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html:p |
Most girls and women with Turner syndrome have normal intelligence. |
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ICD-10-CM |
Q96.9 |
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Developmental delays, nonverbal learning disabilities, and behavioral problems |
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are possible, although these characteristics vary among affected individuals. |
MeSH |
D014424 |
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Orphanet |
881 |
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related-gene-list |
|
SNOMED CT |
38804009 |
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Type 1 diabetes |
https://ghr.nlm.nih.gov/condition/type-1-diabetes |
Type 1 diabetes occurs in 10 to 20 per 100,000 people per year in the |
html:p |
Type 1 diabetes is a disorder characterized by abnormally high blood sugar |
u |
pattern unknown |
CCR5 |
https://ghr.nlm.nih.gov/gene/CCR5 |
autoimmune diabetes |
db |
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2013-03 |
2017-12-29 |
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United States. By age 18, approximately 1 in 300 people in the United States |
levels. In this form of diabetes, specialized cells in the pancreas called beta |
related-gene |
gene-symbol |
ghr-page |
diabetes mellitus type 1 |
GTR |
C0011854 |
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develop type 1 diabetes. The disorder occurs with similar frequencies in Europe, |
cells stop producing insulin. Insulin controls how much glucose (a type of |
CTLA4 |
https://ghr.nlm.nih.gov/gene/CTLA4 |
diabetes mellitus, insulin-dependent |
db |
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the United Kingdom, Canada, and New Zealand. Type 1 diabetes occurs much less |
sugar) is passed from the blood into cells for conversion to energy. Lack of |
related-gene |
gene-symbol |
ghr-page |
diabetes mellitus, type 1 |
GTR |
C1832392 |
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frequently in Asia and South America, with reported incidences as low as 1 in 1 |
insulin results in the inability to use glucose for energy or to control the |
FOXP3 |
https://ghr.nlm.nih.gov/gene/FOXP3 |
IDDM |
db |
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million per year. For unknown reasons, during the past 20 years the worldwide |
amount of sugar in the blood. |
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related-gene |
gene-symbol |
ghr-page |
insulin-dependent diabetes mellitus |
GTR |
C1832474 |
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incidence of type 1 diabetes has been increasing by 2 to 5 percent each |
html:p |
Type 1 diabetes can occur at any age; however, it usually develops by early |
HLA-DQA1 |
https://ghr.nlm.nih.gov/gene/HLA-DQA1 |
JOD |
db |
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year.Type 1 diabetes accounts for 5 to 10 percent of cases of diabetes |
adulthood, most often starting in adolescence. The first signs and symptoms of |
related-gene |
gene-symbol |
ghr-page |
juvenile diabetes |
GTR |
C1832605 |
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worldwide. Most people with diabetes have type 2 diabetes, in which the body |
the disorder are caused by high blood sugar and may include frequent urination |
HLA-DQB1 |
https://ghr.nlm.nih.gov/gene/HLA-DQB1 |
juvenile-onset diabetes |
db |
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continues to produce insulin but becomes less able to use it. |
(polyuria), excessive thirst (polydipsia), fatigue, blurred vision, tingling or |
related-gene |
gene-symbol |
ghr-page |
juvenile-onset diabetes mellitus |
GTR |
C1833218 |
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loss of feeling in the hands and feet, and weight loss. These symptoms may recur |
HLA-DRB1 |
https://ghr.nlm.nih.gov/gene/HLA-DRB1 |
T1D |
db |
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during the course of the disorder if blood sugar is not well controlled by |
related-gene |
gene-symbol |
ghr-page |
type 1 diabetes mellitus |
GTR |
C1838259 |
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insulin replacement therapy. Improper control can also cause blood sugar levels |
HNF1A |
https://ghr.nlm.nih.gov/gene/HNF1A |
db |
key |
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to become too low (hypoglycemia). This may occur when the body's needs change, |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1838260 |
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such as during exercise or if eating is delayed. Hypoglycemia can cause |
IL2RA |
https://ghr.nlm.nih.gov/gene/IL2RA |
db |
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headache, dizziness, hunger, shaking, sweating, weakness, and agitation. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1838261 |
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html:p |
Uncontrolled type 1 diabetes can lead to a life-threatening complication called |
IL6 |
https://ghr.nlm.nih.gov/gene/IL6 |
db |
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diabetic ketoacidosis. Without insulin, cells cannot take in glucose. A lack of |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1838262 |
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glucose in cells prompts the liver to try to compensate by releasing more |
INS |
https://ghr.nlm.nih.gov/gene/INS |
db |
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glucose into the blood, and blood sugar can become extremely high. The cells, |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1848042 |
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unable to use the glucose in the blood for energy, respond by using fats |
ITPR3 |
https://ghr.nlm.nih.gov/gene/ITPR3 |
db |
key |
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instead. Breaking down fats to obtain energy produces waste products called |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1852092 |
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ketones, which can build up to toxic levels in people with type 1 diabetes, |
OAS1 |
https://ghr.nlm.nih.gov/gene/OAS1 |
db |
key |
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resulting in diabetic ketoacidosis. Affected individuals may begin breathing |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1854125 |
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rapidly; develop a fruity odor in the breath; and experience nausea, vomiting, |
PTPN22 |
https://ghr.nlm.nih.gov/gene/PTPN22 |
db |
key |
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facial flushing, stomach pain, and dryness of the mouth (xerostomia). In severe |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1857808 |
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cases, diabetic ketoacidosis can lead to coma and death. |
SUMO4 |
https://ghr.nlm.nih.gov/gene/SUMO4 |
db |
key |
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html:p |
Over many years, the chronic high blood sugar associated with diabetes may cause |
GTR |
C1864068 |
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damage to blood vessels and nerves, leading to complications affecting many |
db |
key |
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organs and tissues. The retina, which is the light-sensitive tissue at the back |
GTR |
C1866040 |
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of the eye, can be damaged (diabetic retinopathy), leading to vision loss and |
db |
key |
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eventual blindness. Kidney damage (diabetic nephropathy) may also occur and can |
GTR |
C1866041 |
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lead to kidney failure and end-stage renal disease (ESRD). Pain, tingling, and |
db |
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loss of normal sensation (diabetic neuropathy) often occur, especially in the |
GTR |
C1866519 |
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feet. Impaired circulation and absence of the normal sensations that prompt |
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reaction to injury can result in permanent damage to the feet; in severe cases, |
GTR |
C2675472 |
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the damage can lead to amputation. People with type 1 diabetes are also at |
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increased risk of heart attacks, strokes, and problems with urinary and sexual |
GTR |
C2675864 |
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function. |
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key |
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GTR |
C2675865 |
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db |
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GTR |
C2751697 |
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ICD-10-CM |
E10 |
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db |
key |
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ICD-10-CM |
E10.1 |
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db |
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ICD-10-CM |
E10.2 |
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db |
key |
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ICD-10-CM |
E10.3 |
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db |
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ICD-10-CM |
E10.4 |
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db |
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ICD-10-CM |
E10.5 |
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db |
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ICD-10-CM |
E10.6 |
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db |
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ICD-10-CM |
E10.8 |
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db |
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ICD-10-CM |
E10.9 |
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db |
key |
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ICD-10-CM |
E10.10 |
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db |
key |
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ICD-10-CM |
E10.11 |
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db |
key |
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ICD-10-CM |
E10.21 |
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db |
key |
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ICD-10-CM |
E10.22 |
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db |
key |
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ICD-10-CM |
E10.29 |
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db |
key |
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ICD-10-CM |
E10.31 |
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db |
key |
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ICD-10-CM |
E10.32 |
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db |
key |
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ICD-10-CM |
E10.33 |
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db |
key |
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ICD-10-CM |
E10.34 |
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db |
key |
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ICD-10-CM |
E10.35 |
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db |
key |
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ICD-10-CM |
E10.36 |
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db |
key |
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ICD-10-CM |
E10.39 |
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db |
key |
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ICD-10-CM |
E10.40 |
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db |
key |
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ICD-10-CM |
E10.41 |
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db |
key |
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ICD-10-CM |
E10.42 |
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db |
key |
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ICD-10-CM |
E10.43 |
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db |
key |
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ICD-10-CM |
E10.44 |
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db |
key |
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ICD-10-CM |
E10.49 |
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db |
key |
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ICD-10-CM |
E10.51 |
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db |
key |
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ICD-10-CM |
E10.52 |
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db |
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ICD-10-CM |
E10.59 |
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ICD-10-CM |
E10.61 |
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ICD-10-CM |
E10.62 |
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ICD-10-CM |
E10.63 |
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ICD-10-CM |
E10.64 |
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ICD-10-CM |
E10.65 |
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ICD-10-CM |
E10.69 |
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ICD-10-CM |
E10.311 |
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ICD-10-CM |
E10.319 |
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ICD-10-CM |
E10.321 |
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db |
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ICD-10-CM |
E10.329 |
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db |
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ICD-10-CM |
E10.331 |
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db |
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ICD-10-CM |
E10.339 |
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db |
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ICD-10-CM |
E10.341 |
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db |
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ICD-10-CM |
E10.349 |
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db |
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ICD-10-CM |
E10.351 |
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db |
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ICD-10-CM |
E10.359 |
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db |
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ICD-10-CM |
E10.610 |
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db |
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ICD-10-CM |
E10.618 |
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db |
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ICD-10-CM |
E10.620 |
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db |
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ICD-10-CM |
E10.621 |
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db |
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ICD-10-CM |
E10.622 |
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db |
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ICD-10-CM |
E10.628 |
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db |
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ICD-10-CM |
E10.630 |
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db |
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ICD-10-CM |
E10.638 |
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db |
key |
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ICD-10-CM |
E10.641 |
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db |
key |
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ICD-10-CM |
E10.649 |
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db |
key |
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ICD-10-CM |
O24.01 |
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db |
key |
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ICD-10-CM |
O24.011 |
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db |
key |
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ICD-10-CM |
O24.012 |
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db |
key |
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ICD-10-CM |
O24.013 |
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db |
key |
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ICD-10-CM |
O24.019 |
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db |
key |
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MeSH |
D003922 |
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db |
key |
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|
OMIM |
125852 |
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db |
key |
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OMIM |
222100 |
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db |
key |
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OMIM |
300136 |
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db |
key |
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OMIM |
600318 |
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db |
key |
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OMIM |
600319 |
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db |
key |
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OMIM |
600320 |
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db |
key |
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|
OMIM |
600321 |
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db |
key |
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OMIM |
600883 |
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db |
key |
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OMIM |
601208 |
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db |
key |
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OMIM |
601318 |
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db |
key |
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|
OMIM |
601388 |
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db |
key |
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|
OMIM |
601666 |
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db |
key |
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|
OMIM |
601941 |
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db |
key |
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OMIM |
601942 |
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db |
key |
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|
OMIM |
603266 |
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db |
key |
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|
OMIM |
605598 |
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db |
key |
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|
OMIM |
610155 |
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db |
key |
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|
OMIM |
612520 |
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db |
key |
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|
OMIM |
612521 |
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db |
key |
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|
OMIM |
612522 |
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db |
key |
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|
OMIM |
612622 |
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db |
key |
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|
OMIM |
613006 |
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db |
key |
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Orphanet |
181371 |
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Orphanet |
243377 |
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synonym-list |
db-key-list |
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SNOMED CT |
46635009 |
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Type 2 diabetes |
https://ghr.nlm.nih.gov/condition/type-2-diabetes |
Type 2 diabetes is the most common type of diabetes, accounting for 90 to |
html:p |
Type 2 diabetes is a disorder characterized by abnormally high blood sugar |
u |
pattern unknown |
synonym |
adult-onset diabetes mellitus |
key |
2017-12-29 |
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95 percent of all cases. In 2015, more than 23 million people in the United |
levels. In this form of diabetes, the body stops using and making insulin |
synonym |
AODM |
db-key |
C0011860 |
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States had diagnosed diabetes and an additional 7 million people likely had |
properly. Insulin is a hormone produced in the pancreas that helps regulate |
synonym |
diabetes mellitus, adult-onset |
key |
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undiagnosed diabetes. The prevalence of diabetes increases with age, and the |
blood sugar levels. Specifically, insulin controls how much glucose (a type of |
synonym |
diabetes mellitus, non-insulin-dependent |
db-key |
E11 |
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disease currently affects more than 20 percent of Americans over age 65. It is |
sugar) is passed from the blood into cells, where it is used as an energy |
synonym |
diabetes mellitus, type 2 |
key |
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the seventh leading cause of death in the United States.The risk of diabetes |
source. When blood sugar levels are high (such as after a meal), the pancreas |
synonym |
diabetes mellitus, type II |
db-key |
E11.0 |
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varies by ethnic and geographic background. In the United States, the disease is |
releases insulin to move the excess glucose into cells, which reduces the amount |
synonym |
maturity-onset diabetes |
key |
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most common in Native Americans and Alaska Natives. It also has a higher |
of glucose in the blood. |
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synonym |
maturity-onset diabetes mellitus |
db-key |
E11.00 |
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prevalence among people of African American or Hispanic ancestry than those of |
html:p |
Most people who develop type 2 diabetes first have insulin resistance, a |
synonym |
NIDDM |
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non-Hispanic white or Asian ancestry. Geographically, diabetes is most prevalent |
condition in which the body's cells use insulin less efficiently than normal. As |
synonym |
noninsulin-dependent diabetes mellitus |
db-key |
E11.01 |
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in the southern and Appalachian regions of the United States.The prevalence of |
insulin resistance develops, more and more insulin is needed to keep blood |
synonym |
T2D |
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diabetes is rapidly increasing worldwide. Due to an increase in inactive |
sugar levels in the normal range. To keep up with the increasing need, |
synonym |
type 2 diabetes mellitus |
db-key |
E11.2 |
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(sedentary) lifestyles, obesity, and other risk factors, the frequency of this |
insulin-producing cells in the pancreas (called beta cells) make larger amounts |
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disease has more than quadrupled in the past 35 years. |
of insulin. Over time, the beta cells become less able to respond to blood sugar |
db-key |
E11.3 |
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changes, leading to an insulin shortage that prevents the body from reducing |
key |
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blood sugar levels effectively. Most people have some insulin resistance as they |
db-key |
E11.4 |
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age, but inadequate exercise and excessive weight gain make it worse, greatly |
key |
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increasing the likelihood of developing type 2 diabetes. |
db-key |
E11.5 |
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html:p |
Type 2 diabetes can occur at any age, but it most commonly begins in middle age |
key |
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or later. Signs and symptoms develop slowly over years. They include frequent |
db-key |
E11.6 |
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urination (polyuria), excessive thirst (polydipsia), fatigue, blurred vision, |
key |
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tingling or loss of feeling in the hands and feet (diabetic neuropathy), sores |
db-key |
E11.8 |
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that do not heal well, and weight loss. If blood sugar levels are not controlled |
key |
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through medication or diet, type 2 diabetes can cause long-lasting (chronic) |
db-key |
E11.9 |
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health problems including heart disease and stroke; nerve damage; and damage to |
key |
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the kidneys, eyes, and other parts of the body. |
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db-key |
E11.21 |
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db-key |
E11.22 |
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db-key |
E11.29 |
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db-key |
E11.31 |
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db-key |
E11.32 |
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db-key |
E11.33 |
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db-key |
E11.34 |
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db-key |
E11.35 |
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db-key |
E11.36 |
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db-key |
E11.37 |
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db-key |
E11.39 |
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db-key |
E11.40 |
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db-key |
E11.41 |
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db-key |
E11.42 |
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key |
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db-key |
E11.43 |
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db-key |
E11.44 |
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db-key |
E11.49 |
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db-key |
E11.51 |
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db-key |
E11.52 |
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db-key |
E11.59 |
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db-key |
E11.61 |
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db-key |
E11.62 |
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db-key |
E11.63 |
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db-key |
E11.64 |
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db-key |
E11.65 |
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db-key |
E11.69 |
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db-key |
E11.311 |
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db-key |
E11.319 |
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db-key |
E11.321 |
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db-key |
E11.329 |
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db-key |
E11.331 |
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db-key |
E11.339 |
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db-key |
E11.341 |
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db-key |
E11.349 |
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db-key |
E11.351 |
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db-key |
E11.352 |
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db-key |
E11.353 |
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db-key |
E11.354 |
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db-key |
E11.355 |
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db-key |
E11.359 |
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db-key |
E11.610 |
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db-key |
E11.618 |
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db-key |
E11.620 |
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db-key |
E11.621 |
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db-key |
E11.622 |
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db-key |
E11.628 |
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db-key |
E11.630 |
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db-key |
E11.638 |
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db-key |
E11.641 |
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db-key |
E11.649 |
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db-key |
D003924 |
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db-key |
125853 |
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related-gene-list |
44054006 |
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Type A insulin resistance syndrome |
https://ghr.nlm.nih.gov/condition/type-a-insulin-resistance-syndrome |
Type A insulin resistance syndrome is estimated to affect about 1 in |
html:p |
Type A insulin resistance syndrome is a rare disorder characterized by severe |
ad |
autosomal dominant |
INSR |
https://ghr.nlm.nih.gov/gene/INSR |
diabetes mellitus, insulin-resistant, with acanthosis nigricans |
db |
key |
2014-12 |
2017-12-29 |
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100,000 people worldwide. Because females have more health problems associated |
insulin resistance, a condition in which the body's tissues and organs do not |
code |
memo |
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extreme insulin resistance with acanthosis nigricans, hirsutism and abnormal |
GTR |
C0271690 |
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with the condition, it is diagnosed more often in females than in males. |
respond properly to the hormone insulin. Insulin normally helps regulate blood |
ar |
autosomal recessive |
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insulin receptors |
db |
key |
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sugar levels by controlling how much sugar (in the form of glucose) is passed |
insulin-resistance syndrome type A |
MeSH |
D000052 |
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from the bloodstream into cells to be used as energy. In people with type A |
insulin resistance syndrome, type A |
db |
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insulin resistance syndrome, insulin resistance impairs blood sugar regulation |
insulin resistance - type A |
MeSH |
D007333 |
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and ultimately leads to a condition called diabetes mellitus, in which blood |
insulin-resistant diabetes mellitus and acanthosis nigricans |
db |
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sugar levels can become dangerously high. |
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type A insulin resistance |
OMIM |
610549 |
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html:p |
Severe insulin resistance also underlies the other signs and symptoms of type A |
db |
key |
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insulin resistance syndrome. In affected females, the major features of the |
Orphanet |
2297 |
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condition become apparent in adolescence. Many affected females do not begin |
db |
key |
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menstruation by age 16 (primary amenorrhea) or their periods may be light and |
SNOMED CT |
237651005 |
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irregular (oligomenorrhea). They develop cysts on the ovaries and excessive body |
db |
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hair growth (hirsutism). Most affected females also develop a skin condition |
SNOMED CT |
24203005 |
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called acanthosis nigricans, in which the skin in body folds and creases becomes |
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thick, dark, and velvety. Unlike most people with insulin resistance, females |
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with type A insulin resistance syndrome are usually not overweight. |
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html:p |
The features of type A insulin resistance syndrome are more subtle in affected |
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males. Some males have low blood sugar (hypoglycemia) as the only sign; others |
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may also have acanthosis nigricans. In many cases, males with this condition |
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come to medical attention only when they develop diabetes mellitus in adulthood. |
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html:p |
Type A insulin resistance syndrome is one of a group of related conditions |
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described as inherited severe insulin resistance syndromes. These disorders, |
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which also include Donohue syndrome and Rabson-Mendenhall syndrome, are |
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considered part of a spectrum. Type A insulin resistance syndrome represents the |
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mildest end of the spectrum: its features often do not become apparent until |
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puberty or later, and it is generally not life-threatening. |
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related-gene-list |
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Tyrosine hydroxylase deficiency |
https://ghr.nlm.nih.gov/condition/tyrosine-hydroxylase-deficiency |
The prevalence of TH deficiency is unknown. |
html:p |
Tyrosine hydroxylase (TH) deficiency is a disorder that primarily affects |
ar |
autosomal recessive |
TH |
https://ghr.nlm.nih.gov/gene/TH |
autosomal recessive infantile parkinsonism |
db |
key |
2009-04 |
2017-12-29 |
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酪胺酸羥化酶缺乏症 |
|
movement, with symptoms that may range from mild to severe. |
Segawa syndrome, autosomal recessive |
GTR |
C1854299 |
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(Metabolic) |
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html:p |
The mild form of this disorder is called TH-deficient dopa-responsive dystonia |
TH deficiency |
db |
key |
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(DRD). Symptoms usually appear during childhood. Affected individuals may |
TH-deficient DRD |
GeneReviews |
thdrd |
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exhibit unusual limb positioning and a lack of coordination when walking or |
db |
key |
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running. In some cases, people with TH-deficient DRD have additional movement |
MeSH |
D020734 |
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problems such as shaking when holding a position (postural tremor) or |
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key |
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involuntary upward-rolling movements of the eyes. The movement difficulties may |
OMIM |
605407 |
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slowly increase with age but almost always get better with medical treatment. |
db |
key |
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html:p |
The severe forms of TH deficiency are called infantile parkinsonism and |
Orphanet |
101150 |
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progressive infantile encephalopathy. These forms of the disorder appear soon |
db |
key |
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after birth and are more difficult to treat effectively. |
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SNOMED CT |
715827001 |
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html:p |
Babies with infantile parkinsonism have delayed development of motor skills such |
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as sitting unsupported or reaching for a toy. They may have stiff muscles, |
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especially in the arms and legs; unusual body positioning; droopy eyelids |
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(ptosis); and involuntary upward-rolling eye movements. The autonomic nervous |
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system, which controls involuntary body functions, may also be affected. |
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Resulting signs and symptoms can include constipation, backflow of stomach acids |
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into the esophagus (gastroesophageal reflux), and difficulty regulating blood |
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sugar, body temperature, and blood pressure. People with the infantile |
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parkinsonism form of the disorder may have intellectual disability, speech |
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problems, attention deficit disorder, and psychiatric conditions such as |
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depression, anxiety, or obsessive-compulsive behaviors. |
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html:p |
Progressive infantile encephalopathy is an uncommon severe form of TH |
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deficiency. It is characterized by brain dysfunction and structural |
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abnormalities leading to profound physical and intellectual disability. |
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related-gene-list |
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Tyrosinemia |
https://ghr.nlm.nih.gov/condition/tyrosinemia |
Worldwide, tyrosinemia type I affects about 1 in 100,000 individuals. This |
html:p |
Tyrosinemia is a genetic disorder characterized by disruptions in the multistep |
ar |
autosomal recessive |
FAH |
https://ghr.nlm.nih.gov/gene/FAH |
hereditary tyrosinemia |
db |
key |
2015-08 |
2017-12-29 |
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酪胺酸血症 |
type is more common in Norway where 1 in 60,000 to 74,000 individuals are |
process that breaks down the amino acid tyrosine, a building block of most |
related-gene |
gene-symbol |
ghr-page |
hypertyrosinaemia |
GTR |
C0268487 |
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affected. Tyrosinemia type I is even more common in Quebec, Canada where it |
proteins. If untreated, tyrosine and its byproducts build up in tissues and |
HPD |
https://ghr.nlm.nih.gov/gene/HPD |
hypertyrosinemia |
db |
key |
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occurs in about 1 in 16,000 individuals. In the Saguenay-Lac St. Jean region of |
organs, which can lead to serious health problems. |
related-gene |
gene-symbol |
ghr-page |
tyrosinaemia |
GTR |
C0268490 |
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Quebec, tyrosinemia type I affects 1 in 1,846 people.Tyrosinemia type II occurs |
html:p |
There are three types of tyrosinemia, which are each distinguished by their |
TAT |
https://ghr.nlm.nih.gov/gene/TAT |
db |
key |
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in fewer than 1 in 250,000 individuals worldwide. Tyrosinemia type III is very |
symptoms and genetic cause. Tyrosinemia type I, the most severe form of this |
GTR |
C0268623 |
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rare; only a few cases have been reported. |
disorder, is characterized by signs and symptoms that begin in the first few |
db |
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months of life. Affected infants fail to gain weight and grow at the expected |
GeneReviews |
tyrosinemia |
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rate (failure to thrive) due to poor food tolerance because high-protein foods |
db |
key |
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lead to diarrhea and vomiting. Affected infants may also have yellowing of the |
ICD-10-CM |
E70.21 |
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skin and whites of the eyes (jaundice), a cabbage-like odor, and an increased |
db |
key |
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tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to |
MeSH |
D020176 |
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liver and kidney failure, softening and weakening of the bones (rickets), and an |
db |
key |
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increased risk of liver cancer (hepatocellular carcinoma). Some affected |
|
OMIM |
276600 |
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children have repeated neurologic crises that consist of changes in mental |
db |
key |
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state, reduced sensation in the arms and legs (peripheral neuropathy), abdominal |
OMIM |
276700 |
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pain, and respiratory failure. These crises can last from 1 to 7 days. |
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db |
key |
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Untreated, children with tyrosinemia type I often do not survive past the age of |
OMIM |
276710 |
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10 |
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db |
key |
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html:p |
Tyrosinemia type II can affect the eyes, skin, and mental development. Signs and |
Orphanet |
882 |
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symptoms often begin in early childhood and include eye pain and redness, |
db |
key |
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excessive tearing, abnormal sensitivity to light (photophobia), and thick, |
Orphanet |
28378 |
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painful skin on the palms of their hands and soles of their feet (palmoplantar |
db |
key |
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hyperkeratosis). About 50 percent of individuals with tyrosinemia type II have |
SNOMED CT |
124287008 |
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some degree of intellectual disability. |
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db |
key |
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html:p |
Tyrosinemia type III is the rarest of the three types. The characteristic |
|
SNOMED CT |
124536006 |
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features of this type include intellectual disability, seizures, and periodic |
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key |
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loss of balance and coordination (intermittent ataxia). |
|
|
SNOMED CT |
190694001 |
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html:p |
About 10 percent of newborns have temporarily elevated levels of tyrosine |
db |
key |
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(transient tyrosinemia). In these cases, the cause is not genetic. The most |
SNOMED CT |
271847005 |
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likely causes are vitamin C deficiency or immature liver enzymes due to |
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key |
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premature birth. |
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SNOMED CT |
27373000 |
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db |
key |
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SNOMED CT |
410056006 |
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db |
key |
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SNOMED CT |
413356003 |
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db |
key |
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SNOMED CT |
415764005 |
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db |
key |
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SNOMED CT |
4887000 |
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db |
key |
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SNOMED CT |
52452006 |
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db |
key |
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SNOMED CT |
56595005 |
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db |
key |
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related-gene-list |
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SNOMED CT |
75387001 |
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Ulcerative colitis |
https://ghr.nlm.nih.gov/condition/ulcerative-colitis |
Ulcerative colitis is most common in North America and Western Europe; |
html:p |
Ulcerative colitis is a chronic disorder that affects the digestive system. This |
u |
pattern unknown |
ABCB1 |
https://ghr.nlm.nih.gov/gene/ABCB1 |
colitis gravis |
db |
key |
2016-01 |
2017-12-29 |
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溃疡性结肠炎 |
however the prevalence is increasing in other regions. In North America, |
condition is characterized by abnormal inflammation of the inner surface of the |
related-gene |
gene-symbol |
ghr-page |
idiopathic proctocolitis |
GTR |
C0678202 |
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ulcerative colitis affects approximately 40 to 240 in 100,000 people. It is |
rectum and colon, which make up most of the length of the large intestine. The |
IL10RA |
https://ghr.nlm.nih.gov/gene/IL10RA |
inflammatory bowel disease, ulcerative colitis type |
db |
key |
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estimated that more than 750,000 North Americans are affected by this disorder. |
inflammation usually causes open sores (ulcers) to develop in the large |
related-gene |
gene-symbol |
ghr-page |
UC |
ICD-10-CM |
K51 |
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Ulcerative colitis is more common in whites and people of eastern and central |
intestine. Ulcerative colitis usually appears between ages 15 and 30, although |
IL10RB |
https://ghr.nlm.nih.gov/gene/IL10RB |
db |
key |
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European (Ashkenazi) Jewish descent than among people of other ethnic |
it can develop at any age. The inflammation tends to flare up multiple times |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
K51.0 |
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backgrounds. |
throughout life, which causes recurring signs and symptoms. |
IL23R |
https://ghr.nlm.nih.gov/gene/IL23R |
db |
key |
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html:p |
The most common symptoms of ulcerative colitis are abdominal pain and cramping |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
K51.00 |
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and frequent diarrhea, often with blood, pus, or mucus in the stool. Other signs |
IRF5 |
https://ghr.nlm.nih.gov/gene/IRF5 |
db |
key |
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and symptoms include nausea, loss of appetite, fatigue, and fevers. Chronic |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
K51.01 |
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bleeding from the inflamed and ulcerated intestinal tissue can cause a shortage |
PTPN2 |
https://ghr.nlm.nih.gov/gene/PTPN2 |
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key |
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of red blood cells (anemia) in some affected individuals. People with this |
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ICD-10-CM |
K51.2 |
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disorder have difficulty absorbing enough fluids and nutrients from their diet |
db |
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and often experience weight loss. Affected children usually grow more slowly |
ICD-10-CM |
K51.3 |
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than normal. Less commonly, ulcerative colitis causes problems with the skin, |
db |
key |
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joints, eyes, kidneys, or liver, which are most likely due to abnormal |
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ICD-10-CM |
K51.5 |
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inflammation. |
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db |
key |
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html:p |
Toxic megacolon is a rare complication of ulcerative colitis that can be |
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ICD-10-CM |
K51.8 |
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life-threatening. Toxic megacolon involves widening of the colon and an |
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db |
key |
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overwhelming bacterial infection (sepsis). Ulcerative colitis also increases the |
ICD-10-CM |
K51.9 |
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risk of developing colon cancer, especially in people whose entire colon is |
db |
key |
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inflamed and in people who have had ulcerative colitis for 8 or more years. |
ICD-10-CM |
K51.011 |
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html:p |
Ulcerative colitis is one common form of inflammatory bowel disease (IBD). |
db |
key |
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Another type of IBD, Crohn disease, also causes chronic inflammation of the |
ICD-10-CM |
K51.012 |
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intestines. Unlike ulcerative colitis, which affects only the inner surface of |
db |
key |
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the large intestine, Crohn disease can cause inflammation in any part of the |
ICD-10-CM |
K51.013 |
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digestive system, and the inflammation extends deeper into the intestinal |
db |
key |
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tissue. |
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ICD-10-CM |
K51.014 |
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db |
key |
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ICD-10-CM |
K51.018 |
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db |
key |
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ICD-10-CM |
K51.019 |
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db |
key |
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ICD-10-CM |
K51.20 |
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db |
key |
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ICD-10-CM |
K51.21 |
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db |
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ICD-10-CM |
K51.30 |
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db |
key |
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ICD-10-CM |
K51.31 |
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db |
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ICD-10-CM |
K51.50 |
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db |
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ICD-10-CM |
K51.51 |
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ICD-10-CM |
K51.80 |
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ICD-10-CM |
K51.81 |
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ICD-10-CM |
K51.90 |
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ICD-10-CM |
K51.91 |
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ICD-10-CM |
K51.211 |
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ICD-10-CM |
K51.212 |
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db |
key |
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ICD-10-CM |
K51.213 |
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db |
key |
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ICD-10-CM |
K51.214 |
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db |
key |
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ICD-10-CM |
K51.218 |
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db |
key |
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ICD-10-CM |
K51.219 |
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db |
key |
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ICD-10-CM |
K51.311 |
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db |
key |
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ICD-10-CM |
K51.312 |
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db |
key |
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ICD-10-CM |
K51.313 |
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db |
key |
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ICD-10-CM |
K51.314 |
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db |
key |
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ICD-10-CM |
K51.318 |
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db |
key |
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ICD-10-CM |
K51.319 |
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db |
key |
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ICD-10-CM |
K51.511 |
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db |
key |
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ICD-10-CM |
K51.512 |
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db |
key |
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ICD-10-CM |
K51.513 |
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db |
key |
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ICD-10-CM |
K51.514 |
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db |
key |
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ICD-10-CM |
K51.518 |
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db |
key |
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ICD-10-CM |
K51.519 |
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db |
key |
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ICD-10-CM |
K51.811 |
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db |
key |
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ICD-10-CM |
K51.812 |
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db |
key |
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ICD-10-CM |
K51.813 |
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db |
key |
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ICD-10-CM |
K51.814 |
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db |
key |
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ICD-10-CM |
K51.818 |
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db |
key |
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ICD-10-CM |
K51.819 |
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db |
key |
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ICD-10-CM |
K51.911 |
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db |
key |
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ICD-10-CM |
K51.912 |
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db |
key |
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ICD-10-CM |
K51.913 |
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db |
key |
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ICD-10-CM |
K51.914 |
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db |
key |
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ICD-10-CM |
K51.918 |
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db |
key |
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ICD-10-CM |
K51.919 |
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db |
key |
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|
MeSH |
D003093 |
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db |
key |
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OMIM |
266600 |
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db |
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Orphanet |
771 |
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related-gene-list |
|
SNOMED CT |
64766004 |
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UNC80 deficiency |
https://ghr.nlm.nih.gov/condition/unc80-deficiency |
The prevalence of UNC80 deficiency is unknown. At least 19 affected |
html:p |
UNC80 deficiency is a severe disorder characterized by nervous system and |
ar |
autosomal recessive |
UNC80 |
https://ghr.nlm.nih.gov/gene/UNC80 |
IHPRF2 |
db |
key |
2017-12 |
2017-12-29 |
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individuals have been described in the medical literature. |
developmental problems that are apparent from birth or early infancy. The |
infantile hypotonia with psychomotor retardation and characteristic facies-2 |
GTR |
C4225203 |
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disorder does not typically get worse over time; development of intellectual |
db |
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function and motor skills, such as rolling over and sitting, is slow and |
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GeneReviews |
unc80-def |
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limited, but once skills are learned, they are usually retained. |
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db |
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html:p |
People with UNC80 deficiency have profound intellectual disability. Muscle tone |
MeSH |
D001927 |
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is generally weak (hypotonia), but affected individuals may have increased |
db |
key |
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muscle tone (hypertonia) in the arms and legs. Most people with this disorder |
MeSH |
D053447 |
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never learn to walk. Some affected individuals have feeding difficulties because |
db |
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hypotonia leads to problems controlling movements of the mouth. Speech is also |
OMIM |
616801 |
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generally absent, although in some cases individuals have limited communication |
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using body language, gestures, and signs. Seizures, involuntary side-to-side |
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movements of the eyes (nystagmus), eyes that do not point in the same direction |
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(strabismus), and a high-pitched cry can also occur in this disorder. |
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html:p |
People with UNC80 deficiency are of normal size at birth but grow slowly during |
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infancy and childhood. Unusual facial features typically occur in this disorder, |
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and vary among affected individuals. These features can include a wide, short |
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skull (brachycephaly); a triangular face shape with a prominent forehead |
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(frontal bossing); droopy eyelids (ptosis); folds of skin covering the inner |
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corners of the eyes (epicanthal folds); outside corners of the eyes that point |
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downward (downslanting palpebral fissures); a nose with a prominent bridge and a |
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bulbous or upturned tip; a short, smooth space between the upper lip and nose |
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(philtrum); a mouth that remains open; and low-set ears. Other physical |
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differences that can occur in people with UNC80 deficiency include a short neck, |
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abnormal curvature of the spine (scoliosis), permanently bent joints |
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(contractures), and inward- and upward-turning feet (clubfeet). |
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related-gene-list |
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Uncombable hair syndrome |
https://ghr.nlm.nih.gov/condition/uncombable-hair-syndrome |
The prevalence of uncombable hair syndrome is unknown; at least 100 cases |
html:p |
Uncombable hair syndrome is a condition that is characterized by dry, frizzy |
ad |
autosomal dominant |
PADI3 |
https://ghr.nlm.nih.gov/gene/PADI3 |
cheveux incoiffables |
db |
key |
2017-05 |
2017-12-29 |
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have been described in the scientific literature. There are likely more people |
hair that cannot be combed flat. This condition develops in childhood, often |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
pili trianguli et canaliculi |
GTR |
C0432347 |
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who are undiagnosed because adults who seem unaffected may have had uncombable |
between infancy and age 3, but can appear as late as age 12. Affected children |
ar |
autosomal recessive |
TCHH |
https://ghr.nlm.nih.gov/gene/TCHH |
spun glass hair |
db |
key |
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hair syndrome in childhood. |
have light-colored hair, described as blond or silvery with a glistening sheen. |
related-gene |
gene-symbol |
ghr-page |
UHS |
MeSH |
D006201 |
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The hair does not grow downward but out from the scalp in multiple directions. |
TGM3 |
https://ghr.nlm.nih.gov/gene/TGM3 |
unmanageable hair syndrome |
db |
key |
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interesting |
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Despite its appearance, the hair is not fragile or brittle, and it grows at a |
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OMIM |
191480 |
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normal or slightly slower rate. Only scalp hair is affected in uncombable hair |
db |
key |
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syndrome. |
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OMIM |
617251 |
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html:p |
For unknown reasons, this condition usually improves over time. By adolescence |
db |
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individuals with uncombable hair syndrome have hair that lies flat and has |
OMIM |
617252 |
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normal or nearly normal texture. |
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db |
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Orphanet |
1410 |
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db |
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related-gene-list |
|
SNOMED CT |
254230001 |
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Unverricht-Lundborg disease |
https://ghr.nlm.nih.gov/condition/unverricht-lundborg-disease |
Progressive myoclonus epilepsy is a rare condition. Unverricht-Lundborg |
html:p |
Unverricht-Lundborg disease is a rare inherited form of epilepsy. Affected |
ar |
autosomal recessive |
CSTB |
https://ghr.nlm.nih.gov/gene/CSTB |
Baltic myoclonic epilepsy |
db |
key |
2008-06 |
2017-12-29 |
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disease is believed to be the most common cause of this type of epilepsy, but |
individuals usually begin showing signs and symptoms of the disorder between the |
Baltic myoclonus |
GTR |
C0751785 |
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its worldwide prevalence is unknown. Unverricht-Lundborg disease occurs most |
ages of 6 and 15. |
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Baltic myoclonus epilepsy |
db |
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frequently in Finland, where approximately 4 in 100,000 people are affected. |
html:p |
Unverricht-Lundborg disease is classified as a type of progressive myoclonus |
EPM1 |
GeneReviews |
epm1 |
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epilepsy. People with this disorder experience episodes of involuntary muscle |
Lundborg-Unverricht syndrome |
db |
key |
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jerking or twitching (myoclonus) that increase in frequency and severity over |
Mediterranean myoclonic epilepsy |
MeSH |
D020194 |
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time. Episodes of myoclonus may be brought on by physical exertion, stress, |
myoclonic epilepsy of Unverricht and Lundborg |
db |
key |
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light, or other stimuli. Within 5 to 10 years, the myoclonic episodes may become |
PME |
OMIM |
254800 |
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severe enough to interfere with walking and other everyday activities. |
progressive myoclonic epilepsy |
db |
key |
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html:p |
Affected individuals also usually have seizures involving loss of consciousness, |
progressive myoclonus epilepsy 1 |
Orphanet |
308 |
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muscle rigidity, and convulsions (tonic-clonic or grand mal seizures). Like the |
ULD |
db |
key |
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myoclonic episodes, these may increase in frequency over several years but may |
Unverricht-Lundborg syndrome |
SNOMED CT |
230423006 |
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be controlled with treatment. After several years of progression, the frequency |
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of seizures may stabilize or decrease. |
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html:p |
Eventually people with Unverricht-Lundborg disease may develop problems with |
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balance and coordination (ataxia), involuntary rhythmic shaking called intention |
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tremor because it worsens during movement, difficulty speaking (dysarthria), |
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depression, and a slow, mild decline in intellectual functioning. |
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html:p |
People with Unverricht-Lundborg disease typically live into adulthood. Depending |
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on the severity of the condition and a person's response to treatment, life |
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expectancy may be normal. |
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Urea cycle disorders |
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尿素循環障礙疾病 |
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related-gene-list |
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Uromodulin-associated kidney disease |
https://ghr.nlm.nih.gov/condition/uromodulin-associated-kidney-disease |
The prevalence of uromodulin-associated kidney disease is unknown. It |
html:p |
Uromodulin-associated kidney disease is an inherited condition that affects the |
ad |
autosomal dominant |
UMOD |
https://ghr.nlm.nih.gov/gene/UMOD |
Familial gout-kidney disease |
db |
key |
2009-12 |
2017-12-29 |
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尿调素相关肾脏病 |
accounts for fewer than 1 percent of cases of kidney disease. |
kidneys. The signs and symptoms of this condition vary, even among members of |
Familial gouty nephropathy |
GTR |
C0268113 |
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the same family. |
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Familial juvenile hyperuricemic nephropathy |
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html:p |
Many individuals with uromodulin-associated kidney disease develop high blood |
FJHN |
GTR |
C1835934 |
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levels of a waste product called uric acid. Normally, the kidneys remove uric |
MCKD2 |
db |
key |
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acid from the blood and transfer it to urine. In this condition, the kidneys are |
Medullary cystic kidney disease type 2 |
GTR |
C1859040 |
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unable to remove uric acid from the blood effectively. A buildup of uric acid |
UMAK |
db |
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can cause gout, which is a form of arthritis resulting from uric acid crystals |
UMOD-related kidney disease |
GeneReviews |
mckd2 |
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in the joints. The signs and symptoms of gout may appear as early as a person's |
Uromodulin storage disease |
db |
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teens in uromodulin-associated kidney disease. |
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MeSH |
D007674 |
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html:p |
Uromodulin-associated kidney disease causes slowly progressive kidney disease, |
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with the signs and symptoms usually beginning during the teenage years. The |
OMIM |
162000 |
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kidneys become less able to filter fluids and waste products from the body as |
db |
key |
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this condition progresses, resulting in kidney failure. Individuals with |
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OMIM |
603860 |
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uromodulin-associated kidney disease typically require either dialysis to remove |
db |
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wastes from the blood or a kidney transplant between the ages of 30 and 70. |
OMIM |
609886 |
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Occasionally, affected individuals are found to have small kidneys or kidney |
db |
key |
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cysts (medullary cysts). |
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Orphanet |
34149 |
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db |
key |
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SNOMED CT |
445503007 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
46785007 |
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Usher syndrome |
https://ghr.nlm.nih.gov/condition/usher-syndrome |
Types I and II are the most common forms of Usher syndrome in most |
html:p |
Usher syndrome is a condition characterized by partial or total hearing loss and |
ar |
autosomal recessive |
ADGRV1 |
https://ghr.nlm.nih.gov/gene/ADGRV1 |
deafness-retinitis pigmentosa syndrome |
db |
key |
2017-11 |
2017-12-29 |
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尤塞氏綜合症 |
countries. Certain genetic mutations resulting in type 1 Usher syndrome are more |
vision loss that worsens over time. The hearing loss is classified as |
related-gene |
gene-symbol |
ghr-page |
Graefe-Usher syndrome |
GTR |
C0271097 |
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(Hearing) |
common among people of Ashkenazi (eastern and central European) Jewish or |
sensorineural, which means that it is caused by abnormalities of the inner ear. |
CDH23 |
https://ghr.nlm.nih.gov/gene/CDH23 |
Hallgren syndrome |
db |
key |
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(Vision) |
|
French Acadian heritage than in the general population.Type III represents only |
The loss of vision is caused by an eye disease called retinitis pigmentosa (RP), |
related-gene |
gene-symbol |
ghr-page |
retinitis pigmentosa-deafness syndrome |
GTR |
C0339534 |
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about 2 percent of all Usher syndrome cases overall. However, type III occurs |
which affects the layer of light-sensitive tissue at the back of the eye (the |
CIB2 |
https://ghr.nlm.nih.gov/gene/CIB2 |
Usher's syndrome |
db |
key |
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more frequently in the Finnish population, where it accounts for about 40 |
retina). Vision loss occurs as the light-sensing cells of the retina gradually |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1568247 |
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percent of cases, and among people of Ashkenazi Jewish heritage. |
deteriorate. Night vision loss begins first, followed by blind spots that |
CLRN1 |
https://ghr.nlm.nih.gov/gene/CLRN1 |
db |
key |
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develop in the side (peripheral) vision. Over time, these blind spots enlarge |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1568248 |
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and merge to produce tunnel vision. In some cases, vision is further impaired by |
HARS |
https://ghr.nlm.nih.gov/gene/HARS |
db |
key |
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clouding of the lens of the eye (cataracts). However, many people with |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1568249 |
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retinitis pigmentosa retain some central vision throughout their lives. |
MYO7A |
https://ghr.nlm.nih.gov/gene/MYO7A |
db |
key |
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html:p |
Researchers have identified three major types of Usher syndrome, designated as |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1832845 |
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types I, II, and III. These types are distinguished by the severity of hearing |
PCDH15 |
https://ghr.nlm.nih.gov/gene/PCDH15 |
db |
key |
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loss, the presence or absence of balance problems, and the age at which signs |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1847089 |
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and symptoms appear. The types are further divided into subtypes based on their |
USH1C |
https://ghr.nlm.nih.gov/gene/USH1C |
db |
key |
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genetic cause. |
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related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1848604 |
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html:p |
Most individuals with Usher syndrome type I are born with severe to profound |
USH1G |
https://ghr.nlm.nih.gov/gene/USH1G |
db |
key |
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hearing loss. Progressive vision loss caused by retinitis pigmentosa becomes |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1848634 |
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apparent in childhood. This type of Usher syndrome also causes abnormalities of |
USH2A |
https://ghr.nlm.nih.gov/gene/USH2A |
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the vestibular system, which is the part of the inner ear that helps maintain |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1848638 |
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the body's balance and orientation in space. As a result of the vestibular |
WHRN |
https://ghr.nlm.nih.gov/gene/WHRN |
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abnormalities, children with the condition have trouble with balance. They begin |
GTR |
C1854237 |
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sitting independently and walking later than usual, and they may have |
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difficulty riding a bicycle and playing certain sports. |
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GTR |
C1865865 |
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html:p |
Usher syndrome type II is characterized by hearing loss from birth and |
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progressive vision loss that begins in adolescence or adulthood. The hearing |
GTR |
C1865885 |
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loss associated with this form of Usher syndrome ranges from mild to severe and |
db |
key |
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mainly affects the ability to hear high-frequency sounds. For example, it is |
GTR |
C2675458 |
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difficult for affected individuals to hear high, soft speech sounds, such as |
db |
key |
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those of the letters d and t. The degree of hearing loss varies within and among |
GTR |
C3148929 |
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families with this condition, and it may become more severe over time. Unlike |
db |
key |
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the other forms of Usher syndrome, type II is not associated with vestibular |
GTR |
C3281066 |
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abnormalities that cause difficulties with balance. |
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key |
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html:p |
People with Usher syndrome type III experience hearing loss and vision loss |
GTR |
C3539124 |
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beginning somewhat later in life. Unlike the other forms of Usher syndrome, type |
db |
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III is usually associated with normal hearing at birth. Hearing loss typically |
GTR |
C3553944 |
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begins during late childhood or adolescence, after the development of speech, |
db |
key |
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and becomes more severe over time. By middle age, most affected individuals have |
GTR |
CN121478 |
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profound hearing loss. Vision loss caused by retinitis pigmentosa also develops |
db |
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in late childhood or adolescence. Some people with Usher syndrome type III |
GeneReviews |
usher1 |
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develop vestibular abnormalities that cause problems with balance. |
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key |
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GeneReviews |
usher2 |
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db |
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MeSH |
D052245 |
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db |
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OMIM |
276900 |
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db |
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OMIM |
276901 |
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db |
key |
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OMIM |
276902 |
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db |
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OMIM |
276904 |
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db |
key |
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OMIM |
601067 |
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db |
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OMIM |
602083 |
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db |
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OMIM |
602097 |
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db |
key |
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OMIM |
605472 |
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db |
key |
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OMIM |
606943 |
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db |
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OMIM |
611383 |
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db |
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OMIM |
612632 |
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db |
key |
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OMIM |
614504 |
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db |
key |
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OMIM |
614869 |
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db |
key |
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OMIM |
614990 |
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db |
key |
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Orphanet |
886 |
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db |
key |
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|
SNOMED CT |
232057003 |
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db |
key |
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SNOMED CT |
57838006 |
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db |
key |
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related-gene-list |
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SNOMED CT |
73119000 |
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UV-sensitive syndrome |
https://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome |
UV-sensitive syndrome appears to be a rare condition; only a small number |
html:p |
UV-sensitive syndrome is a condition that is characterized by sensitivity to the |
ar |
autosomal recessive |
ERCC6 |
https://ghr.nlm.nih.gov/gene/ERCC6 |
ultraviolet sensitive syndrome |
db |
key |
2012-07 |
2017-12-29 |
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of affected individuals have been reported in the scientific literature. |
ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can |
related-gene |
gene-symbol |
ghr-page |
UVSS |
GTR |
C1833561 |
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However, this condition may be underdiagnosed. |
cause a sunburn in affected individuals. In addition, these individuals can have |
ERCC8 |
https://ghr.nlm.nih.gov/gene/ERCC8 |
db |
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freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C3553298 |
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of skin after repeated exposure. Some people with UV-sensitive syndrome have |
UVSSA |
https://ghr.nlm.nih.gov/gene/UVSSA |
db |
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small clusters of enlarged blood vessels just under the skin (telangiectasia), |
GTR |
C3553328 |
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usually on the cheeks and nose. Although UV exposure can cause skin cancers, |
db |
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people with UV-sensitive syndrome do not have an increased risk of developing |
MeSH |
D010787 |
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these forms of cancer compared with the general population. |
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OMIM |
600630 |
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db |
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OMIM |
614621 |
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db |
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OMIM |
614640 |
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db |
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Orphanet |
178338 |
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db |
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synonym-list |
db-key-list |
|
SNOMED CT |
698253007 |
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VACTERL association |
https://ghr.nlm.nih.gov/condition/vacterl-association |
VACTERL association occurs in 1 in 10,000 to 40,000 newborns. |
html:p |
VACTERL association is a disorder that affects many body systems. VACTERL stands |
u |
pattern unknown |
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|
key |
2017-12-29 |
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for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal |
db-key |
C1735591 |
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fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL |
key |
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association typically have at least three of these characteristic features. |
db-key |
D000015 |
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Affected individuals may have additional abnormalities that are not among the |
key |
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characteristic features of VACTERL association. |
|
db-key |
192350 |
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html:p |
Defects in the bones of the spine (vertebrae) are present in 60 to 80 percent of |
key |
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people with VACTERL association. These defects may include misshapen vertebrae, |
db-key |
887 |
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fused vertebrae, and missing or extra vertebrae. In some people, spinal |
key |
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problems require surgery or cause health problems, such as back pain of varying |
db-key |
27742002 |
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severity, throughout life. Sixty to 90 percent of individuals with VACTERL |
key |
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association have narrowing or blockage of the anus (anal atresia). Anal atresia |
431395004 |
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may be accompanied by abnormalities of the genitalia and urinary tract |
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(genitourinary anomalies). Heart (cardiac) defects occur in 40 to 80 percent of |
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individuals with VACTERL association. Cardiac defects can range in severity from |
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a life-threatening problem to a subtle defect that does not cause health |
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problems. Fifty to 80 percent of people with VACTERL association have a |
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tracheo-esophageal fistula, which is an abnormal connection (fistula) between |
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the esophagus and the windpipe (trachea). Tracheo-esophageal fistula can cause |
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problems with breathing and feeding early in life and typically requires |
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surgical correction in infancy. Kidney (renal) anomalies occur in 50 to 80 |
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percent of individuals with VACTERL association. Affected individuals may be |
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missing one or both kidneys or have abnormally developed or misshapen kidneys, |
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which can affect kidney function. Limb abnormalities are seen in 40 to 50 |
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percent of people with VACTERL association. These abnormalities most commonly |
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include poorly developed or missing thumbs or underdeveloped forearms and hands. |
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html:p |
Some of the features of VACTERL association can be subtle and are not identified |
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until late in childhood or adulthood, making diagnosis of this condition |
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difficult. |
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related-gene-list |
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Van der Woude syndrome |
https://ghr.nlm.nih.gov/condition/van-der-woude-syndrome |
Van der Woude syndrome is believed to occur in 1 in 35,000 to 1 in 100,000 |
html:p |
Van der Woude syndrome is a condition that affects the development of the face. |
ad |
autosomal dominant |
IRF6 |
https://ghr.nlm.nih.gov/gene/IRF6 |
cleft lip and/or palate with mucous cysts of lower lip |
db |
key |
2008-04 |
2017-12-29 |
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|
唇顎裂症候群 |
people, based on data from Europe and Asia. Van der Woude syndrome is the most |
Many people with this disorder are born with a cleft lip, a cleft palate (an |
lip-pit syndrome |
GTR |
C0175697 |
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common cause of cleft lip and palate resulting from variations in a single gene, |
opening in the roof of the mouth), or both. Affected individuals usually have |
VDWS |
db |
key |
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and this condition accounts for approximately 1 in 50 such cases. |
depressions (pits) near the center of the lower lip, which may appear moist due |
VWS |
GeneReviews |
vws |
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to the presence of salivary and mucous glands in the pits. Small mounds of |
db |
key |
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tissue on the lower lip may also occur. In some cases, people with van der Woude |
MeSH |
D019465 |
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syndrome have missing teeth. |
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db |
key |
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html:p |
People with van der Woude syndrome who have cleft lip and/or palate, like other |
OMIM |
119300 |
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individuals with these facial conditions, have an increased risk of delayed |
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language development, learning disabilities, or other mild cognitive problems. |
Orphanet |
888 |
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The average IQ of individuals with van der Woude syndrome is not significantly |
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different from that of the general population. |
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SNOMED CT |
79261008 |
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related-gene-list |
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Very long-chain acyl-CoA dehydrogenase deficiency |
https://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficie |
VLCAD deficiency is estimated to affect 1 in 40,000 to 120,000 people. |
html:p |
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that |
ar |
autosomal recessive |
ACADVL |
https://ghr.nlm.nih.gov/gene/ACADVL |
ACADVL |
db |
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2009-11 |
2017-12-29 |
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極長鏈醯輔酶A去氫酶缺乏症 |
ncy |
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prevents the body from converting certain fats to energy, particularly during |
acyl-CoA dehydrogenase very long chain deficiency |
GTR |
C3887523 |
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periods without food (fasting). |
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very long-chain acyl coenzyme A dehydrogenase deficiency |
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html:p |
Signs and symptoms of VLCAD deficiency typically appear during infancy or early |
very long-chain acyl-coenzyme A dehydrogenase deficiency |
GeneReviews |
vlcad |
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childhood and can include low blood sugar (hypoglycemia), lack of energy |
VLCAD-C |
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(lethargy), and muscle weakness. Affected individuals are also at risk for |
VLCAD deficiency |
ICD-10-CM |
E71.310 |
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serious complications such as liver abnormalities and life-threatening heart |
VLCAD-H |
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problems. When symptoms begin in adolescence or adulthood, they tend to be |
MeSH |
D008052 |
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milder and usually do not involve the heart. |
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html:p |
Problems related to VLCAD deficiency can be triggered by periods of fasting, |
OMIM |
201475 |
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illness, and exercise. This disorder is sometimes mistaken for Reye syndrome, a |
db |
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severe disorder that may develop in children while they appear to be recovering |
Orphanet |
26793 |
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from viral infections such as chicken pox or flu. Most cases of Reye syndrome |
db |
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are associated with the use of aspirin during these viral infections. |
|
SNOMED CT |
237997005 |
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related-gene-list |
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Vibratory urticaria |
https://ghr.nlm.nih.gov/condition/vibratory-urticaria |
Vibratory urticaria is a rare disorder; its prevalence is unknown. It |
html:p |
Vibratory urticaria is a condition in which exposing the skin to vibration, |
ad |
autosomal dominant |
ADGRE2 |
https://ghr.nlm.nih.gov/gene/ADGRE2 |
DDU |
db |
key |
2016-07 |
2017-12-29 |
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振動性蕁麻疹 |
belongs to a class of disorders called physical urticarias in which allergy |
repetitive stretching, or friction results in allergy symptoms such as hives |
dermodistortive urticaria |
GTR |
C0473546 |
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symptoms are brought on by direct exposure to factors such as pressure, heat, |
(urticaria), swelling (angioedema), redness (erythema), and itching (pruritus) |
VBU |
db |
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cold, or sunlight. Physical urticarias have been estimated to occur in up to 5 |
in the affected area. The reaction can be brought on by towel drying, hand |
vibratory angioedema |
GTR |
C1852146 |
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per 1,000 people. |
clapping, running, a bumpy ride in a vehicle, or other repetitive stimulation. |
db |
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Headaches, fatigue, faintness, blurry vision, a metallic taste in the mouth, |
ICD-10-CM |
L50.4 |
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facial flushing, and more widespread swelling (especially of the face) can also |
db |
key |
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occur during these episodes, especially if the stimulation is extreme or |
|
MeSH |
D000799 |
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prolonged. The reaction occurs within a few minutes of the stimulation and |
db |
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generally lasts up to an hour. Affected individuals can have several episodes |
MeSH |
D014581 |
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per day. |
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db |
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OMIM |
125630 |
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db |
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related-gene-list |
|
SNOMED CT |
51247001 |
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Vitamin D-dependent rickets |
https://ghr.nlm.nih.gov/condition/vitamin-d-dependent-rickets |
Rickets affects an estimated 1 in 200,000 children. The condition is most |
html:p |
Vitamin D-dependent rickets is a disorder of bone development that leads to |
ad |
autosomal dominant |
CYP2R1 |
https://ghr.nlm.nih.gov/gene/CYP2R1 |
VDDR |
db |
key |
2017-12 |
2017-12-29 |
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維生素D依賴性佝僂病第I型: |
often caused by a lack of vitamin D in the diet or insufficient sun exposure |
softening and weakening of the bones (rickets). There are several forms of the |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
1α-hydroxylase deficiency |
GTR |
C0268689 |
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1-α-Hydroxylase Deficiency |
rather than genetic mutations. Genetic forms of rickets, including vitamin |
condition that are distinguished primarily by their genetic causes: type 1A |
ar |
autosomal recessive |
CYP27B1 |
https://ghr.nlm.nih.gov/gene/CYP27B1 |
db |
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1α-羟化酶缺乏综合症 |
D-dependent rickets, are much less common. The prevalence of the different types |
(VDDR1A), type 1B (VDDR1B), and type 2A (VDDR2A). There is also evidence of a |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0268690 |
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1-α-水解酵素缺乏症 |
of vitamin D-dependent rickets is unknown. VDDR1A is more common in the French |
very rare form of the condition, called type 2B (VDDR2B), although not much is |
VDR |
https://ghr.nlm.nih.gov/gene/VDR |
db |
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(Bone) |
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Canadian population than in other populations. |
known about this form. |
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GTR |
C2748783 |
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html:p |
The signs and symptoms of vitamin D-dependent rickets begin within months after |
db |
key |
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birth, and most are the same for all types of the condition. The weak bones |
MeSH |
D012279 |
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often cause bone pain and delayed growth and have a tendency to fracture. When |
db |
key |
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affected children begin to walk, they may develop abnormally curved (bowed) legs |
OMIM |
264700 |
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because the bones are too weak to bear weight. Impaired bone development also |
db |
key |
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results in widening of the areas near the ends of bones where new bone forms |
OMIM |
277440 |
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(metaphyses), especially in the knees, wrists, and ribs. Some people with |
db |
key |
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vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel |
OMIM |
600081 |
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and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also |
db |
key |
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common in this condition, and some affected individuals develop seizures. |
OMIM |
600785 |
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html:p |
In vitamin D-dependent rickets, there is an imbalance of certain substances in |
db |
key |
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the blood. An early sign in all types of the condition is low levels of the |
|
Orphanet |
289157 |
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mineral calcium (hypocalcemia), which is essential for the normal formation of |
db |
key |
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bones and teeth. Affected individuals also develop high levels of a hormone |
Orphanet |
93160 |
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involved in regulating calcium levels called parathyroid hormone (PTH), which |
db |
key |
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leads to a condition called secondary hyperparathyroidism. Low levels of a |
SNOMED CT |
68295002 |
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mineral called phosphate (hypophosphatemia) also occur in affected individuals. |
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Vitamin D-dependent rickets types 1 and 2 can be grouped by blood levels of a |
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hormone called calcitriol, which is the active form of vitamin D; individuals |
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with VDDR1A and VDDR1B have abnormally low levels of calcitriol and individuals |
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with VDDR2A and VDDR2B have abnormally high levels. |
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html:p |
Hair loss (alopecia) can occur in VDDR2A, although not everyone with this form |
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of the condition has alopecia. Affected individuals can have sparse or patchy |
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hair or no hair at all on their heads. Some affected individuals are missing |
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body hair as well. |
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VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B;VDDR1B |
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維生素D缺乏型侏儒症第一型乙型 |
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related-gene-list |
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Vitelliform macular dystrophy |
https://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy |
Vitelliform macular dystrophy is a rare disorder; its incidence is unknown. |
html:p |
Vitelliform macular dystrophy is a genetic eye disorder that can cause |
ad |
autosomal dominant |
BEST1 |
https://ghr.nlm.nih.gov/gene/BEST1 |
vitelliform dystrophy |
db |
key |
2013-12 |
2017-12-29 |
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Best disease Vitelliform Macular Dystrophy |
progressive vision loss. This disorder affects the retina, the specialized |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0339510 |
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貝斯特氏症卵黃狀黃斑營養不良 |
light-sensitive tissue that lines the back of the eye. Specifically, |
PRPH2 |
https://ghr.nlm.nih.gov/gene/PRPH2 |
db |
key |
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(Vision) |
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vitelliform macular dystrophy disrupts cells in a small area near the center of |
GTR |
C1842914 |
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the retina called the macula. The macula is responsible for sharp central |
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key |
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vision, which is needed for detailed tasks such as reading, driving, and |
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GTR |
CN230163 |
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recognizing faces. |
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db |
key |
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html:p |
Vitelliform macular dystrophy causes a fatty yellow pigment (lipofuscin) to |
GeneReviews |
bvd |
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build up in cells underlying the macula. Over time, the abnormal accumulation of |
db |
key |
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this substance can damage cells that are critical for clear central vision. As |
MeSH |
D057826 |
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a result, people with this disorder often lose their central vision, and their |
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key |
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eyesight may become blurry or distorted. Vitelliform macular dystrophy |
|
OMIM |
153700 |
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typically does not affect side (peripheral) vision or the ability to see at |
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db |
key |
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night. |
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OMIM |
608161 |
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html:p |
Researchers have described two forms of vitelliform macular dystrophy with |
db |
key |
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similar features. The early-onset form (known as Best disease) usually appears |
Orphanet |
1243 |
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in childhood; the onset of symptoms and the severity of vision loss vary widely. |
db |
key |
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The adult-onset form begins later, usually in mid-adulthood, and tends to |
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SNOMED CT |
90036004 |
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cause vision loss that worsens slowly over time. The two forms of vitelliform |
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macular dystrophy each have characteristic changes in the macula that can be |
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detected during an eye examination. |
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related-gene-list |
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Vitiligo |
https://ghr.nlm.nih.gov/condition/vitiligo |
Vitiligo is a common disorder, affecting between 0.5 percent and 1 percent |
html:p |
Vitiligo is a condition that causes patchy loss of skin coloring (pigmentation). |
u |
pattern unknown |
NLRP1 |
https://ghr.nlm.nih.gov/gene/NLRP1 |
VTLG |
db |
key |
2015-01 |
2017-12-29 |
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白癜風 |
|
of the population worldwide. While the condition may be more noticeable in |
The average age of onset of vitiligo is in the mid-twenties, but it can appear |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0042900 |
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白斑 |
|
dark-skinned people, it occurs with similar frequency in all ethnic groups. |
at any age. It tends to progress over time, with larger areas of the skin losing |
PTPN22 |
https://ghr.nlm.nih.gov/gene/PTPN22 |
db |
key |
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pigment. Some people with vitiligo also have patches of pigment loss affecting |
ICD-10-CM |
H02.73 |
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the hair on their scalp or body. |
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key |
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html:p |
Researchers have identified several forms of vitiligo. Generalized vitiligo |
|
ICD-10-CM |
H02.731 |
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(also called nonsegmental vitiligo), which is the most common form, involves |
db |
key |
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loss of pigment (depigmentation) in patches of skin all over the body. |
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ICD-10-CM |
H02.732 |
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Depigmentation typically occurs on the face, neck, and scalp, and around body |
db |
key |
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openings such as the mouth and genitals. Sometimes pigment is lost in mucous |
ICD-10-CM |
H02.733 |
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membranes, such as the lips. Loss of pigmentation is also frequently seen in |
db |
key |
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areas that tend to experience rubbing, impact, or other trauma, such as the |
ICD-10-CM |
H02.734 |
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hands, arms, and places where bones are close to the skin surface (bony |
db |
key |
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prominences). Another form called segmental vitiligo is associated with smaller |
ICD-10-CM |
H02.735 |
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patches of depigmented skin that appear on one side of the body in a limited |
db |
key |
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area; this occurs in about 10 percent of affected individuals. |
|
ICD-10-CM |
H02.736 |
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html:p |
Vitiligo is generally considered to be an autoimmune disorder. Autoimmune |
db |
key |
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disorders occur when the immune system attacks the body's own tissues and |
ICD-10-CM |
H02.739 |
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organs. In people with vitiligo the immune system appears to attack the pigment |
db |
key |
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cells (melanocytes) in the skin. About 15 to 25 percent of people with vitiligo |
ICD-10-CM |
L80 |
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are also affected by at least one other autoimmune disorder, particularly |
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db |
key |
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autoimmune thyroid disease, rheumatoid arthritis, type 1 diabetes, psoriasis, |
MeSH |
D014820 |
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pernicious anemia, Addison disease, or systemic lupus erythematosus. |
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html:p |
In the absence of other autoimmune conditions, vitiligo does not affect general |
OMIM |
193200 |
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health or physical functioning. However, concerns about appearance and ethnic |
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identity are significant issues for many affected individuals. |
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Orphanet |
3435 |
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inheritance-pattern-list |
related-gene-list |
SNOMED CT |
56727007 |
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VLDLR-associated cerebellar hypoplasia |
https://ghr.nlm.nih.gov/condition/vldlr-associated-cerebellar-hypoplasia |
VLDLR-associated cerebellar hypoplasia is rare; its prevalence is unknown. |
html:p |
html:i |
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ar |
autosomal recessive |
ghr-page |
autosomal recessive cerebellar ataxia with mental retardation |
db-key |
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2009-10 |
2017-12-29 |
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The condition was first described in the Hutterite population in Canada and the |
VLDLR |
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https://ghr.nlm.nih.gov/gene/VLDLR |
autosomal recessive cerebellar hypoplasia with cerebral gyral simplification |
GTR |
C0394006 |
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United States. This condition has also been reported in families from Iran and |
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cerebellar disorder, nonprogressive, with mental retardation |
db-key |
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Turkey. |
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cerebellar hypoplasia and mental retardation with or without quadrupedal |
GeneReviews |
ataxias |
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locomotion |
db-key |
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-associated cerebellar hypoplasia may learn to walk later in childhood, usually |
cerebellar hypoplasia, VLDLR-associated |
GeneReviews |
vldlr-ch |
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after the age of 6, although some are never able to walk independently. In one |
CHMRQ1 |
db-key |
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Turkish family, affected people walk on their hands and feet (quadrupedal |
DES-VLDLR |
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MeSH |
D002524 |
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locomotion). |
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dysequilibrium syndrome-VLDLR |
db-key |
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html:p |
html:i |
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VLDLR-CH |
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OMIM |
224050 |
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VLDLR |
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VLDLRCH |
db-key |
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Orphanet |
1398 |
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-associated cerebellar hypoplasia does not significantly affect a person's life |
db-key |
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expectancy. |
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SNOMED CT |
230782004 |
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related-gene-list |
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Vohwinkel syndrome |
https://ghr.nlm.nih.gov/condition/vohwinkel-syndrome |
Vohwinkel syndrome is a rare disorder; about 50 cases have been reported in |
html:p |
Vohwinkel syndrome is a disorder with classic and variant forms, both of which |
ad |
autosomal dominant |
GJB2 |
https://ghr.nlm.nih.gov/gene/GJB2 |
congenital deafness with keratopachydermia and constrictions of fingers and toes |
db |
key |
2012-11 |
2017-12-29 |
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Vohwinkel綜合徵 |
the medical literature. |
affect the skin. |
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related-gene |
gene-symbol |
ghr-page |
keratoderma hereditarium mutilans |
GTR |
C0265964 |
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html:p |
In the classic form of Vohwinkel syndrome, affected individuals have thick, |
LOR |
https://ghr.nlm.nih.gov/gene/LOR |
KHM |
db |
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honeycomb-like calluses on the palms of the hands and soles of the feet |
mutilating keratoderma |
GTR |
C1858805 |
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(palmoplantar keratoses) beginning in infancy or early childhood. Affected |
palmoplantar keratoderma mutilans |
db |
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children also typically have distinctive starfish-shaped patches of thickened |
palmoplantar keratoderma mutilans Vohwinkel |
MeSH |
D007645 |
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skin on the tops of the fingers and toes or on the knees. Within a few years |
PPK mutilans Vohwinkel |
db |
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they develop tight bands of abnormal fibrous tissue around their fingers and |
OMIM |
124500 |
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toes (pseudoainhum); the bands may cut off the circulation to the digits and |
db |
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result in spontaneous amputation. People with the classic form of the disorder |
OMIM |
604117 |
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also have hearing loss. |
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html:p |
The variant form of Vohwinkel syndrome does not involve hearing loss, and the |
SNOMED CT |
24559001 |
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skin features also include widespread dry, scaly skin (ichthyosis), especially |
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on the limbs. The ichthyosis is usually mild, and there may also be mild |
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reddening of the skin (erythroderma). Some affected infants are born with a |
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tight, clear sheath covering their skin called a collodion membrane. This |
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membrane is usually shed during the first few weeks of life. |
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related-gene-list |
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Von Hippel-Lindau syndrome |
https://ghr.nlm.nih.gov/condition/von-hippel-lindau-syndrome |
The incidence of von Hippel-Lindau syndrome is estimated to be 1 in 36,000 |
html:p |
Von Hippel-Lindau syndrome is an inherited disorder characterized by the |
ad |
autosomal dominant |
VHL |
https://ghr.nlm.nih.gov/gene/VHL |
angiomatosis retinae |
db |
key |
2012-07 |
2017-12-29 |
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Von Hippel-Lindau 综合征 |
individuals. |
formation of tumors and fluid-filled sacs (cysts) in many different parts of the |
cerebelloretinal angiomatosis, familial |
GTR |
C0019562 |
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逢希伯-林道症候群 |
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body. Tumors may be either noncancerous or cancerous and most frequently appear |
Hippel-Lindau disease |
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視網膜小腦脊髓血管瘤症 |
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during young adulthood; however, the signs and symptoms of von Hippel-Lindau |
VHL syndrome |
GeneReviews |
vhl |
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syndrome can occur throughout life. |
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von Hippel-Lindau disease |
db |
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html:p |
Tumors called hemangioblastomas are characteristic of von Hippel-Lindau |
ICD-10-CM |
Q85.8 |
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syndrome. These growths are made of newly formed blood vessels. Although they |
db |
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are typically noncancerous, they can cause serious or life-threatening |
MeSH |
D006623 |
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complications. Hemangioblastomas that develop in the brain and spinal cord can |
db |
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cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). |
OMIM |
193300 |
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Hemangioblastomas can also occur in the light-sensitive tissue that lines the |
db |
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back of the eye (the retina). These tumors, which are also called retinal |
Orphanet |
892 |
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angiomas, may cause vision loss. |
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db |
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html:p |
People with von Hippel-Lindau syndrome commonly develop cysts in the kidneys, |
SNOMED CT |
46659004 |
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pancreas, and genital tract. They are also at an increased risk of developing a |
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type of kidney cancer called clear cell renal cell carcinoma and a type of |
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pancreatic cancer called a pancreatic neuroendocrine tumor. |
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Von Hippel-Lindau syndrome is associated with a type of tumor called a |
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pheochromocytoma, which most commonly occurs in the adrenal glands (small |
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hormone-producing glands located on top of each kidney). Pheochromocytomas are |
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usually noncancerous. They may cause no symptoms, but in some cases they are |
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associated with headaches, panic attacks, excess sweating, or dangerously high |
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blood pressure that may not respond to medication. Pheochromocytomas are |
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particularly dangerous if they develop during pregnancy. |
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html:p |
About 10 percent of people with von Hippel-Lindau syndrome develop endolymphatic |
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sac tumors, which are noncancerous tumors in the inner ear. These growths can |
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cause hearing loss in one or both ears, as well as ringing in the ears |
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(tinnitus) and problems with balance. Without treatment, these tumors can cause |
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sudden profound deafness. |
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related-gene-list |
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Von Willebrand disease |
https://ghr.nlm.nih.gov/condition/von-willebrand-disease |
Von Willebrand disease is estimated to affect 1 in 100 to 10,000 |
html:p |
Von Willebrand disease is a bleeding disorder that slows the blood clotting |
ad |
autosomal dominant |
VWF |
https://ghr.nlm.nih.gov/gene/VWF |
angiohemophilia |
db |
key |
2012-12 |
2017-12-29 |
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(Blood) |
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individuals. Because people with mild signs and symptoms may not come to medical |
process, causing prolonged bleeding after an injury. People with this condition |
code |
memo |
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vascular pseudohemophilia |
GTR |
C0042974 |
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類血友病 |
|
attention, it is thought that this condition is underdiagnosed. Most |
often experience easy bruising, long-lasting nosebleeds, and excessive bleeding |
ar |
autosomal recessive |
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von Willebrand disorder |
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溫韋伯氏疾病 |
researchers agree that von Willebrand disease is the most common genetic |
or oozing following an injury, surgery, or dental work. Mild forms of von |
von Willebrand's factor deficiency |
GeneReviews |
von-willebrand |
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bleeding disorder. |
Willebrand disease may become apparent only when abnormal bleeding occurs |
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following surgery or a serious injury. Women with this condition typically have |
ICD-10-CM |
D68.0 |
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heavy or prolonged bleeding during menstruation (menorrhagia), and some may also |
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experience reproductive tract bleeding during pregnancy and childbirth. In |
MeSH |
D014842 |
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severe cases of von Willebrand disease, heavy bleeding occurs after minor trauma |
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or even in the absence of injury (spontaneous bleeding). Symptoms of von |
Orphanet |
903 |
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Willebrand disease may change over time. Increased age, pregnancy, exercise, and |
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stress may cause bleeding symptoms to become less frequent. |
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SNOMED CT |
12501008 |
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html:p |
Von Willebrand disease is divided into three types, with type 2 being further |
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divided into four subtypes. Type 1 is the mildest and most common of the three |
SNOMED CT |
128105004 |
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types, accounting for 75 percent of affected individuals. Type 3 is the most |
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severe and rarest form of the condition. The four subtypes of type 2 von |
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SNOMED CT |
128106003 |
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Willebrand disease are intermediate in severity. Another form of the disorder, |
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acquired von Willebrand syndrome, is not caused by inherited gene mutations. |
SNOMED CT |
128107007 |
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Acquired von Willebrand syndrome is typically seen along with other disorders, |
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such as diseases that affect bone marrow or immune cell function. This rare form |
SNOMED CT |
128108002 |
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of the condition is characterized by abnormal bleeding into the skin and other |
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soft tissues, usually beginning in adulthood. |
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SNOMED CT |
128113003 |
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SNOMED CT |
128114009 |
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SNOMED CT |
1908008 |
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SNOMED CT |
19520006 |
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SNOMED CT |
234446004 |
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SNOMED CT |
234447008 |
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SNOMED CT |
234448003 |
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SNOMED CT |
234450006 |
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SNOMED CT |
24663001 |
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SNOMED CT |
35066007 |
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SNOMED CT |
359700009 |
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SNOMED CT |
359704000 |
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SNOMED CT |
359709005 |
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db |
key |
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SNOMED CT |
359711001 |
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db |
key |
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SNOMED CT |
359714009 |
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db |
key |
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SNOMED CT |
359717002 |
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db |
key |
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SNOMED CT |
359721009 |
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db |
key |
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SNOMED CT |
359725000 |
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db |
key |
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SNOMED CT |
359729006 |
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db |
key |
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SNOMED CT |
359732009 |
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db |
key |
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SNOMED CT |
52137009 |
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db |
key |
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SNOMED CT |
71723006 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
87397002 |
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Waardenburg syndrome |
https://ghr.nlm.nih.gov/condition/waardenburg-syndrome |
Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts |
html:p |
Waardenburg syndrome is a group of genetic conditions that can cause hearing |
ad |
autosomal dominant |
EDN3 |
https://ghr.nlm.nih.gov/gene/EDN3 |
Waardenburg's syndrome |
db |
key |
2016-08 |
2017-12-29 |
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蓝色眼珠 |
|
for 2 to 5 percent of all cases of congenital hearing loss. Types I and II are |
loss and changes in coloring (pigmentation) of the hair, skin, and eyes. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C0342680 |
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瓦氏综合征,蓝眼睛 |
the most common forms of Waardenburg syndrome, while types III and IV are rare. |
Although most people with Waardenburg syndrome have normal hearing, moderate to |
EDNRB |
https://ghr.nlm.nih.gov/gene/EDNRB |
db |
key |
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瓦登伯格综合症 |
|
|
profound hearing loss can occur in one or both ears. The hearing loss is present |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1837203 |
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瓦登伯革氏症候群 |
|
from birth (congenital). People with this condition often have very pale blue |
MITF |
https://ghr.nlm.nih.gov/gene/MITF |
db |
key |
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eyes or different colored eyes, such as one blue eye and one brown eye. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1838447 |
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Sometimes one eye has segments of two different colors. Distinctive hair |
PAX3 |
https://ghr.nlm.nih.gov/gene/PAX3 |
db |
key |
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coloring (such as a patch of white hair or hair that prematurely turns gray) is |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1847722 |
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another common sign of the condition. The features of Waardenburg syndrome vary |
SNAI2 |
https://ghr.nlm.nih.gov/gene/SNAI2 |
db |
key |
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among affected individuals, even among people in the same family. |
related-gene |
gene-symbol |
ghr-page |
|
GTR |
C1847800 |
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|
html:p |
There are four recognized types of Waardenburg syndrome, which are distinguished |
SOX10 |
https://ghr.nlm.nih.gov/gene/SOX10 |
db |
key |
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by their physical characteristics and sometimes by their genetic cause. Types I |
GTR |
C1848519 |
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and II have very similar features, although people with type I almost always |
db |
key |
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have eyes that appear widely spaced and people with type II do not. In addition, |
GTR |
C1860339 |
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hearing loss occurs more often in people with type II than in those with type |
db |
key |
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I. Type III (sometimes called Klein-Waardenburg syndrome) includes abnormalities |
GTR |
C2700405 |
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of the arms and hands in addition to hearing loss and changes in pigmentation. |
db |
key |
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Type IV (also known as Waardenburg-Shah syndrome) has signs and symptoms of both |
GTR |
C2750452 |
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Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that |
db |
key |
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causes severe constipation or blockage of the intestine. |
|
|
GTR |
C2750457 |
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db |
key |
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GeneReviews |
ws1 |
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db |
key |
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MeSH |
D014849 |
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db |
key |
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|
OMIM |
148820 |
|
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db |
key |
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|
OMIM |
193500 |
|
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db |
key |
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|
OMIM |
193510 |
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db |
key |
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|
|
OMIM |
277580 |
|
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db |
key |
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|
OMIM |
600193 |
|
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db |
key |
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|
OMIM |
606662 |
|
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db |
key |
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|
OMIM |
608890 |
|
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db |
key |
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|
OMIM |
611584 |
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db |
key |
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|
OMIM |
613265 |
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db |
key |
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|
OMIM |
613266 |
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db |
key |
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Orphanet |
894 |
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db |
key |
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Orphanet |
895 |
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db |
key |
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Orphanet |
896 |
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db |
key |
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Orphanet |
897 |
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db |
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Orphanet |
3440 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
47434006 |
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Wagner syndrome |
https://ghr.nlm.nih.gov/condition/wagner-syndrome |
Wagner syndrome is a rare disorder, although its exact prevalence is |
html:p |
Wagner syndrome is a hereditary disorder that causes progressive vision loss. |
ad |
autosomal dominant |
VCAN |
https://ghr.nlm.nih.gov/gene/VCAN |
hyaloideoretinal degeneration of Wagner |
db |
key |
2014-07 |
2017-12-29 |
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(Vision) |
|
unknown. Approximately 300 affected individuals have been described worldwide; |
The eye problems that lead to vision loss typically begin in childhood, although |
VCAN-related vitreoretinopathy |
GTR |
C0339540 |
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about half of these individuals are from the Netherlands. |
the vision impairment might not be immediately apparent. |
Wagner disease |
db |
key |
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html:p |
In people with Wagner syndrome, the light-sensitive tissue that lines the back |
Wagner vitreoretinal degeneration |
GeneReviews |
wagner |
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of the eye (the retina) becomes thin and may separate from the back of the eye |
Wagner vitreoretinopathy |
db |
key |
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(retinal detachment). The blood vessels within the retina (known as the choroid) |
MeSH |
D012162 |
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may also be abnormal. The retina and the choroid progressively break down |
db |
key |
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(degenerate). Some people with Wagner syndrome have blurred vision because of |
OMIM |
143200 |
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ectopic fovea, an abnormality in which the part of the retina responsible for |
db |
key |
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sharp central vision is out of place. Additionally, the thick, clear gel that |
|
Orphanet |
898 |
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fills the eyeball (the vitreous) becomes watery and thin. People with Wagner |
db |
key |
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syndrome develop a clouding of the lens of the eye (cataract). Affected |
SNOMED CT |
232064001 |
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individuals may also experience nearsightedness (myopia), progressive night |
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blindness, or a narrowing of their field of vision. |
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html:p |
Vision impairment in people with Wagner syndrome can vary from near normal |
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vision to complete loss of vision in both eyes. |
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related-gene-list |
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WAGR syndrome |
https://ghr.nlm.nih.gov/condition/wagr-syndrome |
The prevalence of WAGR syndrome ranges from 1 in 500,000 to one million |
html:p |
WAGR syndrome is a disorder that affects many body systems and is named for its |
n |
not inherited |
BDNF |
https://ghr.nlm.nih.gov/gene/BDNF |
11p deletion syndrome |
db |
key |
2014-12 |
2017-12-29 |
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WAGR 症候群 |
individuals. It is estimated that one-third of people with aniridia actually |
main features: Wilms tumor, anirida, genitourinary anomalies, and intellectual |
related-gene |
gene-symbol |
ghr-page |
11p partial monosomy syndrome |
GTR |
C0206115 |
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have WAGR syndrome. Approximately 7 in 1,000 cases of Wilms tumor can be |
disability (formerly referred to as mental retardation). |
PAX6 |
https://ghr.nlm.nih.gov/gene/PAX6 |
WAGR complex |
db |
key |
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attributed to WAGR syndrome. |
html:p |
People with WAGR syndrome have a 45 to 60 percent chance of developing Wilms |
related-gene |
gene-symbol |
ghr-page |
WAGR contiguous gene syndrome |
GTR |
C2675904 |
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tumor, a rare form of kidney cancer. This type of cancer is most often diagnosed |
WT1 |
https://ghr.nlm.nih.gov/gene/WT1 |
Wilms tumor-aniridia-genital anomalies-retardation syndrome |
db |
key |
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in children but is sometimes seen in adults. |
related-chromosome |
name |
ghr-page |
Wilms tumor-aniridia-genitourinary anomalies-MR syndrome |
GeneReviews |
aniridia |
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html:p |
Most people with WAGR syndrome have aniridia, an absence of the colored part of |
11 |
https://ghr.nlm.nih.gov/chromosome/11 |
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome |
db |
key |
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the eye (the iris). This can cause reduction in the sharpness of vision (visual |
GeneReviews |
wilms-ov |
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acuity) and increased sensitivity to light (photophobia). Aniridia is typically |
db |
key |
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the first noticeable sign of WAGR syndrome. Other eye problems may also develop, |
MeSH |
D017624 |
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such as clouding of the lens of the eyes (cataracts), increased pressure in the |
db |
key |
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eyes (glaucoma), and involuntary eye movements (nystagmus). |
|
OMIM |
194072 |
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html:p |
Abnormalities of the genitalia and urinary tract (genitourinary anomalies) are |
db |
key |
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seen more frequently in males with WAGR syndrome than in affected females. The |
OMIM |
612469 |
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most common genitourinary anomaly in affected males is undescended testes |
db |
key |
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(cryptorchidism). Females may not have functional ovaries and instead have |
Orphanet |
893 |
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undeveloped clumps of tissue called streak gonads. Females may also have a |
db |
key |
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heart-shaped (bicornate) uterus, which makes it difficult to carry a pregnancy |
SNOMED CT |
4135001 |
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to term. |
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html:p |
Another common feature of WAGR syndrome is intellectual disability. Affected |
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individuals often have difficulty processing, learning, and properly responding |
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to information. Some individuals with WAGR syndrome also have psychiatric or |
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behavioral problems including depression, anxiety, attention deficit |
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hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), or a |
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developmental disorder called autism that affects communication and social |
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interaction. |
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html:p |
Other signs and symptoms of WAGR syndrome can include childhood-onset obesity, |
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inflammation of the pancreas (pancreatitis), and kidney failure. When WAGR |
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syndrome includes childhood-onset obesity, it is often referred to as WAGRO |
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syndrome. |
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related-gene-list |
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Waldenström macroglobulinemia |
https://ghr.nlm.nih.gov/condition/waldenstrom-macroglobulinemia |
Waldenström macroglobulinemia affects an estimated 3 per million people |
html:p |
Waldenström macroglobulinemia is a rare blood cell cancer characterized by an |
n |
not inherited |
CXCR4 |
https://ghr.nlm.nih.gov/gene/CXCR4 |
macroglobulinemia of Waldenstrom |
db |
key |
2015-03 |
2017-12-29 |
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華氏巨球蛋白血症 |
each year in the United States. Approximately 1,500 new cases of the condition |
excess of abnormal white blood cells called lymphoplasmacytic cells in the bone |
related-gene |
gene-symbol |
ghr-page |
Waldenstrom macroglobulinemia |
GTR |
C1835192 |
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(Cancer) |
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are diagnosed each year in this country, and whites are more commonly affected |
marrow. This condition is classified as a lymphoplasmacytic lymphoma. The |
MYD88 |
https://ghr.nlm.nih.gov/gene/MYD88 |
Waldenstrom's macroglobulinemia |
db |
key |
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than African Americans. For unknown reasons, the condition occurs twice as often |
abnormal cells have characteristics of both white blood cells (lymphocytes) |
WM |
ICD-10-CM |
C88.0 |
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in men than women. |
called B cells and of more mature cells derived from B cells known as plasma |
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cells. These abnormal cells produce excess amounts of IgM, a type of protein |
MeSH |
D008258 |
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known as an immunoglobulin; the overproduction of this large protein is how the |
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condition got its name ("macroglobulinemia"). |
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OMIM |
153600 |
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html:p |
Waldenström macroglobulinemia usually begins in a person's sixties and is a |
db |
key |
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slow-growing (indolent) cancer. Some affected individuals have elevated levels |
Orphanet |
33226 |
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of IgM and lymphoplasmacytic cells but no symptoms of the condition; in these |
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cases, the disease is usually found incidentally by a blood test taken for |
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SNOMED CT |
190818004 |
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another reason. These individuals are diagnosed with smoldering (or |
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asymptomatic) Waldenström macroglobulinemia. It can be several years before this |
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form of the condition progresses to the symptomatic form. |
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html:p |
Individuals with symptomatic Waldenström macroglobulinemia can experience |
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general symptoms such as fever, night sweats, and weight loss. Several other |
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signs and symptoms of the condition are related to the excess IgM, which can |
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thicken blood and impair circulation, causing a condition known as |
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hyperviscosity syndrome. Features related to hyperviscosity syndrome include |
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bleeding in the nose or mouth, blurring or loss of vision, headache, dizziness, |
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and difficulty coordinating movements (ataxia). In some affected individuals, |
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the IgM proteins clump together in the hands and feet, where the body |
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temperature is cooler than at the center of the body. These proteins are then |
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referred to as cryoglobulins, and their clumping causes a condition known as |
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cryoglobulinemia. Cryoglobulinemia can lead to pain in the hands and feet or |
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episodes of Raynaud phenomenon, in which the fingers and toes turn white or blue |
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in response to cold temperatures. The IgM protein can also build up in organs |
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such as the heart and kidneys, causing a condition called amyloidosis, which can |
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lead to heart and kidney problems. Some people with Waldenström |
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macroglobulinemia develop a loss of sensation and weakness in the limbs |
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(peripheral neuropathy). Doctors are unsure why this feature occurs, although |
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they speculate that the IgM protein attaches to the protective covering of nerve |
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cells (myelin) and breaks it down. The damaged nerves cannot carry signals |
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normally, leading to neuropathy. |
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html:p |
Other features of Waldenström macroglobulinemia are due to the accumulation of |
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lymphoplasmacytic cells in different tissues. For example, accumulation of these |
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cells can lead to an enlarged liver (hepatomegaly), spleen (splenomegaly), or |
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lymph nodes (lymphadenopathy). In the bone marrow, the lymphoplasmacytic cells |
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interfere with normal blood cell development, causing a shortage of normal blood |
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cells (pancytopenia). Excessive tiredness (fatigue) due to a reduction in red |
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blood cells (anemia) is common in affected individuals. |
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html:p |
People with Waldenström macroglobulinemia have an increased risk of developing |
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other cancers of the blood or other tissues. |
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related-gene-list |
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Walker-Warburg syndrome |
https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome |
Walker-Warburg syndrome is estimated to affect 1 in 60,500 newborns |
html:p |
Walker-Warburg syndrome is an inherited disorder that affects development of the |
ar |
autosomal recessive |
B3GALNT2 |
https://ghr.nlm.nih.gov/gene/B3GALNT2 |
cerebroocular dysplasia-muscular dystrophy syndrome |
db |
key |
2017-01 |
2017-12-29 |
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Walker-Warburg綜合症 |
worldwide. |
muscles, brain, and eyes. It is the most severe of a group of genetic |
related-gene |
gene-symbol |
ghr-page |
Chemke syndrome |
GTR |
C0265221 |
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conditions known as congenital muscular dystrophies, which cause muscle weakness |
B4GAT1 |
https://ghr.nlm.nih.gov/gene/B4GAT1 |
COD-MD syndrome |
db |
key |
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and wasting (atrophy) beginning very early in life. The signs and symptoms of |
related-gene |
gene-symbol |
ghr-page |
HARD syndrome |
GeneReviews |
cmd-overview |
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Walker-Warburg syndrome are present at birth or in early infancy. Because of the |
DAG1 |
https://ghr.nlm.nih.gov/gene/DAG1 |
hydrocephalus, agyria, and retinal dysplasia |
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key |
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severity of the problems caused by Walker-Warburg syndrome, most affected |
related-gene |
gene-symbol |
ghr-page |
MDDGA |
MeSH |
D058494 |
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individuals do not survive past age 3. |
FKRP |
https://ghr.nlm.nih.gov/gene/FKRP |
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), |
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Walker-Warburg syndrome affects the skeletal muscles, which are muscles the body |
related-gene |
gene-symbol |
ghr-page |
type A |
OMIM |
236670 |
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uses for movement. Affected babies have weak muscle tone (hypotonia) and are |
FKTN |
https://ghr.nlm.nih.gov/gene/FKTN |
muscular dystrophy-dystroglycanopathy [with brain and eye anomalies], type A |
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sometimes described as "floppy." The muscle weakness worsens over time. |
related-gene |
gene-symbol |
ghr-page |
Walker-Warburg congenital muscular dystrophy |
OMIM |
253800 |
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html:p |
Walker-Warburg syndrome also affects the brain; individuals with this condition |
ISPD |
https://ghr.nlm.nih.gov/gene/ISPD |
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typically have a brain abnormality called cobblestone lissencephaly, in which |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
613150 |
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the surface of the brain lacks the normal folds and grooves and instead develops |
LARGE1 |
https://ghr.nlm.nih.gov/gene/LARGE1 |
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a bumpy, irregular appearance (like that of cobblestones). These individuals |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
613153 |
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may also have a buildup of fluid in the brain (hydrocephalus) or abnormalities |
POMGNT1 |
https://ghr.nlm.nih.gov/gene/POMGNT1 |
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of certain parts of the brain, including a region called the cerebellum and the |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
613154 |
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part of the brain that connects to the spinal cord (the brainstem). These |
POMGNT2 |
https://ghr.nlm.nih.gov/gene/POMGNT2 |
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changes in the structure of the brain lead to significantly delayed development |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
614643 |
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and intellectual disability. Some individuals with Walker-Warburg syndrome |
POMK |
https://ghr.nlm.nih.gov/gene/POMK |
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experience seizures. |
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related-gene |
gene-symbol |
ghr-page |
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OMIM |
614830 |
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html:p |
Eye abnormalities are also characteristic of Walker-Warburg syndrome. These can |
POMT1 |
https://ghr.nlm.nih.gov/gene/POMT1 |
db |
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include unusually small eyeballs (microphthalmia), enlarged eyeballs caused by |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
615041 |
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increased pressure in the eyes (buphthalmos), clouding of the lenses of the eyes |
POMT2 |
https://ghr.nlm.nih.gov/gene/POMT2 |
db |
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(cataracts), and problems with the nerve that relays visual information from |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
615181 |
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the eyes to the brain (the optic nerve). These eye problems lead to vision |
RXYLT1 |
https://ghr.nlm.nih.gov/gene/RXYLT1 |
db |
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impairment in affected individuals. |
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OMIM |
615249 |
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OMIM |
615287 |
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OMIM |
616538 |
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Orphanet |
899 |
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db |
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related-gene-list |
|
SNOMED CT |
111504002 |
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Warfarin resistance |
https://ghr.nlm.nih.gov/condition/warfarin-resistance |
Warfarin resistance is thought to be a rare condition, although its |
html:p |
Warfarin resistance is a condition in which individuals have a high tolerance |
ad |
autosomal dominant |
ABCB1 |
https://ghr.nlm.nih.gov/gene/ABCB1 |
coumarin resistance |
db |
key |
2015-07 |
2017-12-29 |
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prevalence is unknown. |
for the drug warfarin. Warfarin is an anticoagulant, which means that it thins |
related-gene |
gene-symbol |
ghr-page |
poor metabolism of coumarin |
GTR |
CN078029 |
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the blood, preventing blood clots from forming. Warfarin is often prescribed to |
UGT1A1 |
https://ghr.nlm.nih.gov/gene/UGT1A1 |
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prevent blood clots in people with heart valve disease who have replacement |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D004305 |
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heart valves, people with an irregular heart beat (atrial fibrillation), or |
VKORC1 |
https://ghr.nlm.nih.gov/gene/VKORC1 |
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those with a history of heart attack, stroke, or a prior blood clot in the deep |
OMIM |
122700 |
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veins of the arms or legs (deep vein thrombosis). |
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html:p |
There are two types of warfarin resistance: incomplete and complete. Those with |
SNOMED CT |
243873002 |
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incomplete warfarin resistance can achieve the benefits of warfarin treatment |
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with a high dose of warfarin. Individuals with complete warfarin resistance do |
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not respond to warfarin treatment, no matter how high the dose. If people with |
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warfarin resistance require treatment with warfarin and take the average dose, |
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they will remain at risk of developing a potentially harmful blood clot. |
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html:p |
Both types of warfarin resistance are related to how the body processes |
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warfarin. In some people with warfarin resistance, their blood clotting process |
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does not react effectively to the drug. Others with this resistance rapidly |
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break down (metabolize) warfarin, so the medication is quickly processed by |
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their bodies; these individuals are classified as "fast metabolizers" or "rapid |
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metabolizers" of warfarin. The severity of these abnormal processes determines |
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whether the warfarin resistance is complete or incomplete. |
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html:p |
Warfarin resistance does not appear to cause any health problems other than |
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those associated with warfarin drug treatment. |
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related-gene-list |
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Warfarin sensitivity |
https://ghr.nlm.nih.gov/condition/warfarin-sensitivity |
The prevalence of warfarin sensitivity is unknown. However, it appears to |
html:p |
Warfarin sensitivity is a condition in which individuals have a low tolerance |
ad |
autosomal dominant |
CYP2C9 |
https://ghr.nlm.nih.gov/gene/CYP2C9 |
coumadin sensitivity |
db |
key |
2015-06 |
2017-12-29 |
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be more common in people who are older, those with lower body weights, and |
for the drug warfarin. Warfarin is an anticoagulant, which means that it thins |
related-gene |
gene-symbol |
ghr-page |
warfarin response |
GTR |
CN078029 |
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individuals of Asian ancestry.Of the approximately 2 million people in the U.S. |
the blood, preventing blood clots from forming. Warfarin is often prescribed to |
CYP4F2 |
https://ghr.nlm.nih.gov/gene/CYP4F2 |
db |
key |
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who are prescribed warfarin annually, 35,000 to 45,000 individuals go to |
prevent blood clots in people with heart valve disease who have replacement |
related-gene |
gene-symbol |
ghr-page |
|
MeSH |
D004305 |
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hospital emergency rooms with warfarin-related adverse drug events. While it is |
heart valves, people with an irregular heart beat (atrial fibrillation), or |
F9 |
https://ghr.nlm.nih.gov/gene/F9 |
db |
key |
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unclear how many of these events are due to warfarin sensitivity, the most |
those with a history of heart attack, stroke, or a prior blood clot in the deep |
related-gene |
gene-symbol |
ghr-page |
|
OMIM |
122700 |
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common sign is excessive internal bleeding, which is often seen when individuals |
veins of the arms or legs (deep vein thrombosis). |
GGCX |
https://ghr.nlm.nih.gov/gene/GGCX |
db |
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with warfarin sensitivity are given too much of the medication. |
html:p |
Many people with warfarin sensitivity take longer than normal to break down |
related-gene |
gene-symbol |
ghr-page |
|
Orphanet |
240997 |
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(metabolize) warfarin, so the medication is in their body longer than usual and |
VKORC1 |
https://ghr.nlm.nih.gov/gene/VKORC1 |
db |
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they require lower doses. These individuals are classified as "slow |
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SNOMED CT |
243873002 |
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metabolizers" of warfarin. Other people with warfarin sensitivity do not need as |
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much drug to prevent clots because their clot forming process is already slower |
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than average and can be inhibited by low warfarin doses. If people with |
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warfarin sensitivity take the average dose (or more) of warfarin, they are at |
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risk of an overdose, which can cause abnormal bleeding in the brain, |
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gastrointestinal tract, or other tissues, and may lead to serious health |
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problems or death. |
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html:p |
Warfarin sensitivity does not appear to cause any health problems other than |
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those associated with warfarin drug treatment. |
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related-gene-list |
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Warsaw breakage syndrome |
https://ghr.nlm.nih.gov/condition/warsaw-breakage-syndrome |
Warsaw breakage syndrome is a rare condition; at least four cases have been |
html:p |
Warsaw breakage syndrome is a condition that can cause multiple abnormalities. |
ar |
autosomal recessive |
DDX11 |
https://ghr.nlm.nih.gov/gene/DDX11 |
WABS |
db |
key |
2014-02 |
2017-12-29 |
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described in the medical literature. |
People with Warsaw breakage syndrome have intellectual disability that varies |
GTR |
C3150658 |
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from mild to severe. They also have impaired growth from birth leading to short |
db |
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stature and a small head size (microcephaly). Affected individuals have |
|
MeSH |
D049914 |
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distinctive facial features that may include a small forehead, a short nose, a |
db |
key |
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small lower jaw, a flat area between the nose and mouth (philtrum), and |
|
OMIM |
613398 |
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prominent cheeks. Other common features include hearing loss caused by nerve |
db |
key |
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damage in the inner ear (sensorineural hearing loss) and heart malformations. |
Orphanet |
280558 |
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db |
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related-gene-list |
|
SNOMED CT |
702829000 |
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Weaver syndrome |
https://ghr.nlm.nih.gov/condition/weaver-syndrome |
The prevalence of Weaver syndrome is unknown. About 50 affected individuals |
html:p |
Weaver syndrome is a condition that involves tall stature with or without a |
ad |
autosomal dominant |
EZH2 |
https://ghr.nlm.nih.gov/gene/EZH2 |
camptodactyly-overgrowth-unusual facies |
db |
key |
2016-03 |
2017-12-29 |
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韋弗綜合症 |
have been described in the medical literature. |
large head size (macrocephaly), a variable degree of intellectual disability |
Weaver-Smith syndrome |
GTR |
C0265210 |
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(usually mild), and characteristic facial features. These features can include a |
WSS |
db |
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broad forehead; widely spaced eyes (hypertelorism); large, low-set ears; a |
MeSH |
D000015 |
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dimpled chin, and a small lower jaw (micrognathia). |
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html:p |
People with Weaver syndrome can also have joint deformities called contractures |
OMIM |
277590 |
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that restrict the movement of affected joints. The contractures may particularly |
db |
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affect the fingers and toes, resulting in permanently bent digits |
|
Orphanet |
3447 |
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(camptodactyly). Other features of this disorder can include abnormal curvature |
db |
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of the spine (kyphoscoliosis); muscle tone that is either reduced (hypotonia) or |
SNOMED CT |
63119004 |
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increased (hypertonia); loose, saggy skin; and a soft-outpouching around the |
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belly-button (umbilical hernia). Some affected individuals have abnormalities in |
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the folds (gyri) of the brain, which can be seen by medical imaging; the |
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relationship between these brain abnormalities and the intellectual disability |
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associated with Weaver syndrome is unclear. |
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html:p |
Researchers suggest that people with Weaver syndrome may have an increased risk |
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of developing cancer, in particular a slightly increased risk of developing a |
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tumor called neuroblastoma in early childhood, but the small number of affected |
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individuals makes it difficult to determine the exact risk. |
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related-gene-list |
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Weill-Marchesani syndrome |
https://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome |
Weill-Marchesani syndrome appears to be rare; it has an estimated |
html:p |
Weill-Marchesani syndrome is a disorder of connective tissue. Connective tissue |
ad |
autosomal dominant |
ADAMTS10 |
https://ghr.nlm.nih.gov/gene/ADAMTS10 |
brachydactyly-spherophakia syndrome |
db |
key |
2015-02 |
2017-12-29 |
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Weill-Marchesani綜合症 |
prevalence of 1 in 100,000 people. |
forms the body's supportive framework, providing structure and strength to the |
code |
memo |
related-gene |
gene-symbol |
ghr-page |
brachymorphy with spherophakia syndrome |
GTR |
C0265313 |
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muscles, joints, organs, and skin. |
ar |
autosomal recessive |
FBN1 |
https://ghr.nlm.nih.gov/gene/FBN1 |
congenital mesodermal dysmorphodystrophy |
db |
key |
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html:p |
The major signs and symptoms of Weill-Marchesani syndrome include short stature, |
Marchesani syndrome |
GTR |
C1869114 |
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eye abnormalities, unusually short fingers and toes (brachydactyly), and joint |
Marchesani-Weill Syndrome |
db |
key |
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stiffness. Adult height for men with Weill-Marchesani syndrome ranges from 4 |
spherophakia-brachymorphia syndrome |
GTR |
C1869115 |
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feet, 8 inches to 5 feet, 6 inches. Adult height for women with this condition |
WMS |
db |
key |
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ranges from 4 feet, 3 inches to 5 feet, 2 inches. |
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GTR |
C3553785 |
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html:p |
An eye abnormality called microspherophakia is characteristic of |
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db |
key |
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Weill-Marchesani syndrome. This term refers to a small, sphere-shaped lens, |
GeneReviews |
weill-ms |
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which is associated with nearsightedness (myopia) that worsens over time. The |
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lens also may be positioned abnormally within the eye (ectopia lentis). Many |
MeSH |
D056846 |
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people with Weill-Marchesani syndrome develop glaucoma, an eye disease that |
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increases the pressure in the eye and can lead to blindness. |
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OMIM |
277600 |
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html:p |
Occasionally, heart defects or an abnormal heart rhythm can occur in people with |
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Weill-Marchesani syndrome. |
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OMIM |
608328 |
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OMIM |
614819 |
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Orphanet |
3449 |
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related-gene-list |
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SNOMED CT |
2884008 |
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Weissenbacher-Zweymüller syndrome |
https://ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome |
Weissenbacher-Zweymüller syndrome is very rare; only a few affected |
html:p |
Weissenbacher-Zweymüller syndrome is a condition that affects bone growth. It is |
ad |
autosomal dominant |
COL11A2 |
https://ghr.nlm.nih.gov/gene/COL11A2 |
heterozygous OSMED |
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2016-05 |
2017-12-29 |
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Weissenbacher - Zweymuller综合症 |
families worldwide have been described in the medical literature. |
characterized by skeletal abnormalities, hearing loss, and distinctive facial |
heterozygous otospondylomegaepiphyseal dysplasia |
GTR |
C1848488 |
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features. The features of this condition significantly overlap those of two |
Pierre Robin syndrome with fetal chondrodysplasia |
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similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) and Stickler |
WZS |
MeSH |
D003095 |
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syndrome type III. All of these conditions are caused by mutations in the same |
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gene, and in some cases, it can be difficult to tell them apart. Some |
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OMIM |
184840 |
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researchers believe they represent a single disorder with a range of signs and |
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symptoms. |
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Orphanet |
3450 |
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html:p |
Infants born with Weissenbacher-Zweymüller syndrome are smaller than average |
db |
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because the bones in their arms and legs are unusually short. The thigh and |
SNOMED CT |
699313003 |
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upper arm bones are wider than usual at the ends (described as dumbbell-shaped), |
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and the bones of the spine (vertebrae) may also be abnormally shaped. |
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High-frequency hearing loss occurs in some cases. Distinctive facial features |
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include wide-set protruding eyes, a small and upturned nose with a flat bridge, |
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and a small lower jaw. Some affected infants are born with an opening in the |
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roof of the mouth (a cleft palate). |
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html:p |
Most people with Weissenbacher-Zweymüller syndrome experience significant |
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"catch-up" growth in the bones of the arms and legs during childhood. As a |
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result, adults with this condition are not unusually short. However, affected |
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adults still have other signs and symptoms of Weissenbacher-Zweymüller syndrome, |
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including distinctive facial features and hearing loss. |
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related-gene-list |
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Werner syndrome |
https://ghr.nlm.nih.gov/condition/werner-syndrome |
Werner syndrome is estimated to affect 1 in 200,000 individuals in the |
html:p |
Werner syndrome is characterized by the dramatic, rapid appearance of features |
ar |
autosomal recessive |
WRN |
https://ghr.nlm.nih.gov/gene/WRN |
Adult premature aging syndrome |
db |
key |
2012-12 |
2017-12-29 |
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成人型早老症 |
United States. This syndrome occurs more often in Japan, affecting 1 in 20,000 |
associated with normal aging. Individuals with this disorder typically grow and |
Adult Progeria |
GTR |
C0043119 |
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to 1 in 40,000 people. |
develop normally until they reach puberty. Affected teenagers usually do not |
Werner's Syndrome |
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have a growth spurt, resulting in short stature. The characteristic aged |
Werners Syndrome |
GeneReviews |
werner |
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appearance of individuals with Werner syndrome typically begins to develop when |
WS |
db |
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they are in their twenties and includes graying and loss of hair; a hoarse |
MeSH |
D014898 |
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voice; and thin, hardened skin. They may also have a facial appearance described |
db |
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as "bird-like." Many people with Werner syndrome have thin arms and legs and a |
OMIM |
277700 |
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thick trunk due to abnormal fat deposition. |
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db |
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html:p |
As Werner syndrome progresses, affected individuals may develop disorders of |
Orphanet |
902 |
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aging early in life, such as cloudy lenses (cataracts) in both eyes, skin |
db |
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ulcers, type 2 diabetes, diminished fertility, severe hardening of the arteries |
SNOMED CT |
51626007 |
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(atherosclerosis), thinning of the bones (osteoporosis), and some types of |
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cancer. It is not uncommon for affected individuals to develop multiple, rare |
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cancers during their lifetime. People with Werner syndrome usually live into |
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their late forties or early fifties. The most common causes of death are cancer |
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and atherosclerosis. |
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related-gene-list |
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Weyers acrofacial dysostosis |
https://ghr.nlm.nih.gov/condition/weyers-acrofacial-dysostosis |
Weyers acrofacial dysostosis appears to be a rare disorder. Only a few |
html:p |
Weyers acrofacial dysostosis is a disorder that affects the development of the |
ad |
autosomal dominant |
EVC |
https://ghr.nlm.nih.gov/gene/EVC |
acrodental dysostosis of Weyers |
db |
key |
2012-12 |
2017-12-29 |
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Weyers 肢面發育不全 |
affected families have been identified worldwide. |
teeth, nails, and bones. Dental abnormalities can include small, peg-shaped |
related-gene |
gene-symbol |
ghr-page |
Curry-Hall syndrome |
GTR |
C0457013 |
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teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two |
EVC2 |
https://ghr.nlm.nih.gov/gene/EVC2 |
Weyers acrodental dysostosis |
db |
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(a single central incisor). Additionally, the lower jaw (mandible) may be |
|
MeSH |
D004413 |
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abnormally shaped. People with Weyers acrofacial dysostosis have abnormally |
db |
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small or malformed fingernails and toenails. Most people with the condition are |
OMIM |
193530 |
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relatively short, and they may have extra fingers or toes (polydactyly). |
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html:p |
The features of Weyers acrofacial dysostosis overlap with those of another, more |
Orphanet |
952 |
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severe condition called Ellis-van Creveld syndrome. In addition to tooth and |
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nail abnormalities, people with Ellis-van Creveld syndrome have very short |
SNOMED CT |
277807007 |
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stature and are often born with heart defects. The two conditions are caused by |
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mutations in the same genes. |
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related-gene-list |
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White sponge nevus |
https://ghr.nlm.nih.gov/condition/white-sponge-nevus |
The exact prevalence of white sponge nevus is unknown, but it is estimated |
html:p |
White sponge nevus is a condition characterized by the formation of white |
ad |
autosomal dominant |
KRT4 |
https://ghr.nlm.nih.gov/gene/KRT4 |
Cannon's disease |
db |
key |
2014-02 |
2017-12-29 |
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白色海綿痣 |
to affect less than 1 in 200,000 individuals worldwide. |
patches of tissue called nevi (singular: nevus) that appear as thickened, |
related-gene |
gene-symbol |
ghr-page |
familial white folded mucosal dysplasia |
GTR |
C1721005 |
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velvety, sponge-like tissue. The nevi are most commonly found on the moist |
KRT13 |
https://ghr.nlm.nih.gov/gene/KRT13 |
hereditary leukokeratosis |
db |
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lining of the mouth (oral mucosa), especially on the inside of the cheeks |
hereditary mucosal leukokeratosis |
MeSH |
D053529 |
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(buccal mucosa). Affected individuals usually develop multiple nevi. Rarely, |
hereditary oral keratosis |
db |
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white sponge nevi also occur on the mucosae (singular: mucosa) of the nose, |
leukokeratosis of oral mucosa |
OMIM |
193900 |
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esophagus, genitals, or anus. The nevi are caused by a noncancerous (benign) |
leukokeratosis, hereditary mucosal |
db |
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overgrowth of cells. |
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nevus of Cannon |
OMIM |
615785 |
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html:p |
White sponge nevus can be present from birth but usually first appears during |
white folded gingivostomatosis |
db |
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early childhood. The size and location of the nevi can change over time. In the |
white gingivostomatitis |
Orphanet |
171723 |
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oral mucosa, both sides of the mouth are usually affected. The nevi are |
white sponge naevus |
db |
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generally painless, but the folds of extra tissue can promote bacterial growth, |
white sponge nevus of Cannon |
SNOMED CT |
389203001 |
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which can lead to infection that may cause discomfort. The altered texture and |
white sponge nevus of mucosa |
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appearance of the affected tissue, especially the oral mucosa, can be bothersome |
WSN |
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for some affected individuals. |
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White-Sutton Syndrome (WHSUS) |
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懷特-薩頓症候群 |
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related-gene-list |
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Williams syndrome |
https://ghr.nlm.nih.gov/condition/williams-syndrome |
Williams syndrome affects an estimated 1 in 7,500 to 10,000 people. |
html:p |
Williams syndrome is a developmental disorder that affects many parts of the |
ad |
autosomal dominant |
ABHD11 |
https://ghr.nlm.nih.gov/gene/ABHD11 |
Beuren syndrome |
db |
key |
2014-12 |
2017-12-29 |
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威廉氏症候群 |
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body. This condition is characterized by mild to moderate intellectual |
related-gene |
gene-symbol |
ghr-page |
elfin facies syndrome |
GTR |
C0175702 |
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Williams-Beuren syndrome |
disability or learning problems, unique personality characteristics, distinctive |
BAZ1B |
https://ghr.nlm.nih.gov/gene/BAZ1B |
elfin facies with hypercalcemia |
db |
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威廉氏症候群 |
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facial features, and heart and blood vessel (cardiovascular) problems. |
related-gene |
gene-symbol |
ghr-page |
hypercalcemia-supravalvar aortic stenosis |
GeneReviews |
williams |
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supravalvar aortic stenosis (SVAS) |
html:p |
People with Williams syndrome typically have difficulty with visual-spatial |
BCL7B |
https://ghr.nlm.nih.gov/gene/BCL7B |
infantile hypercalcemia |
db |
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高鈣血症主動脈上狹窄症候群 |
tasks such as drawing and assembling puzzles, but they tend to do well on tasks |
related-gene |
gene-symbol |
ghr-page |
supravalvar aortic stenosis syndrome |
MeSH |
D018980 |
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that involve spoken language, music, and learning by repetition (rote |
BUD23 |
https://ghr.nlm.nih.gov/gene/BUD23 |
WBS |
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memorization). Affected individuals have outgoing, engaging personalities and |
related-gene |
gene-symbol |
ghr-page |
Williams-Beuren syndrome |
OMIM |
194050 |
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tend to take an extreme interest in other people. Attention deficit disorder |
CLDN3 |
https://ghr.nlm.nih.gov/gene/CLDN3 |
WMS |
db |
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(ADD), problems with anxiety, and phobias are common among people with this |
related-gene |
gene-symbol |
ghr-page |
WS |
Orphanet |
904 |
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disorder. |
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CLDN4 |
https://ghr.nlm.nih.gov/gene/CLDN4 |
db |
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html:p |
Young children with Williams syndrome have distinctive facial features including |
related-gene |
gene-symbol |
ghr-page |
|
SNOMED CT |
63247009 |
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a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth |
CLIP2 |
https://ghr.nlm.nih.gov/gene/CLIP2 |
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with full lips. Many affected people have dental problems such as teeth that |
related-gene |
gene-symbol |
ghr-page |
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are small, widely spaced, crooked, or missing. In older children and adults, the |
DNAJC30 |
https://ghr.nlm.nih.gov/gene/DNAJC30 |
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face appears longer and more gaunt. |
related-gene |
gene-symbol |
ghr-page |
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html:p |
A form of cardiovascular disease called supravalvular aortic stenosis (SVAS) |
EIF4H |
https://ghr.nlm.nih.gov/gene/EIF4H |
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occurs frequently in people with Williams syndrome. Supravalvular aortic |
related-gene |
gene-symbol |
ghr-page |
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stenosis is a narrowing of the large blood vessel that carries blood from the |
ELN |
https://ghr.nlm.nih.gov/gene/ELN |
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heart to the rest of the body (the aorta). If this condition is not treated, |
related-gene |
gene-symbol |
ghr-page |
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the aortic narrowing can lead to shortness of breath, chest pain, and heart |
FKBP6 |
https://ghr.nlm.nih.gov/gene/FKBP6 |
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failure. Other problems with the heart and blood vessels, including high blood |
related-gene |
gene-symbol |
ghr-page |
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pressure (hypertension), have also been reported in people with Williams |
FZD9 |
https://ghr.nlm.nih.gov/gene/FZD9 |
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syndrome. |
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related-gene |
gene-symbol |
ghr-page |
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html:p |
Additional signs and symptoms of Williams syndrome include abnormalities of |
GTF2I |
https://ghr.nlm.nih.gov/gene/GTF2I |
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connective tissue (tissue that supports the body's joints and organs) such as |
related-gene |
gene-symbol |
ghr-page |
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joint problems and soft, loose skin. Affected people may also have increased |
GTF2IRD1 |
https://ghr.nlm.nih.gov/gene/GTF2IRD1 |
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calcium levels in the blood (hypercalcemia) in infancy, developmental delays, |
related-gene |
gene-symbol |
ghr-page |
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problems with coordination, and short stature. Medical problems involving the |
GTF2IRD2 |
https://ghr.nlm.nih.gov/gene/GTF2IRD2 |
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eyes and vision, the digestive tract, and the urinary system are also possible. |
related-gene |
gene-symbol |
ghr-page |
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LAT2 |
https://ghr.nlm.nih.gov/gene/LAT2 |
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related-gene |
gene-symbol |
ghr-page |
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LIMK1 |
https://ghr.nlm.nih.gov/gene/LIMK1 |
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related-gene |
gene-symbol |
ghr-page |
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METTL27 |
https://ghr.nlm.nih.gov/gene/METTL27 |
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related-gene |
gene-symbol |
ghr-page |
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MLXIPL |
https://ghr.nlm.nih.gov/gene/MLXIPL |
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related-gene |
gene-symbol |
ghr-page |
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NCF1 |
https://ghr.nlm.nih.gov/gene/NCF1 |
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related-gene |
gene-symbol |
ghr-page |
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NSUN5 |
https://ghr.nlm.nih.gov/gene/NSUN5 |
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related-gene |
gene-symbol |
ghr-page |
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RFC2 |
https://ghr.nlm.nih.gov/gene/RFC2 |
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related-gene |
gene-symbol |
ghr-page |
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STX1A |
https://ghr.nlm.nih.gov/gene/STX1A |
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related-gene |
gene-symbol |
ghr-page |
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TBL2 |
https://ghr.nlm.nih.gov/gene/TBL2 |
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related-gene |
gene-symbol |
ghr-page |
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TMEM270 |
https://ghr.nlm.nih.gov/gene/TMEM270 |
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related-gene |
gene-symbol |
ghr-page |
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TRIM50 |
https://ghr.nlm.nih.gov/gene/TRIM50 |
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related-gene |
gene-symbol |
ghr-page |
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VPS37D |
https://ghr.nlm.nih.gov/gene/VPS37D |
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related-chromosome |
name |
ghr-page |
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7 |
https://ghr.nlm.nih.gov/chromosome/7 |
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related-gene-list |
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Wilson disease |
https://ghr.nlm.nih.gov/condition/wilson-disease |
Wilson disease is a rare disorder that affects approximately 1 in 30,000 |
html:p |
Wilson disease is an inherited disorder in which excessive amounts of copper |
ar |
autosomal recessive |
ATP7B |
https://ghr.nlm.nih.gov/gene/ATP7B |
copper storage disease |
db |
key |
2014-01 |
2017-12-29 |
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小精灵综合症 |
individuals. |
accumulate in the body, particularly in the liver, brain, and eyes. The signs |
related-gene |
gene-symbol |
ghr-page |
hepatolenticular degeneration syndrome |
GTR |
C0019202 |
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Wilson's disease |
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and symptoms of Wilson disease usually first appear between the ages of 6 and |
PRNP |
https://ghr.nlm.nih.gov/gene/PRNP |
WD |
db |
key |
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威爾森氏症 |
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45, but they most often begin during the teenage years. The features of this |
Wilson's disease |
GeneReviews |
wilson |
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condition include a combination of liver disease and neurological and |
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db |
key |
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psychiatric problems. |
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ICD-10-CM |
E83.01 |
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html:p |
Liver disease is typically the initial feature of Wilson disease in affected |
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db |
key |
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children and young adults; individuals diagnosed at an older age usually do not |
MeSH |
D006527 |
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have symptoms of liver problems, although they may have very mild liver disease. |
db |
key |
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The signs and symptoms of liver disease include yellowing of the skin or whites |
OMIM |
277900 |
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of the eyes (jaundice), fatigue, loss of appetite, and abdominal swelling. |
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db |
key |
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html:p |
Nervous system or psychiatric problems are often the initial features in |
|
Orphanet |
905 |
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individuals diagnosed in adulthood and commonly occur in young adults with |
db |
key |
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Wilson disease. Signs and symptoms of these problems can include clumsiness, |
SNOMED CT |
88518009 |
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tremors, difficulty walking, speech problems, impaired thinking ability, |
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depression, anxiety, and mood swings. |
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html:p |
In many individuals with Wilson disease, copper deposits in the front surface of |
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the eye (the cornea) form a green-to-brownish ring, called the Kayser-Fleischer |
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ring, that surrounds the colored part of the eye. Abnormalities in eye |
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movements, such as a restricted ability to gaze upwards, may also occur. |
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related-gene-list |
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Winchester syndrome |
https://ghr.nlm.nih.gov/condition/winchester-syndrome |
Winchester syndrome is a rare condition whose prevalence is unknown. It has |
html:p |
Winchester syndrome is a rare inherited disease characterized by a loss of bone |
ar |
autosomal recessive |
MMP14 |
https://ghr.nlm.nih.gov/gene/MMP14 |
Winchester disease |
db |
key |
2013-12 |
2017-12-29 |
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溫徹斯特綜合症 |
been reported in only a few individuals worldwide. |
tissue (osteolysis), particularly in the hands and feet. Winchester syndrome |
WNCHRS |
GTR |
C0432289 |
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used to be considered part of a related condition now called multicentric |
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osteolysis, nodulosis, and arthropathy (MONA). However, because Winchester |
MeSH |
D010014 |
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syndrome and MONA are caused by mutations in different genes, they are now |
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thought to be separate disorders. |
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OMIM |
277950 |
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html:p |
In most cases of Winchester syndrome, bone loss begins in the hands and feet, |
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causing pain and limiting movement. Bone abnormalities later spread to other |
Orphanet |
3460 |
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parts of the body, with joint problems (arthropathy) occurring in the elbows, |
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shoulders, knees, hips, and spine. Most people with Winchester syndrome develop |
SNOMED CT |
254151006 |
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low bone mineral density (osteopenia) and thinning of the bones (osteoporosis) |
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throughout the skeleton. These abnormalities make bones brittle and more prone |
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to fracture. The bone abnormalities also lead to short stature. |
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html:p |
Some people with Winchester syndrome have skin abnormalities including patches |
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of dark, thick, and leathery skin. Other features of the condition can include |
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clouding of the clear front covering of the eye (corneal opacity), excess hair |
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growth (hypertrichosis), overgrowth of the gums, heart abnormalities, and |
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distinctive facial features that are described as "coarse." |
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related-gene-list |
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Wiskott-Aldrich syndrome |
https://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome |
The estimated incidence of Wiskott-Aldrich syndrome is between 1 and 10 |
html:p |
Wiskott-Aldrich syndrome is characterized by abnormal immune system function |
xr |
X-linked recessive |
WAS |
https://ghr.nlm.nih.gov/gene/WAS |
eczema-thrombocytopenia-immunodeficiency syndrome |
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key |
2013-02 |
2017-12-29 |
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Wiskott-Aldrich 氏综合症 |
cases per million males worldwide; this condition is rarer in females. |
(immune deficiency) and a reduced ability to form blood clots. This condition |
IMD2 |
GTR |
C0043194 |
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Wiskott-Aldrich 症候群 |
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primarily affects males. |
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immunodeficiency 2 |
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(Blood) |
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html:p |
Individuals with Wiskott-Aldrich syndrome have microthrombocytopenia, which is a |
Wiskott syndrome |
GeneReviews |
was |
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decrease in the number and size of blood cell fragments involved in clotting |
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(platelets). This platelet abnormality, which is typically present from birth, |
ICD-10-CM |
D82.0 |
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can lead to easy bruising or episodes of prolonged bleeding following minor |
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trauma. |
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MeSH |
D014923 |
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html:p |
Wiskott-Aldrich syndrome causes many types of white blood cells, which are part |
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of the immune system, to be abnormal or nonfunctional, leading to an increased |
OMIM |
301000 |
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risk of several immune and inflammatory disorders. Many people with this |
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condition develop eczema, an inflammatory skin disorder characterized by |
Orphanet |
906 |
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abnormal patches of red, irritated skin. Affected individuals also have an |
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increased susceptibility to infection. People with Wiskott-Aldrich syndrome are |
SNOMED CT |
36070007 |
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at greater risk of developing autoimmune disorders, which occur when the immune |
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system malfunctions and attacks the body's own tissues and organs. The chance of |
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developing some types of cancer, such as cancer of the immune system cells |
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(lymphoma), is also greater in people with Wiskott-Aldrich syndrome. |
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related-gene-list |
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Wolf-Hirschhorn syndrome |
https://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome |
The prevalence of Wolf-Hirschhorn syndrome is estimated to be 1 in 50,000 |
html:p |
Wolf-Hirschhorn syndrome is a condition that affects many parts of the body. The |
n |
not inherited |
LETM1 |
https://ghr.nlm.nih.gov/gene/LETM1 |
4p deletion syndrome |
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2012-04 |
2017-12-29 |
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沃夫——賀許宏氏症 |
births. However, this may be an underestimate because it is likely that some |
major features of this disorder include a characteristic facial appearance, |
related-gene |
gene-symbol |
ghr-page |
4p- syndrome |
GTR |
C1956097 |
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affected individuals are never diagnosed.For unknown reasons, Wolf-Hirschhorn |
delayed growth and development, intellectual disability, and seizures. |
MSX1 |
https://ghr.nlm.nih.gov/gene/MSX1 |
chromosome 4p deletion syndrome |
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syndrome occurs in about twice as many females as males. |
html:p |
Almost everyone with this disorder has distinctive facial features, including a |
related-gene |
gene-symbol |
ghr-page |
chromosome 4p monosomy |
GeneReviews |
whs |
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broad, flat nasal bridge and a high forehead. This combination is described as |
NSD2 |
https://ghr.nlm.nih.gov/gene/NSD2 |
del(4p) syndrome |
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a "Greek warrior helmet" appearance. The eyes are widely spaced and may be |
related-chromosome |
name |
ghr-page |
monosomy 4p |
ICD-10-CM |
Q93.3 |
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protruding. Other characteristic facial features include a shortened distance |
4 |
https://ghr.nlm.nih.gov/chromosome/4 |
partial monosomy 4p |
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鍾麗淇(Margaret)而言,她只希望患有Wolf–Hirschhorn Syndrome(WHS,沃夫——賀許宏氏症)的四歲女兒Isabella可以快快樂樂過每一天。 |
between the nose and upper lip (a short philtrum), a downturned mouth, a small |
WHS |
MeSH |
D054877 |
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chin (micrognathia), and poorly formed ears with small holes (pits) or flaps of |
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skin (tags). Additionally, affected individuals may have asymmetrical facial |
OMIM |
194190 |
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features and an unusually small head (microcephaly). |
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html:p |
People with Wolf-Hirschhorn syndrome experience delayed growth and development. |
Orphanet |
280 |
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Slow growth begins before birth, and affected infants tend to have problems |
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feeding and gaining weight (failure to thrive). They also have weak muscle tone |
SNOMED CT |
17122004 |
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(hypotonia) and underdeveloped muscles. Motor skills such as sitting, standing, |
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and walking are significantly delayed. Most children and adults with this |
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disorder also have short stature. |
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html:p |
Intellectual disability ranges from mild to severe in people with |
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Wolf-Hirschhorn syndrome. Compared to people with other forms of intellectual |
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disability, their socialization skills are strong, while verbal communication |
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and language skills tend to be weaker. Most affected children also have |
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seizures, which may be resistant to treatment. Seizures tend to disappear with |
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age. |
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html:p |
Additional features of Wolf-Hirschhorn syndrome include skin changes such as |
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mottled or dry skin, skeletal abnormalities such as abnormal curvature of the |
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spine (scoliosis and kyphosis), dental problems including missing teeth, and an |
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opening in the roof of the mouth (cleft palate) and/or in the lip (cleft lip). |
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Wolf-Hirschhorn syndrome can also cause abnormalities of the eyes, heart, |
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genitourinary tract, and brain. |
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html:p |
A condition called Pitt-Rogers-Danks syndrome has features that overlap with |
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those of Wolf-Hirschhorn syndrome. Researchers now recognize that these two |
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conditions are actually part of a single syndrome with variable signs and |
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symptoms. |
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related-gene-list |
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Wolff-Parkinson-White syndrome |
https://ghr.nlm.nih.gov/condition/wolff-parkinson-white-syndrome |
Wolff-Parkinson-White syndrome affects 1 to 3 in 1,000 people |
html:p |
Wolff-Parkinson-White syndrome is a condition characterized by abnormal |
ad |
autosomal dominant |
PRKAG2 |
https://ghr.nlm.nih.gov/gene/PRKAG2 |
Ventricular pre-excitation with arrhythmia |
db |
key |
2017-06 |
2017-12-29 |
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沃爾夫-巴金森-懷特氏症候群 |
worldwide.Wolff-Parkinson-White syndrome is a common cause of an arrhythmia |
electrical pathways in the heart that cause a disruption of the heart's normal |
WPW Syndrome |
GTR |
C0043202 |
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伍爾夫帕金氏懷特症候群 |
known as paroxysmal supraventricular tachycardia. Wolff-Parkinson-White syndrome |
rhythm (arrhythmia). |
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(heart) |
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is the most frequent cause of this abnormal heart rhythm in the Chinese |
html:p |
The heartbeat is controlled by electrical signals that move through the heart in |
ICD-10-CM |
I45.6 |
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population, where it is responsible for more than 70 percent of cases. |
a highly coordinated way. A specialized cluster of cells called the |
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atrioventricular node conducts electrical impulses from the heart's upper |
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MeSH |
D014927 |
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chambers (the atria) to the lower chambers (the ventricles). Impulses move |
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through the atrioventricular node during each heartbeat, stimulating the |
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OMIM |
194200 |
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ventricles to contract slightly later than the atria. |
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html:p |
People with Wolff-Parkinson-White syndrome are born with an extra connection in |
Orphanet |
907 |
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the heart, called an accessory pathway, that allows electrical signals to bypass |
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the atrioventricular node and move from the atria to the ventricles faster than |
SNOMED CT |
74390002 |
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usual. The accessory pathway may also transmit electrical impulses abnormally |
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from the ventricles back to the atria. This extra connection can disrupt the |
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coordinated movement of electrical signals through the heart, leading to an |
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abnormally fast heartbeat (tachycardia) and other changes in heart rhythm. |
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Resulting symptoms include dizziness, a sensation of fluttering or pounding in |
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the chest (palpitations), shortness of breath, and fainting (syncope). In rare |
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cases, arrhythmias associated with Wolff-Parkinson-White syndrome can lead to |
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cardiac arrest and sudden death. The most common arrhythmia associated with |
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Wolff-Parkinson-White syndrome is called paroxysmal supraventricular |
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tachycardia. |
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html:p |
Complications of Wolff-Parkinson-White syndrome can occur at any age, although |
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some individuals born with an accessory pathway in the heart never experience |
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any health problems associated with the condition. |
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html:p |
Wolff-Parkinson-White syndrome often occurs with other structural abnormalities |
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of the heart or underlying heart disease. The most common heart defect |
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associated with the condition is Ebstein anomaly, which affects the valve that |
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allows blood to flow from the right atrium to the right ventricle (the tricuspid |
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valve). Additionally, the heart rhythm problems associated with |
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Wolff-Parkinson-White syndrome can be a component of several other genetic |
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syndromes, including hypokalemic periodic paralysis (a condition that causes |
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episodes of extreme muscle weakness), Pompe disease (a disorder characterized by |
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the storage of excess glycogen), Danon disease (a condition that weakens the |
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heart and skeletal muscles and causes intellectual disability), and tuberous |
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sclerosis complex (a condition that results in the growth of noncancerous tumors |
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in many parts of the body). |
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related-gene-list |
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Wolfram syndrome |
https://ghr.nlm.nih.gov/condition/wolfram-syndrome |
The estimated prevalence of Wolfram syndrome type 1 is 1 in 500,000 people |
html:p |
Wolfram syndrome is a condition that affects many of the body's systems. The |
ar |
autosomal recessive |
CISD2 |
https://ghr.nlm.nih.gov/gene/CISD2 |
diabetes insipidus and mellitus with optic atrophy and deafness |
db |
key |
2015-09 |
2017-12-29 |
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Wolfram 症候群 |
worldwide. Approximately 200 cases have been described in the scientific |
hallmark features of Wolfram syndrome are high blood sugar levels resulting from |
related-gene |
gene-symbol |
ghr-page |
diabetes insipidus, diabetes mellitus, optic atrophy, and deafness |
GTR |
C0043207 |
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literature. Only a few families from Jordan have been found to have Wolfram |
a shortage of the hormone insulin (diabetes mellitus) and progressive vision |
WFS1 |
https://ghr.nlm.nih.gov/gene/WFS1 |
DIDMOAD |
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syndrome type 2. |
loss due to degeneration of the nerves that carry information from the eyes to |
DIDMOAD syndrome |
GTR |
C1858028 |
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the brain (optic atrophy). People with Wolfram syndrome often also have |
DIDMOADUD |
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pituitary gland dysfunction that results in the excretion of excessive amounts |
GeneReviews |
wfs |
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of urine (diabetes insipidus), hearing loss caused by changes in the inner ear |
db |
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(sensorineural deafness), urinary tract problems, reduced amounts of the sex |
MeSH |
D014929 |
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hormone testosterone in males (hypogonadism), or neurological or psychiatric |
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disorders. |
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html:p |
Diabetes mellitus is typically the first symptom of Wolfram syndrome, usually |
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diagnosed around age 6. Nearly everyone with Wolfram syndrome who develops |
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604928 |
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diabetes mellitus requires insulin replacement therapy. Optic atrophy is often |
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the next symptom to appear, usually around age 11. The first signs of optic |
Orphanet |
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atrophy are loss of color vision and side (peripheral) vision. Over time, the |
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vision problems get worse, and people with optic atrophy are usually blind |
SNOMED CT |
70694009 |
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within approximately 8 years after signs of optic atrophy first begin. |
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html:p |
In diabetes insipidus, the pituitary gland, which is located at the base of the |
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brain, does not function normally. This abnormality disrupts the release of a |
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hormone called vasopressin, which helps control the body's water balance and |
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urine production. Approximately 70 percent of people with Wolfram syndrome have |
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diabetes insipidus. Pituitary gland dysfunction can also cause hypogonadism in |
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males. The lack of testosterone that occurs with hypogonadism affects growth and |
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sexual development. About 65 percent of people with Wolfram syndrome have |
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sensorineural deafness that can range in severity from deafness beginning at |
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birth to mild hearing loss beginning in adolescence that worsens over time. |
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Sixty to 90 percent of people with Wolfram syndrome have a urinary tract |
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problem. Urinary tract problems include obstruction of the ducts between the |
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kidneys and bladder (ureters), a large bladder that cannot empty normally |
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(high-capacity atonal bladder), disrupted urination (bladder sphincter |
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dyssynergia), and difficulty controlling the flow of urine (incontinence). |
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html:p |
About 60 percent of people with Wolfram syndrome develop a neurological or |
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psychiatric disorder, most commonly problems with balance and coordination |
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(ataxia), typically beginning in early adulthood. Other neurological problems |
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experienced by people with Wolfram syndrome include irregular breathing caused |
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by the brain's inability to control breathing (central apnea), loss of the sense |
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of smell, loss of the gag reflex, muscle spasms (myoclonus), seizures, reduced |
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sensation in the lower extremities (peripheral neuropathy), and intellectual |
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impairment. Psychiatric disorders associated with Wolfram syndrome include |
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psychosis, episodes of severe depression, and impulsive and aggressive behavior. |
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html:p |
There are two types of Wolfram syndrome with many overlapping features. The two |
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types are differentiated by their genetic cause. In addition to the usual |
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features of Wolfram syndrome, individuals with Wolfram syndrome type 2 have |
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stomach or intestinal ulcers and excessive bleeding after an injury. The |
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tendency to bleed excessively combined with the ulcers typically leads to |
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abnormal bleeding in the gastrointestinal system. People with Wolfram syndrome |
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type 2 do not develop diabetes insipidus. |
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html:p |
Wolfram syndrome is often fatal by mid-adulthood due to complications from the |
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many features of the condition, such as health problems related to diabetes |
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mellitus or neurological problems. |
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related-gene-list |
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Woodhouse-Sakati syndrome |
https://ghr.nlm.nih.gov/condition/woodhouse-sakati-syndrome |
Woodhouse-Sakati syndrome is a rare disorder; its prevalence is unknown. |
html:p |
Woodhouse-Sakati syndrome is a disorder that primarily affects the body's |
ar |
autosomal recessive |
DCAF17 |
https://ghr.nlm.nih.gov/gene/DCAF17 |
diabetes-hypogonadism-deafness-intellectual disability syndrome |
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key |
2016-09 |
2017-12-29 |
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Only a few dozen affected families, mostly in the Middle East, have been |
network of hormone-producing glands (the endocrine system) and the nervous |
extrapyramidal disorder, progressive, with primary hypogonadism, mental |
GTR |
C0342286 |
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described in the medical literature. |
system. The signs and symptoms of this condition, which gradually get worse, |
retardation, and alopecia |
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vary widely among affected individuals, even within the same family. |
hypogonadism, alopecia, diabetes mellitus, mental retardation, and |
GeneReviews |
wss |
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html:p |
People with Woodhouse-Sakati syndrome produce abnormally low amounts of hormones |
extrapyramidal syndrome |
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that direct sexual development (hypogonadism), which typically becomes apparent |
hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and |
MeSH |
D001480 |
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during adolescence. Without hormone replacement therapy, affected individuals |
extrapyramidal syndrome |
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do not develop secondary sexual characteristics such as pubic hair, breast |
hypogonadism, diabetes mellitus, alopecia, mental retardation and |
MeSH |
D007006 |
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growth in females, or a deepening voice in males. Females with Woodhouse-Sakati |
electrocardiographic abnormalities |
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key |
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syndrome do not have functional ovaries and may instead have undeveloped clumps |
WSS |
OMIM |
241080 |
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of tissue called streak gonads. The uterus may also be small or absent in |
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affected females. Males with this disorder have testes that produce little to no |
Orphanet |
3464 |
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sperm. As a result, people with Woodhouse-Sakati syndrome usually have an |
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inability to conceive children (infertility). |
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SNOMED CT |
237616002 |
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html:p |
By their mid-twenties, almost all affected individuals develop diabetes |
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mellitus, and they may also have reduced production of thyroid hormones |
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(hypothyroidism). People with Woodhouse-Sakati syndrome also experience hair |
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loss beginning in childhood that gradually gets worse, often resulting in the |
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loss of all scalp hair (alopecia totalis) during adulthood. Eyelashes and |
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eyebrows are sparse or absent, and affected men have little or no facial hair. |
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Some affected individuals have additional characteristic facial features |
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including a long, triangular face; widely spaced eyes (hypertelorism); and a |
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prominent bridge of the nose. |
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html:p |
More than half of people with Woodhouse-Sakati syndrome have neurological |
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problems. A group of movement abnormalities called dystonias are common in |
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affected individuals, generally beginning in adolescence or young adulthood. |
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These movement abnormalities can include involuntary tensing of the muscles |
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(muscle contractions) or twisting of specific body parts such as an arm or a |
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leg. Other neurological features can include difficulty with speech (dysarthria) |
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or swallowing (dysphagia), mild intellectual disability, and hearing loss |
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caused by changes in the inner ears (sensorineural hearing loss). The hearing |
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problems develop after the individual has acquired spoken language |
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(post-lingual), usually in adolescence. |
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html:p |
In some affected individuals, abnormal deposits of iron in the brain have been |
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detected with medical imaging. For this reason, Woodhouse-Sakati syndrome is |
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sometimes classified as part of a group of disorders called neurodegeneration |
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with brain iron accumulation (NBIA). |
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related-gene-list |
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X-linked acrogigantism |
https://ghr.nlm.nih.gov/condition/x-linked-acrogigantism |
X-LAG is thought to be a rare condition, although the prevalence is not |
html:p |
X-linked acrogigantism (X-LAG) is a condition that causes abnormally fast growth |
ad |
autosomal dominant |
GPR101 |
https://ghr.nlm.nih.gov/gene/GPR101 |
chromosome Xq26 microduplication syndrome |
db |
key |
2017-11 |
2017-12-29 |
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known. It occurs more frequently in females than in males. X-LAG accounts for |
beginning early in life. Babies with this condition are a normal size at birth |
related-chromosome |
name |
ghr-page |
chromosome Xq26.3 duplication syndrome |
GTR |
C3891556 |
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one in ten cases of abnormally fast growth in children that is caused by |
but begin to grow rapidly in infancy or early childhood, and affected children |
X |
https://ghr.nlm.nih.gov/chromosome/X |
X-LAG |
db |
key |
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pituitary gland abnormalities (pituitary gigantism). |
are taller than their peers. |
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X-linked acrogigantism syndrome |
MeSH |
D005877 |
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html:p |
This rapid growth is caused by an abnormality of the pituitary gland. The |
XLAG |
db |
key |
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pituitary gland, which is found at the base of the brain, produces hormones that |
OMIM |
300942 |
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control many important body functions, including growth. Individuals with X-LAG |
db |
key |
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may have the condition as a result of enlargement (hyperplasia) of the gland or |
Orphanet |
448372 |
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development of a noncancerous tumor in the gland (called a pituitary adenoma). |
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Rarely, an affected individual has both pituitary hyperplasia and an adenoma. |
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The abnormal gland releases excess amounts of growth hormone, a hormone that |
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normally helps direct growth of the body's bones and tissues. Some people with |
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X-LAG also have excess amounts of a hormone called growth hormone releasing |
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hormone (GHRH), which is produced by a part of the brain called the |
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hypothalamus. This hormone stimulates the release of growth hormone from the |
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pituitary gland. |
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html:p |
Some people with X-LAG have additional signs and symptoms such as facial |
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features that are described as coarse; disproportionately large hands or feet |
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(acral enlargement); an increased appetite; and a skin condition called |
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acanthosis nigricans, in which the skin in body folds and creases becomes thick, |
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dark, and velvety. |
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related-gene-list |
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X-linked adrenal hypoplasia congenita |
https://ghr.nlm.nih.gov/condition/x-linked-adrenal-hypoplasia-congenita |
X-linked adrenal hypoplasia congenita appears to be an uncommon condition. |
html:p |
X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. |
xr |
X-linked recessive |
NR0B1 |
https://ghr.nlm.nih.gov/gene/NR0B1 |
Adrenal hypoplasia congenita |
db |
key |
2008-04 |
2017-12-29 |
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性染色體隱性遺傳型先天性腎上腺發育不良 |
It has been reported to affect approximately 1 in 12,500 newborns, but this is |
It involves many hormone-producing (endocrine) tissues in the body, particularly |
X-linked AHC |
GTR |
C0342482 |
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(Hormone) |
likely an overestimate. The true prevalence of this condition is unknown. |
a pair of small glands on top of each kidney called the adrenal glands. These |
db |
key |
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glands produce a variety of hormones that regulate many essential functions in |
GeneReviews |
ahc |
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the body. |
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db |
key |
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html:p |
One of the main signs of this disorder is adrenal insufficiency, which occurs |
MeSH |
D000307 |
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when the adrenal glands do not produce enough hormones. Adrenal insufficiency |
db |
key |
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typically begins in infancy or childhood and can cause vomiting, difficulty with |
OMIM |
300200 |
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feeding, dehydration, extremely low blood sugar (hypoglycemia), and shock. If |
db |
key |
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untreated, these complications are often life-threatening. |
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Orphanet |
95702 |
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html:p |
Affected males may also have a shortage of male sex hormones, which leads to |
db |
key |
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underdeveloped reproductive tissues, undescended testicles (cryptorchidism), |
SNOMED CT |
237764004 |
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delayed puberty, and an inability to father children (infertility). Together, |
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these characteristics are known as hypogonadotropic hypogonadism. |
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html:p |
The onset and severity of these signs and symptoms can vary, even among affected |
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members of the same family. |
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related-gene-list |
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X-linked adrenoleukodystrophy |
https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy |
The prevalence of X-linked adrenoleukodystrophy is 1 in 20,000 to 50,000 |
html:p |
X-linked adrenoleukodystrophy is a genetic disorder that occurs primarily in |
xr |
X-linked recessive |
ABCD1 |
https://ghr.nlm.nih.gov/gene/ABCD1 |
Addison disease and cerebral sclerosis |
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2013-07 |
2017-12-29 |
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腎上腺腦白質失養症 |
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individuals worldwide. This condition occurs with a similar frequency in all |
males. It mainly affects the nervous system and the adrenal glands, which are |
melanodermic leukodystrophy |
GTR |
C0162309 |
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populations. |
small glands located on top of each kidney. In this disorder, the fatty covering |
Schilder-Addison Complex |
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(myelin) that insulates nerves in the brain and spinal cord is prone to |
Schilder disease |
GeneReviews |
x-ald |
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deterioration (demyelination), which reduces the ability of the nerves to relay |
Siemerling-Creutzfeldt disease |
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information to the brain. In addition, damage to the outer layer of the adrenal |
X-ALD |
ICD-10-CM |
E71.52 |
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glands (adrenal cortex) causes a shortage of certain hormones (adrenocortical |
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insufficiency). Adrenocortical insufficiency may cause weakness, weight loss, |
ICD-10-CM |
E71.520 |
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skin changes, vomiting, and coma. |
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html:p |
There are three distinct types of X-linked adrenoleukodystrophy: a childhood |
ICD-10-CM |
E71.521 |
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cerebral form, an adrenomyeloneuropathy type, and a form called Addison disease |
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only. |
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ICD-10-CM |
E71.522 |
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html:p |
Children with the cerebral form of X-linked adrenoleukodystrophy experience |
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learning and behavioral problems that usually begin between the ages of 4 and |
ICD-10-CM |
E71.528 |
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10. Over time the symptoms worsen, and these children may have difficulty |
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reading, writing, understanding speech, and comprehending written material. |
ICD-10-CM |
E71.529 |
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Additional signs and symptoms of the cerebral form include aggressive behavior, |
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vision problems, difficulty swallowing, poor coordination, and impaired adrenal |
MeSH |
D000326 |
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gland function. The rate at which this disorder progresses is variable but can |
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be extremely rapid, often leading to total disability within a few years. The |
OMIM |
300100 |
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life expectancy of individuals with this type depends on the severity of the |
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signs and symptoms and how quickly the disorder progresses. Individuals with the |
Orphanet |
43 |
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cerebral form of X-linked adrenoleukodystrophy usually survive only a few years |
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after symptoms begin but may survive longer with intensive medical support. |
SNOMED CT |
3.7E+14 |
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html:p |
Signs and symptoms of the adrenomyeloneuropathy type appear between early |
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adulthood and middle age. Affected individuals develop progressive stiffness and |
SNOMED CT |
3.7E+14 |
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weakness in their legs (paraparesis), experience urinary and genital tract |
db |
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disorders, and often show changes in behavior and thinking ability. Most people |
SNOMED CT |
65389002 |
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with the adrenomyeloneuropathy type also have adrenocortical insufficiency. In |
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some severely affected individuals, damage to the brain and nervous system can |
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lead to early death. |
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html:p |
People with X-linked adrenoleukodystrophy whose only symptom is adrenocortical |
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insufficiency are said to have the Addison disease only form. In these |
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individuals, adrenocortical insufficiency can begin anytime between childhood |
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and adulthood. However, most affected individuals develop the additional |
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features of the adrenomyeloneuropathy type by the time they reach middle age. |
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The life expectancy of individuals with this form depends on the severity of the |
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signs and symptoms, but typically this is the mildest of the three types. |
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html:p |
Rarely, individuals with X-linked adrenoleukodystrophy develop multiple features |
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of the disorder in adolescence or early adulthood. In addition to |
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adrenocortical insufficiency, these individuals usually have psychiatric |
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disorders and a loss of intellectual function (dementia). It is unclear whether |
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these individuals have a distinct form of the condition or a variation of one of |
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the previously described types. |
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html:p |
For reasons that are unclear, different forms of X-linked adrenoleukodystrophy |
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can be seen in affected individuals within the same family. |
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related-gene-list |
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X-linked agammaglobulinemia |
https://ghr.nlm.nih.gov/condition/x-linked-agammaglobulinemia |
XLA occurs in approximately 1 in 200,000 newborns. |
html:p |
X-linked agammaglobulinemia (XLA) is a condition that affects the immune system |
xr |
X-linked recessive |
BTK |
https://ghr.nlm.nih.gov/gene/BTK |
agammaglobulinemia |
db |
key |
2015-02 |
2017-12-29 |
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Bruton Disease |
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and occurs almost exclusively in males. People with XLA have very few B cells, |
Bruton's agammaglobulinemia |
GTR |
C0221026 |
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布魯頓式低免疫球蛋白症 |
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which are specialized white blood cells that help protect the body against |
congenital agammaglobulinemia |
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infection. B cells can mature into the cells that produce special proteins |
hypogammaglobulinemia |
GeneReviews |
xla |
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called antibodies or immunoglobulins. Antibodies attach to specific foreign |
XLA |
db |
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particles and germs, marking them for destruction. Individuals with XLA are more |
ICD-10-CM |
D80.0 |
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susceptible to infections because their body makes very few antibodies. |
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html:p |
Children with XLA are usually healthy for the first 1 or 2 months of life |
|
MeSH |
D000361 |
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because they are protected by antibodies acquired before birth from their |
db |
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mother. After this time, the maternal antibodies are cleared from the body, and |
OMIM |
300755 |
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the affected child begins to develop recurrent infections. In children with XLA, |
db |
key |
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infections generally take longer to get better and then they come back again, |
Orphanet |
47 |
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even with antibiotic medications. The most common bacterial infections that |
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occur in people with XLA are lung infections (pneumonia and bronchitis), ear |
SNOMED CT |
65880007 |
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infections (otitis), pink eye (conjunctivitis), and sinus infections |
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(sinusitis). Infections that cause chronic diarrhea are also common. Recurrent |
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infections can lead to organ damage. People with XLA can develop severe, |
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life-threatening bacterial infections; however, affected individuals are not |
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particularly vulnerable to infections caused by viruses. With treatment to |
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replace antibodies, infections can usually be prevented, improving the quality |
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of life for people with XLA. |
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related-gene-list |
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X-linked cardiac valvular dysplasia |
https://ghr.nlm.nih.gov/condition/x-linked-cardiac-valvular-dysplasia |
The prevalence of X-linked cardiac valvular dysplasia is unknown. |
html:p |
X-linked cardiac valvular dysplasia is a condition characterized by the abnormal |
x |
X-linked |
|
FLNA |
https://ghr.nlm.nih.gov/gene/FLNA |
congenital valvular heart disease |
db |
key |
2016-08 |
2017-12-29 |
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(Heart) |
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Approximately 3 percent of the population has a heart valve defect, only a small |
development (dysplasia) of heart (cardiac) valves. The normal heart has four |
CVD1 |
GTR |
C0262436 |
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fraction of which are associated with X-linked cardiac valvular dysplasia. |
valves, two on the left side of the heart and two on the right side, that allow |
filamin-A-associated myxomatous mitral valve disease |
db |
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blood to move through the heart and prevent blood from flowing backward. In |
filamin-A-related myxomatous mitral valve dystrophy |
MeSH |
D016127 |
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X-linked cardiac valvular dysplasia, one or more of the four heart valves is |
X-linked myxomatous valvular dystrophy |
db |
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thickened and cannot open and close completely when the heart beats and pumps |
XMVD |
OMIM |
314400 |
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blood. These malformed valves can cause abnormal blood flow and an irregular |
db |
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heart sound during a heartbeat (heart murmur). |
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SNOMED CT |
5203004 |
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html:p |
The signs and symptoms of X-linked cardiac valvular dysplasia vary greatly among |
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affected individuals. Some people have no health problems, while in others |
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blood can leak through the thickened and partially closed valves. This valve |
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leakage (regurgitation) typically affects the mitral valve, which connects the |
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two left chambers of the heart, or the aortic valve, which regulates blood flow |
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from the heart into the large artery called the aorta. Valve regurgitation |
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forces the heart to pump harder to move blood through the heart. As a result, |
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affected individuals may develop chest pains, shortness of breath, or |
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lightheadedness. |
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html:p |
In X-linked cardiac valvular dysplasia, the mitral or aortic valve can also be |
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prolapsed, which means that the valve is weak or floppy. Valve prolapse further |
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prevents the thickened valve from closing properly and can lead to valve |
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regurgitation. Other rare complications of X-linked cardiac valvular dysplasia |
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include inflammation of the inner lining of the heart (endocarditis), abnormal |
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blood clots, or sudden death. |
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html:p |
X-linked cardiac valvular dysplasia can be diagnosed anytime from birth (in some |
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cases prenatally) to late adulthood but is typically diagnosed in early to |
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mid-adulthood because valve malformation is often a slow process. This condition |
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affects males more often and more severely than females. |
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related-gene-list |
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X-linked chondrodysplasia punctata 1 |
https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-1 |
The prevalence of X-linked chondrodysplasia punctata 1 is unknown. Several |
html:p |
X-linked chondrodysplasia punctata 1 is a disorder of cartilage and bone |
xr |
X-linked recessive |
ARSE |
https://ghr.nlm.nih.gov/gene/ARSE |
arylsulfatase E deficiency |
db |
key |
2011-11 |
2017-12-29 |
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dozen affected males have been reported in the scientific literature. |
development that occurs almost exclusively in males. Chondrodysplasia punctata |
CDPX1 |
GTR |
C1844853 |
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is an abnormality that appears on x-rays as spots (stippling) near the ends of |
chondrodysplasia punctata 1, X-linked |
db |
key |
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bones and in cartilage. In most infants with X-linked chondrodysplasia punctata |
X-linked recessive chondrodysplasia punctata 1 |
GeneReviews |
cdp1-xlr |
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1, this stippling is seen in bones of the ankles, toes, and fingers; however, it |
db |
key |
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can also appear in other bones. The stippling generally disappears in early |
ICD-10-CM |
Q77.3 |
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childhood. |
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db |
key |
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html:p |
Other characteristic features of X-linked chondrodysplasia punctata 1 include |
MeSH |
D002806 |
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short stature and unusually short fingertips and ends of the toes. This |
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db |
key |
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condition is also associated with distinctive facial features, particularly a |
|
OMIM |
302950 |
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flattened-appearing nose with crescent-shaped nostrils and a flat nasal bridge. |
db |
key |
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html:p |
People with X-linked chondrodysplasia punctata 1 typically have normal |
|
Orphanet |
79345 |
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intelligence and a normal life expectancy. However, some affected individuals |
db |
key |
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have had serious or life-threatening complications including abnormal thickening |
SNOMED CT |
254082007 |
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(stenosis) of the cartilage that makes up the airways, which restricts |
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breathing. Also, abnormalities of spinal bones in the neck can lead to pinching |
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(compression) of the spinal cord, which can cause pain, numbness, and weakness. |
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Other, less common features of X-linked chondrodysplasia punctata 1 include |
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delayed development, hearing loss, vision abnormalities, and heart defects. |
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related-gene-list |
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X-linked chondrodysplasia punctata 2 |
https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-2 |
X-linked chondrodysplasia punctata 2 has been estimated to affect fewer |
html:p |
X-linked chondrodysplasia punctata 2 is a disorder characterized by bone, skin, |
xd |
X-linked dominant |
EBP |
https://ghr.nlm.nih.gov/gene/EBP |
CDPX2 |
db |
key |
2011-11 |
2017-12-29 |
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Conradi- Hünermann syndrome |
than 1 in 400,000 newborns. However, the disorder may actually be more common |
and eye abnormalities. It occurs almost exclusively in females. |
chondrodysplasia punctata 2, X-linked |
GTR |
C0282102 |
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Conradi- Hünermann氏综合症 |
than this estimate because it is likely underdiagnosed, particularly in females |
html:p |
Although the signs and symptoms of this condition vary widely, almost all |
Conradi-Hünermann-Happle syndrome |
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Conradi-Hunermann症候群-性聯遺傳 |
with mild signs and symptoms.More than 95 percent of cases of X-linked |
affected individuals have chondrodysplasia punctata, an abnormality that appears |
Conradi-Hünermann Syndrome |
GeneReviews |
x-dcdp |
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chondrodysplasia punctata 2 occur in females. About a dozen males with the |
on x-rays as spots (stippling) near the ends of bones and in cartilage. In this |
Happle syndrome |
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condition have been reported in the scientific literature. |
form of chondrodysplasia punctata, the stippling typically affects the long |
X-linked dominant chondrodysplasia punctata |
ICD-10-CM |
Q77.3 |
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bones in the arms and legs, the ribs, the spinal bones (vertebrae), and the |
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cartilage that makes up the windpipe (trachea). The stippling is apparent in |
MeSH |
D002806 |
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infancy but disappears in early childhood. Other skeletal abnormalities seen in |
db |
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people with X-linked chondrodysplasia punctata 2 include shortening of the bones |
OMIM |
302960 |
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in the upper arms and thighs (rhizomelia) that is often different on the right |
db |
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and left sides, and progressive abnormal curvature of the spine |
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Orphanet |
35173 |
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(kyphoscoliosis). As a result of these abnormalities, people with this condition |
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tend to have short stature. |
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SNOMED CT |
398719004 |
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html:p |
Infants with X-linked chondrodysplasia punctata 2 are born with dry, scaly |
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patches of skin (ichthyosis) in a linear or spiral (whorled) pattern. The scaly |
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patches fade over time, leaving abnormally colored blotches of skin without |
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hair (follicular atrophoderma). Most affected individuals also have sparse, |
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coarse hair on their scalps. |
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html:p |
Most people with X-linked chondrodysplasia punctata 2 have clouding of the lens |
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of the eye (cataracts) from birth or early childhood. Other eye abnormalities |
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that have been associated with this disorder include unusually small eyes |
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(microphthalmia) and small corneas (microcornea). The cornea is the clear front |
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surface of the eye. These eye abnormalities can impair vision. |
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html:p |
In affected females, X-linked chondrodysplasia punctata 2 is typically |
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associated with normal intelligence and a normal lifespan. However, a much more |
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severe form of the condition has been reported in a small number of males. |
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Affected males have some of the same features as affected females, as well as |
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weak muscle tone (hypotonia), changes in the structure of the brain, moderately |
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to profoundly delayed development, seizures, distinctive facial features, and |
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other birth defects. The health problems associated with X-linked |
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chondrodysplasia punctata 2 are often life-threatening in males. |
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related-gene-list |
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X-linked congenital stationary night blindness |
https://ghr.nlm.nih.gov/condition/x-linked-congenital-stationary-night-blindness |
The prevalence of this condition is unknown. It appears to be more common |
html:p |
X-linked congenital stationary night blindness is a disorder of the retina, |
xr |
X-linked recessive |
CACNA1F |
https://ghr.nlm.nih.gov/gene/CACNA1F |
X-linked CSNB |
db |
key |
2009-05 |
2017-12-29 |
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in people of Dutch-German Mennonite descent. However, this disorder has been |
which is the specialized tissue at the back of the eye that detects light and |
related-gene |
gene-symbol |
ghr-page |
XLCSNB |
GTR |
C0339535 |
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reported in families with many different ethnic backgrounds. The incomplete form |
color. People with this condition typically have difficulty seeing in low light |
NYX |
https://ghr.nlm.nih.gov/gene/NYX |
db |
key |
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is more common than the complete form. |
(night blindness). They also have other vision problems, including loss of |
GTR |
C1839601 |
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sharpness (reduced acuity), severe nearsightedness (high myopia), involuntary |
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key |
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movements of the eyes (nystagmus), and eyes that do not look in the same |
GTR |
C1848172 |
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direction (strabismus). Color vision is typically not affected by this disorder. |
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html:p |
The vision problems associated with this condition are congenital, which means |
GeneReviews |
csnb |
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they are present from birth. They tend to remain stable (stationary) over time. |
db |
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html:p |
Researchers have identified two major types of X-linked congenital stationary |
ICD-10-CM |
H53.63 |
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night blindness: the complete form and the incomplete form. The types have very |
db |
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similar signs and symptoms. However, everyone with the complete form has night |
MeSH |
D009755 |
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blindness, while not all people with the incomplete form have night blindness. |
db |
key |
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The types are distinguished by their genetic cause and by the results of a test |
OMIM |
300071 |
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called an electroretinogram, which measures the function of the retina. |
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OMIM |
310500 |
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db |
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Orphanet |
215 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
232061009 |
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X-linked creatine deficiency |
https://ghr.nlm.nih.gov/condition/x-linked-creatine-deficiency |
The prevalence of X-linked creatine deficiency is unknown. More than 150 |
html:p |
X-linked creatine deficiency is an inherited disorder that primarily affects the |
x |
X-linked |
|
SLC6A8 |
https://ghr.nlm.nih.gov/gene/SLC6A8 |
creatine transporter defect |
db |
key |
2015-06 |
2017-12-29 |
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|
X連鎖肌酸缺乏症 |
affected individuals have been identified. The disorder has been estimated to |
brain. People with this disorder have intellectual disability, which can range |
creatine transporter deficiency |
GTR |
C1845862 |
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account for between 1 and 2 percent of males with intellectual disability. |
from mild to severe, and delayed speech development. Some affected individuals |
SLC6A8 deficiency |
db |
key |
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develop behavioral disorders such as attention deficit hyperactivity disorder or |
SLC6A8-related creatine transporter deficiency |
GeneReviews |
creatine |
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autistic behaviors that affect communication and social interaction. They may |
X-linked creatine deficiency syndrome |
db |
key |
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also experience seizures. Children with X-linked creatine deficiency may |
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MeSH |
D020739 |
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experience slow growth and exhibit delayed development of motor skills such as |
db |
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sitting and walking. Affected individuals tend to tire easily. |
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OMIM |
300352 |
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html:p |
A small number of people with X-linked creatine deficiency have additional signs |
db |
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and symptoms including abnormal heart rhythms, an unusually small head |
Orphanet |
52503 |
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(microcephaly), or distinctive facial features such as a broad forehead and a |
db |
key |
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flat or sunken appearance of the middle of the face (midface hypoplasia). |
SNOMED CT |
698290008 |
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inheritance-pattern-list |
related-gene-list |
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X-linked dilated cardiomyopathy |
https://ghr.nlm.nih.gov/condition/x-linked-dilated-cardiomyopathy |
X-linked dilated cardiomyopathy appears to be an uncommon condition, |
html:p |
X-linked dilated cardiomyopathy is a form of heart disease. Dilated |
xd |
X-linked dominant |
DMD |
synonym |
db-key |
db |
key |
2017-02 |
2017-12-29 |
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(heart) |
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although its prevalence is unknown. |
cardiomyopathy enlarges and weakens the heart (cardiac) muscle, preventing the |
synonym |
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GTR |
C3668940 |
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heart from pumping blood efficiently. Signs and symptoms of this condition can |
synonym |
db-key |
db |
key |
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include an irregular heartbeat (arrhythmia), shortness of breath, extreme |
synonym |
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GeneReviews |
dbmd |
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tiredness (fatigue), and swelling of the legs and feet. In males with X-linked |
synonym |
db-key |
db |
key |
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dilated cardiomyopathy, heart problems usually develop early in life and worsen |
synonym |
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GeneReviews |
dcm-ov |
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quickly, leading to heart failure in adolescence or early adulthood. In affected |
db-key |
db |
key |
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females, the condition appears later in life and worsens more slowly. |
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ICD-10-CM |
I42.0 |
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html:p |
X-linked dilated cardiomyopathy is part of a spectrum of related conditions |
db-key |
db |
key |
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html:i |
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MeSH |
D002311 |
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DMD |
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db-key |
db |
key |
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OMIM |
302045 |
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db-key |
db |
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Orphanet |
154 |
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db-key |
db |
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SNOMED CT |
702424003 |
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related-gene-list |
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X-linked dystonia-parkinsonism |
https://ghr.nlm.nih.gov/condition/x-linked-dystonia-parkinsonism |
X-linked dystonia-parkinsonism has been reported in more than 500 people of |
html:p |
X-linked dystonia-parkinsonism is a movement disorder that has been found only |
xr |
X-linked recessive |
TAF1 |
https://ghr.nlm.nih.gov/gene/TAF1 |
Dystonia 3, torsion, X-linked |
db |
key |
2008-12 |
2017-12-29 |
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X連鎖肌張力障礙 - 帕金森病 |
Filipino descent, although it is likely that many more Filipinos are affected. |
in people of Filipino descent. This condition affects men much more often than |
dystonia musculorum deformans |
GTR |
C1839130 |
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Most people with this condition can trace their mother's ancestry to the island |
women. |
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Dystonia-parkinsonism, X-linked |
db |
key |
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of Panay in the Philippines. The prevalence of the disorder is 5.24 per |
html:p |
Parkinsonism is usually the first sign of X-linked dystonia-parkinsonism. |
DYT3 |
GeneReviews |
xdp |
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100,000 people on the island of Panay. |
Parkinsonism is a group of movement abnormalities including tremors, unusually |
Lubag |
db |
key |
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slow movement (bradykinesia), rigidity, an inability to hold the body upright |
Torsion dystonia-parkinsonism, Filipino type |
MeSH |
D020734 |
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and balanced (postural instability), and a shuffling gait that can cause |
X-linked dystonia-parkinsonism syndrome |
db |
key |
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recurrent falls. |
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X-linked torsion dystonia-parkinsonism syndrome |
OMIM |
314250 |
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html:p |
Later in life, many affected individuals also develop a pattern of involuntary, |
XDP |
db |
key |
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sustained muscle contractions known as dystonia. The dystonia associated with |
Orphanet |
53351 |
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X-linked dystonia-parkinsonism typically starts in one area, most often the |
db |
key |
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eyes, jaw, or neck, and later spreads to other parts of the body. The |
|
SNOMED CT |
698279003 |
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continuous muscle cramping and spasms can be disabling. Depending on which |
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muscles are affected, widespread (generalized) dystonia can cause difficulty |
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with speaking, swallowing, coordination, and walking. |
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html:p |
The signs and symptoms of X-linked dystonia-parkinsonism vary widely. In the |
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mildest cases, affected individuals have slowly progressive parkinsonism with |
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little or no dystonia. More severe cases involve dystonia that rapidly becomes |
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generalized. These individuals become dependent on others for care within a few |
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years after signs and symptoms appear, and they may die prematurely from |
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breathing difficulties, infections (such as aspiration pneumonia), or other |
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complications. |
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X-Linked Familial Exudative Vitreoretinopathy |
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家族性滲出性玻璃體視網膜病變 |
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related-gene-list |
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X-linked hyper IgM syndrome |
https://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome |
X-linked hyper IgM syndrome is estimated to occur in 2 per million newborn |
html:p |
X-linked hyper IgM syndrome is a condition that affects the immune system and |
xr |
X-linked recessive |
CD40LG |
https://ghr.nlm.nih.gov/gene/CD40LG |
HIGM1 |
db |
key |
2013-04 |
2017-12-29 |
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Hyper-IgM Syndrome 1 |
boys. |
|
occurs almost exclusively in males. People with this disorder have abnormal |
Hyper-IgM syndrome 1 |
GTR |
C0398689 |
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高免疫球蛋白M症候群第一型 |
levels of proteins called antibodies or immunoglobulins. Antibodies help protect |
Immunodeficiency with Hyper-IgM, type 1 |
db |
key |
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the body against infection by attaching to specific foreign particles and |
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GeneReviews |
xlhi |
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germs, marking them for destruction. There are several classes of antibodies, |
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and each one has a different function in the immune system. Although the name of |
ICD-10-CM |
D80.5 |
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this condition implies that affected individuals always have high levels of |
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immunoglobulin M (IgM), some people have normal levels of this antibody. People |
MeSH |
D053307 |
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with X-linked hyper IgM syndrome have low levels of three other classes of |
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antibodies: immunoglobulin G (IgG), immunoglobulin A (IgA), and immunoglobulin E |
OMIM |
308230 |
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(IgE). The lack of certain antibody classes makes it difficult for people with |
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this disorder to fight off infections. |
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SNOMED CT |
403835002 |
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html:p |
Individuals with X-linked hyper IgM syndrome begin to develop frequent |
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infections in infancy and early childhood. Common infections include pneumonia, |
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sinus infections (sinusitis), and ear infections (otitis). Infections often |
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cause these children to have chronic diarrhea and they fail to gain weight and |
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grow at the expected rate (failure to thrive). Some people with X-linked hyper |
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IgM syndrome have low levels of white blood cells called neutrophils |
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(neutropenia). Affected individuals may develop autoimmune disorders, neurologic |
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complications from brain and spinal cord (central nervous system) infections, |
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liver disease, and gastrointestinal tumors. They also have an increased risk of |
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lymphoma, which is a cancer of immune system cells. |
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html:p |
The severity of X-linked hyper IgM syndrome varies among affected individuals, |
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even among members of the same family. Without treatment, this condition can |
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result in death during childhood or adolescence. |
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X-Linked Hypohidrotic Ectodermal Dysplasia |
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X-性聯遺傳少汗性外胚層發育不良 |
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X-linked Hypophosphatemic Rickets |
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性聯遺傳低磷酸鹽佝僂症 |
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related-gene-list |
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X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia |
https://ghr.nlm.nih.gov/condition/x-linked-immunodeficiency-with-magnesium-defec |
The prevalence of XMEN is unknown. Only a few affected individuals have |
html:p |
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, |
xr |
X-linked recessive |
MAGT1 |
https://ghr.nlm.nih.gov/gene/MAGT1 |
immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection, |
db |
key |
2014-06 |
2017-12-29 |
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t-epstein-barr-virus-infection-and-neoplasia |
been described in the medical literature. |
and neoplasia (typically known by the acronym XMEN) is a disorder that affects |
and neoplasia |
GTR |
C3275445 |
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the immune system in males. In XMEN, certain types of immune system cells called |
XMEN |
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T cells are reduced in number or do not function properly. Normally these cells |
MeSH |
D008231 |
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recognize foreign invaders, such as viruses, bacteria, and fungi, and are then |
db |
key |
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turned on (activated) to attack these invaders in order to prevent infection and |
OMIM |
300853 |
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illness. Because males with XMEN do not have enough functional T cells, they |
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have frequent infections, such as ear infections, sinus infections, and |
|
Orphanet |
317476 |
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pneumonia. |
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db |
key |
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html:p |
In particular, affected individuals are vulnerable to the Epstein-Barr virus |
|
SNOMED CT |
711481001 |
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(EBV). EBV is a very common virus that infects more than 90 percent of the |
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general population and in most cases goes unnoticed. Normally, after initial |
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infection, EBV remains in the body for the rest of a person's life. However, the |
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virus is generally inactive (latent) because it is controlled by T cells. In |
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males with XMEN, however, the T cells cannot control the virus, and EBV |
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infection can lead to cancers of immune system cells (lymphomas). The word |
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"neoplasia" in the condition name refers to these lymphomas; neoplasia is a |
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general term meaning abnormal growths of tissue. The EBV infection itself |
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usually does not cause any other symptoms in males with XMEN, and affected |
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individuals may not come to medical attention until they develop lymphoma. |
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related-gene-list |
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X-linked infantile nystagmus |
https://ghr.nlm.nih.gov/condition/x-linked-infantile-nystagmus |
The incidence of all forms of infantile nystagmus is estimated to be 1 in |
html:p |
X-linked infantile nystagmus is a condition characterized by abnormal eye |
x |
X-linked |
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FRMD7 |
https://ghr.nlm.nih.gov/gene/FRMD7 |
congenital motor nystagmus |
db |
key |
2009-09 |
2017-12-29 |
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FRMD7-Related Infantile Nystagmus |
5,000 newborns; however, the precise incidence of X-linked infantile nystagmus |
movements. Nystagmus is a term that refers to involuntary side-to-side |
FRMD7-related infantile nystagmus |
GTR |
C1839580 |
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先天性眼球震顫 |
is unknown. |
movements of the eyes. In people with this condition, nystagmus is present at |
idiopathic infantile nystagmus |
db |
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birth or develops within the first six months of life. The abnormal eye |
NYS1 |
GeneReviews |
xl-nystag |
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movements may worsen when an affected person is feeling anxious or tries to |
X-linked congenital nystagmus |
db |
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stare directly at an object. The severity of nystagmus varies, even among |
X-linked idiopathic infantile nystagmus |
ICD-10-CM |
H55.01 |
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affected individuals within the same family. Sometimes, affected individuals |
db |
key |
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will turn or tilt their head to compensate for the irregular eye movements. |
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MeSH |
D020417 |
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db |
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OMIM |
310700 |
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db |
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Orphanet |
651 |
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db |
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SNOMED CT |
307671001 |
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db |
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related-gene-list |
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SNOMED CT |
64635004 |
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X-linked intellectual disability, Siderius type |
https://ghr.nlm.nih.gov/condition/x-linked-intellectual-disability-siderius-type |
While X-linked intellectual disability of all types and causes is |
html:p |
X-linked intellectual disability, Siderius type is a condition characterized by |
xr |
X-linked recessive |
PHF8 |
https://ghr.nlm.nih.gov/gene/PHF8 |
MRXSSD |
db |
key |
2015-06 |
2017-12-29 |
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赛得瑞斯型X连锁智力缺陷 |
relatively common, with a prevalence of 1 in 600 to 1,000 males, the prevalence |
mild to moderate intellectual disability that affects only males. Affected boys |
Siderius-Hamel syndrome |
GTR |
C1846055 |
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of the Siderius type is unknown. Only a few affected families have been |
often have delayed development of motor skills such as walking, and their speech |
Siderius X-linked mental retardation syndrome |
db |
key |
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described in the scientific literature. |
may be delayed. |
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syndromic X-linked mental retardation, Siderius type |
MeSH |
D038901 |
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html:p |
Individuals with X-linked intellectual disability, Siderius type frequently also |
X-linked mental retardation Hamel type |
db |
key |
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have an opening in the lip (cleft lip) with an opening in the roof of the mouth |
X-linked mental retardation Siderius type |
OMIM |
300263 |
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(cleft palate). A cleft can occur on one or both sides of the upper lip. |
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key |
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html:p |
Some boys and men with this condition have distinctive facial features, |
|
Orphanet |
85287 |
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including a long face, a sloping forehead, a broad nasal bridge, a prominent |
db |
key |
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bone in the lower forehead (supraorbital ridge), and outside corners of the eyes |
SNOMED CT |
718908009 |
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that point upward (upslanting palpebral fissures). Affected individuals may |
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also have low-set ears and large hands. |
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related-gene-list |
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X-linked juvenile retinoschisis |
https://ghr.nlm.nih.gov/condition/x-linked-juvenile-retinoschisis |
The prevalence of X-linked juvenile retinoschisis is estimated to be 1 in |
html:p |
X-linked juvenile retinoschisis is a condition characterized by impaired vision |
xr |
X-linked recessive |
RS1 |
https://ghr.nlm.nih.gov/gene/RS1 |
congenital X-linked retinoschisis |
db |
key |
2015-03 |
2017-12-29 |
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青年型X-性聯遺傳視網膜裂損症/視覺黃斑症 |
5,000 to 25,000 men worldwide. |
that begins in childhood and occurs almost exclusively in males. This disorder |
degenerative retinoschisis |
GTR |
C0271091 |
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affects the retina, which is a specialized light-sensitive tissue that lines the |
juvenile retinoschisis |
db |
key |
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back of the eye. Damage to the retina impairs the sharpness of vision (visual |
X-linked retinoschisis |
GeneReviews |
retinoschisis |
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acuity) in both eyes. Typically, X-linked juvenile retinoschisis affects cells |
XJR |
db |
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in the central area of the retina called the macula. The macula is responsible |
MeSH |
D041441 |
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for sharp central vision, which is needed for detailed tasks such as reading, |
db |
key |
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driving, and recognizing faces. X-linked juvenile retinoschisis is one type of a |
OMIM |
312700 |
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broader disorder called macular degeneration, which disrupts the normal |
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db |
key |
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functioning of the macula. Occasionally, side (peripheral) vision is affected in |
Orphanet |
792 |
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people with X-linked juvenile retinoschisis. |
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db |
key |
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html:p |
X-linked juvenile retinoschisis is usually diagnosed when affected boys start |
SNOMED CT |
232013002 |
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school and poor vision and difficulty with reading become apparent. In more |
db |
key |
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severe cases, eye squinting and involuntary movement of the eyes (nystagmus) |
SNOMED CT |
232014008 |
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begin in infancy. Other early features of X-linked juvenile retinoschisis |
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db |
key |
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include eyes that do not look in the same direction (strabismus) and |
SNOMED CT |
86923008 |
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farsightedness (hyperopia). Visual acuity often declines in childhood and |
db |
key |
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adolescence but then stabilizes throughout adulthood until a significant decline |
SNOMED CT |
95493003 |
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in visual acuity typically occurs in a man's fifties or sixties. Sometimes, |
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severe complications develop, such as separation of the retinal layers (retinal |
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detachment) or leakage of blood vessels in the retina (vitreous hemorrhage). |
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These eye abnormalities can further impair vision or cause blindness. |
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related-gene-list |
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X-linked lissencephaly with abnormal genitalia |
https://ghr.nlm.nih.gov/condition/x-linked-lissencephaly-with-abnormal-genitalia |
The incidence of XLAG is unknown; approximately 30 affected families have |
html:p |
X-linked lissencephaly with abnormal genitalia (XLAG) is a condition that |
xd |
X-linked dominant |
ARX |
https://ghr.nlm.nih.gov/gene/ARX |
LISX2 |
db |
key |
2013-08 |
2017-12-29 |
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been described in the medical literature. |
affects the development of the brain and genitalia. It occurs most often in |
X-linked lissencephaly 2 |
GTR |
C1846171 |
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males. |
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X-linked lissencephaly with ambiguous genitalia |
db |
key |
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html:p |
XLAG is characterized by abnormal brain development that results in the brain |
XLAG |
ICD-10-CM |
Q04.3 |
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having a smooth appearance (lissencephaly) instead of its normal folds and |
XLISG |
db |
key |
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grooves. Individuals without any folds in the brain (agyria) typically have more |
MeSH |
D054221 |
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severe symptoms than people with reduced folds and grooves (pachygyria). |
db |
key |
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Individuals with XLAG may also have a lack of development (agenesis) of the |
OMIM |
300215 |
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tissue connecting the left and right halves of the brain (corpus callosum). The |
db |
key |
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brain abnormalities can cause severe intellectual disability and developmental |
Orphanet |
452 |
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delay, abnormal muscle stiffness (spasticity), weak muscle tone (hypotonia), and |
db |
key |
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feeding difficulties. Starting soon after birth, babies with XLAG have frequent |
SNOMED CT |
717632002 |
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and recurrent seizures (epilepsy). Most children with XLAG do not survive past |
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early childhood. |
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html:p |
Another key feature of XLAG in males is abnormal genitalia that can include an |
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unusually small penis (micropenis), undescended testes (cryptorchidism), or |
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external genitalia that do not look clearly male or clearly female (ambiguous |
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genitalia). |
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html:p |
Additional signs and symptoms of XLAG include chronic diarrhea, periods of |
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increased blood sugar (transient hyperglycemia), and problems with body |
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temperature regulation. |
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related-gene-list |
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X-linked lymphoproliferative disease |
https://ghr.nlm.nih.gov/condition/x-linked-lymphoproliferative-disease |
XLP1 is estimated to occur in about 1 per million males worldwide. XLP2 is |
html:p |
X-linked lymphoproliferative disease (XLP) is a disorder of the immune system |
xr |
X-linked recessive |
SH2D1A |
https://ghr.nlm.nih.gov/gene/SH2D1A |
Duncan disease |
db |
key |
2014-11 |
2017-12-29 |
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X連鎖淋巴組織增生性疾病 |
less common, occurring in about 1 per 5 million males. |
and blood-forming cells that is found almost exclusively in males. More than |
related-gene |
gene-symbol |
ghr-page |
Epstein-Barr virus-induced lymphoproliferative disease in males |
GTR |
C1845076 |
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half of individuals with this disorder experience an exaggerated immune response |
XIAP |
https://ghr.nlm.nih.gov/gene/XIAP |
familial fatal Epstein-Barr infection |
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to the Epstein-Barr virus (EBV). EBV is a very common virus that eventually |
Purtilo syndrome |
GTR |
C1868674 |
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infects most humans. In some people it causes infectious mononucleosis (commonly |
severe susceptibility to EBV infection |
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known as "mono"). Normally, after initial infection, EBV remains in certain |
severe susceptibility to infectious mononucleosis |
GeneReviews |
x-lpd |
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immune system cells (lymphocytes) called B cells. However, the virus is |
X-linked lymphoproliferative syndrome |
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generally inactive (latent) because it is controlled by other lymphocytes called |
XLP |
ICD-10-CM |
D82.3 |
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T cells that specifically target EBV-infected B cells. |
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html:p |
People with XLP may respond to EBV infection by producing abnormally large |
MeSH |
D008232 |
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numbers of T cells, B cells, and other lymphocytes called macrophages. This |
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proliferation of immune cells often causes a life-threatening reaction called |
OMIM |
300635 |
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hemophagocytic lymphohistiocytosis. Hemophagocytic lymphohistiocytosis causes |
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fever, destroys blood-producing cells in the bone marrow, and damages the liver. |
OMIM |
308240 |
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The spleen, heart, kidneys, and other organs and tissues may also be affected. |
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In some individuals with XLP, hemophagocytic lymphohistiocytosis or related |
Orphanet |
2442 |
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symptoms may occur without EBV infection. |
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html:p |
About one-third of people with XLP experience dysgammaglobulinemia, which means |
SNOMED CT |
77121009 |
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they have abnormal levels of some types of antibodies. Antibodies (also known as |
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immunoglobulins) are proteins that attach to specific foreign particles and |
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germs, marking them for destruction. Individuals with dysgammaglobulinemia are |
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prone to recurrent infections. |
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html:p |
Cancers of immune system cells (lymphomas) occur in about one-third of people |
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with XLP. |
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html:p |
Without treatment, most people with XLP survive only into childhood. Death |
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usually results from hemophagocytic lymphohistiocytosis. |
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html:p |
XLP can be divided into two types based on its genetic cause and pattern of |
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signs and symptoms: XLP1 (also known as classic XLP) and XLP2. People with XLP2 |
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have not been known to develop lymphoma, are more likely to develop |
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hemophagocytic lymphohistiocytosis without EBV infection, usually have an |
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enlarged spleen (splenomegaly), and may also have inflammation of the large |
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intestine (colitis). Some researchers believe that these individuals should |
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actually be considered to have a similar but separate disorder rather than a |
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type of XLP. |
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related-gene-list |
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X-linked myotubular myopathy, XLMTM |
https://ghr.nlm.nih.gov/condition/x-linked-myotubular-myopathy |
The incidence of X-linked myotubular myopathy is estimated to be 1 in |
html:p |
X-linked myotubular myopathy is a condition that primarily affects muscles used |
xr |
X-linked recessive |
MTM1 |
https://ghr.nlm.nih.gov/gene/MTM1 |
CNM |
db |
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2014-07 |
2017-12-29 |
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性聯遺傳肌小管病變 |
50,000 newborn males worldwide. |
for movement (skeletal muscles) and occurs almost exclusively in males. People |
MTMX |
GTR |
C0410203 |
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with this condition have muscle weakness (myopathy) and decreased muscle tone |
X-linked centronuclear myopathy |
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(hypotonia) that are usually evident at birth. |
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XLMTM |
GeneReviews |
mtm |
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html:p |
The muscle problems in X-linked myotubular myopathy impair the development of |
XMTM |
db |
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motor skills such as sitting, standing, and walking. Affected infants may also |
ICD-10-CM |
G71.2 |
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have difficulties with feeding due to muscle weakness. Individuals with this |
db |
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condition often do not have the muscle strength to breathe on their own and must |
MeSH |
D020914 |
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be supported with a machine to help them breathe (mechanical ventilation). Some |
db |
key |
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affected individuals need breathing assistance only periodically, typically |
OMIM |
310400 |
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during sleep, while others require it continuously. People with X-linked |
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myotubular myopathy may also have weakness in the muscles that control eye |
Orphanet |
596 |
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movement (ophthalmoplegia), weakness in other muscles of the face, and absent |
db |
key |
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reflexes (areflexia). |
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SNOMED CT |
46804001 |
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html:p |
In X-linked myotubular myopathy, muscle weakness often disrupts normal bone |
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development and can lead to fragile bones, an abnormal curvature of the spine |
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(scoliosis), and joint deformities (contractures) of the hips and knees. People |
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with X-linked myotubular myopathy may have a large head with a narrow and |
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elongated face and a high, arched roof of the mouth (palate). They may also have |
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liver disease, recurrent ear and respiratory infections, or seizures. |
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html:p |
Because of their severe breathing problems, individuals with X-linked myotubular |
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myopathy usually survive only into early childhood; however, some people with |
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this condition have lived into adulthood. |
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html:p |
X-linked myotubular myopathy is a member of a group of disorders called |
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centronuclear myopathies. In centronuclear myopathies, the nucleus is found at |
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the center of many rod-shaped muscle cells instead of at either end, where it is |
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normally located. |
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X-linked Ocular Albinism, Ocular Albinism type I, OA1 |
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眼睛白化症第一型 |
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X-linked Recessive Ichthyosis |
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X染色體隱性遺傳魚鱗癬_非基因缺失型 |
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related-gene-list |
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X-linked severe combined immunodeficiency |
https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency |
X-linked SCID is the most common form of severe combined immunodeficiency. |
html:p |
X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the |
xr |
X-linked recessive |
IL2RG |
https://ghr.nlm.nih.gov/gene/IL2RG |
IL2RG SCID, T- B+ NK- |
db |
key |
2016-04 |
2017-12-29 |
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Its exact incidence is unknown, but the condition probably affects at least 1 |
immune system that occurs almost exclusively in males. Boys with X-linked SCID |
SCIDX1 |
GTR |
C1279481 |
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in 50,000 to 100,000 newborns. |
are prone to recurrent and persistent infections because they lack the necessary |
X-linked SCID |
db |
key |
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immune cells to fight off certain bacteria, viruses, and fungi. Many infants |
X-SCID |
GeneReviews |
x-scid |
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with X-linked SCID develop chronic diarrhea, a fungal infection called thrush, |
XSCID |
db |
key |
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and skin rashes. Affected individuals also grow more slowly than other children. |
MeSH |
D053632 |
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Without treatment, males with X-linked SCID usually do not live beyond infancy. |
db |
key |
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OMIM |
300400 |
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db |
key |
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Orphanet |
276 |
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db |
key |
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related-gene-list |
|
SNOMED CT |
203592006 |
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X-linked sideroblastic anemia |
https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia |
This form of anemia is uncommon. However, researchers believe that it may |
html:p |
X-linked sideroblastic anemia is an inherited disorder that prevents developing |
xr |
X-linked recessive |
ALAS2 |
https://ghr.nlm.nih.gov/gene/ALAS2 |
Anemia, hereditary sideroblastic |
db |
key |
2009-04 |
2017-12-29 |
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X连锁的铁粒细胞性贫血 |
not be as rare as they once thought. Increased awareness of the disease has led |
red blood cells (erythroblasts) from making enough hemoglobin, which is the |
related-gene |
gene-symbol |
ghr-page |
Anemia, sex-linked hypochromic sideroblastic |
GTR |
C0221018 |
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(Blood) |
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to more frequent diagnoses. |
protein that carries oxygen in the blood. People with X-linked sideroblastic |
HFE |
https://ghr.nlm.nih.gov/gene/HFE |
ANH1 |
db |
key |
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anemia have mature red blood cells that are smaller than normal (microcytic) and |
Congenital sideroblastic anaemia |
ICD-10-CM |
D64.0 |
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appear pale (hypochromic) because of the shortage of hemoglobin. This disorder |
Erythroid 5-aminolevulinate synthase deficiency |
db |
key |
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also leads to an abnormal accumulation of iron in red blood cells. The |
Hereditary iron-loading anemia |
MeSH |
D000756 |
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iron-loaded erythroblasts, which are present in bone marrow, are called ring |
X chromosome-linked sideroblastic anemia |
db |
key |
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sideroblasts. These abnormal cells give the condition its name. |
X-linked pyridoxine-responsive sideroblastic anemia |
OMIM |
300751 |
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html:p |
The signs and symptoms of X-linked sideroblastic anemia result from a |
XLSA |
db |
key |
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combination of reduced hemoglobin and an overload of iron. They range from mild |
Orphanet |
1047 |
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to severe and most often appear in young adulthood. Common features include |
db |
key |
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fatigue, dizziness, a rapid heartbeat, pale skin, and an enlarged liver and |
SNOMED CT |
62677000 |
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spleen (hepatosplenomegaly). Over time, severe medical problems such as heart |
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disease and liver damage (cirrhosis) can result from the buildup of excess iron |
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in these organs. |
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related-gene-list |
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X-linked sideroblastic anemia and ataxia |
https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia-and-ataxia |
X-linked sideroblastic anemia and ataxia is a rare disorder; only a few |
html:p |
X-linked sideroblastic anemia and ataxia is a rare condition characterized by a |
xr |
X-linked recessive |
ABCB7 |
https://ghr.nlm.nih.gov/gene/ABCB7 |
XLSA/A |
db |
key |
2009-04 |
2017-12-29 |
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affected families have been reported. |
blood disorder called sideroblastic anemia and movement problems known as |
GTR |
C1845028 |
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ataxia. This condition occurs only in males. |
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db |
key |
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html:p |
Sideroblastic anemia results when developing red blood cells called |
|
GeneReviews |
sider-anemia |
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erythroblasts do not make enough hemoglobin, which is the protein that carries |
db |
key |
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oxygen in the blood. People with X-linked sideroblastic anemia and ataxia have |
ICD-10-CM |
D64.0 |
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mature red blood cells that are smaller than normal (microcytic) and appear pale |
db |
key |
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(hypochromic) because of the shortage of hemoglobin. This disorder also leads |
MeSH |
D000756 |
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to an abnormal accumulation of iron in red blood cells. The iron-loaded |
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key |
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erythroblasts, which are present in bone marrow, are called ring sideroblasts. |
OMIM |
301310 |
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These abnormal cells give the condition its name. Unlike other forms of |
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key |
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sideroblastic anemia, X-linked sideroblastic anemia and ataxia does not cause a |
Orphanet |
2802 |
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potentially dangerous buildup of iron in the body. The anemia is typically mild |
db |
key |
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and usually does not cause any symptoms. |
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SNOMED CT |
62677000 |
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html:p |
X-linked sideroblastic anemia and ataxia causes problems with balance and |
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coordination that appear early in life. The ataxia primarily affects the trunk, |
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making it difficult to sit, stand, and walk unassisted. In addition to ataxia, |
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people with this condition often have trouble coordinating movements that |
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involve judging distance or scale (dysmetria) and find it difficult to make |
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rapid, alternating movements (dysdiadochokinesis). Mild speech difficulties |
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(dysarthria), tremor, and abnormal eye movements have also been reported in some |
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affected individuals. |
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related-gene-list |
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X-linked spondyloepiphyseal dysplasia tarda |
https://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda |
The prevalence of X-linked spondyloepiphyseal dysplasia tarda is estimated |
html:p |
X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone |
xr |
X-linked recessive |
TRAPPC2 |
https://ghr.nlm.nih.gov/gene/TRAPPC2 |
Dysplasia, Spondyloepiphyseal |
db |
key |
2008-06 |
2017-12-29 |
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性聯遲發型脊椎骨骼發育不全 |
to be 1 in 150,000 to 200,000 people worldwide. |
growth and occurs almost exclusively in males. The name of the condition |
Late-onset spondyloepiphyseal dysplasia |
GTR |
C0220776 |
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indicates that it affects the bones of the spine (spondylo-) and the ends |
SED tarda |
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(epiphyses) of long bones in the arms and legs. "Tarda" indicates that signs |
Spondyloepiphyseal Dysplasia |
GeneReviews |
sedt |
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and symptoms of this condition are not present at birth, but appear later in |
X-linked SED |
db |
key |
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childhood, typically between ages 6 and 10. |
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X-linked SEDT |
ICD-10-CM |
Q77.7 |
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html:p |
Males with X-linked spondyloepiphyseal dysplasia tarda have skeletal |
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db |
key |
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abnormalities and short stature. Affected boys grow steadily until late |
|
MeSH |
D010009 |
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childhood, when their growth slows. Male adult height ranges from 4 feet 10 |
db |
key |
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inches to 5 feet 6 inches. Individuals with X-linked spondyloepiphyseal |
|
OMIM |
313400 |
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dysplasia tarda have a short trunk and neck, and their arms appear |
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key |
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disproportionately long. Impaired growth of the spinal bones (vertebrae) causes |
Orphanet |
93284 |
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the short stature seen in this disorder. The spinal abnormalities include |
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flattened vertebrae (platyspondyly) with hump-shaped bulges, progressive |
SNOMED CT |
51952004 |
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thinning of the discs between vertebrae, and an abnormal curvature of the spine |
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(scoliosis or kyphosis). Other skeletal features of X-linked spondyloepiphyseal |
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dysplasia tarda include an abnormality of the hip joint that causes the upper |
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leg bones to turn inward (coxa vara); a broad, barrel-shaped chest; and |
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decreased mobility of the elbow and hip joints. Arthritis often develops in |
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early adulthood, typically affecting the hip joints and spine. |
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related-gene-list |
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X-linked thrombocytopenia |
https://ghr.nlm.nih.gov/condition/x-linked-thrombocytopenia |
The estimated incidence of X-linked thrombocytopenia is between 1 and 10 |
html:p |
X-linked thrombocytopenia is a bleeding disorder that primarily affects males. |
xr |
X-linked recessive |
WAS |
https://ghr.nlm.nih.gov/gene/WAS |
thrombocytopenia 1 |
db |
key |
2013-02 |
2017-12-29 |
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X連鎖血小板減少症 |
per million males worldwide; this condition is rarer among females. |
This condition is characterized by a blood cell abnormality called |
XLT |
GTR |
C1839163 |
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thrombocytopenia, which is a shortage in the number of blood cell fragments |
db |
key |
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involved in clotting (platelets). Affected individuals often have abnormally |
GeneReviews |
was |
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small platelets as well, a condition called microthrombocytopenia. X-linked |
db |
key |
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thrombocytopenia can cause individuals to bruise easily or have episodes of |
ICD-10-CM |
D69.42 |
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prolonged bleeding following minor trauma or even in the absence of injury |
db |
key |
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(spontaneous bleeding). Some people with this condition experience spontaneous |
MeSH |
D013921 |
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bleeding in the brain (cerebral hemorrhage), which can cause brain damage that |
db |
key |
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can be life-threatening. |
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OMIM |
313900 |
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html:p |
Some people with X-linked thrombocytopenia also have patches of red, irritated |
db |
key |
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skin (eczema) or an increased susceptibility to infections. In severe cases, |
Orphanet |
852 |
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additional features can develop, such as cancer or autoimmune disorders, which |
db |
key |
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occur when the immune system malfunctions and attacks the body's own tissues and |
SNOMED CT |
37492005 |
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organs. It is unclear, however, if people with these features have X-linked |
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thrombocytopenia or a more severe disorder with similar signs and symptoms |
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called Wiskott-Aldrich syndrome. |
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html:p |
Some people have a mild form of the disorder called intermittent |
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thrombocytopenia. These individuals have normal platelet production at times |
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with episodes of thrombocytopenia. |
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related-gene-list |
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Xeroderma pigmentosum |
https://ghr.nlm.nih.gov/condition/xeroderma-pigmentosum |
Xeroderma pigmentosum is a rare disorder; it is estimated to affect about 1 |
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Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition |
ar |
autosomal recessive |
DDB2 |
https://ghr.nlm.nih.gov/gene/DDB2 |
DeSanctis-Cacchione syndrome |
db |
key |
2010-05 |
2017-12-29 |
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著色性乾皮病 |
in 1 million people in the United States and Europe. The condition is more |
characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. |
related-gene |
gene-symbol |
ghr-page |
XP |
GTR |
C0043346 |
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common in Japan, North Africa, and the Middle East. |
This condition mostly affects the eyes and areas of skin exposed to the sun. |
ERCC2 |
https://ghr.nlm.nih.gov/gene/ERCC2 |
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Some affected individuals also have problems involving the nervous system. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0268135 |
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html:p |
The signs of xeroderma pigmentosum usually appear in infancy or early childhood. |
ERCC3 |
https://ghr.nlm.nih.gov/gene/ERCC3 |
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Many affected children develop a severe sunburn after spending just a few |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0268138 |
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minutes in the sun. The sunburn causes redness and blistering that can last for |
ERCC4 |
https://ghr.nlm.nih.gov/gene/ERCC4 |
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weeks. Other affected children do not get sunburned with minimal sun exposure, |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0268140 |
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but instead tan normally. By age 2, almost all children with xeroderma |
ERCC5 |
https://ghr.nlm.nih.gov/gene/ERCC5 |
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pigmentosum develop freckling of the skin in sun-exposed areas (such as the |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C0268141 |
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face, arms, and lips); this type of freckling rarely occurs in young children |
POLH |
https://ghr.nlm.nih.gov/gene/POLH |
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without the disorder. In affected individuals, exposure to sunlight often causes |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1848410 |
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dry skin (xeroderma) and changes in skin coloring (pigmentation). This |
XPA |
https://ghr.nlm.nih.gov/gene/XPA |
db |
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combination of features gives the condition its name, xeroderma pigmentosum. |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1848411 |
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html:p |
People with xeroderma pigmentosum have a greatly increased risk of developing |
XPC |
https://ghr.nlm.nih.gov/gene/XPC |
db |
key |
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skin cancer. Without sun protection, about half of children with this condition |
GTR |
C1970808 |
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develop their first skin cancer by age 10. Most people with xeroderma |
db |
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pigmentosum develop multiple skin cancers during their lifetime. These cancers |
GTR |
C2752147 |
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occur most often on the face, lips, and eyelids. Cancer can also develop on the |
db |
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scalp, in the eyes, and on the tip of the tongue. Studies suggest that people |
GeneReviews |
xp |
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with xeroderma pigmentosum may also have an increased risk of other types of |
db |
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cancer, including brain tumors. Additionally, affected individuals who smoke |
ICD-10-CM |
Q82.1 |
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cigarettes have a significantly increased risk of lung cancer. |
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html:p |
The eyes of people with xeroderma pigmentosum may be painfully sensitive to UV |
MeSH |
D014983 |
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rays from the sun. If the eyes are not protected from the sun, they may become |
db |
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bloodshot and irritated, and the clear front covering of the eyes (the cornea) |
OMIM |
278700 |
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may become cloudy. In some people, the eyelashes fall out and the eyelids may be |
db |
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thin and turn abnormally inward or outward. In addition to an increased risk of |
OMIM |
278720 |
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eye cancer, xeroderma pigmentosum is associated with noncancerous growths on |
db |
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the eye. Many of these eye abnormalities can impair vision. |
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OMIM |
278730 |
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html:p |
About 30 percent of people with xeroderma pigmentosum develop progressive |
db |
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neurological abnormalities in addition to problems involving the skin and eyes. |
OMIM |
278740 |
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These abnormalities can include hearing loss, poor coordination, difficulty |
db |
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walking, movement problems, loss of intellectual function, difficulty swallowing |
OMIM |
278750 |
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and talking, and seizures. When these neurological problems occur, they tend to |
db |
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worsen with time. |
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OMIM |
278760 |
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html:p |
Researchers have identified at least eight inherited forms of xeroderma |
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pigmentosum: complementation group A (XP-A) through complementation group G |
OMIM |
278780 |
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(XP-G) plus a variant type (XP-V). The types are distinguished by their genetic |
db |
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cause. All of the types increase skin cancer risk, although some are more likely |
OMIM |
610651 |
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than others to be associated with neurological abnormalities. |
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Orphanet |
910 |
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SNOMED CT |
1073003 |
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db |
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SNOMED CT |
25784009 |
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db |
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SNOMED CT |
36454001 |
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db |
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SNOMED CT |
414673004 |
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db |
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SNOMED CT |
42530008 |
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db |
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SNOMED CT |
44600005 |
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db |
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Y chromosome microdeletion |
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Y染色體片段缺失突變檢測 |
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related-gene-list |
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SNOMED CT |
68637004 |
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Y chromosome infertility |
https://ghr.nlm.nih.gov/condition/y-chromosome-infertility |
Y chromosome infertility occurs in approximately 1 in 2,000 to 1 in 3,000 |
html:p |
Y chromosome infertility is a condition that affects the production of sperm, |
n |
not inherited |
USP9Y |
https://ghr.nlm.nih.gov/gene/USP9Y |
spermatogenic failure, Y-linked |
db |
key |
2009-01 |
2017-12-29 |
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Y染色體不孕 |
males of all ethnic groups. This condition accounts for between 5 percent and 10 |
making it difficult or impossible for affected men to father children. An |
code |
memo |
related-chromosome |
name |
ghr-page |
Y chromosome-related azoospermia |
GTR |
C1839071 |
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percent of cases of azoospermia or severe oligospermia. |
affected man's body may produce no sperm cells (azoospermia), a smaller than |
y |
Y-linked |
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Y |
https://ghr.nlm.nih.gov/chromosome/Y |
db |
key |
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usual number of sperm cells (oligospermia), or sperm cells that are abnormally |
GTR |
C1839073 |
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shaped or that do not move properly. |
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html:p |
Some men with Y chromosome infertility who have mild to moderate oligospermia |
GeneReviews |
yci |
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may eventually father a child naturally. Assisted reproductive technologies may |
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help other affected men; most men with Y chromosome infertility have some sperm |
MeSH |
D007248 |
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cells in the testes that can be extracted for this purpose. The most severely |
db |
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affected men do not have any mature sperm cells in the testes. This form of Y |
OMIM |
400042 |
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chromosome infertility is called Sertoli cell-only syndrome. |
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db |
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html:p |
Men with Y chromosome infertility usually do not have any other signs or |
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OMIM |
415000 |
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symptoms. Occasionally they may have unusually small testes or undescended |
db |
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testes (cryptorchidism). |
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SNOMED CT |
236791009 |
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inheritance-pattern-list |
related-gene-list |
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Yao syndrome |
https://ghr.nlm.nih.gov/condition/yao-syndrome |
Yao syndrome has an estimated prevalence of 1 in 10,000 to 1 in 100,000 |
html:p |
html:i |
|
u |
pattern unknown |
NOD2 |
synonym |
db-key |
db |
key |
2017-12 |
2017-12-29 |
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Autoinflammation |
people worldwide. Studies suggest that it is among the most common systemic |
NOD2 |
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synonym |
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GTR |
C4310620 |
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(affecting the whole body) autoinflammatory diseases in adults. For unknown |
synonym |
db-key |
db |
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reasons, Yao syndrome appears to affect women more frequently than men. |
synonym |
|
MeSH |
D056660 |
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db-key |
db |
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OMIM |
617321 |
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html:p |
The episodes of fever and inflammation associated with Yao syndrome can last for |
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several days and occur weeks to months apart. During these episodes, most |
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affected individuals develop reddened, inflamed areas on the skin called |
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erythematous patches or plaques. This reddening occurs most commonly on the |
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face, chest, and back but can also affect the arms and legs. Episodes of joint |
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pain and inflammation similar to arthritis are common, particularly in the legs, |
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as is swelling of the ankles and feet. Inflammation also affects the |
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gastrointestinal system, causing attacks of abdominal pain, bloating, and |
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cramping with diarrhea in more than half of affected individuals. Dry eyes and |
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dry mouth (described as "sicca-like" symptoms, which refers to dryness) are |
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reported in about half of people with this disease. Other potential signs and |
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symptoms of Yao syndrome include mouth sores, chest pain, and enlargement of |
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various glands. |
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html:p |
Yao syndrome is usually diagnosed in adulthood. It is a long-lasting (chronic) |
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disease, and episodes can recur for many years. |
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inheritance-pattern-list |
related-gene-list |
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ZAP70-related severe combined immunodeficiency |
https://ghr.nlm.nih.gov/condition/zap70-related-severe-combined-immunodeficiency |
ZAP70-related SCID is a rare disorder. Only about 20 affected individuals |
html:p |
html:i |
|
|
ar |
autosomal recessive |
ghr-page |
selective T-cell defect |
db-key |
db |
key |
2015-04 |
2017-12-29 |
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have been identified. The prevalence of SCID from all genetic causes combined is |
They are prone to repeated and persistent infections that can be |
https://ghr.nlm.nih.gov/gene/ZAP70 |
ZAP70-related SCID |
GTR |
C1849236 |
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approximately 1 in 50,000. |
very serious or life-threatening. |
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zeta-associated protein 70 deficiency |
db-key |
db |
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GeneReviews |
zap70-scid |
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db-key |
db |
key |
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If not treated in a way that restores immune function, children with SCID |
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MeSH |
D016511 |
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usually live only a year or two. |
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db-key |
db |
key |
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OMIM |
176947 |
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db-key |
db |
key |
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Orphanet |
911 |
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db-key |
db |
key |
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html:p |
html:i |
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|
SNOMED CT |
190993005 |
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ZAP70 |
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related-gene-list |
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Zellweger spectrum disorder |
https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder |
Zellweger spectrum disorder is estimated to occur in 1 in 50,000 |
html:p |
Zellweger spectrum disorder is a group of conditions that have overlapping signs |
ar |
autosomal recessive |
PEX1 |
https://ghr.nlm.nih.gov/gene/PEX1 |
cerebrohepatorenal syndrome |
db |
key |
2015-06 |
2017-12-29 |
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趙葦格氏症 |
individuals. |
and symptoms and affect many parts of the body. This group of conditions |
related-gene |
gene-symbol |
ghr-page |
PBD-ZSD |
GTR |
C0043459 |
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includes Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), and infantile |
PEX2 |
https://ghr.nlm.nih.gov/gene/PEX2 |
PBD, ZSS |
db |
key |
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Refsum disease. These conditions were once thought to be distinct disorders but |
related-gene |
gene-symbol |
ghr-page |
peroxisome biogenesis disorders, Zellweger syndrome spectrum |
GTR |
C0282525 |
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are now considered to be part of the same condition spectrum. Zellweger |
PEX3 |
https://ghr.nlm.nih.gov/gene/PEX3 |
Zellweger spectrum |
db |
key |
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syndrome is the most severe form of the Zellweger spectrum disorder, NALD is |
related-gene |
gene-symbol |
ghr-page |
Zellweger syndrome spectrum |
GTR |
C0282527 |
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intermediate in severity, and infantile Refsum disease is the least severe form. |
PEX5 |
https://ghr.nlm.nih.gov/gene/PEX5 |
ZSD |
db |
key |
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Because these three conditions are now considered one disorder, some |
related-gene |
gene-symbol |
ghr-page |
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GTR |
C1832200 |
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researchers prefer not to use the separate condition names but to instead refer |
PEX6 |
https://ghr.nlm.nih.gov/gene/PEX6 |
db |
key |
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to cases as severe, intermediate, or mild. |
related-gene |
gene-symbol |
ghr-page |
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GeneReviews |
pbd |
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html:p |
Individuals with Zellweger syndrome, at the severe end of the spectrum, develop |
PEX10 |
https://ghr.nlm.nih.gov/gene/PEX10 |
db |
key |
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signs and symptoms of the condition during the newborn period. These infants |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
E71.510 |
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experience weak muscle tone (hypotonia), feeding problems, hearing and vision |
PEX11B |
https://ghr.nlm.nih.gov/gene/PEX11B |
db |
key |
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loss, and seizures. These problems are caused by the breakdown of myelin, which |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
E71.511 |
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is the covering that protects nerves and promotes the efficient transmission of |
PEX12 |
https://ghr.nlm.nih.gov/gene/PEX12 |
db |
key |
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nerve impulses. The part of the brain and spinal cord that contains myelin is |
related-gene |
gene-symbol |
ghr-page |
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ICD-10-CM |
G60.1 |
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called white matter. Destruction of myelin (demyelination) leads to loss of |
PEX13 |
https://ghr.nlm.nih.gov/gene/PEX13 |
db |
key |
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white matter (leukodystrophy). Children with Zellweger syndrome also develop |
related-gene |
gene-symbol |
ghr-page |
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MeSH |
D015211 |
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life-threatening problems in other organs and tissues, such as the liver, heart, |
PEX14 |
https://ghr.nlm.nih.gov/gene/PEX14 |
db |
key |
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and kidneys. They may have skeletal abnormalities, including a large space |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
202370 |
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between the bones of the skull (fontanelles) and characteristic bone spots known |
PEX16 |
https://ghr.nlm.nih.gov/gene/PEX16 |
db |
key |
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as chondrodysplasia punctata that can be seen on x-ray. Affected individuals |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
214100 |
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have distinctive facial features, including a flattened face, broad nasal |
PEX19 |
https://ghr.nlm.nih.gov/gene/PEX19 |
db |
key |
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bridge, and high forehead. Children with Zellweger syndrome typically do not |
related-gene |
gene-symbol |
ghr-page |
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OMIM |
214110 |
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survive beyond the first year of life. |
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PEX26 |
https://ghr.nlm.nih.gov/gene/PEX26 |
db |
key |
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html:p |
People with NALD or infantile Refsum disease, which are at the less-severe end |
OMIM |
266510 |
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of the spectrum, have more variable features than those with Zellweger syndrome |
db |
key |
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and usually do not develop signs and symptoms of the disease until late infancy |
OMIM |
601539 |
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or early childhood. They may have many of the features of Zellweger syndrome; |
db |
key |
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however, their condition typically progresses more slowly. Children with these |
OMIM |
614859 |
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less-severe conditions often have hypotonia, vision problems, hearing loss, |
db |
key |
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OMIM |
614862 |
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disability. Most people with NALD survive into childhood, and those with |
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db |
key |
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infantile Refsum disease may reach adulthood. In rare cases, individuals at the |
OMIM |
614866 |
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mildest end of the condition spectrum have developmental delay in childhood and |
db |
key |
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hearing loss or vision problems beginning in adulthood and do not develop the |
OMIM |
614870 |
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other features of this disorder. |
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db |
key |
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OMIM |
614872 |
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db |
key |
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OMIM |
614876 |
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db |
key |
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OMIM |
614882 |
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db |
key |
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OMIM |
614883 |
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db |
key |
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OMIM |
614886 |
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db |
key |
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OMIM |
614887 |
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db |
key |
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OMIM |
614920 |
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db |
key |
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Orphanet |
44 |
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db |
key |
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Orphanet |
772 |
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db |
key |
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Orphanet |
912 |
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db |
key |
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Orphanet |
79189 |
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db |
key |
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|
SNOMED CT |
238061001 |
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db |
key |
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SNOMED CT |
238062008 |
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db |
key |
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|
SNOMED CT |
88469006 |
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